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.E72K

c.214G>A

Surrounding Variants

1 paper

NM_015208.5

p.N71I

c.212A>T

1 paper

NM_015208.5

p.E54K

c.160G>A

1 paper

NM_015208.5

p.M52I

c.156G>A

1 paper

NM_015208.5

p.M52I

c.156G>C

1 paper

NM_015208.5

p.M52I

c.156G>T

1 paper

NM_015208.5

p.E51K

c.151G>A

1 paper

NM_015208.5

p.E51Q

c.151G>C

1 paper

NM_015208.5

p.Y37F

c.110A>T

1 paper

NM_015208.5

p.K33M

c.98A>T

1 paper

NM_015208.5

p.D32V

c.95A>T

1 paper

NM_015208.5

p.D81V

c.242A>T

1 paper

NM_015208.5

p.R92*

c.274A>T