Varaico: Literature-Extracted Genetic Variants

Gene:RING1
Variant:p.A5A

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.A5A
c.15G>T
Surrounding Variants
1 paper
NM_002931.4
p.N6S
c.17A>G
1 paper
NM_002931.4
p.T13R
c.38C>G
1 paper
NM_002931.4
p.E15Q
c.43G>C
1 paper
NM_002931.4
p.Q26_E27Splc
c.78+248C>T
1 paper
NM_002931.4
p.D31E
c.93T>A
1 paper
NM_002931.4
p.L46L
c.138C>G
1 paper
NM_002931.4
p.F68Y
c.203T>A
1 paper
NM_002931.4
p.G80Splc
c.240-20C>T
1 paper
NM_002931.4
p.T86delFs
c.256delA
1 paper
NM_002931.4
p.C87G
c.259T>G
2 papers
NM_002931.4
p.K94E
c.280A>G
1 paper
NM_002931.4
p.R95*
c.283C>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."