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.A145A

c.435A>T

Surrounding Variants

1 paper

NM_015208.5

p.D147V

c.440A>T

1 paper

NM_015208.5

p.L139F

c.415C>T

1 paper

NM_015208.5

p.L140del1

c.418_419delCTT

1 paper

NM_015208.5

p.A138S

c.412G>T

1 paper

NM_015208.5

p.K135*

c.403A>T

1 paper

NM_015208.5

p.T121fs

c.361_362fs

1 paper

NM_015208.5

p.K118K

c.354G>A

1 paper

NM_015208.5

p.G116R

c.346G>C

1 paper

NM_015208.5

p.K109*

c.325A>T

1 paper

NM_015208.5

p.E107G

c.320A>G

1 paper

NM_015208.5

p.P106T

c.316C>A

1 paper

NM_015208.5

p.G105D

c.314G>A