Varaico: Literature-Extracted Genetic Variants

Gene:RMI1
Variant:p.S477N

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.S477N
c.1430G>A
Surrounding Variants
1 paper
NM_001358291.2
p.L480F
c.1438C>T
1 paper
NM_001358291.2
p.S474P
c.1420T>C
1 paper
NM_001358291.2
p.Q467R
c.1400A>G
1 paper
NM_001358291.2
p.S495F
c.1484C>T
6 papers
NM_001358291.2
p.N455S
c.1364A>G
1 paper
NM_001358291.2
p.P502L
c.1505C>T
1 paper
NM_001358291.2
p.K511N
c.1533A>C
1 paper
NM_001358291.2
p.K511N
c.1533A>T
1 paper
NM_001358291.2
p.I427_Q429delFs
c.1281_1285del5
1 paper
NM_001358291.2
p.I427fs
c.1279_1280fs
2 papers
NM_001358291.2
p.K419fs
c.1255_1256fs
2 papers
NM_001358291.2
p.K419_N420delFs
c.1255_1259del5
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