Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.K78R

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.K78R
c.233A>G
Surrounding Variants
1 paper
NM_003104.6
p.K78I
c.233A>T
2 papers
NM_003104.6
p.K78_S81del0
c.234_242del9
1 paper
NM_003104.6
p.K78N
c.234A>C
1 paper
NM_003104.6
p.K78*
c.232A>T
1 paper
NM_003104.6
p.K78N
c.234A>T
1 paper
NM_003104.6
p.K78_S81delFs
c.234_243del10
1 paper
NM_003104.6
p.E77V
c.230A>T
1 paper
NM_003104.6
p.V76_E77insFs
c.228_229insA
1 paper
NM_003104.6
p.V76V
c.228C>T
1 paper
NM_003104.6
p.V76G
c.227T>G
1 paper
NM_003104.6
p.S81_P88delFs
c.241_262del22
1 paper
NM_003104.6
p.V76I
c.226G>A
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