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.K433*

c.1297A>T

Surrounding Variants

1 paper

NM_000061.3

p.I432delins

c.1296delinsAAAAAAA

1 paper

NM_000061.3

p.K433R

c.1298A>G

1 paper

NM_000061.3

p.K433T

c.1298A>C

2 papers

NM_000061.3

p.E434K

c.1300G>A

1 paper

NM_000061.3

p.I432L

c.1294A>C

1 paper

NM_000061.3

p.K430N

c.1290G>T

1 paper

NM_000061.3

p.K430N

c.1290G>C

47 papers

NM_000061.3

p.K430R

c.1289A>G

1 paper

NM_000061.3

p.S436P

c.1306T>C

3 papers

NM_000061.3

p.K430*

c.1288A>T

33 papers

NM_000061.3

p.K430E

c.1288A>G

1 paper

NM_000061.3

p.S436insFs

c.1307_1308insA