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

3 papers

NM_001715.3

p.R123Splc

c.369-2A>G

Surrounding Variants

2 papers

NM_001715.3

p.R131G

c.391C>G

12 papers

NM_001715.3

p.R131W

c.391C>T

1 paper

NM_001715.3

p.R131Q

c.392G>A

1 paper

NM_001715.3

p.E133K

c.397G>A

1 paper

NM_001715.3

p.A134D

c.401C>A

1 paper

NM_001330465.2

p.R65T

c.194G>C

1 paper

NM_001715.3

p.L138F

c.412C>T

1 paper

NM_001715.3

p.G146V

c.437G>T

1 paper

NM_001715.3

p.S147F

c.440C>T

1 paper

NM_001715.3

p.I150fs

c.448_449fs

1 paper

NM_001715.3

p.I150_R151delFs

c.449_452del4

1 paper

NM_001715.3

p.I150N

c.449T>A