Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.W710delFs

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
5 papers
NM_013275.6
p.W710delFs
c.2130delC
Surrounding Variants
1 paper
NM_013275.6
p.W710fs
c.2128_2129fs
2 papers
NM_013275.6
p.W710*
c.2130G>A
2 papers
NM_013275.6
p.W710*
c.2129G>A
2 papers
NM_013275.6
p.W710fs
c.2128_2129fs
1 paper
NM_013275.6
p.E707D
c.2121A>T
1 paper
NM_013275.6
p.E707fs
c.2119_2120fs
2 papers
NM_013275.6
p.E707delFs
c.2119delC
1 paper
NM_013275.6
p.E715*
c.2143G>T
1 paper
NM_013275.6
p.K716Q
c.2146A>C
2 papers
NM_013275.6
p.K716insFs
c.2148dupA
2 papers
NM_013275.6
p.S717fs
c.2149_2150fs
1 paper
NM_013275.6
p.L718V
c.2152C>G
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."