Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.E34Splc

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.E34Splc
c.101-5A>G
Surrounding Variants
1 paper
NM_003104.6
p.E34Splc
c.101-1G>T
1 paper
NM_003104.6
p.E34G
c.101A>G
1 paper
NM_003104.6
p.E34E
c.102G>A
1 paper
NM_003104.6
p.V35F
c.103G>T
1 paper
NM_003104.6
p.V35D
c.104T>A
1 paper
NM_003104.6
p.V35insFs
c.105dupC
2 papers
NM_003104.6
p.L36_L37del2
c.106_110del6
1 paper
NM_003104.6
p.L37Q
c.110T>A
1 paper
NM_003104.6
p.L37_R38insFs
c.111_112dupGA
1 paper
NM_003104.6
p.R38delFs
c.112delA
1 paper
NM_003104.6
p.R38fs
c.112_113fs
1 paper
NM_003104.6
p.R38insFs
c.112_113ins2
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