Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L210fs

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.L210fs
c.628_629fs
Surrounding Variants
7 papers
NM_003104.6
p.R209*
c.625C>T
1 paper
NM_003104.6
p.K212delFs
c.635_636delAA
1 paper
NM_003104.6
p.K212T
c.635A>C
1 paper
NM_003104.6
p.A207V
c.620C>T
1 paper
NM_003104.6
p.A213delFs
c.639delC
2 papers
NM_003104.6
p.A207delFs
c.620_621delCT
1 paper
NM_003104.6
p.A213D
c.638C>A
1 paper
NM_003104.6
p.A213insFs
c.638_639insA
2 papers
NM_003104.6
p.A213V
c.638C>T
1 paper
NM_003104.6
p.A207Fs
c.619_620delinsCFs
1 paper
NM_003104.6
p.K214delFs
c.641delA
2 papers
NM_003104.6
p.K214E
c.640A>G
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