Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.L782fs

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.L782fs
c.2344_2345fs
Surrounding Variants
1 paper
NM_013275.6
p.L782insFs
c.2344_2345dupTT
1 paper
NM_013275.6
p.L782fs
c.2344_2345fs
1 paper
NM_013275.6
p.D781N
c.2341G>A
1 paper
NM_013275.6
p.K779_N780del1
c.2337_2339delTTC
2 papers
NM_013275.6
p.E784*
c.2350G>T
4 papers
NM_013275.6
p.E777_K778delFs
c.2329_2332del4
1 paper
NM_013275.6
p.E777fs
c.2329_2330fs
3 papers
NM_013275.6
p.E777*
c.2329G>T
4 papers
NM_013275.6
p.E777fs
c.2329_2330fs
2 papers
NM_013275.6
p.L776*
c.2327T>G
1 paper
NM_013275.6
p.L776S
c.2327T>C
2 papers
NM_013275.6
p.L776*
c.2327T>A
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