Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L129insFs

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.L129insFs
c.386_387dupTC
Surrounding Variants
1 paper
NM_003104.6
p.N128S
c.383A>G
1 paper
NM_003104.6
p.L129V
c.385C>G
1 paper
NM_003104.6
p.L129delFs
c.386delT
1 paper
NM_003104.6
p.L129L
c.387C>A
1 paper
NM_003104.6
p.C130insFs
c.388dupT
1 paper
NM_003104.6
p.G127_N128ins1
c.381_382insAAA
1 paper
NM_003104.6
p.G127V
c.380G>T
3 papers
NM_003104.6
p.G127R
c.379G>A
1 paper
NM_003104.6
p.C130Y
c.389G>A
2 papers
NM_003104.6
p.G127R
c.379G>C
1 paper
NM_003104.6
p.G127insFs
c.379dupG
1 paper
NM_003104.6
p.R131_F139del9
c.391_416del27
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