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.A1370T

c.4108G>A

Surrounding Variants

1 paper

NM_015208.5

p.R1357K

c.4070G>A

1 paper

NM_015208.5

p.D1400N

c.4198G>A

1 paper

NM_015208.5

p.D1433G

c.4298A>G

1 paper

NM_015208.5

p.E1306Q

c.3916G>C

1 paper

NM_015208.5

p.R1302R

c.3906A>G

1 paper

NM_015208.5

p.V1294delFs

c.3882delT

1 paper

NM_015208.5

p.P1275S

c.3823C>T

1 paper

NM_015208.5

p.R1272W

c.3814C>T

1 paper

NM_015208.5

p.E1271delFs

c.3813delG

1 paper

NM_015208.5

p.S1265N

c.3794G>A

1 paper

NM_015208.5

p.N1476H

c.4426A>C

1 paper

NM_015208.5

p.N1476T

c.4427A>C