Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.R234_K243del10

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.R234_K243del10
c.700_728del30
Surrounding Variants
1 paper
NM_003104.6
p.A233V
c.698C>T
1 paper
NM_003104.6
p.A233T
c.697G>A
1 paper
NM_003104.6
p.I232I
c.696C>T
2 papers
NM_003104.6
p.K235R
c.704A>G
1 paper
NM_003104.6
p.I232fs
c.694_695fs
1 paper
NM_003104.6
p.V236I
c.706G>A
2 papers
NM_003104.6
p.E237K
c.709G>A
1 paper
NM_003104.6
p.E237A
c.710A>C
1 paper
NM_003104.6
p.Q230E
c.688C>G
3 papers
NM_003104.6
p.Q230*
c.688C>T
2 papers
NM_003104.6
p.G238delFs
c.713delG
1 paper
NM_003104.6
p.Q230delFs
c.688delC
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."