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.Y476N

c.1426T>A

Surrounding Variants

4 papers

NM_000061.3

p.Y476D

c.1426T>G

1 paper

NM_000061.3

p.Y476S

c.1427A>C

1 paper

NM_000061.3

p.E475*

c.1423G>T

1 paper

NM_000061.3

p.I470_T474del5

c.1408_1421del15

1 paper

NM_000061.3

p.T474insFs

c.1421dupC

1 paper

NM_000061.3

p.I473_T474insFs

c.1417_1421dup5

6 papers

NM_000061.3

p.M477R

c.1430T>G

5 papers

NM_000061.3

p.M477I

c.1431G>T

5 papers

NM_000061.3

p.M477I

c.1431G>C

5 papers

NM_000061.3

p.M477I

c.1431G>A

1 paper

NM_000061.3

p.M477delFs

c.1430delA

1 paper

NM_000061.3

p.T474_M477delins

c.1421_1431delinsTTGAGTACATC