Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.H1613H

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.H1613H
c.4839C>T
Surrounding Variants
1 paper
NM_013275.6
p.R1614W
c.4840C>T
1 paper
NM_013275.6
p.R1614Q
c.4841G>A
1 paper
NM_013275.6
p.S1615fs
c.4843_4844fs
2 papers
NM_013275.6
p.S1615delFs
c.4843delA
1 paper
NM_013275.6
p.G1616R
c.4846G>C
1 paper
NM_013275.6
p.G1616R
c.4846G>A
1 paper
NM_013275.6
p.G1616V
c.4847G>T
1 paper
NM_013275.6
p.A1624A
c.4872G>A
1 paper
NM_013275.6
p.K1625fs
c.4873_4874fs
1 paper
NM_013275.6
p.K1625fs
c.4873_4874fs
2 papers
NM_013275.6
p.K1625delFs
c.4875delC
1 paper
NM_013275.6
p.A1627V
c.4880C>T
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