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.R446G

c.1336C>G

Surrounding Variants

1 paper

NM_001715.3

p.E449_Y452del4

c.1345_1355del12

1 paper

NM_001715.3

p.E443delFs

c.1327delG

1 paper

NM_001715.3

p.R450_G451insAG

c.1348_1352ins6

3 papers

NM_001715.3

p.R450H

c.1349G>A

1 paper

NM_001715.3

p.N441D

c.1321A>G

1 paper

NM_001715.3

p.G451S

c.1351G>A

1 paper

NM_001715.3

p.G438Splc

c.1313-1G>A

1 paper

NM_001715.3

p.R456C

c.1366C>T

1 paper

NM_001715.3

p.R456R

c.1368C>T

1 paper

NM_001715.3

p.P457A

c.1369C>G

1 paper

NM_001715.3

p.P462fs

c.1384_1385fs

1 paper

NM_001715.3

p.P462_E463insFs

c.1386_1387ins5