Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.V92F

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
10 papers
NM_003104.6
p.V92F
c.274G>T
Surrounding Variants
2 papers
NM_003104.6
p.V92_P96del0
c.275_286del12
1 paper
NM_003104.6
p.V92_A93del0
c.274_279del6
1 paper
NM_003104.6
p.V92_A93del1
c.276_278delTGC
1 paper
NM_003104.6
p.A93delFs
c.277delG
1 paper
NM_003104.6
p.A93T
c.277G>A
1 paper
NM_003104.6
p.A93insFs
c.278dupC
1 paper
NM_003104.6
p.D90E
c.270T>A
1 paper
NM_003104.6
p.D90E
c.270T>G
1 paper
NM_003104.6
p.R91_I94del0
c.271_282del12
1 paper
NM_003104.6
p.D90A
c.269A>C
1 paper
NM_003104.6
p.R91del1
c.271_273delCGT
1 paper
NM_003104.6
p.I94_E95del2
c.280_284del6
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."