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.F442insFs

c.1325dupT

Surrounding Variants

1 paper

NM_000061.3

p.I443fs

c.1327_1328fs

1 paper

NM_000061.3

p.I443T

c.1328T>C

1 paper

NM_000061.3

p.E441A

c.1322A>C

4 papers

NM_000061.3

p.E441*

c.1321G>T

1 paper

NM_000061.3

p.E441K

c.1321G>A

1 paper

NM_000061.3

p.E445K

c.1333G>A

1 paper

NM_000061.3

p.D440V

c.1319A>T

1 paper

NM_000061.3

p.D440H

c.1318G>C

1 paper

NM_000061.3

p.E445V

c.1334A>T

1 paper

NM_000061.3

p.E445A

c.1334A>C

4 papers

NM_000061.3

p.E445D

c.1335A>T

4 papers

NM_000061.3

p.E445D

c.1335A>C