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.E152Q

c.454G>C

Surrounding Variants

1 paper

NM_001715.3

p.E152E

c.456G>A

1 paper

NM_001715.3

p.I150_R151insFs

c.450_451insAG

1 paper

NM_001715.3

p.I150I

c.450C>T

1 paper

NM_001715.3

p.I150N

c.449T>A

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.S147F

c.440C>T

1 paper

NM_001715.3

p.G146V

c.437G>T

1 paper

NM_001715.3

p.G158Splc

c.472+1G>C

1 paper

NM_001715.3

p.L138F

c.412C>T

1 paper

NM_001330465.2

p.R65T

c.194G>C

1 paper

NM_001715.3

p.A134D

c.401C>A