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.C481delins

c.1442_1443delinsAT

Surrounding Variants

2 papers

NM_000061.3

p.C481C

c.1443C>T

2 papers

NM_000061.3

p.C481W

c.1443C>G

9 papers

NM_000061.3

p.C481*

c.1443C>A

5 papers

NM_000061.3

p.C481delins

c.1442_1443delinsCT

1 paper

NM_000061.3

p.C481delins

c.1442_1443delinsCG

1 paper

NM_000061.3

p.G480_C481delFs

c.1438_1442del5

48 papers

NM_000061.3

p.C481F

c.1442G>T

237 papers

NM_000061.3

p.C481S

c.1442G>C

NM_001287344.2

p.C515S

c.1544G>C

49 papers

NM_000061.3

p.C481Y

c.1442G>A

1 paper

NM_000061.3

p.A478_C481delins

c.1433_1442delinsTCAATGGCTC

7 papers

NM_000061.3

p.C481G

c.1441T>G

1 paper

NM_000061.3

p.L482R

c.1445T>G