| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 1410 |
Name | CRYAB |
Synonymous | crystallin, alpha B;CRYAB;crystallin, alpha B |
Definition | alpha-crystallin B chain|epididymis secretory protein Li 101|heat shock protein beta-5|heat-shock 20 kD like-protein|renal carcinoma antigen NY-REN-27|rosenthal fiber component |
Position | 11q22.3-q23.1 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.243G>T; p.V81V; 11:111910408-111910408 |
breast | carcinoma | Substitution - coding silent |
c.319C>T; p.R107C; 11:111910332-111910332 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.349G>C; p.E117Q; 11:111908943-111908943 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.267C>A; p.L89L; 11:111910384-111910384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.324+4T>G; p.?; 11:111910323-111910323 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.366C>T; p.Y122Y; 11:111908926-111908926 |
kidney | other; neoplasm | Substitution - coding silent |
c.32G>A; p.R11H; 11:111911693-111911693 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.32G>A; p.R11H; 11:111911693-111911693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.35G>A; p.R12H; 11:111911690-111911690 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.488G>A; p.R163H; 11:111908804-111908804 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.263A>G; p.E88G; 11:111910388-111910388 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>A; p.A171T; 11:111908781-111908781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.469C>T; p.R157C; 11:111908823-111908823 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.402T>G; p.T134T; 11:111908890-111908890 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.413C>T; p.S138L; 11:111908879-111908879 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.195C>G; p.L65L; 11:111911530-111911530 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.409C>A; p.L137M; 11:111908883-111908883 |
skin | malignant_melanoma | Substitution - Missense |
c.368G>A; p.R123Q; 11:111908924-111908924 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.368G>A; p.R123Q; 11:111908924-111908924 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.456C>T; p.V152V; 11:111908836-111908836 |
skin | malignant_melanoma | Substitution - coding silent |
c.137C>T; p.P46L; 11:111911588-111911588 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.322C>A; p.Q108K; 11:111910329-111910329 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.72T>G; p.F24L; 11:111911653-111911653 |
skin | malignant_melanoma | Substitution - Missense |
c.102G>A; p.E34E; 11:111911623-111911623 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.194T>G; p.L65R; 11:111911531-111911531 |
stomach | adenocarcinoma | Substitution - Missense |