Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.E104V

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.E104V
c.311A>T
Surrounding Variants
1 paper
NM_003104.6
p.E104_F105insFs
c.312_313ins7
1 paper
NM_003104.6
p.E104insFs
c.311_312insG
1 paper
NM_003104.6
p.E104G
c.311A>G
1 paper
NM_003104.6
p.E104Fs
c.311delinsGGFs
2 papers
NM_003104.6
p.F105_C106del1
c.314_316delTCT
1 paper
NM_003104.6
p.D103_E104insFs
c.309_310ins11
1 paper
NM_003104.6
p.E104_M108delins
c.312_322delinsAT
1 paper
NM_003104.6
p.D103insFs
c.308_309insC
1 paper
NM_003104.6
p.D103N
c.307G>A
1 paper
NM_003104.6
p.C106delFs
c.317delG
2 papers
NM_003104.6
p.N102T
c.305A>C
1 paper
NM_003104.6
p.N102S
c.305A>G
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