Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.A164delFs

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.A164delFs
c.491delC
Surrounding Variants
1 paper
NM_003104.6
p.H163H
c.489T>C
2 papers
NM_003104.6
p.C165delFs
c.493delT
1 paper
NM_003104.6
p.H163Y
c.487C>T
1 paper
NM_003104.6
p.C165W
c.495C>G
2 papers
NM_003104.6
p.R166_V170del5
c.496_509del15
1 paper
NM_003104.6
p.I162F
c.484A>T
1 paper
NM_003104.6
p.R166W
c.496A>T
1 paper
NM_003104.6
p.R166delFs
c.498delG
1 paper
NM_003104.6
p.R166K
c.497G>A
1 paper
NM_003104.6
p.R167R
c.499A>C
1 paper
NM_003104.6
p.R167G
c.499A>G
1 paper
NM_003104.6
p.R167*
c.499A>T
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