Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P1758insFs

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
3 papers
NM_013275.6
p.P1758insFs
c.5274dupC
Surrounding Variants
2 papers
NM_013275.6
p.S1759fs
c.5275_5276fs
1 paper
NM_013275.6
p.S1759fs
c.5275_5276fs
1 paper
NM_013275.6
p.D1762G
c.5285A>G
1 paper
NM_013275.6
p.D1762A
c.5285A>C
1 paper
NM_013275.6
p.F1764L
c.5290T>C
1 paper
NM_013275.6
p.F1764L
c.5292C>G
1 paper
NM_013275.6
p.F1764L
c.5292C>A
1 paper
NM_013275.6
p.V1766M
c.5296G>A
1 paper
NM_013275.6
p.S1768fs
c.5302_5303fs
1 paper
NM_013275.6
p.P1747fs
c.5239_5240fs
2 papers
NM_013275.6
p.T1746_P1747delFs
c.5238_5239delGC
1 paper
NM_013275.6
p.P1747A
c.5239C>G
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