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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 641 |
Name | BLM |
Synonymous | BS|RECQ2|RECQL2|RECQL3;Bloom syndrome, RecQ helicase-like;BLM;Bloom syndrome, RecQ helicase-like |
Definition | Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3 |
Position | 15q26.1 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.4122C>T; |
y; skin; nipple | malignant_melanoma |
Substitution - coding silent; c.1413T>C; |
n; breast | basal_(triple-negative)_carcinoma; carcinoma |
Substitution - coding silent; c.1074C>T; |
y; upper_aerodigestive_tract; mouth | squamous_cell_carcinoma; carcinoma |
Indel | | Top | |
There is no record for BLM |
Other Mutation | | Top | |
There is no record for BLM |