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.D107E

c.321T>A

Surrounding Variants

2 papers

NM_000061.3

p.E108*

c.322G>T

1 paper

NM_000061.3

p.E108_G109insG

c.322_326ins3

2 papers

NM_000061.3

p.E108K

c.322G>A

2 papers

NM_000061.3

p.Y106*

c.318T>G

3 papers

NM_000061.3

p.Y106*

c.318T>A

38 papers

NM_000061.3

p.Y106N

c.316T>A

1 paper

NM_000061.3

p.G109A

c.326G>C

1 paper

NM_000061.3

p.G109ins4

c.326_327ins12

1 paper

NM_000061.3

p.G109G

c.327G>C

1 paper

NM_000061.3

p.G109delFs

c.325delC

1 paper

NM_000061.3

p.P110L

c.329C>T

1 paper

NM_000061.3

p.V104G

c.311T>G