Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K1625fs

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.K1625fs
c.4873_4874fs
Surrounding Variants
2 papers
NM_013275.6
p.K1625delFs
c.4875delC
1 paper
NM_013275.6
p.K1625fs
c.4873_4874fs
1 paper
NM_013275.6
p.A1624A
c.4872G>A
1 paper
NM_013275.6
p.A1627V
c.4880C>T
1 paper
NM_013275.6
p.G1630R
c.4888G>C
1 paper
NM_013275.6
p.G1630R
c.4888G>A
1 paper
NM_013275.6
p.K1623_G1630del8
c.4867_4889del24
1 paper
NM_013275.6
p.R1631P
c.4892G>C
1 paper
NM_013275.6
p.R1631Q
c.4892G>A
1 paper
NM_013275.6
p.G1616V
c.4847G>T
2 papers
NM_013275.6
p.L1635fs
c.4903_4904fs
2 papers
NM_013275.6
p.L1635insFs
c.4903_4904insGC
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