Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF1
Variant:p.R169H

ZNRF1

29 papers

RefSeq Summary

This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc ...

Pfam Domains

zf-RING_2aa 182–223UCSCRing finger domain

Gene Aliases

HGNC Name

zinc and ring finger 1

HGNC Alias Symbols

nin283; FLJ14846; DKFZp434E229

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032268.5
p.R169H
c.506G>A
Surrounding Variants
1 paper
NM_032268.5
p.E156D
c.468G>C
1 paper
NM_032268.5
p.E156D
c.468G>T
1 paper
NM_032268.5
p.K144R
c.431A>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."