Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.C1712G

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.C1712G
c.5134T>G
Surrounding Variants
1 paper
NM_013275.6
p.S1708_S1711del4
c.5122_5132del12
1 paper
NM_013275.6
p.L1710insFs
c.5130dupA
1 paper
NM_013275.6
p.S1711fs
c.5131_5132fs
7 papers
NM_013275.6
p.Y1715*
c.5145C>G
2 papers
NM_013275.6
p.Y1715insFs
c.5144dupA
7 papers
NM_013275.6
p.Y1715*
c.5145C>A
3 papers
NM_013275.6
p.S1708*
c.5123C>A
3 papers
NM_013275.6
p.E1716*
c.5146G>T
1 paper
NM_013275.6
p.T1707fs
c.5119_5120fs
1 paper
NM_013275.6
p.T1707M
c.5120C>T
1 paper
NM_013275.6
p.T1707R
c.5120C>G
1 paper
NM_013275.6
p.T1707fs
c.5119_5120fs
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