Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Y2469insFs

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.Y2469insFs
c.7407dupC
Surrounding Variants
6 papers
NM_013275.6
p.Y2469*
c.7407C>G
6 papers
NM_013275.6
p.Y2469*
c.7407C>A
1 paper
NM_013275.6
p.T2471N
c.7412C>A
5 papers
NM_013275.6
p.Y2472*
c.7416C>G
4 papers
NM_013275.6
p.Y2472*
c.7416C>A
1 paper
NM_013275.6
p.T2473M
c.7418C>T
1 paper
NM_013275.6
p.G2474del1
c.7420_7421delGCC
3 papers
NM_013275.6
p.T2471_G2474del0
c.7411_7422del12
1 paper
NM_013275.6
p.S2475C
c.7424C>G
1 paper
NM_013275.6
p.P2463R
c.7388C>G
1 paper
NM_013275.6
p.P2463H
c.7388C>A
1 paper
NM_013275.6
p.E2468_Y2476del0
c.7404_7427del24
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