Varaico: Literature-Extracted Genetic Variants

Gene:RNF212
Variant:p.K170_S171Splc

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.K170_S171Splc
c.511-1328T>C
Surrounding Variants
1 paper
NM_001131034.4
p.K170_S171Splc
c.511-1369C>T
1 paper
NM_001131034.4
p.K170_S171Splc
c.511-2401T>C
1 paper
NM_001131034.4
p.K170_S171Splc
c.511-2416T>C
1 paper
NM_001131034.4
p.K170_S171Splc
c.511-188A>C
1 paper
NM_001131034.4
p.K170_S171Splc
c.511-2523G>A
1 paper
NM_001131034.4
p.K170_S171Splc
c.511-45C>T
1 paper
NM_001131034.4
p.S171F
c.512C>T
1 paper
NM_001131034.4
p.E172D
c.516G>T
1 paper
NM_001131034.4
p.A175T
c.523G>A
1 paper
NM_001131034.4
p.K170_S171Splc
c.511-2690C>A
1 paper
NM_001131034.4
p.M182fs
c.544_545fs
1 paper
NM_001131034.4
p.G189E
c.566G>A
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