| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4747 |
Name | NEFL |
Synonymous | CMT1F|CMT2E|NF-L|NF68|NFL;neurofilament, light polypeptide;NEFL;neurofilament, light polypeptide |
Definition | 68 kDa neurofilament protein|light molecular weight neurofilament protein|neurofilament light polypeptide|neurofilament protein, light chain|neurofilament subunit NF-L|neurofilament triplet L protein|neurofilament, light polypeptide 68kDa|neurofilament-li |
Position | 8p21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NEFL | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
NEFL_E4_UTR_3; chr8; 24808581 |
SUB; UTR_3; T; T/C; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.95G>A; p.G32D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1496A>C; p.K499T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1044+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.788C>T; p.A263V; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.134C>T; p.A45V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.585G>T; p.A195A; |
lung | carcinoma; adenocarcinoma |
c.515G>A; p.R172H; |
lung | carcinoma; adenocarcinoma |
c.381G>T; p.Q127H; |
lung | carcinoma; adenocarcinoma |
c.1420G>A; p.G474R; |
skin; trunk | malignant_melanoma |
c.476C>A; p.A159E; |
skin; trunk | malignant_melanoma |
c.1314C>T; p.S438S; |
lung | carcinoma; squamous_cell_carcinoma |
c.128A>G; p.Y43C; |
ovary | carcinoma; serous_carcinoma |
c.1261C>T; p.R421*; |
lung | carcinoma; adenocarcinoma |
c.515G>A; p.R172H; |
lung | carcinoma; adenocarcinoma |
c.793T>A; p.Y265N; |
lung | carcinoma; adenocarcinoma |
c.795C>T; p.Y265Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1459G>A; p.E487K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1111G>T; p.E371*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.682G>A; p.E228K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.232G>A; p.A78T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1519G>T; p.E507*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.322G>A; p.V108M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1356C>T; p.I452I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.796G>A; p.E266K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.633G>A; p.K211K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1519G>T; p.E507*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.720C>T; p.Y240Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1111G>T; p.E371*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.745G>A; p.V249M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.561C>T; p.D187D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1244G>T; p.S415I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.770C>T; p.A257V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.515G>A; p.R172H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1158T>C; p.I386I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.491G>A; p.R164H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1155G>T; p.E385D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1058A>C; p.K353T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.827C>T; p.A276V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.757G>A; p.D253N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.826G>A; p.A276T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.726G>T; p.Q242H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1529_1531delAAG; p.E510delE; |
endometrium | carcinoma; endometrioid_carcinoma |
c.150G>A; p.S50S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1128C>G; p.L376L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.515G>A; p.R172H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.243C>T; p.N81N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.626T>C; p.L209P; |
prostate | carcinoma |