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.P210delFs

c.629delG

Surrounding Variants

2 papers

NM_000061.3

p.V211I

c.631G>A

1 paper

NM_000061.3

p.P210L

c.629C>T

1 paper

NM_000061.3

p.P210insFs

c.629_630insA

1 paper

NM_000061.3

p.P210T

c.628C>A

2 papers

NM_000061.3

p.P210fs

c.628_629fs

1 paper

NM_000061.3

p.A209S

c.625G>T

1 paper

NM_000061.3

p.T213_S214insT

c.637_641ins3

1 paper

NM_000061.3

p.A208T

c.622G>A

1 paper

NM_000061.3

p.A207delFs

c.620_621delTG

1 paper

NM_000061.3

p.A207A

c.621A>T

1 paper

NM_000061.3

p.A207S

c.619G>T

1 paper

NM_000061.3

p.A207Fs

c.619delinsATGGTCFs