Varaico: Literature-Extracted Genetic Variants

Gene:RMI2
Variant:p.A56A

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.A56A
c.168G>A
Surrounding Variants
1 paper
NM_152308.3
p.V58M
c.172G>A
1 paper
NM_152308.3
p.W59L
c.176G>T
1 paper
NM_152308.3
p.M66_A67del2
c.196_200del6
2 papers
NM_152308.3
p.A47V
c.140C>T
1 paper
NM_152308.3
p.M66_A67del1
c.198_200delGGC
1 paper
NM_152308.3
p.A46_G51del0
c.138_152del15
1 paper
NM_152308.3
p.L43_S44del1
c.129_131delGTC
1 paper
NM_152308.3
p.L43_G49del0
c.128_145del18
1 paper
NM_152308.3
p.W41_R45del0
c.123_134del12
1 paper
NM_152308.3
p.W41_L53del0
c.122_157del36
1 paper
NM_152308.3
p.W41_A46del0
c.121_138del18
1 paper
NM_152308.3
p.G39_W41delins
c.116_122delinsC
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."