Varaico: Literature-Extracted Genetic Variants

ANKRD26

295 papers

RefSeq Summary

This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseu...

Pfam Domains

Ank_2aa 50–143UCSCAnkyrin repeats (3 copies)

Ank_2aa 139–209UCSCAnkyrin repeats (3 copies)

CCDC144Caa 792–1268UCSCCCDC144C protein coiled-coil region

DUF3496aa 1522–1630UCSCDomain of unknown function (DUF3496)

Gene Aliases

HGNC Name

ankyrin repeat domain containing 26

HGNC Previous Symbol

THC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014915.3

p.S15C

c.44C>G

Surrounding Variants

1 paper

NM_014915.3

p.A17V

c.50C>T

1 paper

NM_014915.3

p.P12P

c.36C>T

1 paper

NM_014915.3

p.E10D

c.30G>T

1 paper

NM_014915.3

p.E10D

c.30G>C

11 papers

NM_014915.3

p.Q20R

c.59A>G

1 paper

NM_014915.3

p.E10Q

c.28G>C

1 paper

NM_014915.3

p.G9G

c.27C>A

1 paper

NM_014915.3

p.G9R

c.25G>C

1 paper

NM_014915.3

p.G9S

c.25G>A

1 paper

NM_014915.3

p.S23I

c.68G>T

1 paper

NM_014915.3

p.K7E

c.19A>G

1 paper

NM_014915.3

p.K2_F5del4

c.4_14del12