Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L177I

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
2 papers
NM_003104.6
p.L177I
c.529C>A
Surrounding Variants
3 papers
NM_003104.6
p.L177F
c.529C>T
2 papers
NM_003104.6
p.V176F
c.526G>T
1 paper
NM_003104.6
p.K175_V176Fs
c.523_527delinsAAGGFs
1 paper
NM_003104.6
p.V178A
c.533T>C
1 paper
NM_003104.6
p.K175R
c.524A>G
1 paper
NM_003104.6
p.C179insFs
c.537dupT
1 paper
NM_003104.6
p.C179F
c.536G>T
1 paper
NM_003104.6
p.G180G
c.540A>G
1 paper
NM_003104.6
p.G173E
c.518G>A
2 papers
NM_003104.6
p.G173R
c.517G>A
1 paper
NM_003104.6
p.A181T
c.541G>A
2 papers
NM_003104.6
p.G173R
c.517G>C
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