Varaico: Literature-Extracted Genetic Variants

Gene:RETSAT
Variant:p.F134fs

RETSAT

70 papers

Pfam Domains

NAD_binding_8aa 72–135UCSCNAD(P)-binding Rossmann-like domain

Gene Aliases

HGNC Name

retinol saturase

HGNC Alias Symbol

FLJ20296

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_017750.4
p.F134fs
c.400_401fs
Surrounding Variants
3 papers
NM_017750.4
p.F134fs
c.400_401fs
1 paper
NM_017750.4
p.R133C
c.397C>T
1 paper
NM_017750.4
p.R133S
c.397C>A
5 papers
NM_017750.4
p.F134delFs
c.402delA
1 paper
NM_017750.4
p.R125L
c.374G>T
1 paper
NM_017750.4
p.R125H
c.374G>A
1 paper
NM_017750.4
p.G124W
c.370G>T
1 paper
NM_017750.4
p.W146*
c.437G>A
1 paper
NM_017750.4
p.W146*
c.438G>A
1 paper
NM_017750.4
p.P148L
c.443C>T
1 paper
NM_017750.4
p.P152S
c.454C>T
1 paper
NM_017750.4
p.E159G
c.476A>G
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