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.L3delFs

c.7delC

Surrounding Variants

1 paper

NM_001715.3

p.L3fs

c.7_8fs

1 paper

NM_001715.3

p.G2V

c.5G>T

1 paper

NM_001715.3

p.G2W

c.4G>T

3 papers

NM_001715.3

p.L3P

c.8T>C

1 paper

NM_001715.3

p.M1T

c.2T>C

1 paper

NM_001715.3

p.P9Q

c.26C>A

1 paper

NM_001715.3

p.P9L

c.26C>T

1 paper

NM_001715.3

p.K11N

c.33G>C

1 paper

NM_001715.3

p.K11N

c.33G>T

2 papers

NM_001715.3

p.P14L

c.41C>T

1 paper

NM_001715.3

p.K18K

c.54G>A

1 paper

NM_001715.3

p.W23*

c.68G>A