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.D401A

c.1202A>C

Surrounding Variants

1 paper

NM_000061.3

p.D401G

c.1202A>G

1 paper

NM_000061.3

p.E396_K400del0

c.1188_1199del12

1 paper

NM_000061.3

p.L402L

c.1204C>T

7 papers

NM_000061.3

p.L402P

c.1205T>C

3 papers

NM_000061.3

p.L402Q

c.1205T>A

1 paper

NM_000061.3

p.L402_T403insFs

c.1206_1207insC

1 paper

NM_000061.3

p.K400E

c.1198A>G

1 paper

NM_000061.3

p.P399P

c.1197A>T

1 paper

NM_000061.3

p.T403A

c.1207A>G

1 paper

NM_000061.3

p.L405*

c.1214T>A

1 paper

NM_000061.3

p.L405L

c.1215G>A

1 paper

NM_000061.3

p.L405delFs

c.1214delA