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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

6657

Name

SOX2

Synonymous

SRY (sex determining region Y)-box 2;SOX2;SRY (sex determining region Y)-box 2

Definition

SRY-related HMG-box gene 2|transcription factor SOX-2|transcription factor SOX2

Position

3q26.3-q27

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.123C>G; p.V41V; 3:181712483-181712483

breastcarcinomaSubstitution - coding silent

c.250G>A; p.E84K; 3:181712610-181712610

breastcarcinomaSubstitution - Missense

c.466C>T; p.R156C; 3:181712826-181712826

breastcarcinomaSubstitution - Missense

c.472G>A; p.D158N; 3:181712832-181712832

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.698C>A; p.P233H; 3:181713058-181713058

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.452C>T; p.A151V; 3:181712812-181712812

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.111C>T; p.S37S; 3:181712471-181712471

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.654C>T; p.N218N; 3:181713014-181713014

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.355C>T; p.L119F; 3:181712715-181712715

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.424G>A; p.G142R; 3:181712784-181712784

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.803G>C; p.G268A; 3:181713163-181713163

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.201C>A; p.H67Q; 3:181712561-181712561

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.684G>A; p.S228S; 3:181713044-181713044

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.644C>T; p.T215I; 3:181713004-181713004

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.811C>T; p.R271W; 3:181713171-181713171

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.60C>G; p.G20G; 3:181712420-181712420

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.355C>G; p.L119V; 3:181712715-181712715

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.660G>C; p.S220S; 3:181713020-181713020

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.862G>A; p.A288T; 3:181713222-181713222

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.228C>T; p.G76G; 3:181712588-181712588

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.257A>G; p.E86G; 3:181712617-181712617

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.160G>A; p.G54R; 3:181712520-181712520

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.639G>A; p.S213S; 3:181712999-181712999

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.788C>T; p.A263V; 3:181713148-181713148

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.602A>G; p.D201G; 3:181712962-181712962

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.829T>C; p.Y277H; 3:181713189-181713189

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.297G>A; p.A99A; 3:181712657-181712657

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.167G>T; p.R56L; 3:181712527-181712527

livercarcinomaSubstitution - Missense

c.167G>T; p.R56L; 3:181712527-181712527

livercarcinomaSubstitution - Missense

c.954A>G; p.*318W; 3:181713314-181713314

livercarcinomaNonstop extension

c.954A>G; p.*318W; 3:181713314-181713314

livercarcinomaNonstop extension

c.91G>T; p.G31C; 3:181712451-181712451

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.656G>T; p.G219V; 3:181713016-181713016

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.133A>T; p.M45L; 3:181712493-181712493

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.430G>C; p.G144R; 3:181712790-181712790

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.859G>A; p.A287T; 3:181713219-181713219

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.576G>A; p.A192A; 3:181712936-181712936

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.337C>T; p.R113W; 3:181712697-181712697

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.337C>T; p.R113W; 3:181712697-181712697

pancreascarcinomaSubstitution - Missense

c.630G>C; p.M210I; 3:181712990-181712990

skin; extremitymalignant_melanomaSubstitution - Missense

c.897G>A; p.Q299Q; 3:181713257-181713257

skinmalignant_melanomaSubstitution - coding silent

c.160G>A; p.G54R; 3:181712520-181712520

skinmalignant_melanomaSubstitution - Missense

c.678C>T; p.S226S; 3:181713038-181713038

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.919G>C; p.A307P; 3:181713279-181713279

soft_tissue; fatliposarcoma; myxoid-round_cellSubstitution - Missense

c.353C>T; p.T118M; 3:181712713-181712713

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.267G>A; p.P89P; 3:181712627-181712627

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.753delC; p.P253fs*21; 3:181713113-181713113

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.395T>C; p.L132P; 3:181712755-181712755

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.248C>T; p.S83L; 3:181712608-181712608

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.791C>T; p.P264L; 3:181713151-181713151

thyroidother; neoplasmSubstitution - Missense

c.793T>A; p.C265S; 3:181713153-181713153

thyroidother; neoplasmSubstitution - Missense

c.319G>C; p.D107H; 3:181712679-181712679

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.664A>C; p.T222P; 3:181713024-181713024

urinary_tract; bladdercarcinomaSubstitution - Missense

c.805G>T; p.D269Y; 3:181713165-181713165

urinary_tract; bladdercarcinomaSubstitution - Missense