Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.F795V

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
1 paper
NM_013275.6
p.F795V
c.2383T>G
Surrounding Variants
1 paper
NM_013275.6
p.K791K
c.2373G>A
2 papers
NM_013275.6
p.K799*
c.2395A>T
2 papers
NM_013275.6
p.E790Fs
c.2368_2369delinsTTCTFs
2 papers
NM_013275.6
p.E790*
c.2368G>T
3 papers
NM_013275.6
p.K799delFs
c.2397delT
1 paper
NM_013275.6
p.K789delFs
c.2367delT
2 papers
NM_013275.6
p.E790fs
c.2368_2369fs
16 papers
NM_013275.6
p.E800fs
c.2398_2399fs
1 paper
NM_013275.6
p.K789K
c.2367A>G
1 paper
NM_013275.6
p.K789fs
c.2365_2366fs
2 papers
NM_013275.6
p.E800fs
c.2398_2399fs
1 paper
NM_013275.6
p.K789fs
c.2365_2366fs
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