Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.K142Splc

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.K142Splc
c.426-1G>A
Surrounding Variants
2 papers
NM_003104.6
p.L143F
c.427C>T
2 papers
NM_003104.6
p.P144L
c.431C>T
1 paper
NM_003104.6
p.D145_N146del0
c.433_438del6
1 paper
NM_003104.6
p.P144P
c.432T>A
1 paper
NM_003104.6
p.P144P
c.432T>G
1 paper
NM_003104.6
p.D145N
c.433G>A
1 paper
NM_003104.6
p.D145delFs
c.435delC
1 paper
NM_003104.6
p.N146K
c.438T>A
1 paper
NM_003104.6
p.V147_T148insA
c.439_443ins3
1 paper
NM_003104.6
p.V147delFs
c.441delC
1 paper
NM_003104.6
p.T148delFs
c.442delA
1 paper
NM_003104.6
p.T148delFs
c.443delC
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