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.R511G

c.1531A>G

Surrounding Variants

1 paper

NM_015525.4

p.A509S

c.1525G>T

1 paper

NM_015525.4

p.R502P

c.1505G>C

1 paper

NM_015525.4

p.R502Q

c.1505G>A

1 paper

NM_015525.4

p.N523D

c.1567A>G

2 papers

NM_015525.4

p.E476A

c.1427A>C

1 paper

NM_015525.4

p.F589fs

c.1765_1766fs

1 paper

NM_015525.4

p.F589insFs

c.1766dupT

1 paper

NM_015525.4

p.G614W

c.1840G>T

1 paper

NM_015525.4

p.H652Y

c.1954C>T

1 paper

NM_015525.4

p.R463fs

c.1387_1388fs

1 paper

NM_015525.4

p.P716A

c.2146C>G

1 paper

NM_015525.4

p.T454T

c.1362G>A