Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2271insFs

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.P2271insFs
c.6812_6813insC
Surrounding Variants
1 paper
NM_013275.6
p.P2271fs
c.6811_6812fs
1 paper
NM_013275.6
p.P2271delFs
c.6812_6813delAG
1 paper
NM_013275.6
p.P2271fs
c.6811_6812fs
1 paper
NM_013275.6
p.A2270fs
c.6808_6809fs
2 papers
NM_013275.6
p.C2269_A2270delFs
c.6807_6808delCA
2 papers
NM_013275.6
p.G2273fs
c.6817_6818fs
2 papers
NM_013275.6
p.A2270fs
c.6808_6809fs
1 paper
NM_013275.6
p.G2273fs
c.6817_6818fs
1 paper
NM_013275.6
p.P2274R
c.6821C>G
1 paper
NM_013275.6
p.A2275S
c.6823G>T
3 papers
NM_013275.6
p.G2273_P2274del2
c.6817_6821del6
1 paper
NM_013275.6
p.P2276S
c.6826C>T
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