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

37 papers

NM_000061.3

p.R288W

c.862C>T

Surrounding Variants

1 paper

NM_000061.3

p.R288P

c.863G>C

29 papers

NM_000061.3

p.R288Q

c.863G>A

1 paper

NM_000061.3

p.T287A

c.859A>G

1 paper

NM_000061.3

p.M286I

c.858G>T

1 paper

NM_000061.3

p.M286I

c.858G>C

1 paper

NM_000061.3

p.S289N

c.866G>A

1 paper

NM_000061.3

p.M286I

c.858G>A

1 paper

NM_000061.3

p.M286_S289delins

c.857_867delinsGGTGGTATTCCAAA

3 papers

NM_000061.3

p.Q290*

c.868C>T

1 paper

NM_000061.3

p.H285R

c.854A>G

1 paper

NM_000061.3

p.H285D

c.853C>G

2 papers

NM_000061.3

p.K284delFs

c.851delT