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.D308G

c.923A>G

Surrounding Variants

3 papers

NM_000061.3

p.D308E

c.924C>G

3 papers

NM_000061.3

p.D308E

c.924C>A

2 papers

NM_000061.3

p.D308delFs

c.922_923delTC

1 paper

NM_000061.3

p.D308fs

c.922_923fs

1 paper

NM_000061.3

p.S309P

c.925T>C

3 papers

NM_000061.3

p.R307S

c.921A>T

1 paper

NM_000061.3

p.R307R

c.921A>G

3 papers

NM_000061.3

p.R307S

c.921A>C

1 paper

NM_000061.3

p.R307insFs

c.919dupA

7 papers

NM_000061.3

p.R307T

c.920G>C

13 papers

NM_000061.3

p.R307K

c.920G>A

1 paper

NM_000061.3

p.R307*

c.919A>T