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.E396A

c.1187A>C

Surrounding Variants

1 paper

NM_000061.3

p.E396delFs

c.1186delC

1 paper

NM_000061.3

p.E396*

c.1186G>T

1 paper

NM_000061.3

p.E396K

c.1186G>A

1 paper

NM_000061.3

p.W395fs

c.1183_1184fs

2 papers

NM_000061.3

p.W395*

c.1185G>A

2 papers

NM_000061.3

p.W395*

c.1184G>A

1 paper

NM_000061.3

p.S394_W395insFs

c.1182_1183insT

4 papers

NM_000061.3

p.S394*

c.1181C>G

4 papers

NM_000061.3

p.S394*

c.1181C>A

1 paper

NM_000061.3

p.S394fs

c.1180_1181fs

1 paper

NM_000061.3

p.G393A

c.1178G>C

1 paper

NM_000061.3

p.G393Splc

c.1178-1G>T