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

10 papers

NM_014915.3

p.V42G

c.125T>G

Surrounding Variants

1 paper

NM_014915.3

p.V42A

c.125T>C

1 paper

NM_014915.3

p.R43*

c.127C>T

1 paper

NM_014915.3

p.R43G

c.127C>G

1 paper

NM_014915.3

p.R43R

c.127C>A

15 papers

NM_014915.3

p.R43L

c.128G>T

15 papers

NM_014915.3

p.R43P

c.128G>C

25 papers

NM_014915.3

p.R43Q

c.128G>A

1 paper

NM_014915.3

p.Y40F

c.119A>T

1 paper

NM_014915.3

p.G33_G39delFs

c.97_115del19

1 paper

NM_014915.3

p.G39V

c.116G>T

2 papers

NM_014915.3

p.R45P

c.134G>C

21 papers

NM_014915.3

p.R45Q

c.134G>A