Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.I257S

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.I257S
c.770T>G
Surrounding Variants
1 paper
NM_003104.6
p.I257insFs
c.770dupT
1 paper
NM_003104.6
p.I257M
c.771C>G
1 paper
NM_003104.6
p.S256S
c.768C>G
1 paper
NM_003104.6
p.Q258*
c.772C>T
1 paper
NM_003104.6
p.Q258P
c.773A>C
1 paper
NM_003104.6
p.A259delFs
c.775delG
1 paper
NM_003104.6
p.Q258_A259delFs
c.774_775delGG
4 papers
NM_003104.6
p.S256F
c.767C>T
1 paper
NM_003104.6
p.S256_I257insTTT
c.766_770ins9
1 paper
NM_003104.6
p.A259G
c.776C>G
8 papers
NM_003104.6
p.A259V
c.776C>T
1 paper
NM_003104.6
p.A255T
c.763G>A
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