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

2 papers

NM_014915.3

p.G443R

c.1327G>C

Surrounding Variants

2 papers

NM_014915.3

p.G443R

c.1327G>A

1 paper

NM_014915.3

p.D442_G443insG

c.1324_1328ins3

1 paper

NM_014915.3

p.A440D

c.1319C>A

1 paper

NM_014915.3

p.V434_P436delFs

c.1302_1306del5

1 paper

NM_014915.3

p.E451D

c.1353A>T

1 paper

NM_014915.3

p.E451D

c.1353A>C

1 paper

NM_014915.3

p.P430A

c.1288C>G

7 papers

NM_014915.3

p.I425V

c.1273A>G

1 paper

NM_014915.3

p.S424G

c.1270A>G

1 paper

NM_014915.3

p.E423K

c.1267G>A

1 paper

NM_014915.3

p.I416T

c.1247T>C

1 paper

NM_014915.3

p.E414G

c.1241A>G