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_000061.3

p.S575R

c.1725C>G

Surrounding Variants

4 papers

NM_000061.3

p.S575R

c.1725C>A

4 papers

NM_000061.3

p.S575R

c.1723A>C

1 paper

NM_000061.3

p.F574L

c.1722C>G

1 paper

NM_000061.3

p.F574L

c.1722C>A

1 paper

NM_000061.3

p.F574L

c.1720T>C

1 paper

NM_000061.3

p.F574fs

c.1720_1721fs

1 paper

NM_000061.3

p.K577I

c.1730A>T

5 papers

NM_000061.3

p.K577N

c.1731A>T

5 papers

NM_000061.3

p.K577N

c.1731A>C

5 papers

NM_000061.3

p.S578P

c.1732T>C

1 paper

NM_000061.3

p.K577delFs

c.1731delT

1 paper

NM_000061.3

p.K573R

c.1718A>G