Varaico: Literature-Extracted Genetic Variants

Gene:RMI2
Variant:p.M105_G106insFs

RMI2

29 papers

RefSeq Summary

RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082...

Pfam Domains

RMI2aa 21–143UCSCRecQ-mediated genome instability protein 2

Gene Aliases

HGNC Name

RecQ mediated genome instability 2

HGNC Previous Symbol

C16orf75

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152308.3
p.M105_G106insFs
c.315_316insC
Surrounding Variants
2 papers
NM_152308.3
p.K121E
c.361A>G
1 paper
NM_152308.3
p.T123T
c.369A>C
2 papers
NM_152308.3
p.L125F
c.373C>T
1 paper
NM_152308.3
p.S126A
c.376T>G
1 paper
NM_152308.3
p.M134V
c.400A>G
1 paper
NM_152308.3
p.M134R
c.401T>G
1 paper
NM_152308.3
p.L137R
c.410T>G
1 paper
NM_152308.3
p.E138A
c.413A>C
1 paper
NM_152308.3
p.E138D
c.414G>C
1 paper
NM_152308.3
p.D141A
c.422A>C
2 papers
NM_152308.3
p.N145S
c.434A>G
1 paper
NM_152308.3
p.G99Splc
c.295+1065C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."