Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.N59T

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.N59T
c.176A>C
Surrounding Variants
1 paper
NM_003104.6
p.N59S
c.176A>G
1 paper
NM_003104.6
p.G58_N59delins
c.174_175delinsTT
1 paper
NM_003104.6
p.F60V
c.178T>G
1 paper
NM_003104.6
p.G58fs
c.172_173fs
1 paper
NM_003104.6
p.I61delFs
c.181delA
1 paper
NM_003104.6
p.I57I
c.171T>A
1 paper
NM_003104.6
p.G58delFs
c.173delG
1 paper
NM_003104.6
p.I57N
c.170T>A
1 paper
NM_003104.6
p.I57insFs
c.171dupT
1 paper
NM_003104.6
p.I61M
c.183T>G
1 paper
NM_003104.6
p.V62insFs
c.184_185insTC
1 paper
NM_003104.6
p.R56_I57delFs
c.168_169delAA
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