Varaico: Literature-Extracted Genetic Variants

BLK

230 papers

RefSeq Summary

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor si...

Pfam Domains

SH3_1aa 64–110UCSCSH3 domain

SH2aa 124–205UCSCSH2 domain

PK_Tyr_Ser-Thraa 241–490UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

BLK proto-oncogene, Src family tyrosine kinase

HGNC Alias Symbol

MGC10442

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001715.3

p.A65A

c.195T>C

Surrounding Variants

1 paper

NM_001715.3

p.L66delFs

c.197delT

1 paper

NM_001715.3

p.Y67H

c.199T>C

2 papers

NM_001715.3

p.V63M

c.187G>A

1 paper

NM_001715.3

p.Y69*

c.207C>A

37 papers

NM_001715.3

p.A71T

c.211G>A

1 paper

NM_001715.3

p.D59E

c.177C>G

2 papers

NM_001715.3

p.R75G

c.223C>G

1 paper

NM_001715.3

p.D76N

c.226G>A

1 paper

NM_001715.3

p.L77M

c.229C>A

1 paper

NM_001715.3

p.L77P

c.230T>C

1 paper

NM_001715.3

p.L80P

c.239T>C

1 paper

NM_001715.3

p.K81fs

c.241_242fs