Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.R468R

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.R468R
c.1404C>T
Surrounding Variants
1 paper
NM_013275.6
p.R468fs
c.1402_1403fs
1 paper
NM_013275.6
p.R468H
c.1403G>A
1 paper
NM_013275.6
p.R468C
c.1402C>T
1 paper
NM_013275.6
p.V467delFs
c.1401delA
1 paper
NM_013275.6
p.R468fs
c.1402_1403fs
1 paper
NM_013275.6
p.K471_R472delFs
c.1413_1414delGC
1 paper
NM_013275.6
p.G464fs
c.1390_1391fs
1 paper
NM_013275.6
p.S473R
c.1417A>C
2 papers
NM_013275.6
p.K463insFs
c.1389dupA
1 paper
NM_013275.6
p.K463delFs
c.1389delT
2 papers
NM_013275.6
p.K463delFs
c.1388_1389delTT
3 papers
NM_013275.6
p.G464fs
c.1390_1391fs
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