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

4 papers

NM_000061.3

p.Y42*

c.126T>G

Surrounding Variants

4 papers

NM_000061.3

p.Y42*

c.126T>A

1 paper

NM_000061.3

p.D43H

c.127G>C

1 paper

NM_000061.3

p.D43N

c.127G>A

2 papers

NM_000061.3

p.Y42delFs

c.126delA

1 paper

NM_000061.3

p.Y42D

c.124T>G

1 paper

NM_000061.3

p.Y42N

c.124T>A

1 paper

NM_000061.3

p.Y42fs

c.124_125fs

1 paper

NM_000061.3

p.E41E

c.123G>A

3 papers

NM_000061.3

p.E41V

c.122A>T

1 paper

NM_000061.3

p.F44Y

c.131T>A

1 paper

NM_000061.3

p.Y42_D43delFs

c.126_129del4

82 papers

NM_000061.3

p.E41K

c.121G>A

NM_001287344.2

p.E75K

c.223G>A