Varaico: Literature-Extracted Genetic Variants

Gene:RNF212
Variant:p.L253fs

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.L253fs
c.757_758fs
Surrounding Variants
1 paper
NM_001131034.4
p.L253insFs
c.757_758insAC
1 paper
NM_001131034.4
p.T248I
c.743C>T
1 paper
NM_001131034.4
p.V259A
c.776T>C
1 paper
NM_001131034.4
p.T248A
c.742A>G
1 paper
NM_001131034.4
p.Q260R
c.779A>G
1 paper
NM_001131034.4
p.R261S
c.783G>T
1 paper
NM_001131034.4
p.R261S
c.783G>C
1 paper
NM_001131034.4
p.H244delFs
c.731delT
1 paper
NM_001131034.4
p.V263I
c.787G>A
1 paper
NM_001131034.4
p.F265Y
c.794T>A
1 paper
NM_001131034.4
p.S240_S241delFs
c.720_723del4
1 paper
NM_001131034.4
p.S241fs
c.721_722fs
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