Varaico: Literature-Extracted Genetic Variants

Gene:RNF212
Variant:p.S18W

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
3 papers
NM_001131034.4
p.S18W
c.53C>G
Surrounding Variants
1 paper
NM_001131034.4
p.S18L
c.53C>T
1 paper
NM_001131034.4
p.P13L
c.38C>T
1 paper
NM_001131034.4
p.D31E
c.93C>G
1 paper
NM_001131034.4
p.D31E
c.93C>A
1 paper
NM_001131034.4
p.G35insFs
c.103dupG
6 papers
NM_001131034.4
p.G37insFs
c.111dupT
1 paper
NM_001131034.4
p.C45_K46delFs
c.135_136delTA
2 papers
NM_001131034.4
p.H57L
c.170A>T
1 paper
NM_001131034.4
p.H57_T58Splc
c.171+1049C>T
1 paper
NM_001131034.4
p.H57_T58Splc
c.171+1163A>G
1 paper
NM_001131034.4
p.H57_T58Splc
c.171+2930C>T
1 paper
NM_001131034.4
p.H57_T58Splc
c.171+3017G>T
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