Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11

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
1–12 of 2494 variants
66 papers
NM_013275.6
p.K635_H636delFs
c.1903_1907del5
51 papers
NM_013275.6
p.L1903_L1907del5
c.5707_5720del15
35 papers
NM_013275.6
p.K635fs
c.1903_1904fs
28 papers
NM_013275.6
p.E800_K801delFs
c.2398_2401del4
23 papers
NM_013275.6
p.K803_K804delFs
c.2408_2412del5
19 papers
NM_013275.6
p.K1257delFs
c.3770_3771delTT
18 papers
NM_013275.6
p.Q2398_N2401del4
c.7192_7202del12
17 papers
NM_013275.6
p.E461_T462delFs
c.1381_1384del4
16 papers
NM_013275.6
p.E800fs
c.2398_2399fs
16 papers
NM_013275.6
p.R2512Q
c.7535G>A
15 papers
NM_013275.6
p.N725_K726delFs
c.2175_2178del4
15 papers
NM_013275.6
p.K803fs
c.2407_2408fs
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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."