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_001287344.2

p.L57L

c.169C>T

Surrounding Variants

1 paper

NM_000061.3

p.L23P

c.68T>C

1 paper

NM_000061.3

p.P22P

c.66T>A

1 paper

NM_000061.3

p.P22_L23delFs

c.64_67del4

1 paper

NM_000061.3

p.P22S

c.64C>T

2 papers

NM_000061.3

p.P22A

c.64C>G

1 paper

NM_000061.3

p.N24Y

c.70A>T

5 papers

NM_000061.3

p.N24D

c.70A>G

1 paper

NM_000061.3

p.N24S

c.71A>G

1 paper

NM_000061.3

p.N24K

c.72C>G

1 paper

NM_000061.3

p.S21*

c.62C>G

1 paper

NM_000061.3

p.N24K

c.72C>A

1 paper

NM_000061.3

p.S21*

c.62C>A