Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.T280S

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.T280S
c.839C>G
Surrounding Variants
1 paper
NM_003104.6
p.T281A
c.841A>G
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
1 paper
NM_003104.6
p.M279T
c.836T>C
1 paper
NM_003104.6
p.M279V
c.835A>G
2 papers
NM_003104.6
p.T281T
c.843C>T
2 papers
NM_003104.6
p.V282_P283ins4
c.844_848ins12
2 papers
NM_003104.6
p.L284insFs
c.850dupC
1 paper
NM_003104.6
p.E278K
c.832G>A
1 paper
NM_003104.6
p.S277Y
c.830C>A
1 paper
NM_003104.6
p.S277F
c.830C>T
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