Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.R21insFs

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.R21insFs
c.63dupC
Surrounding Variants
1 paper
NM_003104.6
p.L22_E23insC
c.64_68ins3
8 papers
NM_003104.6
p.L22L
c.64C>T
1 paper
NM_003104.6
p.L22insFs
c.65_66ins4
1 paper
NM_003104.6
p.L20fs
c.58_59fs
1 paper
NM_003104.6
p.L20fs
c.58_59fs
1 paper
NM_003104.6
p.L22_E23Splc
c.66+1G>T
1 paper
NM_003104.6
p.D19delFs
c.57delC
1 paper
NM_003104.6
p.L22_E23Splc
c.66+2T>G
1 paper
NM_003104.6
p.D19N
c.55G>A
3 papers
NM_003104.6
p.G18_D19insFs
c.54_55insC
1 paper
NM_003104.6
p.D19insFs
c.55_56dupGA
1 paper
NM_003104.6
p.G18E
c.53G>A
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