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

3 papers

NM_000061.3

p.T474N

c.1421C>A

Surrounding Variants

66 papers

NM_000061.3

p.T474I

c.1421C>T

11 papers

NM_000061.3

p.T474S

c.1421C>G

1 paper

NM_000061.3

p.T474insFs

c.1420dupA

3 papers

NM_000061.3

p.T474delins

c.1420_1421delinsTT

1 paper

NM_000061.3

p.T474delins

c.1420_1421delinsCT

1 paper

NM_000061.3

p.T474delins

c.1420_1421delinsTA

1 paper

NM_000061.3

p.T474insFs

c.1421dupC

1 paper

NM_000061.3

p.I473_T474insFs

c.1417_1421dup5

1 paper

NM_000061.3

p.T474fs

c.1420_1421fs

13 papers

NM_000061.3

p.T474S

c.1420A>T

7 papers

NM_000061.3

p.T474A

c.1420A>G

3 papers

NM_000061.3

p.T474P

c.1420A>C