Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.Q239delFs

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.Q239delFs
c.716delA
Surrounding Variants
2 papers
NM_003104.6
p.Q239*
c.715C>T
1 paper
NM_003104.6
p.Q239insFs
c.717dupG
3 papers
NM_003104.6
p.Q239L
c.716A>T
1 paper
NM_003104.6
p.Q239delFs
c.717delG
2 papers
NM_003104.6
p.L240_G241delFs
c.718_721del4
2 papers
NM_003104.6
p.G238V
c.713G>T
2 papers
NM_003104.6
p.L240delFs
c.718_719delCT
1 paper
NM_003104.6
p.L240fs
c.718_719fs
1 paper
NM_003104.6
p.L240fs
c.718_719fs
1 paper
NM_003104.6
p.G238C
c.712G>T
2 papers
NM_003104.6
p.G238delFs
c.713delG
1 paper
NM_003104.6
p.L240P
c.719T>C
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."