Varaico: Literature-Extracted Genetic Variants

IBTK

64 papers

RefSeq Summary

Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activ...

Pfam Domains

Ank_2aa 22–116UCSCAnkyrin repeats (3 copies)

RCC1aa 143–192UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 195–244UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 247–299UCSCRegulator of chromosome condensation (RCC1) repeat

BTBaa 554–650UCSCBTB/POZ domain

BTBaa 758–871UCSCBTB/POZ domain

Gene Aliases

HGNC Name

inhibitor of Bruton tyrosine kinase

HGNC Previous Symbol

BTKI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015525.4

p.S189F

c.566C>T

Surrounding Variants

1 paper

NM_015525.4

p.T200I

c.599C>T

1 paper

NM_015525.4

p.P205S

c.613C>T

3 papers

NM_015525.4

p.V242I

c.724G>A

1 paper

NM_015525.4

p.V243L

c.727G>T

1 paper

NM_015525.4

p.V243L

c.727G>C

1 paper

NM_015525.4

p.G262G

c.786A>T

1 paper

NM_015525.4

p.H295R

c.884A>G

1 paper

NM_015525.4

p.V297G

c.890T>G

1 paper

NM_015525.4

p.E302G

c.905A>G

1 paper

NM_015525.4

p.N321S

c.962A>G

1 paper

NM_015525.4

p.G322E

c.965G>A

1 paper

NM_015525.4

p.R330C

c.988C>T