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.K1096T

c.3287A>C

Surrounding Variants

1 paper

NM_015208.5

p.K1096R

c.3287A>G

1 paper

NM_015208.5

p.L1084_S1085insFs

c.3252_3253insAT

1 paper

NM_015208.5

p.N1112K

c.3336C>A

1 paper

NM_015208.5

p.N1112K

c.3336C>G

1 paper

NM_015208.5

p.R1113Q

c.3338G>A

1 paper

NM_015208.5

p.T1126fs

c.3376_3377fs

1 paper

NM_015208.5

p.T1129K

c.3386C>A

1 paper

NM_015208.5

p.S1060delFs

c.3180delA

1 paper

NM_015208.5

p.K1055R

c.3164A>G

1 paper

NM_015208.5

p.P1054L

c.3161C>T

1 paper

NM_015208.5

p.A1049S

c.3145G>T

1 paper

NM_015208.5

p.Q1155Q

c.3465A>G