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.N231H

c.691A>C

Surrounding Variants

6 papers

NM_000061.3

p.A230V

c.689C>T

1 paper

NM_000061.3

p.D232Y

c.694G>T

1 paper

NM_000061.3

p.A230T

c.688G>A

1 paper

NM_000061.3

p.D232V

c.695A>T

1 paper

NM_000061.3

p.N229_D232delFs

c.685_694del10

1 paper

NM_000061.3

p.N229insFs

c.686_687ins4

1 paper

NM_000061.3

p.N229fs

c.685_686fs

1 paper

NM_000061.3

p.D232_L233insFs

c.696_697insT

3 papers

NM_000061.3

p.N229insFs

c.685_686ins4

1 paper

NM_000061.3

p.M228K

c.683T>A

6 papers

NM_000061.3

p.Q234*

c.700C>T

1 paper

NM_000061.3

p.P227S

c.679C>T