Entrez Gene

Basic Information
Gene ID	5868
Name	RAB5A
Synonymous	RAB5A, member RAS oncogene family;RAB5A;RAB5A, member RAS oncogene family
Definition	RAS-associated protein RAB5A\|ras-related protein Rab-5A
Position	3p24-p22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.488C>G; p.S163C; 3:19978359-19978359	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.465T>G; p.N155K; 3:19978336-19978336	liver	carcinoma	Substitution - Missense
c.465T>G; p.N155K; 3:19978336-19978336	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.433T>G; p.F145V; 3:19976164-19976164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.463A>T; p.N155Y; 3:19978334-19978334	liver	carcinoma	Substitution - Missense
c.463A>T; p.N155Y; 3:19978334-19978334	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.212T>C; p.F71S; 3:19975649-19975649	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.10C>T; p.R4*; 3:19950908-19950908	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.232G>C; p.G78R; 3:19975669-19975669	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.338A>G; p.N113S; 3:19976069-19976069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.339T>A; p.N113K; 3:19976070-19976070	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.339T>A; p.N113K; 3:19976070-19976070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.339T>A; p.N113K; 3:19976070-19976070	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.34C>G; p.P12A; 3:19950932-19950932	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.16G>A; p.A6T; 3:19950914-19950914	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.30C>T; p.N10N; 3:19950928-19950928	skin	malignant_melanoma	Substitution - coding silent
c.517_518insT; p.F174fs*6; 3:19978388-19978389	NS	malignant_melanoma	Insertion - Frameshift
c.78G>T; p.L26L; 3:19950976-19950976	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.418A>G; p.K140E; 3:19976149-19976149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.404C>T; p.A135V; 3:19976135-19976135	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.516A>C; p.E172D; 3:19978387-19978387	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.101C>T; p.S34L; 3:19950999-19950999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.488C>A; p.S163Y; 3:19978359-19978359	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.391_392ins16; p.A135fs*11; 3:19976122-19976123	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.242G>A; p.R81Q; 3:19975679-19975679	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.306C>T; p.I102I; 3:19975743-19975743	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.371C>T; p.P124L; 3:19976102-19976102	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.490G>A; p.A164T; 3:19978361-19978361	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.405C>T; p.A135A; 3:19976136-19976136	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.565C>T; p.P189S; 3:19983740-19983740	skin	malignant_melanoma	Substitution - Missense
c.336A>G; p.K112K; 3:19976067-19976067	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.268T>A; p.Y90N; 3:19975705-19975705	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.525G>T; p.M175I; 3:19978396-19978396	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.452A>C; p.Y151S; 3:19978323-19978323	urinary_tract; bladder	carcinoma	Substitution - Missense
c.240A>T; p.E80D; 3:19975677-19975677	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.599A>G; p.D200G; 3:19983774-19983774	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.502A>G; p.M168V; 3:19978373-19978373	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.502A>G; p.M168V; 3:19978373-19978373	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.450C>A; p.S150S; 3:19978321-19978321	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]