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.G329A

c.986G>C

Surrounding Variants

1 paper

NM_001715.3

p.D327V

c.980A>T

1 paper

NM_001715.3

p.T326P

c.976A>C

6 papers

NM_001715.3

p.K325T

c.974A>C

1 paper

NM_001715.3

p.S333_I338insFs

c.999_1012dup14

1 paper

NM_001715.3

p.P335R

c.1004C>G

1 paper

NM_001715.3

p.C319S

c.956G>C

1 paper

NM_001715.3

p.C319S

c.955T>A

1 paper

NM_001715.3

p.C319_L320del1

c.956_958delGCC

1 paper

NM_001715.3

p.S341L

c.1022C>T

1 paper

NM_001715.3

p.A342V

c.1025C>T

1 paper

NM_001715.3

p.G318Splc

c.953-92G>A

1 paper

NM_001715.3

p.Q343_I344Splc

c.1029+780C>T