Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E675fs

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.E675fs
c.2023_2024fs
Surrounding Variants
1 paper
NM_013275.6
p.L674insFs
c.2022dupA
1 paper
NM_013275.6
p.E675Q
c.2023G>C
1 paper
NM_013275.6
p.E675fs
c.2023_2024fs
1 paper
NM_013275.6
p.N676K
c.2028T>G
1 paper
NM_013275.6
p.N676K
c.2028T>A
1 paper
NM_013275.6
p.K670_L674delFs
c.2008_2020del13
1 paper
NM_013275.6
p.D677V
c.2030A>T
4 papers
NM_013275.6
p.T680S
c.2038A>T
4 papers
NM_013275.6
p.T680S
c.2039C>G
1 paper
NM_013275.6
p.K670fs
c.2008_2009fs
1 paper
NM_013275.6
p.E681D
c.2043A>T
3 papers
NM_013275.6
p.D669A
c.2006A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."