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.K1001insFs

c.3001_3002insGG

Surrounding Variants

1 paper

NM_015208.5

p.K1001delFs

c.3003delA

1 paper

NM_015208.5

p.K996_P997insFs

c.2988_2989insT

1 paper

NM_015208.5

p.K996fs

c.2986_2987fs

1 paper

NM_015208.5

p.D1006G

c.3017A>G

1 paper

NM_015208.5

p.S984L

c.2951C>T

1 paper

NM_015208.5

p.S984A

c.2950T>G

1 paper

NM_015208.5

p.E981delFs

c.2942delA

1 paper

NM_015208.5

p.K967I

c.2900A>T

1 paper

NM_015208.5

p.E968_S969delFs

c.2903_2906del4

1 paper

NM_015208.5

p.K963N

c.2889A>C

1 paper

NM_015208.5

p.K963N

c.2889A>T

1 paper

NM_015208.5

p.A1049S

c.3145G>T