Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.V13V

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.V13V
c.39G>C
Surrounding Variants
2 papers
NM_003104.6
p.V13V
c.39G>T
1 paper
NM_003104.6
p.V14M
c.40G>A
1 paper
NM_003104.6
p.V14E
c.41T>A
1 paper
NM_003104.6
p.H15insFs
c.44_45dupAC
1 paper
NM_003104.6
p.L12_V13ins2
c.36_37ins6
2 papers
NM_003104.6
p.H15Y
c.43C>T
1 paper
NM_003104.6
p.L12R
c.35T>G
2 papers
NM_003104.6
p.L12_V13delFs
c.36_37delGG
1 paper
NM_003104.6
p.L12insFs
c.35dupT
1 paper
NM_003104.6
p.L12L
c.34C>T
1 paper
NM_003104.6
p.L12delFs
c.35delT
1 paper
NM_003104.6
p.V13_V14del2
c.37_41del6
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