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.I197insFs

c.589_590ins8

Surrounding Variants

1 paper

NM_000061.3

p.I197M

c.591C>G

1 paper

NM_000061.3

p.I197fs

c.589_590fs

1 paper

NM_000061.3

p.L198V

c.592T>G

1 paper

NM_000061.3

p.L198_K199Fs

c.592_595delinsCTAACTACATAFs

1 paper

NM_000061.3

p.K199fs

c.595_596fs

1 paper

NM_000061.3

p.K200E

c.598A>G

1 paper

NM_000061.3

p.Q196_I197Splc

c.589-8C>G

1 paper

NM_000061.3

p.K200M

c.599A>T

1 paper

NM_000061.3

p.K200Fs

c.599delinsGTFs

1 paper

NM_000061.3

p.K200insFs

c.599dupA

3 papers

NM_000061.3

p.Q196_I197Splc

c.589-9A>G

2 papers

NM_000061.3

p.P201S

c.601C>T