Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.P124_C130delins

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.P124_C130delins
c.371_390delinsGG
Surrounding Variants
1 paper
NM_003104.6
p.P124S
c.370C>T
1 paper
NM_003104.6
p.P124P
c.372C>T
1 paper
NM_003104.6
p.P123_P124insFs
c.369_370insA
1 paper
NM_003104.6
p.P124insFs
c.370_371ins5
1 paper
NM_003104.6
p.D125N
c.373G>A
1 paper
NM_003104.6
p.D125H
c.373G>C
1 paper
NM_003104.6
p.D125insFs
c.373_374ins11
1 paper
NM_003104.6
p.D125fs
c.373_374fs
1 paper
NM_003104.6
p.D126insFs
c.376dupG
1 paper
NM_003104.6
p.D126_R131delFs
c.376_391del16
1 paper
NM_003104.6
p.P123insFs
c.367dupC
2 papers
NM_003104.6
p.P124delFs
c.370delC
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