Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.G74insFs

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.G74insFs
c.221dupG
Surrounding Variants
1 paper
NM_003104.6
p.S73insFs
c.218_219insA
7 papers
NM_003104.6
p.S73L
c.218C>T
1 paper
NM_003104.6
p.S73P
c.217T>C
1 paper
NM_003104.6
p.G74R
c.220G>A
1 paper
NM_003104.6
p.G74insFs
c.221_222ins4
1 paper
NM_003104.6
p.S73_V76del4
c.217_227del12
1 paper
NM_003104.6
p.A72T
c.214G>A
1 paper
NM_003104.6
p.A72delFs
c.215delC
1 paper
NM_003104.6
p.T75P
c.223A>C
2 papers
NM_003104.6
p.T75delFs
c.224delC
1 paper
NM_003104.6
p.E71G
c.212A>G
1 paper
NM_003104.6
p.T75R
c.224C>G
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