Varaico: Literature-Extracted Genetic Variants

Gene:RMI1

RMI1

70 papers

Pfam Domains

RMI1_N_Naa 14–64UCSCRMI1, N-terminal helical domain
RMI1_N_Caa 69–205UCSCRMI1, N-terminal OB-fold domain
RMI1_Caa 488–623UCSCRecq-mediated genome instability protein 1, C-terminal OB-fold

Gene Aliases

HGNC Name

RecQ mediated genome instability 1

HGNC Previous Symbol

C9orf76

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
6 papers
NM_001358291.2
p.N455S
c.1364A>G
3 papers
NM_001358291.2
p.K334E
c.1000A>G
2 papers
NM_001358291.2
p.E28G
c.83A>G
2 papers
NM_001358291.2
p.K419_N420delFs
c.1255_1259del5
2 papers
NM_001358291.2
p.K419fs
c.1255_1256fs
1 paper
NM_001358291.2
p.A10D
c.29C>A
1 paper
NM_001358291.2
p.H19Y
c.55C>T
1 paper
NM_001358291.2
p.P24L
c.71C>T
1 paper
NM_001358291.2
p.N38fs
c.112_113fs
1 paper
NM_001358291.2
p.W56*
c.167G>A
1 paper
NM_001358291.2
p.W56*
c.168G>A
1 paper
NM_001358291.2
p.D60H
c.178G>C
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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."