Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.R2249C

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.R2249C
c.6745C>T
Surrounding Variants
1 paper
NM_013275.6
p.R2249H
c.6746G>A
1 paper
NM_013275.6
p.Q2248R
c.6743A>G
3 papers
NM_013275.6
p.Q2248*
c.6742C>T
1 paper
NM_013275.6
p.E2247fs
c.6739_6740fs
1 paper
NM_013275.6
p.P2250fs
c.6748_6749fs
1 paper
NM_013275.6
p.L2251fs
c.6751_6752fs
2 papers
NM_013275.6
p.P2246delFs
c.6738delT
1 paper
NM_013275.6
p.E2247fs
c.6739_6740fs
1 paper
NM_013275.6
p.L2251delFs
c.6752_6753delCA
1 paper
NM_013275.6
p.G2252fs
c.6754_6755fs
1 paper
NM_013275.6
p.G2252delFs
c.6755_6756delCC
3 papers
NM_013275.6
p.G2254*
c.6760G>T
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