Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L158P

SORD

644 papers

RefSeq Summary

Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathw...

Pfam Domains

ADH_Naa 31–145UCSCAlcohol dehydrogenase GroES-like domain
ADH_zinc_Naa 183–313UCSCZinc-binding dehydrogenase

Gene Aliases

HGNC Name

sorbitol dehydrogenase

HGNC Alias Symbol

SDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003104.6
p.L158P
c.473T>C
Surrounding Variants
1 paper
NM_003104.6
p.L158V
c.472C>G
2 papers
NM_003104.6
p.L158F
c.472C>T
1 paper
NM_003104.6
p.S159Y
c.476C>A
1 paper
NM_003104.6
p.V160insFs
c.479_480insGT
1 paper
NM_003104.6
p.S159F
c.476C>T
1 paper
NM_003104.6
p.P157T
c.469C>A
1 paper
NM_003104.6
p.S159S
c.477T>C
1 paper
NM_003104.6
p.V160delFs
c.478delG
1 paper
NM_003104.6
p.P157delFs
c.470delC
1 paper
NM_003104.6
p.E156G
c.467A>G
5 papers
NM_003104.6
p.E156V
c.467A>T
1 paper
NM_003104.6
p.G161delFs
c.481delG
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