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_001287344.2

p.V253delFs

c.757delC

NM_000061.3

p.K218delFs

c.654delC

Surrounding Variants

1 paper

NM_000061.3

p.V219D

c.656T>A

3 papers

NM_001287344.2

p.V253fs

c.757_758fs

NM_000061.3

p.V219fs

c.655_656fs

1 paper

NM_000061.3

p.V219I

c.655G>A

1 paper

NM_000061.3

p.V219_V220insFs

c.657_658insT

1 paper

NM_000061.3

p.K218fs

c.652_653fs

1 paper

NM_000061.3

p.V220M

c.658G>A

3 papers

NM_000061.3

p.K218delFs

c.653delT

1 paper

NM_000061.3

p.K218R

c.653A>G

3 papers

NM_000061.3

p.K218fs

c.652_653fs

2 papers

NM_000061.3

p.L222P

c.665T>C

1 paper

NM_000061.3

p.L216P

c.647T>C

21 papers

NM_000061.3

p.Y223F

c.668A>T