Varaico: Literature-Extracted Genetic Variants

Gene:REC114
Variant:p.K175N

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.K175N
c.525G>C
Surrounding Variants
1 paper
NM_001042367.2
p.K175delFs
c.523_524delAA
7 papers
NM_001042367.2
p.G182_S183Splc
c.546+5G>A
1 paper
NM_001042367.2
p.P162L
c.485C>T
1 paper
NM_001042367.2
p.I159_P160delFs
c.475_478del4
1 paper
NM_001042367.2
p.A141V
c.422C>T
1 paper
NM_001042367.2
p.A141P
c.421G>C
7 papers
NM_001042367.2
p.C133G
c.397T>G
1 paper
NM_001042367.2
p.E127K
c.379G>A
1 paper
NM_001042367.2
p.S122C
c.364A>T
3 papers
NM_001042367.2
p.K111_D112Splc
c.334-1G>A
4 papers
NM_001042367.2
p.Q190*
c.568C>T
NM_001348772.2
p.Q162*
c.484C>T
1 paper
NM_001042367.2
p.V194I
c.580G>A
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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."