Entrez Gene

Basic Information
Gene ID	5216
Name	PFN1
Synonymous	profilin 1;PFN1;profilin 1
Definition	epididymis tissue protein Li 184a\|profilin I\|profilin-1
Position	17p13.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.349G>C; p.E117Q; 17:4945974-4945974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.349G>C; p.E117Q; 17:4945974-4945974	urinary_tract; bladder	carcinoma	Substitution - Missense
c.89_90CC>TT; p.S30F; 17:4948305-4948306	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.39G>T; p.A13A; 17:4948356-4948356	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.328C>A; p.L110I; 17:4945995-4945995	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.163G>T; p.D55Y; 17:4946790-4946790	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.163G>T; p.D55Y; 17:4946790-4946790	urinary_tract; bladder	carcinoma	Substitution - Missense
c.353G>C; p.G118A; 17:4945970-4945970	urinary_tract; bladder	carcinoma	Substitution - Missense
c.353G>C; p.G118A; 17:4945970-4945970	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.334C>T; p.L112L; 17:4945989-4945989	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.313A>G; p.K105E; 17:4946640-4946640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.230C>T; p.S77L; 17:4946723-4946723	NS	NS	Substitution - Missense
c.422G>A; p.141; 17:4945901-4945901	breast	carcinoma	Substitution - coding silent
c.167G>A; p.R56Q; 17:4946786-4946786	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.286G>A; p.A96T; 17:4946667-4946667	urinary_tract; bladder	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]