Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K459N

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.K459N
c.1377G>T
Surrounding Variants
1 paper
NM_013275.6
p.K459N
c.1377G>C
12 papers
NM_013275.6
p.E461fs
c.1381_1382fs
7 papers
NM_013275.6
p.R458*
c.1372C>T
2 papers
NM_013275.6
p.K457fs
c.1369_1370fs
4 papers
NM_013275.6
p.K456_K457delFs
c.1367_1370del4
2 papers
NM_013275.6
p.E461fs
c.1381_1382fs
1 paper
NM_013275.6
p.E461delFs
c.1381_1382delTC
3 papers
NM_013275.6
p.T462fs
c.1384_1385fs
3 papers
NM_013275.6
p.K457fs
c.1369_1370fs
17 papers
NM_013275.6
p.E461_T462delFs
c.1381_1384del4
1 paper
NM_013275.6
p.K456fs
c.1366_1367fs
3 papers
NM_013275.6
p.K456insFs
c.1366_1367dupAA
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