Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.E101delFs

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.E101delFs
c.301delG
Surrounding Variants
1 paper
NM_003104.6
p.E101K
c.301G>A
8 papers
NM_003104.6
p.R100*
c.298C>T
2 papers
NM_003104.6
p.R100_E101delFs
c.298_301del4
2 papers
NM_003104.6
p.N102T
c.305A>C
1 paper
NM_003104.6
p.N102S
c.305A>G
3 papers
NM_003104.6
p.N102I
c.305A>T
1 paper
NM_003104.6
p.P99A
c.295C>G
5 papers
NM_003104.6
p.P99S
c.295C>T
1 paper
NM_003104.6
p.A98A
c.294T>C
2 papers
NM_003104.6
p.P99delFs
c.297delC
3 papers
NM_003104.6
p.A98V
c.293C>T
1 paper
NM_003104.6
p.D103N
c.307G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."