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

2 papers

NM_001715.3

p.L503P

c.1508T>C

Surrounding Variants

4 papers

NM_001715.3

p.Y501F

c.1502A>T

1 paper

NM_001715.3

p.R499P

c.1496G>C

1 paper

NM_001715.3

p.T497A

c.1489A>G

1 paper

NM_001715.3

p.L490delFs

c.1470delG

1 paper

NM_001715.3

p.L490fs

c.1468_1469fs

1 paper

NM_001715.3

p.P481_D492del12

c.1441_1475del36

1 paper

NM_001715.3

p.R480R

c.1438C>A

1 paper

NM_001715.3

p.E478Q

c.1432G>C

1 paper

NM_001715.3

p.E478*

c.1432G>T

1 paper

NM_001715.3

p.R476fs

c.1426_1427fs

1 paper

NM_001715.3

p.R476delFs

c.1427delG

3 papers

NM_001330465.2

p.R403C

c.1207C>T

NM_001715.3

p.R474C

c.1420C>T