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.E670D

c.2010A>T

Surrounding Variants

1 paper

NM_015208.5

p.K664*

c.1990A>T

1 paper

NM_015208.5

p.E684Q

c.2050G>C

1 paper

NM_015208.5

p.R693*

c.2077A>T

1 paper

NM_015208.5

p.G647C

c.1939G>T

1 paper

NM_015208.5

p.M643V

c.1927A>G

1 paper

NM_015208.5

p.K641*

c.1921A>T

1 paper

NM_015208.5

p.D704delFs

c.2111delA

1 paper

NM_015208.5

p.S636*

c.1907C>A

1 paper

NM_015208.5

p.S636*

c.1907C>G

1 paper

NM_015208.5

p.E707Q

c.2119G>C

1 paper

NM_015208.5

p.H629Y

c.1885C>T

1 paper

NM_015208.5

p.E721Q

c.2161G>C