Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.A2030G

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.A2030G
c.6089C>G
Surrounding Variants
1 paper
NM_013275.6
p.A2030T
c.6088G>A
1 paper
NM_013275.6
p.V2029F
c.6085G>T
1 paper
NM_013275.6
p.V2029I
c.6085G>A
8 papers
NM_013275.6
p.P2024_P2028delFs
c.6071_6084del14
1 paper
NM_013275.6
p.P2032A
c.6094C>G
2 papers
NM_013275.6
p.P2032L
c.6095C>T
1 paper
NM_013275.6
p.P2028L
c.6083C>T
1 paper
NM_013275.6
p.A2023_L2027Fs
c.6067_6081delinsCCFs
1 paper
NM_013275.6
p.L2034fs
c.6100_6101fs
1 paper
NM_013275.6
p.P2024fs
c.6070_6071fs
1 paper
NM_013275.6
p.D2036N
c.6106G>A
1 paper
NM_013275.6
p.S2021_P2024del0
c.6063_6071del9
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