Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Q2194E

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.Q2194E
c.6580C>G
Surrounding Variants
2 papers
NM_013275.6
p.Q2194*
c.6580C>T
1 paper
NM_013275.6
p.Q2194R
c.6581A>G
1 paper
NM_013275.6
p.P2191S
c.6571C>T
1 paper
NM_013275.6
p.P2187_A2189del3
c.6559_6566del9
1 paper
NM_013275.6
p.T2197fs
c.6589_6590fs
2 papers
NM_013275.6
p.L2199insFs
c.6596_6597insA
1 paper
NM_013275.6
p.P2188S
c.6562C>T
1 paper
NM_013275.6
p.P2187L
c.6560C>T
1 paper
NM_013275.6
p.P2187R
c.6560C>G
1 paper
NM_013275.6
p.P2187S
c.6559C>T
2 papers
NM_013275.6
p.A2184_E2186insFs
c.6552_6558dup7
2 papers
NM_013275.6
p.A2201fs
c.6601_6602fs
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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."