Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S2267A

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.S2267A
c.6799T>G
Surrounding Variants
2 papers
NM_013275.6
p.A2266V
c.6797C>T
1 paper
NM_013275.6
p.G2262_A2265del4
c.6784_6794del12
2 papers
NM_013275.6
p.A2266T
c.6796G>A
2 papers
NM_013275.6
p.A2265fs
c.6793_6794fs
2 papers
NM_013275.6
p.A2265delFs
c.6793delC
11 papers
NM_013275.6
p.P2264insFs
c.6792dupC
3 papers
NM_013275.6
p.P2264delFs
c.6792delG
11 papers
NM_013275.6
p.A2265fs
c.6793_6794fs
1 paper
NM_013275.6
p.P2264L
c.6791C>T
2 papers
NM_013275.6
p.A2270fs
c.6808_6809fs
1 paper
NM_013275.6
p.P2263fs
c.6787_6788fs
2 papers
NM_013275.6
p.C2269_A2270delFs
c.6807_6808delCA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."