Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.R38fs

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.R38fs
c.112_113fs
Surrounding Variants
1 paper
NM_003104.6
p.R38insFs
c.112_113ins2
1 paper
NM_003104.6
p.R38fs
c.112_113fs
1 paper
NM_003104.6
p.R38K
c.113G>A
1 paper
NM_003104.6
p.R38T
c.113G>C
1 paper
NM_003104.6
p.R38delFs
c.112delA
1 paper
NM_003104.6
p.L37Q
c.110T>A
1 paper
NM_003104.6
p.L37_R38insFs
c.111_112dupGA
1 paper
NM_003104.6
p.M39delFs
c.116delT
1 paper
NM_003104.6
p.M39delFs
c.117delG
1 paper
NM_003104.6
p.H40_V42delFs
c.119_125del7
2 papers
NM_003104.6
p.H40P
c.119A>C
1 paper
NM_003104.6
p.H40_G43delFs
c.120_127del8
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