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.E245D

c.735G>C

Surrounding Variants

1 paper

NM_000061.3

p.E245D

c.735G>T

1 paper

NM_000061.3

p.Y241_E245del5

c.721_734del15

1 paper

NM_000061.3

p.E245G

c.734A>G

1 paper

NM_000061.3

p.L244del1

c.730_731delCAA

1 paper

NM_000061.3

p.L244*

c.731T>A

1 paper

NM_000061.3

p.R236_E246del11

c.706_737del33

1 paper

NM_000061.3

p.Y241_I243delFs

c.722_728del7

1 paper

NM_000061.3

p.N248S

c.743A>G

4 papers

NM_000061.3

p.F242insFs

c.726dupT

1 paper

NM_000061.3

p.N248K

c.744C>G

1 paper

NM_000061.3

p.N248K

c.744C>A

1 paper

NM_000061.3

p.L249I

c.745T>A