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.M450Splc

c.1349+4A>G

Surrounding Variants

7 papers

NM_000061.3

p.M450Splc

c.1349+5G>A

4 papers

NM_000061.3

p.M450Splc

c.1349+6T>G

3 papers

NM_000061.3

p.M450Splc

c.1349+2T>C

3 papers

NM_000061.3

p.M450Splc

c.1349+1G>A

2 papers

NM_000061.3

p.M449I

c.1347G>T

2 papers

NM_000061.3

p.M449I

c.1347G>C

2 papers

NM_000061.3

p.M449I

c.1347G>A

2 papers

NM_000061.3

p.M449delFs

c.1346delA

1 paper

NM_000061.3

p.V448delFs

c.1344delG

1 paper

NM_000061.3

p.V448I

c.1342G>A

1 paper

NM_000061.3

p.K447delFs

c.1340_1341delTT

1 paper

NM_000061.3

p.K447fs

c.1339_1340fs