Varaico: Literature-Extracted Genetic Variants

Gene:RNF212

RNF212

55 papers

RefSeq Summary

This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium bloc...

Pfam Domains

zf-RING_5aa 6–47UCSCzinc-RING finger domain

Gene Aliases

HGNC Name

ring finger protein 212

HGNC Previous Symbol

LOC285498

Papers
RefSeq ID
Protein change
DNA change
1–12 of 107 variants
6 papers
NM_001131034.4
p.G37insFs
c.111dupT
6 papers
NM_001131034.4
p.S241ins7
c.721_722ins21
3 papers
NM_001131034.4
p.S18W
c.53C>G
2 papers
NM_001131034.4
p.H57L
c.170A>T
2 papers
NM_001131034.4
p.H57_T58Splc
c.172-4654T>C
2 papers
NM_001131034.4
p.D59N
c.175G>A
2 papers
NM_001131034.4
p.S121Splc
c.362+1497C>T
2 papers
NM_001131034.4
p.K170_S171Splc
c.510+2718T>G
2 papers
NM_001131034.4
p.W204L
c.611G>T
2 papers
NM_001131034.4
p.S241ins2
c.721_722ins6
1 paper
NM_001131034.4
p.P13L
c.38C>T
1 paper
NM_001131034.4
p.S18L
c.53C>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."