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.D256G

c.767A>G

Surrounding Variants

1 paper

NM_000061.3

p.R255Q

c.764G>A

34 papers

NM_000061.3

p.R255*

c.763C>T

1 paper

NM_000061.3

p.G259Splc

c.776+1G>T

3 papers

NM_000061.3

p.G259Splc

c.776+1G>A

2 papers

NM_000061.3

p.G259Splc

c.776+2T>G

1 paper

NM_000061.3

p.G259Splc

c.776+2T>C

8 papers

NM_000061.3

p.W252*

c.756G>A

8 papers

NM_000061.3

p.W252*

c.755G>A

1 paper

NM_000061.3

p.W251delFs

c.753delC

10 papers

NM_000061.3

p.W251*

c.753G>A

1 paper

NM_000061.3

p.G259Splc

c.776+5G>A

2 papers

NM_000061.3

p.W251L

c.752G>T