Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF1
Variant:p.H33L

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.H33L
c.98A>T
Surrounding Variants
1 paper
NM_032268.5
p.Y37F
c.110A>T
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.P26Q
c.77C>A
1 paper
NM_032268.5
p.P26T
c.76C>A
1 paper
NM_032268.5
p.R47L
c.140G>T
2 papers
NM_032268.5
p.R49S
c.145C>A
1 paper
NM_032268.5
p.G17G
c.51G>T
2 papers
NM_032268.5
p.A64fs
c.190_191fs
1 paper
NM_032268.5
p.G65insFs
c.193dupG
1 paper
NM_032268.5
p.A64_G65insFs
c.192_193insGG
1 paper
NM_032268.5
p.V67delFs
c.199delG
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."