Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A1733T

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.A1733T
c.5197G>A
Surrounding Variants
2 papers
NM_013275.6
p.A1733V
c.5198C>T
1 paper
NM_013275.6
p.D1734fs
c.5200_5201fs
1 paper
NM_013275.6
p.D1734fs
c.5200_5201fs
1 paper
NM_013275.6
p.V1736M
c.5206G>A
1 paper
NM_013275.6
p.V1736fs
c.5206_5207fs
3 papers
NM_013275.6
p.L1735delFs
c.5205delG
1 paper
NM_013275.6
p.V1736fs
c.5206_5207fs
1 paper
NM_013275.6
p.D1738N
c.5212G>A
1 paper
NM_013275.6
p.C1727insFs
c.5181dupC
1 paper
NM_013275.6
p.C1739Y
c.5216G>A
1 paper
NM_013275.6
p.S1726S
c.5178C>G
1 paper
NM_013275.6
p.S1726fs
c.5176_5177fs
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