Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K789delFs

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.K789delFs
c.2367delT
Surrounding Variants
2 papers
NM_013275.6
p.E790*
c.2368G>T
2 papers
NM_013275.6
p.E790fs
c.2368_2369fs
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.E790Fs
c.2368_2369delinsTTCTFs
1 paper
NM_013275.6
p.K789fs
c.2365_2366fs
1 paper
NM_013275.6
p.S788S
c.2364A>T
1 paper
NM_013275.6
p.K791K
c.2373G>A
1 paper
NM_013275.6
p.F795V
c.2383T>G
2 papers
NM_013275.6
p.E784*
c.2350G>T
1 paper
NM_013275.6
p.L782insFs
c.2344_2345dupTT
1 paper
NM_013275.6
p.L782fs
c.2344_2345fs
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