Varaico: Literature-Extracted Genetic Variants

Gene:RMI2
Variant:p.E35_A40del0

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.E35_A40del0
c.105_119del15
Surrounding Variants
1 paper
NM_152308.3
p.G36del1
c.106_108delGGC
1 paper
NM_152308.3
p.E35_A46del0
c.103_138del36
1 paper
NM_152308.3
p.P38_A46del0
c.112_138del27
1 paper
NM_152308.3
p.G39_W41delins
c.116_122delinsC
1 paper
NM_152308.3
p.W41_A46del0
c.121_138del18
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.L43_G49del0
c.128_145del18
1 paper
NM_152308.3
p.A27V
c.80C>T
1 paper
NM_152308.3
p.L43_S44del1
c.129_131delGTC
1 paper
NM_152308.3
p.A46_G51del0
c.138_152del15
2 papers
NM_152308.3
p.A47V
c.140C>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."