Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.A121V

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.A121V
c.362C>T
Surrounding Variants
1 paper
NM_003104.6
p.A121T
c.361G>A
1 paper
NM_003104.6
p.A121P
c.361G>C
1 paper
NM_003104.6
p.T122fs
c.364_365fs
1 paper
NM_003104.6
p.T122S
c.364A>T
2 papers
NM_003104.6
p.T122delFs
c.366delG
1 paper
NM_003104.6
p.C120S
c.359G>C
1 paper
NM_003104.6
p.P123insFs
c.367dupC
2 papers
NM_003104.6
p.P124delFs
c.370delC
1 paper
NM_003104.6
p.C120S
c.358T>A
1 paper
NM_003104.6
p.C120_A121insC
c.358_362ins3
2 papers
NM_003104.6
p.F119L
c.357C>A
2 papers
NM_003104.6
p.F119L
c.357C>G
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