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

2 papers

NM_001715.3

p.V113G

c.338T>G

Surrounding Variants

1 paper

NM_001715.3

p.V113fs

c.337_338fs

5 papers

NM_001715.3

p.F112S

c.335T>C

1 paper

NM_001715.3

p.R115*

c.343C>T

1 paper

NM_001715.3

p.R115Q

c.344G>A

1 paper

NM_001715.3

p.S110S

c.330T>C

1 paper

NM_001715.3

p.S118S

c.354C>T

1 paper

NM_001715.3

p.V108L

c.322G>T

1 paper

NM_001715.3

p.Y107*

c.321T>A

1 paper

NM_001715.3

p.Y107*

c.321T>G

2 papers

NM_001715.3

p.M121I

c.363G>A

1 paper

NM_001715.3

p.M121I

c.363G>C

1 paper

NM_001715.3

p.M121I

c.363G>T