Varaico: Literature-Extracted Genetic Variants

Gene:RMI1
Variant:p.G309A

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
Selected Variant
1 paper
NM_001358291.2
p.G309A
c.926G>C
Surrounding Variants
1 paper
NM_001358291.2
p.V306A
c.917T>C
1 paper
NM_001358291.2
p.S292A
c.874T>G
1 paper
NM_001358291.2
p.E332K
c.994G>A
3 papers
NM_001358291.2
p.K334E
c.1000A>G
1 paper
NM_001358291.2
p.R347G
c.1039C>G
1 paper
NM_001358291.2
p.R267Q
c.800G>A
1 paper
NM_001358291.2
p.N357Y
c.1069A>T
1 paper
NM_001358291.2
p.T359K
c.1076C>A
1 paper
NM_001358291.2
p.A249V
c.746C>T
1 paper
NM_001358291.2
p.S374N
c.1121G>A
1 paper
NM_001358291.2
p.S379P
c.1135T>C
1 paper
NM_001358291.2
p.K205*
c.613A>T
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