Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.A253T

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.A253T
c.757G>A
Surrounding Variants
3 papers
NM_003104.6
p.A253fs
c.757_758fs
24 papers
NM_003104.6
p.A253fs
c.757_758fs
1 paper
NM_003104.6
p.G252G
c.756G>A
1 paper
NM_003104.6
p.A253delFs
c.757_758delGC
1 paper
NM_003104.6
p.G252V
c.755G>T
1 paper
NM_003104.6
p.E254K
c.760G>A
1 paper
NM_003104.6
p.E254insFs
c.761dupA
1 paper
NM_003104.6
p.E254insFs
c.761_762insC
65 papers
NM_003104.6
p.A253delFs
c.757delG
1 paper
NM_003104.6
p.T251fs
c.751_752fs
1 paper
NM_003104.6
p.A255T
c.763G>A
1 paper
NM_003104.6
p.S256_I257insTTT
c.766_770ins9
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."