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

3 papers

NM_000061.3

p.S553fs

c.1657_1658fs

Surrounding Variants

1 paper

NM_000061.3

p.S553C

c.1657A>T

2 papers

NM_000061.3

p.S553R

c.1657A>C

2 papers

NM_000061.3

p.S553insFs

c.1657_1658insCA

3 papers

NM_000061.3

p.S553delFs

c.1657delT

2 papers

NM_000061.3

p.S553R

c.1659C>G

2 papers

NM_000061.3

p.S553R

c.1659C>A

1 paper

NM_000061.3

p.S554P

c.1660T>C

1 paper

NM_000061.3

p.T552P

c.1654A>C

1 paper

NM_000061.3

p.S554*

c.1661C>G

1 paper

NM_000061.3

p.S554*

c.1661C>A

26 papers

NM_000061.3

p.Y551F

c.1652A>T

7 papers

NM_000061.3

p.Y551H

c.1651T>C