Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2024R

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.P2024R
c.6071C>G
Surrounding Variants
1 paper
NM_013275.6
p.P2024L
c.6071C>T
1 paper
NM_013275.6
p.P2024fs
c.6070_6071fs
5 papers
NM_013275.6
p.P2024fs
c.6070_6071fs
1 paper
NM_013275.6
p.S2021_P2024del0
c.6063_6071del9
1 paper
NM_013275.6
p.A2023fs
c.6067_6068fs
1 paper
NM_013275.6
p.A2023V
c.6068C>T
1 paper
NM_013275.6
p.A2023S
c.6067G>T
2 papers
NM_013275.6
p.A2023P
c.6067G>C
1 paper
NM_013275.6
p.A2023fs
c.6067_6068fs
1 paper
NM_013275.6
p.P2022L
c.6065C>T
1 paper
NM_013275.6
p.S2021P
c.6061T>C
1 paper
NM_013275.6
p.A2020_S2021delins
c.6060_6061delinsGC
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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."