Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L222V

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.L222V
c.664C>G
Surrounding Variants
1 paper
NM_003104.6
p.L222F
c.664C>T
1 paper
NM_003104.6
p.Q223delFs
c.667delC
1 paper
NM_003104.6
p.L222_K226delFs
c.666_678del13
1 paper
NM_003104.6
p.V221I
c.661G>A
1 paper
NM_003104.6
p.V221delFs
c.661delG
1 paper
NM_003104.6
p.L220S
c.659T>C
1 paper
NM_003104.6
p.L220insFs
c.660dupA
1 paper
NM_003104.6
p.I224F
c.670A>T
1 paper
NM_003104.6
p.D219G
c.656A>G
2 papers
NM_003104.6
p.S225F
c.674C>T
1 paper
NM_003104.6
p.S225S
c.675C>G
1 paper
NM_003104.6
p.A218V
c.653C>T
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