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.Q293*

c.877C>T

Surrounding Variants

1 paper

NM_000061.3

p.Q293E

c.877C>G

1 paper

NM_000061.3

p.E292*

c.874G>T

1 paper

NM_000061.3

p.L294M

c.880C>A

1 paper

NM_000061.3

p.A291insFs

c.872dupC

1 paper

NM_000061.3

p.L294P

c.881T>C

9 papers

NM_000061.3

p.L295P

c.884T>C

1 paper

NM_000061.3

p.K296fs

c.886_887fs

3 papers

NM_000061.3

p.Q290*

c.868C>T

1 paper

NM_000061.3

p.K296E

c.886A>G

1 paper

NM_000061.3

p.M286_S289delins

c.857_867delinsGGTGGTATTCCAAA

1 paper

NM_000061.3

p.K296T

c.887A>C

1 paper

NM_000061.3

p.K296K

c.888G>A