Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Y391*

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
4 papers
NM_013275.6
p.Y391*
c.1173C>A
Surrounding Variants
4 papers
NM_013275.6
p.Y391*
c.1173C>G
2 papers
NM_013275.6
p.N394fs
c.1180_1181fs
1 paper
NM_013275.6
p.N394fs
c.1180_1181fs
2 papers
NM_013275.6
p.N394delFs
c.1181delT
1 paper
NM_013275.6
p.T396M
c.1187C>T
1 paper
NM_013275.6
p.I397delFs
c.1189delT
1 paper
NM_013275.6
p.P384H
c.1151C>A
1 paper
NM_013275.6
p.I383fs
c.1147_1148fs
1 paper
NM_013275.6
p.S382insFs
c.1146dupT
1 paper
NM_013275.6
p.I383fs
c.1147_1148fs
1 paper
NM_013275.6
p.K400N
c.1200G>T
1 paper
NM_013275.6
p.K400N
c.1200G>C
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