Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A2258fs

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.A2258fs
c.6772_6773fs
Surrounding Variants
1 paper
NM_013275.6
p.E2259K
c.6775G>A
1 paper
NM_013275.6
p.A2258insFs
c.6772dupG
1 paper
NM_013275.6
p.A2258fs
c.6772_6773fs
1 paper
NM_013275.6
p.E2261K
c.6781G>A
4 papers
NM_013275.6
p.Q2256*
c.6766C>T
1 paper
NM_013275.6
p.D2255fs
c.6763_6764fs
1 paper
NM_013275.6
p.D2255delFs
c.6763_6764delTC
1 paper
NM_013275.6
p.G2262V
c.6785G>T
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
3 papers
NM_013275.6
p.G2254*
c.6760G>T
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