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

5 papers

NM_000061.3

p.F413L

c.1239T>G

Surrounding Variants

5 papers

NM_000061.3

p.F413L

c.1239T>A

1 paper

NM_000061.3

p.G414W

c.1240G>T

8 papers

NM_000061.3

p.G414R

c.1240G>C

8 papers

NM_000061.3

p.G414R

c.1240G>A

5 papers

NM_000061.3

p.F413L

c.1237T>C

1 paper

NM_000061.3

p.V415A

c.1244T>C

1 paper

NM_000061.3

p.V415delFs

c.1243delC

1 paper

NM_000061.3

p.G409_V415del0

c.1226_1243del18

4 papers

NM_000061.3

p.Q412*

c.1234C>T

29 papers

NM_000061.3

p.V416L

c.1246G>T

1 paper

NM_000061.3

p.G411V

c.1232G>T

29 papers

NM_000061.3

p.V416L

c.1246G>C