Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Y2056*

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.Y2056*
c.6168C>A
Surrounding Variants
1 paper
NM_013275.6
p.Y2056*
c.6168C>G
1 paper
NM_013275.6
p.Y2056fs
c.6166_6167fs
1 paper
NM_013275.6
p.P2055delFs
c.6165delG
1 paper
NM_013275.6
p.A2054_P2055del2
c.6160_6164del6
1 paper
NM_013275.6
p.Y2056fs
c.6166_6167fs
1 paper
NM_013275.6
p.Y2056_A2057delFs
c.6166_6170del5
2 papers
NM_013275.6
p.A2053_A2054delFs
c.6159_6162del4
6 papers
NM_013275.6
p.P2059H
c.6176C>A
1 paper
NM_013275.6
p.A2053V
c.6158C>T
1 paper
NM_013275.6
p.A2053T
c.6157G>A
3 papers
NM_013275.6
p.S2060F
c.6179C>T
1 paper
NM_013275.6
p.E2052fs
c.6154_6155fs
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