Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.G260R

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
5 papers
NM_003104.6
p.G260R
c.778G>C
Surrounding Variants
3 papers
NM_003104.6
p.G260S
c.778G>A
1 paper
NM_003104.6
p.A259A
c.777G>A
1 paper
NM_003104.6
p.G260insFs
c.780dupC
1 paper
NM_003104.6
p.G260delFs
c.780delC
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.Q258P
c.773A>C
1 paper
NM_003104.6
p.A259delFs
c.775delG
1 paper
NM_003104.6
p.Q258_A259delFs
c.774_775delGG
1 paper
NM_003104.6
p.I261M
c.783C>G
1 paper
NM_003104.6
p.I261I
c.783C>T
1 paper
NM_003104.6
p.Q258*
c.772C>T
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