Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K463insFs

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
2 papers
NM_013275.6
p.K463insFs
c.1389dupA
Surrounding Variants
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
1 paper
NM_013275.6
p.K463fs
c.1387_1388fs
8 papers
NM_013275.6
p.T462_K463delFs
c.1385_1388del4
1 paper
NM_013275.6
p.G464fs
c.1390_1391fs
1 paper
NM_013275.6
p.K463E
c.1387A>G
1 paper
NM_013275.6
p.K463fs
c.1387_1388fs
1 paper
NM_013275.6
p.T462fs
c.1384_1385fs
17 papers
NM_013275.6
p.E461_T462delFs
c.1381_1384del4
3 papers
NM_013275.6
p.T462fs
c.1384_1385fs
2 papers
NM_013275.6
p.E461fs
c.1381_1382fs
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