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.E298delFs

c.893_894delCT

Surrounding Variants

1 paper

NM_000061.3

p.E298_G299Splc

c.894+1G>T

1 paper

NM_000061.3

p.E298_G299Splc

c.894+1G>C

1 paper

NM_000061.3

p.E298_G299Splc

c.894+1G>A

2 papers

NM_000061.3

p.E298fs

c.892_893fs

2 papers

NM_000061.3

p.E298A

c.893A>C

1 paper

NM_000061.3

p.E298_G299ins3

c.892_896ins9

1 paper

NM_000061.3

p.E298K

c.892G>A

1 paper

NM_000061.3

p.E298fs

c.892_893fs

6 papers

NM_000061.3

p.Q297*

c.889C>T

1 paper

NM_000061.3

p.Q297E

c.889C>G

1 paper

NM_000061.3

p.K296K

c.888G>A

1 paper

NM_000061.3

p.K296delFs

c.887delT