Varaico: Literature-Extracted Genetic Variants

Gene:RETSAT
Variant:p.S497C

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
1 paper
NM_017750.4
p.S497C
c.1490C>G
Surrounding Variants
1 paper
NM_017750.4
p.S492F
c.1475C>T
1 paper
NM_017750.4
p.N491fs
c.1471_1472fs
1 paper
NM_017750.4
p.K490delFs
c.1468_1469delTT
1 paper
NM_017750.4
p.P506S
c.1516C>T
1 paper
NM_017750.4
p.R482W
c.1444C>T
1 paper
NM_017750.4
p.K511_V512Splc
c.1533+5G>T
1 paper
NM_017750.4
p.E477G
c.1430A>G
2 papers
NM_017750.4
p.A476G
c.1427C>G
1 paper
NM_017750.4
p.K511_V512Splc
c.1533+29C>T
1 paper
NM_017750.4
p.Y468fs
c.1402_1403fs
1 paper
NM_017750.4
p.A467insFs
c.1400_1401insAC
1 paper
NM_017750.4
p.T466delFs
c.1397_1398delAG
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