Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.C120_A121del2

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.C120_A121del2
c.358_362del6
Surrounding Variants
2 papers
NM_003104.6
p.F119S
c.356T>C
2 papers
NM_003104.6
p.F119L
c.357C>A
2 papers
NM_003104.6
p.F119L
c.357C>G
1 paper
NM_003104.6
p.C120_G127del8
c.358_380del24
2 papers
NM_003104.6
p.F119L
c.355T>C
1 paper
NM_003104.6
p.F119_D125del7
c.355_374del21
1 paper
NM_003104.6
p.C120S
c.358T>A
1 paper
NM_003104.6
p.C120_A121insC
c.358_362ins3
1 paper
NM_003104.6
p.C120S
c.359G>C
1 paper
NM_003104.6
p.F118S
c.353T>C
1 paper
NM_003104.6
p.F118_F119delFs
c.354_355delCT
1 paper
NM_003104.6
p.F118delFs
c.352delT
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