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.V561Fs

c.1682_1683delinsAFs

Surrounding Variants

1 paper

NM_000061.3

p.V561A

c.1682T>C

1 paper

NM_000061.3

p.V561D

c.1682T>A

35 papers

NM_000061.3

p.R562W

c.1684C>T

4 papers

NM_000061.3

p.R562L

c.1685G>T

12 papers

NM_000061.3

p.R562P

c.1685G>C

4 papers

NM_000061.3

p.R562Q

c.1685G>A

1 paper

NM_000061.3

p.R562Fs

c.1684_1685delinsTFs

1 paper

NM_000061.3

p.K558_P560delFs

c.1673_1680del8

1 paper

NM_000061.3

p.P560delFs

c.1679delG

1 paper

NM_000061.3

p.W563fs

c.1687_1688fs

1 paper

NM_000061.3

p.P560L

c.1679C>T

7 papers

NM_000061.3

p.W563L

c.1688G>T