Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K2070fs

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.K2070fs
c.6208_6209fs
Surrounding Variants
4 papers
NM_013275.6
p.K2070fs
c.6208_6209fs
3 papers
NM_013275.6
p.S2071*
c.6212C>G
3 papers
NM_013275.6
p.S2071*
c.6212C>A
5 papers
NM_013275.6
p.K2070_S2071delFs
c.6210_6211delAC
1 paper
NM_013275.6
p.C2069Y
c.6206G>A
1 paper
NM_013275.6
p.P2073fs
c.6217_6218fs
1 paper
NM_013275.6
p.P2073L
c.6218C>T
1 paper
NM_013275.6
p.P2073P
c.6219G>T
1 paper
NM_013275.6
p.P2073insFs
c.6218dupC
1 paper
NM_013275.6
p.P2073fs
c.6217_6218fs
1 paper
NM_013275.6
p.P2073delFs
c.6218delG
1 paper
NM_013275.6
p.E2074*
c.6220G>T
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