Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.V83L

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.V83L
c.247G>C
Surrounding Variants
1 paper
NM_003104.6
p.V83L
c.247G>T
1 paper
NM_003104.6
p.V83A
c.248T>C
1 paper
NM_003104.6
p.V83G
c.248T>G
1 paper
NM_003104.6
p.S82A
c.244T>G
1 paper
NM_003104.6
p.K84T
c.251A>C
1 paper
NM_003104.6
p.S81*
c.242C>G
11 papers
NM_003104.6
p.S81L
c.242C>T
2 papers
NM_003104.6
p.H85ins0
c.253_255dupCAC
1 paper
NM_003104.6
p.H85_L86insFs
c.253_256dup4
2 papers
NM_003104.6
p.S81delFs
c.242delC
1 paper
NM_003104.6
p.H85delFs
c.255delC
1 paper
NM_003104.6
p.S81_P88delFs
c.241_262del22
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