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

1–12 of 287 variants

37 papers

NM_001715.3

p.A71T

c.211G>A

12 papers

NM_001715.3

p.R131W

c.391C>T

11 papers

NM_001715.3

p.R238Q

c.713G>A

10 papers

NM_001715.3

p.R359C

c.1075C>T

6 papers

NM_001715.3

p.K325T

c.974A>C

5 papers

NM_001715.3

p.P39L

c.116C>T

5 papers

NM_001715.3

p.F112S

c.335T>C

4 papers

NM_001715.3

p.Y501F

c.1502A>T

3 papers

NM_001715.3

p.L3P

c.8T>C

3 papers

NM_001715.3

p.R123Splc

c.369-2A>G

3 papers

NM_001715.3

p.G248R

c.742G>A

3 papers

NM_001715.3

p.G248R

c.742G>C