Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Y1788*

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.Y1788*
c.5364C>A
Surrounding Variants
1 paper
NM_013275.6
p.Y1788*
c.5364C>G
1 paper
NM_013275.6
p.S1790L
c.5369C>T
2 papers
NM_013275.6
p.S1792fs
c.5374_5375fs
1 paper
NM_013275.6
p.S1792fs
c.5374_5375fs
1 paper
NM_013275.6
p.S1784fs
c.5350_5351fs
2 papers
NM_013275.6
p.S1784delFs
c.5350_5351delGA
2 papers
NM_013275.6
p.S1792delFs
c.5375_5376delAG
1 paper
NM_013275.6
p.S1784F
c.5351C>T
1 paper
NM_013275.6
p.S1784fs
c.5350_5351fs
1 paper
NM_013275.6
p.D1794N
c.5380G>A
1 paper
NM_013275.6
p.A1778_P1782delFs
c.5334_5344del11
1 paper
NM_013275.6
p.R1796insFs
c.5387_5388insTT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."