Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E750_K757insFs

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.E750_K757insFs
c.2249_2270dup22
Surrounding Variants
2 papers
NM_013275.6
p.L758fs
c.2272_2273fs
1 paper
NM_013275.6
p.K757K
c.2271A>G
4 papers
NM_013275.6
p.L758insFs
c.2273dupT
1 paper
NM_013275.6
p.L758fs
c.2272_2273fs
3 papers
NM_013275.6
p.L758delFs
c.2273_2274delCA
1 paper
NM_013275.6
p.R759fs
c.2275_2276fs
1 paper
NM_013275.6
p.R759fs
c.2275_2276fs
1 paper
NM_013275.6
p.K754_E755delFs
c.2262_2265del4
1 paper
NM_013275.6
p.L760L
c.2278C>T
1 paper
NM_013275.6
p.E755fs
c.2263_2264fs
2 papers
NM_013275.6
p.K754insFs
c.2262dupA
1 paper
NM_013275.6
p.E755K
c.2263G>A
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