Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.A93insFs

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.A93insFs
c.278dupC
Surrounding Variants
1 paper
NM_003104.6
p.A93T
c.277G>A
1 paper
NM_003104.6
p.A93delFs
c.277delG
1 paper
NM_003104.6
p.I94_E95del2
c.280_284del6
1 paper
NM_003104.6
p.V92_A93del1
c.276_278delTGC
10 papers
NM_003104.6
p.V92F
c.274G>T
2 papers
NM_003104.6
p.V92_P96del0
c.275_286del12
1 paper
NM_003104.6
p.V92_A93del0
c.274_279del6
2 papers
NM_003104.6
p.I94_E95insFs
c.282_283ins4
1 paper
NM_003104.6
p.E95*
c.283G>T
1 paper
NM_003104.6
p.E95fs
c.283_284fs
1 paper
NM_003104.6
p.E95delFs
c.285delG
1 paper
NM_003104.6
p.E95_P96delFs
c.285_286delGC
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