Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L284insFs

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.L284insFs
c.850dupC
Surrounding Variants
2 papers
NM_003104.6
p.V282_P283ins4
c.844_848ins12
1 paper
NM_003104.6
p.P283P
c.849C>G
2 papers
NM_003104.6
p.T281T
c.843C>T
1 paper
NM_003104.6
p.L284fs
c.850_851fs
1 paper
NM_003104.6
p.T281A
c.841A>G
6 papers
NM_003104.6
p.L284P
c.851T>C
1 paper
NM_003104.6
p.L285_H286del2
c.853_857del6
1 paper
NM_003104.6
p.T280S
c.839C>G
1 paper
NM_003104.6
p.L285L
c.853C>T
1 paper
NM_003104.6
p.M279I
c.837G>A
1 paper
NM_003104.6
p.M279I
c.837G>C
1 paper
NM_003104.6
p.M279I
c.837G>T
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