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.A2V

c.5C>T

Surrounding Variants

1 paper

NM_000061.3

p.M1del1

c.1_2delCAT

1 paper

NM_000061.3

p.A2fs

c.4_5fs

2 papers

NM_000061.3

p.M1I

c.3G>T

1 paper

NM_000061.3

p.M1_A2insFs

c.3_4insT

1 paper

NM_000061.3

p.M1_A2insFs

c.3_4insA

1 paper

NM_000061.3

p.A3T

c.7G>A

1 paper

NM_000061.3

p.M1delFs

c.2delA

2 papers

NM_000061.3

p.M1R

c.2T>G

9 papers

NM_000061.3

p.M1T

c.2T>C

2 papers

NM_000061.3

p.M1K

c.2T>A

1 paper

NM_000061.3

p.M1delFs

c.1delT

1 paper

NM_000061.3

p.A3V

c.8C>T