Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V420M

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.V420M
c.1258G>A
Surrounding Variants
1 paper
NM_013275.6
p.V418V
c.1254C>T
1 paper
NM_013275.6
p.E414_D415delFs
c.1242_1245del4
1 paper
NM_013275.6
p.A416S
c.1246G>T
1 paper
NM_013275.6
p.R427*
c.1279A>T
1 paper
NM_013275.6
p.R427fs
c.1279_1280fs
1 paper
NM_013275.6
p.R427fs
c.1279_1280fs
1 paper
NM_013275.6
p.R427delFs
c.1280_1281delTC
1 paper
NM_013275.6
p.L428L
c.1284C>T
1 paper
NM_013275.6
p.S411L
c.1232C>T
5 papers
NM_013275.6
p.S411*
c.1232C>A
3 papers
NM_013275.6
p.S429fs
c.1285_1286fs
1 paper
NM_013275.6
p.S429L
c.1286C>T
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