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.S24C

c.70A>T

Surrounding Variants

1 paper

NM_001715.3

p.W23*

c.69G>A

1 paper

NM_001715.3

p.W23*

c.68G>A

1 paper

NM_001715.3

p.L26V

c.76C>G

1 paper

NM_001715.3

p.K18K

c.54G>A

1 paper

NM_001715.3

p.S29S

c.87C>T

1 paper

NM_001715.3

p.A30delFs

c.88delG

1 paper

NM_001715.3

p.A30T

c.88G>A

1 paper

NM_001715.3

p.A30A

c.90C>T

2 papers

NM_001715.3

p.Q31E

c.91C>G

1 paper

NM_001715.3

p.D32N

c.94G>A

2 papers

NM_001715.3

p.P14L

c.41C>T

1 paper

NM_001715.3

p.A35D

c.104C>A