Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.G2006fs

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
6 papers
NM_013275.6
p.G2006fs
c.6016_6017fs
Surrounding Variants
1 paper
NM_013275.6
p.G2006W
c.6016G>T
6 papers
NM_013275.6
p.P2005insFs
c.6015dupA
1 paper
NM_013275.6
p.G2006fs
c.6016_6017fs
1 paper
NM_013275.6
p.P2005S
c.6013C>T
1 paper
NM_013275.6
p.P2007L
c.6020C>T
1 paper
NM_013275.6
p.P2007delFs
c.6021delG
1 paper
NM_013275.6
p.F2008fs
c.6022_6023fs
2 papers
NM_013275.6
p.S2011fs
c.6031_6032fs
1 paper
NM_013275.6
p.L2000R
c.5999T>G
1 paper
NM_013275.6
p.S2011fs
c.6031_6032fs
1 paper
NM_013275.6
p.L2000F
c.5998C>T
1 paper
NM_013275.6
p.E2012V
c.6035A>T
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