Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2081insFs

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.P2081insFs
c.6243dupC
Surrounding Variants
2 papers
NM_013275.6
p.E2082fs
c.6244_6245fs
1 paper
NM_013275.6
p.P2083S
c.6247C>T
1 paper
NM_013275.6
p.A2080P
c.6238G>C
2 papers
NM_013275.6
p.P2083delFs
c.6249delG
1 paper
NM_013275.6
p.A2084fs
c.6250_6251fs
1 paper
NM_013275.6
p.A2084fs
c.6250_6251fs
1 paper
NM_013275.6
p.C2085S
c.6253T>A
1 paper
NM_013275.6
p.C2085F
c.6254G>T
1 paper
NM_013275.6
p.C2085S
c.6254G>C
1 paper
NM_013275.6
p.D2078H
c.6232G>C
1 paper
NM_013275.6
p.A2088T
c.6262G>A
1 paper
NM_013275.6
p.P2076S
c.6226C>T
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