Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.R110_Y111insFs

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.R110_Y111insFs
c.330_333dup4
Surrounding Variants
10 papers
NM_003104.6
p.R110P
c.329G>C
2 papers
NM_003104.6
p.R110_Y111delFs
c.330_331delAT
1 paper
NM_003104.6
p.R110_Y111ins9
c.330_331ins27
1 paper
NM_003104.6
p.R110insFs
c.328_329insG
1 paper
NM_003104.6
p.R110*
c.328C>T
1 paper
NM_003104.6
p.Y111F
c.332A>T
1 paper
NM_003104.6
p.N112_L113delFs
c.334_337del4
3 papers
NM_003104.6
p.G109V
c.326G>T
1 paper
NM_003104.6
p.M108I
c.324G>C
2 papers
NM_003104.6
p.G109_N112delFs
c.325_335del11
1 paper
NM_003104.6
p.N112insFs
c.336dupT
2 papers
NM_003104.6
p.L113_S114delFs
c.337_340del4
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