Varaico: Literature-Extracted Genetic Variants

Gene:RMI1
Variant:p.K205*

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.K205*
c.613A>T
Surrounding Variants
1 paper
NM_001358291.2
p.V179F
c.535G>T
1 paper
NM_001358291.2
p.G178C
c.532G>T
1 paper
NM_001358291.2
p.I173T
c.518T>C
1 paper
NM_001358291.2
p.L161V
c.481C>G
1 paper
NM_001358291.2
p.A249V
c.746C>T
1 paper
NM_001358291.2
p.Y151F
c.452A>T
1 paper
NM_001358291.2
p.Y151N
c.451T>A
1 paper
NM_001358291.2
p.M149V
c.445A>G
1 paper
NM_001358291.2
p.R267Q
c.800G>A
1 paper
NM_001358291.2
p.M134I
c.402G>A
1 paper
NM_001358291.2
p.M134I
c.402G>C
1 paper
NM_001358291.2
p.M134I
c.402G>T
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