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.Q239L

c.716A>T

Surrounding Variants

1 paper

NM_001715.3

p.Q239*

c.715C>T

1 paper

NM_001715.3

p.Q239H

c.717G>C

1 paper

NM_001715.3

p.Q239H

c.717G>T

11 papers

NM_001715.3

p.R238Q

c.713G>A

1 paper

NM_001715.3

p.L241V

c.721C>G

1 paper

NM_001715.3

p.P237P

c.711C>T

1 paper

NM_001715.3

p.I236_P237insFs

c.708_709insT

1 paper

NM_001715.3

p.I236fs

c.706_707fs

1 paper

NM_001715.3

p.V244_R245insFs

c.732_733insG

1 paper

NM_001715.3

p.L247V

c.739C>G

1 paper

NM_001715.3

p.G248delFs

c.742delG

3 papers

NM_001715.3

p.G248R

c.742G>A