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

6 papers

NM_014915.3

p.D143N

c.427G>A

Surrounding Variants

1 paper

NM_014915.3

p.H145L

c.434A>T

1 paper

NM_014915.3

p.P139_N140insFs

c.415_418dup4

1 paper

NM_014915.3

p.A129_N140delFs

c.385_418del34

1 paper

NM_014915.3

p.N140Y

c.418A>T

1 paper

NM_014915.3

p.G146delins

c.437_438delinsAA

1 paper

NM_014915.3

p.D138Y

c.412G>T

1 paper

NM_014915.3

p.H151Y

c.451C>T

1 paper

NM_014915.3

p.E134D

c.402A>T

1 paper

NM_014915.3

p.E134D

c.402A>C

1 paper

NM_014915.3

p.A153T

c.457G>A

1 paper

NM_014915.3

p.V154L

c.460G>C

1 paper

NM_014915.3

p.I131V

c.391A>G