Varaico: Literature-Extracted Genetic Variants

Gene:SORD

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
1–12 of 808 variants
65 papers
NM_003104.6
p.A253delFs
c.757delG
24 papers
NM_003104.6
p.A253fs
c.757_758fs
17 papers
NM_003104.6
p.A153D
c.458C>A
14 papers
NM_003104.6
p.C242Y
c.725G>A
11 papers
NM_003104.6
p.S81L
c.242C>T
11 papers
NM_003104.6
p.F139S
c.416T>C
10 papers
NM_003104.6
p.G46D
c.137G>A
10 papers
NM_003104.6
p.V92F
c.274G>T
10 papers
NM_003104.6
p.R110P
c.329G>C
10 papers
NM_003104.6
p.H135R
c.404A>G
9 papers
NM_003104.6
p.T303Splc
c.908+1G>C
8 papers
NM_003104.6
p.L22L
c.64C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."