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.G31A

c.92G>C

Surrounding Variants

1 paper

NM_014915.3

p.G31G

c.93G>A

1 paper

NM_014915.3

p.P30L

c.89C>T

1 paper

NM_014915.3

p.E32D

c.96G>T

1 paper

NM_014915.3

p.E32D

c.96G>C

1 paper

NM_014915.3

p.P30S

c.88C>T

1 paper

NM_014915.3

p.A34T

c.100G>A

1 paper

NM_014915.3

p.A34V

c.101C>T

1 paper

NM_014915.3

p.G27G

c.81G>C

5 papers

NM_014915.3

p.Y35*

c.105C>G

3 papers

NM_014915.3

p.Y35*

c.105C>A

1 paper

NM_014915.3

p.S36P

c.106T>C

2 papers

NM_014915.3

p.S36L

c.107C>T