Varaico: Literature-Extracted Genetic Variants

Gene:RETSAT
Variant:p.R293*

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
2 papers
NM_017750.4
p.R293*
c.877C>T
Surrounding Variants
1 paper
NM_017750.4
p.P292S
c.874C>T
1 paper
NM_017750.4
p.P292T
c.874C>A
2 papers
NM_017750.4
p.H284R
c.851A>G
1 paper
NM_017750.4
p.P305H
c.914C>A
1 paper
NM_017750.4
p.A279T
c.835G>A
1 paper
NM_017750.4
p.R309W
c.925C>T
1 paper
NM_017750.4
p.L315I
c.943C>A
1 paper
NM_017750.4
p.P270T
c.808C>A
1 paper
NM_017750.4
p.S260S
c.780C>T
1 paper
NM_017750.4
p.V258A
c.773T>C
3 papers
NM_017750.4
p.Q256*
c.766C>T
1 paper
NM_017750.4
p.G250W
c.748G>T
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