Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC3
Variant:p.G249*

NHLRC3

26 papers

RefSeq Summary

This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modi...

Pfam Domains

NHLaa 213–240UCSCNHL repeat

Gene Aliases

HGNC Name

NHL repeat containing 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012754.4
p.G249*
c.745G>T
Surrounding Variants
1 paper
NM_001012754.4
p.T256A
c.766A>G
1 paper
NM_001012754.4
p.R232*
c.694C>T
1 paper
NM_001012754.4
p.V290E
c.869T>A
1 paper
NM_001012754.4
p.S300N
c.899G>A
1 paper
NM_001012754.4
p.I302L
c.904A>C
1 paper
NM_001012754.4
p.A305T
c.913G>A
2 papers
NM_001012754.4
p.A305V
c.914C>T
1 paper
NM_001012754.4
p.P310L
c.929C>T
1 paper
NM_001012754.4
p.D316Y
c.946G>T
1 paper
NM_001012754.4
p.L221R
c.662T>G
1 paper
NM_001012754.4
p.L221I
c.661C>A
1 paper
NM_001012754.4
p.R189G
c.565A>G
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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."