Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.I728fs

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.I728fs
c.2182_2183fs
Surrounding Variants
1 paper
NM_013275.6
p.I728M
c.2184C>G
3 papers
NM_013275.6
p.I728delFs
c.2182_2183delAT
1 paper
NM_013275.6
p.I728delFs
c.2184delG
1 paper
NM_013275.6
p.I728fs
c.2182_2183fs
1 paper
NM_013275.6
p.S729fs
c.2185_2186fs
1 paper
NM_013275.6
p.D727fs
c.2179_2180fs
1 paper
NM_013275.6
p.K726insFs
c.2178dupA
1 paper
NM_013275.6
p.K726delFs
c.2178delT
2 papers
NM_013275.6
p.K726delFs
c.2177_2178delTT
15 papers
NM_013275.6
p.N725_K726delFs
c.2175_2178del4
1 paper
NM_013275.6
p.D727fs
c.2179_2180fs
1 paper
NM_013275.6
p.S729del1
c.2185_2186delGCT
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