Varaico: Literature-Extracted Genetic Variants

Gene:RING1
Variant:p.G344delFs

RING1

188 papers

RefSeq Summary

This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and ...

Pfam Domains

zf-C3HC4aa 48–87UCSCZinc finger, C3HC4 type (RING finger)
RAWULaa 282–400UCSCRAWUL domain RING finger- and WD40-associated ubiquitin-like

Gene Aliases

HGNC Name

ring finger protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002931.4
p.G344delFs
c.1030delG
Surrounding Variants
1 paper
NM_002931.4
p.G342G
c.1026T>G
1 paper
NM_002931.4
p.G340R
c.1018G>A
1 paper
NM_002931.4
p.G338V
c.1013G>T
1 paper
NM_002931.4
p.E335G
c.1004A>G
3 papers
NM_002931.4
p.G328E
c.983G>A
1 paper
NM_002931.4
p.G322S
c.964G>A
1 paper
NM_002931.4
p.G370R
c.1108G>A
1 paper
NM_002931.4
p.G370R
c.1108G>C
1 paper
NM_002931.4
p.Q311H
c.933G>C
1 paper
NM_002931.4
p.Q311H
c.933G>T
1 paper
NM_002931.4
p.Q311*
c.931C>T
1 paper
NM_002931.4
p.Q310H
c.930G>C
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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."