Varaico: Literature-Extracted Genetic Variants

Gene:RETSAT
Variant:p.K511_V512Splc

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.K511_V512Splc
c.1534-84T>A
Surrounding Variants
1 paper
NM_017750.4
p.K511_V512Splc
c.1534-80T>C
1 paper
NM_017750.4
p.K511_V512Splc
c.1534-78C>G
1 paper
NM_017750.4
p.K511_V512Splc
c.1534-57T>C
1 paper
NM_017750.4
p.K511_V512Splc
c.1533+29C>T
1 paper
NM_017750.4
p.K511_V512Splc
c.1533+5G>T
1 paper
NM_017750.4
p.P506S
c.1516C>T
1 paper
NM_017750.4
p.R531Q
c.1592G>A
9 papers
NM_017750.4
p.A533V
c.1598C>T
13 papers
NM_017750.4
p.G536R
c.1606G>C
13 papers
NM_017750.4
p.G536R
c.1606G>A
1 paper
NM_017750.4
p.S497C
c.1490C>G
1 paper
NM_017750.4
p.L541V
c.1621C>G
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