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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 6711 |
Name | SPTBN1 |
Synonymous | ELF|SPTB2|betaSpII;spectrin, beta, non-erythrocytic 1;SPTBN1;spectrin, beta, non-erythrocytic 1 |
Definition | beta-G spectrin|beta-II spectrin|beta-fodrin|beta-spectrin 2|beta-spectrin II|embryonic liver beta-fodrin|fodrin beta chain|spectrin beta chain, brain 1|spectrin, non-erythroid beta chain 1 |
Position | 2p21 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.3102G>C; 2:54711790-54711790 |
breast | ductal_carcinoma; carcinoma |
Substitution - coding silent; c.1251G>A; |
y; skin; arm | malignant_melanoma |
Substitution - coding silent; c.4941C>T; 2:54727846-54727846 |
y; ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.6300G>A; |
y; stomach | adenocarcinoma; carcinoma |
Substitution - coding silent; c.3327C>T; |
y; stomach | adenocarcinoma; carcinoma |
Substitution - coding silent; c.3210C>T; 2:54711898-54711898 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.2007C>T; 2:54709782-54709782 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.3333C>T; |
y; breast | carcinoma |
Indel | | Top | |
There is no record for SPTBN1 |
Other Mutation | | Top | |
There is no record for SPTBN1 |