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

6 papers

NM_000061.3

p.T33I

c.98C>T

Surrounding Variants

1 paper

NM_000061.3

p.T33N

c.98C>A

10 papers

NM_000061.3

p.T33P

c.97A>C

4 papers

NM_000061.3

p.V34M

c.100G>A

7 papers

NM_000061.3

p.L32S

c.95T>C

1 paper

NM_000061.3

p.V34delFs

c.100delC

1 paper

NM_000061.3

p.L29_T33delFs

c.87_99del13

1 paper

NM_000061.3

p.H35Y

c.103C>T

1 paper

NM_000061.3

p.H35D

c.103C>G

2 papers

NM_000061.3

p.L31P

c.92T>C

1 paper

NM_000061.3

p.H35L

c.104A>T

1 paper

NM_000061.3

p.F30L

c.90T>G

1 paper

NM_000061.3

p.F30L

c.90T>A