Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A2013T

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.A2013T
c.6037G>A
Surrounding Variants
1 paper
NM_013275.6
p.A2013V
c.6038C>T
1 paper
NM_013275.6
p.E2012V
c.6035A>T
1 paper
NM_013275.6
p.S2011fs
c.6031_6032fs
2 papers
NM_013275.6
p.S2011_P2014delFs
c.6031_6041del11
1 paper
NM_013275.6
p.Y2015H
c.6043T>C
2 papers
NM_013275.6
p.S2011fs
c.6031_6032fs
4 papers
NM_013275.6
p.Y2015S
c.6044A>C
1 paper
NM_013275.6
p.Y2015*
c.6045C>G
1 paper
NM_013275.6
p.Y2015*
c.6045C>A
1 paper
NM_013275.6
p.P2016S
c.6046C>T
3 papers
NM_013275.6
p.A2017T
c.6049G>A
1 paper
NM_013275.6
p.P2007delFs
c.6021delG
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