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

1–12 of 241 variants

2 papers

NM_015208.5

p.P9L

c.26C>T

2 papers

NM_015208.5

p.E72K

c.214G>A

2 papers

NM_015208.5

p.L476F

c.1428G>C

2 papers

NM_015208.5

p.L476F

c.1428G>T

2 papers

NM_015208.5

p.S606G

c.1816A>G

2 papers

NM_015208.5

p.R751*

c.2251C>T

2 papers

NM_015208.5

p.K883R

c.2648A>G

2 papers

NM_015208.5

p.M1509delFs

c.4525_4526delAT

1 paper

NM_015208.5

p.M1V

c.1A>G

1 paper

NM_015208.5

p.M1T

c.2T>C

1 paper

NM_015208.5

p.M1I

c.3G>A

1 paper

NM_015208.5

p.M1I

c.3G>C