Varaico: Literature-Extracted Genetic Variants

BTK

1,389 papers

RefSeq Summary

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure ...

Pfam Domains

PHaa 4–133UCSCPH domain

BTKaa 141–170UCSCBTK motif

SH3_1aa 220–266UCSCSH3 domain

SH2aa 281–355UCSCSH2 domain

SH2aa 281–362UCSCSH2 domain

PK_Tyr_Ser-Thraa 402–651UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Bruton tyrosine kinase

HGNC Previous Symbols

AGMX1; IMD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000061.3

p.V568fs

c.1702_1703fs

Surrounding Variants

1 paper

NM_000061.3

p.V568G

c.1703T>G

4 papers

NM_000061.3

p.L569L

c.1705C>T

3 papers

NM_000061.3

p.L569P

c.1706T>C

1 paper

NM_000061.3

p.V568I

c.1702G>A

1 paper

NM_000061.3

p.E567delFs

c.1701delT

1 paper

NM_000061.3

p.E567D

c.1701A>T

1 paper

NM_000061.3

p.E567D

c.1701A>C

1 paper

NM_000061.3

p.E567insFs

c.1700_1701ins7

1 paper

NM_000061.3

p.E567G

c.1700A>G

1 paper

NM_000061.3

p.E567delins

c.1699_1700delinsAG

1 paper

NM_000061.3

p.E567delFs

c.1699delC

1 paper

NM_000061.3

p.R562_E567Fs

c.1684_1700delinsGGGFs