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.I344insFs

c.1031dupT

Surrounding Variants

1 paper

NM_001715.3

p.I344fs

c.1030_1031fs

1 paper

NM_001715.3

p.A345T

c.1033G>A

1 paper

NM_001715.3

p.Q343_I344Splc

c.1030-6C>T

1 paper

NM_001715.3

p.A349T

c.1045G>A

1 paper

NM_001715.3

p.A349V

c.1046C>T

1 paper

NM_001715.3

p.Y350H

c.1048T>C

1 paper

NM_001715.3

p.Y350C

c.1049A>G

10 papers

NM_001715.3

p.R359C

c.1075C>T

1 paper

NM_001715.3

p.D360delFs

c.1080delC

1 paper

NM_001715.3

p.D360E

c.1080C>A

1 paper

NM_001715.3

p.D360E

c.1080C>G

1 paper

NM_001715.3

p.L361L

c.1083G>C