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.L542L

c.1624C>T

Surrounding Variants

3 papers

NM_000061.3

p.L542M

c.1624C>A

5 papers

NM_000061.3

p.L542P

c.1625T>C

5 papers

NM_000061.3

p.G541D

c.1622G>A

1 paper

NM_000061.3

p.S543P

c.1627T>C

5 papers

NM_000061.3

p.S543T

c.1627T>A

1 paper

NM_001287344.2

p.G575C

c.1723G>T

1 paper

NM_001287344.2

p.F574F

c.1722C>T

1 paper

NM_000061.3

p.S543insFs

c.1628_1629insT

3 papers

NM_000061.3

p.F540S

c.1619T>C

1 paper

NM_000061.3

p.R544fs

c.1630_1631fs

4 papers

NM_000061.3

p.R544G

c.1630A>G

1 paper

NM_000061.3

p.R544T

c.1631G>C