Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E707fs

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.E707fs
c.2119_2120fs
Surrounding Variants
1 paper
NM_013275.6
p.E707D
c.2121A>T
2 papers
NM_013275.6
p.E707delFs
c.2119delC
2 papers
NM_013275.6
p.W710fs
c.2128_2129fs
2 papers
NM_013275.6
p.W710*
c.2129G>A
1 paper
NM_013275.6
p.W710fs
c.2128_2129fs
2 papers
NM_013275.6
p.W710*
c.2130G>A
5 papers
NM_013275.6
p.W710delFs
c.2130delC
1 paper
NM_013275.6
p.S701_K702Fs
c.2102_2104delinsCCFs
1 paper
NM_013275.6
p.S701fs
c.2101_2102fs
1 paper
NM_013275.6
p.L700delFs
c.2099_2100delAA
1 paper
NM_013275.6
p.E715*
c.2143G>T
1 paper
NM_013275.6
p.L700fs
c.2098_2099fs
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