Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.L760L

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.L760L
c.2278C>T
Surrounding Variants
1 paper
NM_013275.6
p.R759fs
c.2275_2276fs
2 papers
NM_013275.6
p.Y761fs
c.2281_2282fs
3 papers
NM_013275.6
p.L758delFs
c.2273_2274delCA
1 paper
NM_013275.6
p.R759fs
c.2275_2276fs
4 papers
NM_013275.6
p.L758insFs
c.2273dupT
1 paper
NM_013275.6
p.L758fs
c.2272_2273fs
2 papers
NM_013275.6
p.L760_Y761delFs
c.2280_2281delAC
2 papers
NM_013275.6
p.Y761*
c.2283C>G
2 papers
NM_013275.6
p.Y761fs
c.2281_2282fs
2 papers
NM_013275.6
p.Y761*
c.2283C>A
2 papers
NM_013275.6
p.L758fs
c.2272_2273fs
1 paper
NM_013275.6
p.E750_K757insFs
c.2249_2270dup22
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