Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L113insFs

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
4 papers
NM_003104.6
p.L113insFs
c.337_338insT
Surrounding Variants
1 paper
NM_003104.6
p.N112insFs
c.336dupT
2 papers
NM_003104.6
p.L113_S114delFs
c.337_340del4
1 paper
NM_003104.6
p.S114delFs
c.341_342delCA
1 paper
NM_003104.6
p.Y111F
c.332A>T
1 paper
NM_003104.6
p.N112_L113delFs
c.334_337del4
1 paper
NM_003104.6
p.P115A
c.343C>G
6 papers
NM_003104.6
p.P115S
c.343C>T
1 paper
NM_003104.6
p.R110_Y111ins9
c.330_331ins27
1 paper
NM_003104.6
p.P115L
c.344C>T
10 papers
NM_003104.6
p.R110P
c.329G>C
1 paper
NM_003104.6
p.R110_Y111insFs
c.330_333dup4
2 papers
NM_003104.6
p.R110_Y111delFs
c.330_331delAT
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