Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K722Q

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.K722Q
c.2164A>C
Surrounding Variants
1 paper
NM_013275.6
p.I721fs
c.2161_2162fs
1 paper
NM_013275.6
p.I721delFs
c.2161delT
1 paper
NM_013275.6
p.K722insFs
c.2166dupA
1 paper
NM_013275.6
p.D723fs
c.2167_2168fs
1 paper
NM_013275.6
p.R720S
c.2160A>T
1 paper
NM_013275.6
p.D723fs
c.2167_2168fs
8 papers
NM_013275.6
p.N725fs
c.2173_2174fs
2 papers
NM_013275.6
p.N725fs
c.2173_2174fs
1 paper
NM_013275.6
p.L718V
c.2152C>G
1 paper
NM_013275.6
p.K726fs
c.2176_2177fs
1 paper
NM_013275.6
p.K726fs
c.2176_2177fs
2 papers
NM_013275.6
p.K716insFs
c.2148dupA
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