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.S115A

c.343T>G

Surrounding Variants

4 papers

NM_000061.3

p.S115F

c.344C>T

1 paper

NM_000061.3

p.S115Y

c.344C>A

1 paper

NM_000061.3

p.F114V

c.340T>G

3 papers

NM_000061.3

p.P116L

c.347C>T

2 papers

NM_000061.3

p.P116insFs

c.347_348insA

2 papers

NM_000061.3

p.V113G

c.338T>G

8 papers

NM_000061.3

p.V113D

c.338T>A

1 paper

NM_000061.3

p.F114_P116delFs

c.340_347del8

2 papers

NM_000061.3

p.V113I

c.337G>A

10 papers

NM_000061.3

p.T117P

c.349A>C

3 papers

NM_000061.3

p.Y112*

c.336C>G

1 paper

NM_000061.3

p.Y112fs

c.334_335fs