Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.C140delFs

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.C140delFs
c.418delT
Surrounding Variants
1 paper
NM_003104.6
p.A138V
c.413C>T
2 papers
NM_003104.6
p.A138T
c.412G>A
1 paper
NM_003104.6
p.A138S
c.412G>T
11 papers
NM_003104.6
p.F139S
c.416T>C
1 paper
NM_003104.6
p.F139C
c.416T>G
1 paper
NM_003104.6
p.A138insFs
c.412dupG
1 paper
NM_003104.6
p.A137delFs
c.411delA
2 papers
NM_003104.6
p.C140S
c.418T>A
1 paper
NM_003104.6
p.C140_Y141insG
c.418_422ins3
1 paper
NM_003104.6
p.C140fs
c.418_419fs
2 papers
NM_003104.6
p.C140S
c.419G>C
1 paper
NM_003104.6
p.N136K
c.408T>A
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