Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.D669A

ANKRD11

679 papers

RefSeq Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome...

Pfam Domains

Ank_2aa 145–231UCSCAnkyrin repeats (3 copies)
Ank_2aa 228–293UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain containing 11

HGNC Alias Symbols

LZ16; T13; ANCO1; ANCO-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_013275.6
p.D669A
c.2006A>C
Surrounding Variants
1 paper
NM_013275.6
p.K670fs
c.2008_2009fs
2 papers
NM_013275.6
p.Q666*
c.1996C>T
1 paper
NM_013275.6
p.K665R
c.1994A>G
1 paper
NM_013275.6
p.K670_L674delFs
c.2008_2020del13
1 paper
NM_013275.6
p.L674insFs
c.2022dupA
1 paper
NM_013275.6
p.E675Q
c.2023G>C
1 paper
NM_013275.6
p.E675fs
c.2023_2024fs
1 paper
NM_013275.6
p.E675fs
c.2023_2024fs
1 paper
NM_013275.6
p.D663N
c.1987G>A
1 paper
NM_013275.6
p.E662fs
c.1984_1985fs
1 paper
NM_013275.6
p.N676K
c.2028T>G
1 paper
NM_013275.6
p.N676K
c.2028T>A
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