| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 474382 |
Name | H2AFB1 |
Synonymous | H2A histone family, member B1;H2AFB1;H2A histone family, member B1 |
Definition | H2A Barr body-deficient|histone H2A-Bbd type 1 |
Position | Xq28 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.168C>T; p.L56L; 23:154885217-154885217 |
ovary | other; neoplasm | Substitution - coding silent |
c.204G>A; p.P68P; 23:154885253-154885253 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.139C>A; p.R47S; 23:154885188-154885188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.216C>T; p.G72G; 23:154885265-154885265 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.212C>T; p.A71V; 23:154885261-154885261 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.54G>T; p.R18R; 23:154885103-154885103 |
skin | malignant_melanoma | Substitution - coding silent |
c.12G>T; p.R4S; 23:154885061-154885061 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6_8delGAG; p.R8delR; 23:154885055-154885057 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.144G>A; p.L48L; 23:154885193-154885193 |
breast | carcinoma | Substitution - coding silent |