Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.R100_E101delFs

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.R100_E101delFs
c.298_301del4
Surrounding Variants
8 papers
NM_003104.6
p.R100*
c.298C>T
1 paper
NM_003104.6
p.P99A
c.295C>G
5 papers
NM_003104.6
p.P99S
c.295C>T
1 paper
NM_003104.6
p.E101delFs
c.301delG
1 paper
NM_003104.6
p.A98A
c.294T>C
2 papers
NM_003104.6
p.P99delFs
c.297delC
3 papers
NM_003104.6
p.A98V
c.293C>T
1 paper
NM_003104.6
p.E101K
c.301G>A
1 paper
NM_003104.6
p.A98insFs
c.293dupC
1 paper
NM_003104.6
p.A98delFs
c.292_293delGC
1 paper
NM_003104.6
p.G97A
c.290G>C
1 paper
NM_003104.6
p.A98del1
c.292_293delGCT
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