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.P225R

c.674C>G

Surrounding Variants

1 paper

NM_001715.3

p.P225Q

c.674C>A

1 paper

NM_001715.3

p.P225L

c.674C>T

1 paper

NM_001715.3

p.Q226*

c.676C>T

1 paper

NM_001715.3

p.Q226H

c.678G>C

1 paper

NM_001715.3

p.Q226H

c.678G>T

1 paper

NM_001715.3

p.P223P

c.669G>A

1 paper

NM_001715.3

p.P223T

c.667C>A

1 paper

NM_001715.3

p.P228T

c.682C>A

1 paper

NM_001715.3

p.C220Y

c.659G>A

1 paper

NM_001715.3

p.I236fs

c.706_707fs

1 paper

NM_001715.3

p.I236_P237insFs

c.708_709insT

1 paper

NM_001715.3

p.P237P

c.711C>T