Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.D2122fs

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.D2122fs
c.6364_6365fs
Surrounding Variants
2 papers
NM_013275.6
p.D2122_A2123delFs
c.6364_6367del4
1 paper
NM_013275.6
p.P2117_A2121delFs
c.6349_6362del14
1 paper
NM_013275.6
p.A2121V
c.6362C>T
1 paper
NM_013275.6
p.A2121T
c.6361G>A
2 papers
NM_013275.6
p.P2119_W2120delFs
c.6357_6360del4
2 papers
NM_013275.6
p.W2120*
c.6360G>A
1 paper
NM_013275.6
p.W2120*
c.6359G>A
1 paper
NM_013275.6
p.W2120fs
c.6358_6359fs
1 paper
NM_013275.6
p.A2125A
c.6375C>T
1 paper
NM_013275.6
p.G2126D
c.6377G>A
1 paper
NM_013275.6
p.P2117fs
c.6349_6350fs
1 paper
NM_013275.6
p.P2117fs
c.6349_6350fs
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