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

6 papers

NM_000061.3

p.V535F

c.1603G>T

Surrounding Variants

2 papers

NM_000061.3

p.K536_V537insFs

c.1608_1609insA

6 papers

NM_000061.3

p.V537I

c.1609G>A

3 papers

NM_000061.3

p.V537fs

c.1609_1610fs

2 papers

NM_000061.3

p.V537E

c.1610T>A

3 papers

NM_000061.3

p.V537delFs

c.1610delA

2 papers

NM_000061.3

p.S538A

c.1612T>G

4 papers

NM_000061.3

p.S538P

c.1612T>C

2 papers

NM_000061.3

p.Q532*

c.1594C>T

1 paper

NM_000061.3

p.D531E

c.1593T>G

1 paper

NM_000061.3

p.D531E

c.1593T>A

1 paper

NM_000061.3

p.D531A

c.1592A>C

1 paper

NM_000061.3

p.N530ins1

c.1589_1590insACC