Varaico: Literature-Extracted Genetic Variants

Gene:C1orf174
Variant:p.S148fs

C1orf174

38 papers

Pfam Domains

UPF0688aa 6–237UCSCUPF0688 family

Gene Aliases

HGNC Name

chromosome 1 open reading frame 174

HGNC Alias Symbol

RP13-531C17.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207356.3
p.S148fs
c.442_443fs
Surrounding Variants
1 paper
NM_207356.3
p.G147delFs
c.441delC
1 paper
NM_207356.3
p.P142L
c.425C>T
2 papers
NM_207356.3
p.E164K
c.490G>A
2 papers
NM_207356.3
p.P165A
c.493C>G
1 paper
NM_207356.3
p.R131H
c.392G>A
1 paper
NM_207356.3
p.R131C
c.391C>T
1 paper
NM_207356.3
p.D129V
c.386A>T
1 paper
NM_207356.3
p.V127L
c.379G>T
1 paper
NM_207356.3
p.V127L
c.379G>C
1 paper
NM_207356.3
p.V126A
c.377T>C
1 paper
NM_207356.3
p.P176S
c.526C>T
1 paper
NM_207356.3
p.V195M
c.583G>A
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