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.V317G

c.950T>G

Surrounding Variants

2 papers

NM_000061.3

p.V317delFs

c.949delC

1 paper

NM_000061.3

p.V317insFs

c.949_950insC

1 paper

NM_000061.3

p.V317fs

c.949_950fs

1 paper

NM_000061.3

p.T316delFs

c.948delT

1 paper

NM_000061.3

p.T316delFs

c.947_948delTG

2 papers

NM_000061.3

p.S318insFs

c.952_953insA

2 papers

NM_000061.3

p.S318P

c.952T>C

1 paper

NM_000061.3

p.S318fs

c.952_953fs

3 papers

NM_000061.3

p.S318F

c.953C>T

1 paper

NM_000061.3

p.S318S

c.954T>C

1 paper

NM_000061.3

p.T316S

c.946A>T

42 papers

NM_000061.3

p.T316A

c.946A>G