Varaico: Literature-Extracted Genetic Variants

Gene:RNF212
Variant:p.H57_T58Splc

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
Selected Variant
1 paper
NM_001131034.4
p.H57_T58Splc
c.172-435T>C
Surrounding Variants
2 papers
NM_001131034.4
p.D59N
c.175G>A
1 paper
NM_001131034.4
p.A64P
c.190G>C
1 paper
NM_001131034.4
p.K75_T80insFs
c.224_240dup17
1 paper
NM_001131034.4
p.Q82E
c.244C>G
1 paper
NM_001131034.4
p.H57_T58Splc
c.172-1392C>A
1 paper
NM_001131034.4
p.H57_T58Splc
c.172-1778T>C
1 paper
NM_001131034.4
p.H57_T58Splc
c.172-3524C>T
1 paper
NM_001131034.4
p.Q82_I83Splc
c.246+2652T>C
1 paper
NM_001131034.4
p.H57_T58Splc
c.172-3687C>T
1 paper
NM_001193318.3
p.Q188*
c.562C>T
1 paper
NM_001131034.4
p.H57_T58Splc
c.172-4043A>G
1 paper
NM_001193318.3
p.I262V
c.784A>G
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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."