Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF1

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
1–12 of 32 variants
3 papers
NM_032268.5
p.Y103F
c.308A>T
2 papers
NM_032268.5
p.R49S
c.145C>A
2 papers
NM_032268.5
p.A64fs
c.190_191fs
2 papers
NM_032268.5
p.P86A
c.256C>G
2 papers
NM_032268.5
p.R169H
c.506G>A
2 papers
NM_032268.5
p.D212N
c.634G>A
1 paper
NM_032268.5
p.G17G
c.51G>T
1 paper
NM_032268.5
p.P26T
c.76C>A
1 paper
NM_032268.5
p.P26Q
c.77C>A
1 paper
NM_032268.5
p.G29R
c.85G>A
1 paper
NM_032268.5
p.G29R
c.85G>C
1 paper
NM_032268.5
p.H33L
c.98A>T
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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."