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

9 papers

NM_014915.3

p.D158G

c.473A>G

Surrounding Variants

1 paper

NM_014915.3

p.E157G

c.470A>G

1 paper

NM_014915.3

p.E157K

c.469G>A

1 paper

NM_014915.3

p.V154L

c.460G>C

1 paper

NM_014915.3

p.T163P

c.487A>C

1 paper

NM_014915.3

p.A153T

c.457G>A

1 paper

NM_014915.3

p.K164E

c.490A>G

1 paper

NM_014915.3

p.K164insFs

c.491dupA

1 paper

NM_014915.3

p.H151Y

c.451C>T

2 papers

NM_014915.3

p.L167F

c.501G>C

1 paper

NM_014915.3

p.L166delFs

c.498delA

1 paper

NM_014915.3

p.Y168C

c.503A>G

1 paper

NM_014915.3

p.G146delins

c.437_438delinsAA