Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.V42delFs

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.V42delFs
c.126delT
Surrounding Variants
1 paper
NM_003104.6
p.G43R
c.127G>A
2 papers
NM_003104.6
p.G43R
c.127G>C
2 papers
NM_003104.6
p.S41insFs
c.122dupC
4 papers
NM_003104.6
p.H40_S41insFs
c.120_121insC
2 papers
NM_003104.6
p.H40P
c.119A>C
1 paper
NM_003104.6
p.H40_G43delFs
c.120_127del8
1 paper
NM_003104.6
p.I44V
c.130A>G
1 paper
NM_003104.6
p.I44_S47del0
c.131_139del9
1 paper
NM_003104.6
p.H40_V42delFs
c.119_125del7
1 paper
NM_003104.6
p.I44N
c.131T>A
1 paper
NM_003104.6
p.I44_C45insFs
c.132_133insTT
1 paper
NM_003104.6
p.M39delFs
c.117delG
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