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.K3del1

c.7_8delCTT

Surrounding Variants

1 paper

NM_014915.3

p.K3insFs

c.7dupA

1 paper

NM_014915.3

p.M1_K2delFs

c.2_5del4

1 paper

NM_014915.3

p.K2_F5del4

c.4_14del12

6 papers

NM_014915.3

p.M1I

c.3G>T

1 paper

NM_014915.3

p.M1_K2insFs

c.3_4insA

6 papers

NM_014915.3

p.M1I

c.3G>C

12 papers

NM_014915.3

p.M1I

c.3G>A

1 paper

NM_014915.3

p.K7E

c.19A>G

2 papers

NM_014915.3

p.M1T

c.2T>C

1 paper

NM_014915.3

p.M1L

c.1A>T

1 paper

NM_014915.3

p.M1V

c.1A>G

1 paper

NM_014915.3

p.M1L

c.1A>C