Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.S266P

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.S266P
c.796T>C
Surrounding Variants
1 paper
NM_003104.6
p.T264N
c.791C>A
1 paper
NM_003104.6
p.T264_V273del10
c.790_818del30
1 paper
NM_003104.6
p.A263G
c.788C>G
1 paper
NM_003104.6
p.N269D
c.805A>G
1 paper
NM_003104.6
p.N269fs
c.805_806fs
5 papers
NM_003104.6
p.N269T
c.806A>C
1 paper
NM_003104.6
p.N269N
c.807C>T
1 paper
NM_003104.6
p.L270insFs
c.808_809insCA
1 paper
NM_003104.6
p.L270P
c.809T>C
1 paper
NM_003104.6
p.V271_V282del12
c.811_845del36
1 paper
NM_003104.6
p.V271L
c.811G>T
1 paper
NM_003104.6
p.L272_M279del0
c.816_836del21
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