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

3 papers

NM_000061.3

p.Y241insFs

c.721_722ins7

Surrounding Variants

1 paper

NM_000061.3

p.Y241N

c.721T>A

5 papers

NM_000061.3

p.E240D

c.720A>T

5 papers

NM_000061.3

p.E240D

c.720A>C

1 paper

NM_000061.3

p.E240fs

c.718_719fs

4 papers

NM_000061.3

p.F242insFs

c.726dupT

1 paper

NM_000061.3

p.E240delFs

c.718delC

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.Y241_I243delFs

c.722_728del7

1 paper

NM_000061.3

p.D239G

c.716A>G

1 paper

NM_000061.3

p.L244*

c.731T>A

1 paper

NM_000061.3

p.D239H

c.715G>C