Varaico: Literature-Extracted Genetic Variants

Gene:REC114
Variant:p.V194I

REC114

45 papers

RefSeq Summary

The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserv...

Pfam Domains

REC114-likeaa 21–261UCSCMeiotic recombination protein REC114-like

Gene Aliases

HGNC Name

REC114 meiotic recombination protein

HGNC Previous Symbol

C15orf60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042367.2
p.V194I
c.580G>A
Surrounding Variants
1 paper
NM_001042367.2
p.A196V
c.587C>T
4 papers
NM_001042367.2
p.Q190*
c.568C>T
NM_001348772.2
p.Q162*
c.484C>T
1 paper
NM_001042367.2
p.G199C
c.595G>T
1 paper
NM_001042367.2
p.A200A
c.600T>G
1 paper
NM_001042367.2
p.A211T
c.631G>A
1 paper
NM_001042367.2
p.A211P
c.631G>C
1 paper
NM_001042367.2
p.L214delFs
c.640_641delCT
1 paper
NM_001042367.2
p.S217L
c.650C>T
2 papers
NM_001042367.2
p.L220_P236ins5
c.659_706dup48
1 paper
NM_001042367.2
p.E225Q
c.673G>C
1 paper
NM_001042367.2
p.G235D
c.704G>A
1 paper
NM_001042367.2
p.P248S
c.742C>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."