Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.E151insFs

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.E151insFs
c.451_452insC
Surrounding Variants
1 paper
NM_003104.6
p.E151K
c.451G>A
1 paper
NM_003104.6
p.E151D
c.453A>T
3 papers
NM_003104.6
p.G152S
c.454G>A
1 paper
NM_003104.6
p.E150K
c.448G>A
1 paper
NM_003104.6
p.G152C
c.454G>T
1 paper
NM_003104.6
p.E150delFs
c.449delA
1 paper
NM_003104.6
p.G152_I155del0
c.455_463del9
2 papers
NM_003104.6
p.G152A
c.455G>C
2 papers
NM_003104.6
p.E150del1
c.448_450delGAG
1 paper
NM_003104.6
p.F149Y
c.446T>A
1 paper
NM_003104.6
p.L154delFs
c.460delC
1 paper
NM_003104.6
p.F149Fs
c.445_446delinsGGTATCTFs
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