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.L547P

c.1640T>C

Surrounding Variants

1 paper

NM_000061.3

p.L547Q

c.1640T>A

1 paper

NM_000061.3

p.D548N

c.1642G>A

1 paper

NM_000061.3

p.V546V

c.1638C>G

1 paper

NM_000061.3

p.V546V

c.1638C>A

1 paper

NM_000061.3

p.V546A

c.1637T>C

1 paper

NM_000061.3

p.Y545*

c.1635T>G

1 paper

NM_000061.3

p.Y545*

c.1635T>A

1 paper

NM_000061.3

p.D549N

c.1645G>A

2 papers

NM_000061.3

p.D549V

c.1646A>T

1 paper

NM_000061.3

p.D549A

c.1646A>C

2 papers

NM_000061.3

p.Y545N

c.1633T>A

9 papers

NM_000061.3

p.R544S

c.1632G>T