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

2 papers

NM_015208.5

p.M1509delFs

c.4525_4526delAT

Surrounding Variants

1 paper

NM_015208.5

p.Y1513H

c.4537T>C

1 paper

NM_015208.5

p.A1534S

c.4600G>T

1 paper

NM_015208.5

p.S1477C

c.4430C>G

1 paper

NM_015208.5

p.N1539D

c.4615A>G

1 paper

NM_015208.5

p.N1476T

c.4427A>C

1 paper

NM_015208.5

p.N1476H

c.4426A>C

1 paper

NM_015208.5

p.V1550F

c.4648G>T

1 paper

NM_015208.5

p.P1562A

c.4684C>G

1 paper

NM_015208.5

p.D1433G

c.4298A>G

1 paper

NM_015208.5

p.D1400N

c.4198G>A

1 paper

NM_015208.5

p.T1624P

c.4870A>C

1 paper

NM_015208.5

p.V1641F

c.4921G>T