Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.H50_Y51insFs

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.H50_Y51insFs
c.148_151dup4
Surrounding Variants
1 paper
NM_003104.6
p.V49_H50insFs
c.147_148insA
2 papers
NM_003104.6
p.H50insFs
c.149dupA
1 paper
NM_003104.6
p.H50Y
c.148C>T
1 paper
NM_003104.6
p.H50fs
c.148_149fs
1 paper
NM_003104.6
p.V49A
c.146T>C
1 paper
NM_003104.6
p.V49insFs
c.147dupC
5 papers
NM_003104.6
p.H50R
c.149A>G
1 paper
NM_003104.6
p.H50Q
c.150C>A
1 paper
NM_003104.6
p.H50H
c.150C>T
1 paper
NM_003104.6
p.D48V
c.143A>T
1 paper
NM_003104.6
p.D48insFs
c.143_144dupAT
3 papers
NM_003104.6
p.S47_D48insFs
c.141_142insG
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."