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.L860fs

c.2578_2579fs

Surrounding Variants

1 paper

NM_015208.5

p.D865Y

c.2593G>T

1 paper

NM_015208.5

p.K852_E854del3

c.2554_2561del9

1 paper

NM_015208.5

p.E869fs

c.2605_2606fs

1 paper

NM_015208.5

p.E850K

c.2548G>A

1 paper

NM_015208.5

p.E842*

c.2524G>T

2 papers

NM_015208.5

p.K883R

c.2648A>G

1 paper

NM_015208.5

p.M836I

c.2508G>A

1 paper

NM_015208.5

p.M836I

c.2508G>C

1 paper

NM_015208.5

p.M836I

c.2508G>T

1 paper

NM_015208.5

p.Q827H

c.2481A>C

1 paper

NM_015208.5

p.Q827H

c.2481A>T

1 paper

NM_015208.5

p.R825Q

c.2474G>A