Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V343I

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.V343I
c.1027G>A
Surrounding Variants
1 paper
NM_013275.6
p.T340fs
c.1018_1019fs
1 paper
NM_013275.6
p.T340T
c.1020G>A
2 papers
NM_013275.6
p.T340insFs
c.1018dupA
2 papers
NM_013275.6
p.T340fs
c.1018_1019fs
1 paper
NM_013275.6
p.A339G
c.1016C>G
1 paper
NM_013275.6
p.Y347*
c.1041T>G
1 paper
NM_013275.6
p.Y347*
c.1041T>A
1 paper
NM_013275.6
p.E346_Y347del1
c.1038_1040delTAC
2 papers
NM_013275.6
p.Q337*
c.1009C>T
1 paper
NM_013275.6
p.E335*
c.1003G>T
1 paper
NM_013275.6
p.D352N
c.1054G>A
1 paper
NM_013275.6
p.N333fs
c.997_998fs
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