Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.E95_P96delins

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.E95_P96delins
c.285_286delinsAT
Surrounding Variants
2 papers
NM_003104.6
p.P96insFs
c.287dupC
1 paper
NM_003104.6
p.E95delFs
c.285delG
1 paper
NM_003104.6
p.E95_P96delFs
c.285_286delGC
5 papers
NM_003104.6
p.P96S
c.286C>T
2 papers
NM_003104.6
p.P96L
c.287C>T
1 paper
NM_003104.6
p.P96_G97del1
c.288_290delTGG
1 paper
NM_003104.6
p.E95*
c.283G>T
1 paper
NM_003104.6
p.E95fs
c.283_284fs
2 papers
NM_003104.6
p.I94_E95insFs
c.282_283ins4
1 paper
NM_003104.6
p.G97A
c.290G>C
1 paper
NM_003104.6
p.A98del1
c.292_293delGCT
1 paper
NM_003104.6
p.I94_E95del2
c.280_284del6
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