Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.K214E

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
2 papers
NM_003104.6
p.K214E
c.640A>G
Surrounding Variants
1 paper
NM_003104.6
p.K214T
c.641A>C
2 papers
NM_003104.6
p.K214R
c.641A>G
1 paper
NM_003104.6
p.K214delFs
c.641delA
1 paper
NM_003104.6
p.A213D
c.638C>A
1 paper
NM_003104.6
p.A213insFs
c.638_639insA
2 papers
NM_003104.6
p.A213V
c.638C>T
1 paper
NM_003104.6
p.K214N
c.642G>C
1 paper
NM_003104.6
p.K214N
c.642G>T
1 paper
NM_003104.6
p.E215delFs
c.644_645delAG
2 papers
NM_003104.6
p.E215K
c.643G>A
1 paper
NM_003104.6
p.A213delFs
c.639delC
1 paper
NM_003104.6
p.E215A
c.644A>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."