Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF1
Variant:p.D212H

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
1 paper
NM_032268.5
p.D212H
c.634G>C
Surrounding Variants
2 papers
NM_032268.5
p.D212N
c.634G>A
1 paper
NM_032268.5
p.L192fs
c.574_575fs
1 paper
NM_032268.5
p.L192_Q193insGG
c.574_578ins6
1 paper
NM_032268.5
p.L191delFs
c.573delG
1 paper
NM_032268.5
p.E183A
c.548A>C
1 paper
NM_032268.5
p.G182D
c.545G>A
1 paper
NM_032268.5
p.D180D
c.540C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."