Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.G2262V

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.G2262V
c.6785G>T
Surrounding Variants
2 papers
NM_013275.6
p.G2262_P2263insFs
c.6786_6787insA
2 papers
NM_013275.6
p.P2263S
c.6787C>T
1 paper
NM_013275.6
p.P2263fs
c.6787_6788fs
1 paper
NM_013275.6
p.E2261K
c.6781G>A
1 paper
NM_013275.6
p.P2263fs
c.6787_6788fs
1 paper
NM_013275.6
p.P2264L
c.6791C>T
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
2 papers
NM_013275.6
p.A2265delFs
c.6793delC
1 paper
NM_013275.6
p.E2259K
c.6775G>A
2 papers
NM_013275.6
p.A2265fs
c.6793_6794fs
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