Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD46

ANKRD46

17 papers

RefSeq Summary

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple t...

Pfam Domains

Ank_2aa 16–103UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 46

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
2 papers
NM_001270377.2
p.R41C
c.121C>T
1 paper
NM_001270377.2
p.F25Y
c.74T>A
1 paper
NM_001270377.2
p.S28S
c.84C>T
1 paper
NM_001270377.2
p.G45S
c.133G>A
1 paper
NM_001270377.2
p.T47I
c.140C>T
1 paper
NM_001270377.2
p.K66E
c.196A>G
1 paper
NM_001270377.2
p.D70Y
c.208G>T
1 paper
NM_001270377.2
p.K100E
c.298A>G
1 paper
NM_001270377.2
p.C104Splc
c.312-2A>T
1 paper
NM_001270377.2
p.C104*
c.312C>A
1 paper
NM_001270377.2
p.S130S
c.390T>C
1 paper
NM_001270377.2
p.G138E
c.413G>A
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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."