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.E301fs

c.901_902fs

Surrounding Variants

1 paper

NM_000061.3

p.E301K

c.901G>A

1 paper

NM_000061.3

p.K300delFs

c.900delT

2 papers

NM_000061.3

p.E301A

c.902A>C

1 paper

NM_000061.3

p.E301E

c.903A>G

7 papers

NM_000061.3

p.G302R

c.904G>C

8 papers

NM_000061.3

p.G302R

c.904G>A

1 paper

NM_000061.3

p.G299delFs

c.897delC

8 papers

NM_000061.3

p.G302E

c.905G>A

5 papers

NM_000061.3

p.E301del1

c.901_902delTTC

1 paper

NM_000061.3

p.G299R

c.895G>A

7 papers

NM_000061.3

p.G302del1

c.904_905delTCC

4 papers

NM_000061.3

p.E298_G299Splc

c.895-2A>G