Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E2240*

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.E2240*
c.6718G>T
Surrounding Variants
2 papers
NM_013275.6
p.S2238G
c.6712A>G
1 paper
NM_013275.6
p.A2242V
c.6725C>T
1 paper
NM_013275.6
p.V2244I
c.6730G>A
1 paper
NM_013275.6
p.P2235L
c.6704C>T
1 paper
NM_013275.6
p.D2234delFs
c.6701delT
1 paper
NM_013275.6
p.D2234fs
c.6700_6701fs
1 paper
NM_013275.6
p.G2233E
c.6698G>A
1 paper
NM_013275.6
p.G2233R
c.6697G>A
2 papers
NM_013275.6
p.P2246delFs
c.6738delT
1 paper
NM_013275.6
p.E2247fs
c.6739_6740fs
1 paper
NM_013275.6
p.E2247fs
c.6739_6740fs
3 papers
NM_013275.6
p.Q2248*
c.6742C>T
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