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

1–12 of 1699 variants

236 papers

NM_000061.3

p.C481S

c.1441T>A

236 papers

NM_000061.3

p.C481S

c.1442G>C

131 papers

NM_000061.3

p.R28C

c.82C>T

81 papers

NM_000061.3

p.E41K

c.121G>A

73 papers

NM_000061.3

p.L528W

c.1583T>G

66 papers

NM_000061.3

p.T474I

c.1421C>T

62 papers

NM_000061.3

p.R28H

c.83G>A

56 papers

NM_000061.3

p.C481R

c.1441T>C

49 papers

NM_000061.3

p.C481Y

c.1442G>A

48 papers

NM_000061.3

p.C481F

c.1442G>T

47 papers

NM_000061.3

p.K430R

c.1289A>G

42 papers

NM_000061.3

p.T316A

c.946A>G