Varaico: Literature-Extracted Genetic Variants

Gene:REC114
Variant:p.A2A

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.A2A
c.6G>T
Surrounding Variants
1 paper
NM_001042367.2
p.E3K
c.7G>A
1 paper
NM_001042367.2
p.A2T
c.4G>A
1 paper
NM_001042367.2
p.M1I
c.3G>T
1 paper
NM_001042367.2
p.A4delins
c.10_12delinsCTT
1 paper
NM_001042367.2
p.M1V
c.1A>G
1 paper
NM_001042367.2
p.V7G
c.20T>G
1 paper
NM_001042367.2
p.P22L
c.65C>T
1 paper
NM_001042367.2
p.Q24Q
c.72G>A
1 paper
NM_001042367.2
p.R25W
c.73C>T
1 paper
NM_001042367.2
p.A27T
c.79G>A
1 paper
NM_001042367.2
p.R28S
c.82C>A
3 papers
NM_001042367.2
p.R28C
c.82C>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."