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.G584Splc

c.1750+1G>T

Surrounding Variants

1 paper

NM_000061.3

p.G584Splc

c.1750+1G>C

4 papers

NM_000061.3

p.G584Splc

c.1750+1G>A

6 papers

NM_000061.3

p.G584Splc

c.1750+2T>C

1 paper

NM_000061.3

p.G584W

c.1750G>T

1 paper

NM_000061.3

p.G584R

c.1750G>C

5 papers

NM_000061.3

p.G584R

c.1750G>A

2 papers

NM_000061.3

p.F583delFs

c.1749delA

5 papers

NM_000061.3

p.F583L

c.1749T>G

5 papers

NM_000061.3

p.F583L

c.1749T>A

1 paper

NM_000061.3

p.G584Splc

c.1750+3A>C

5 papers

NM_000061.3

p.F583S

c.1748T>C

1 paper

NM_000061.3

p.F583V

c.1747T>G