Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2361insFs

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
2 papers
NM_013275.6
p.P2361insFs
c.7083dupC
Surrounding Variants
3 papers
NM_013275.6
p.T2362fs
c.7084_7085fs
2 papers
NM_013275.6
p.P2361delFs
c.7083delG
1 paper
NM_013275.6
p.T2362fs
c.7084_7085fs
1 paper
NM_013275.6
p.P2363A
c.7087C>G
1 paper
NM_013275.6
p.A2364T
c.7090G>A
1 paper
NM_013275.6
p.P2365P
c.7095G>A
1 paper
NM_013275.6
p.K2357R
c.7070A>G
1 paper
NM_013275.6
p.R2368fs
c.7102_7103fs
1 paper
NM_013275.6
p.R2368K
c.7103G>A
1 paper
NM_013275.6
p.S2355fs
c.7063_7064fs
1 paper
NM_013275.6
p.R2368fs
c.7102_7103fs
1 paper
NM_013275.6
p.P2354insFs
c.7062dupC
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