Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.K142Splc

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.K142Splc
c.425+1G>A
Surrounding Variants
2 papers
NM_003104.6
p.K142M
c.425A>T
1 paper
NM_003104.6
p.K142Q
c.424A>C
1 paper
NM_003104.6
p.K142E
c.424A>G
1 paper
NM_003104.6
p.Y141H
c.421T>C
1 paper
NM_003104.6
p.Y141D
c.421T>G
2 papers
NM_003104.6
p.C140S
c.419G>C
2 papers
NM_003104.6
p.C140S
c.418T>A
1 paper
NM_003104.6
p.C140_Y141insG
c.418_422ins3
1 paper
NM_003104.6
p.C140fs
c.418_419fs
11 papers
NM_003104.6
p.F139S
c.416T>C
1 paper
NM_003104.6
p.F139C
c.416T>G
2 papers
NM_003104.6
p.C140delFs
c.418delT
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."