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.F30L

c.88T>C

Surrounding Variants

1 paper

NM_000061.3

p.F30S

c.89T>C

1 paper

NM_000061.3

p.R28insFs

c.84dupC

2 papers

NM_000061.3

p.L29R

c.86T>G

1 paper

NM_000061.3

p.F30L

c.90T>G

1 paper

NM_000061.3

p.F30L

c.90T>A

1 paper

NM_000061.3

p.L29fs

c.85_86fs

1 paper

NM_000061.3

p.L29insFs

c.85_86insGC

1 paper

NM_000061.3

p.L29M

c.85C>A

2 papers

NM_000061.3

p.L31P

c.92T>C

8 papers

NM_000061.3

p.R28L

c.83G>T

7 papers

NM_000061.3

p.R28P

c.83G>C

62 papers

NM_000061.3

p.R28H

c.83G>A