Varaico: Literature-Extracted Genetic Variants

ANKRD12

98 papers

RefSeq Summary

This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylas...

Pfam Domains

Ank_2aa 170–248UCSCAnkyrin repeats (3 copies)

Ankaa 250–282UCSCAnkyrin repeat

Gene Aliases

HGNC Name

ankyrin repeat domain 12

HGNC Alias Symbols

KIAA0874; FLJ20053; GAC-1; ANCO-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015208.5

p.D430H

c.1288G>C

Surrounding Variants

1 paper

NM_015208.5

p.E431K

c.1291G>A

1 paper

NM_015208.5

p.Y423S

c.1268A>C

1 paper

NM_015208.5

p.V421D

c.1262T>A

1 paper

NM_015208.5

p.S419C

c.1256C>G

1 paper

NM_015208.5

p.V445I

c.1333G>A

1 paper

NM_015208.5

p.S413I

c.1238G>T

1 paper

NM_015208.5

p.S450T

c.1348T>A

1 paper

NM_015208.5

p.K457I

c.1370A>T

1 paper

NM_015208.5

p.T396fs

c.1186_1187fs

1 paper

NM_015208.5

p.E394insFs

c.1181dupA

1 paper

NM_015208.5

p.H466Q

c.1398C>A

1 paper

NM_015208.5

p.H466Q

c.1398C>G