Varaico: Literature-Extracted Genetic Variants

Gene:SDR16C5
Variant:p.S240F

SDR16C5

19 papers

RefSeq Summary

This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated wi...

Pfam Domains

adh_shortaa 41–238UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

short chain dehydrogenase/reductase family 16C member 5

HGNC Alias Symbols

RDHE2; RDH-E2; EPHD-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138969.4
p.S240F
c.719C>T
Surrounding Variants
1 paper
NM_138969.4
p.G237Splc
c.711-1G>A
1 paper
NM_138969.4
p.L265S
c.794T>C
1 paper
NM_138969.4
p.M267I
c.801G>T
1 paper
NM_138969.4
p.M267I
c.801G>C
1 paper
NM_138969.4
p.M267I
c.801G>A
1 paper
NM_138969.4
p.P223S
c.667C>T
1 paper
NM_138969.4
p.T219M
c.656C>T
1 paper
NM_138969.4
p.I165N
c.494T>A
1 paper
NM_138969.4
p.E143K
c.427G>A
1 paper
NM_138969.4
p.D139Y
c.415G>T
1 paper
NM_138969.4
p.V129L
c.385G>T
1 paper
NM_138969.4
p.V129L
c.385G>C
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