Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.V292_D293del2

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.V292_D293del2
c.874_878del6
Surrounding Variants
1 paper
NM_003104.6
p.E291V
c.872A>T
3 papers
NM_003104.6
p.E291K
c.871G>A
1 paper
NM_003104.6
p.E291*
c.871G>T
2 papers
NM_003104.6
p.I294V
c.880A>G
1 paper
NM_003104.6
p.I294I
c.882C>T
1 paper
NM_003104.6
p.A288_R290del3
c.862_869del9
2 papers
NM_003104.6
p.A287T
c.859G>A
1 paper
NM_003104.6
p.V297M
c.889G>A
1 paper
NM_003104.6
p.H286Y
c.856C>T
1 paper
NM_003104.6
p.V297A
c.890T>C
2 papers
NM_003104.6
p.F298_C301del4
c.892_902del12
1 paper
NM_003104.6
p.L285L
c.853C>T
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