Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.P229insFs

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.P229insFs
c.687dupT
Surrounding Variants
1 paper
NM_003104.6
p.P229insFs
c.685_686ins13
2 papers
NM_003104.6
p.P229insFs
c.685_686ins13
3 papers
NM_003104.6
p.P229_C242delFs
c.686_725del40
1 paper
NM_003104.6
p.Q230delFs
c.688delC
1 paper
NM_003104.6
p.Q230E
c.688C>G
3 papers
NM_003104.6
p.Q230*
c.688C>T
1 paper
NM_003104.6
p.S228delFs
c.683_684delGC
1 paper
NM_003104.6
p.E227K
c.679G>A
1 paper
NM_003104.6
p.I232fs
c.694_695fs
1 paper
NM_003104.6
p.K226K
c.678G>A
1 paper
NM_003104.6
p.K226*
c.676A>T
1 paper
NM_003104.6
p.I232I
c.696C>T
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