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.K237M

c.710A>T

Surrounding Variants

1 paper

NM_000061.3

p.K237N

c.711G>T

2 papers

NM_000061.3

p.R236Q

c.707G>A

3 papers

NM_000061.3

p.R236W

c.706C>T

1 paper

NM_000061.3

p.L235delFs

c.704_705delCA

1 paper

NM_000061.3

p.D239H

c.715G>C

1 paper

NM_000061.3

p.D239N

c.715G>A

1 paper

NM_000061.3

p.D239G

c.716A>G

2 papers

NM_000061.3

p.E240*

c.718G>T

1 paper

NM_000061.3

p.E240fs

c.718_719fs

1 paper

NM_000061.3

p.E240delFs

c.718delC

6 papers

NM_000061.3

p.Q234*

c.700C>T

5 papers

NM_000061.3

p.E240D

c.720A>T