Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E2295fs

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.E2295fs
c.6883_6884fs
Surrounding Variants
2 papers
NM_013275.6
p.T2294_E2295delFs
c.6882_6883delCA
1 paper
NM_013275.6
p.E2295fs
c.6883_6884fs
1 paper
NM_013275.6
p.D2293Y
c.6877G>T
1 paper
NM_013275.6
p.D2292N
c.6874G>A
2 papers
NM_013275.6
p.R2298L
c.6893G>T
1 paper
NM_013275.6
p.R2298H
c.6893G>A
4 papers
NM_013275.6
p.E2291*
c.6871G>T
2 papers
NM_013275.6
p.A2299V
c.6896C>T
2 papers
NM_013275.6
p.A2300S
c.6898G>T
4 papers
NM_013275.6
p.P2290S
c.6868C>T
2 papers
NM_013275.6
p.A2288_G2289del2
c.6862_6866del6
1 paper
NM_013275.6
p.A2300V
c.6899C>T
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