Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.C45S

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.C45S
c.134G>C
Surrounding Variants
1 paper
NM_003104.6
p.C45_G46insFs
c.135_136ins13
1 paper
NM_003104.6
p.C45S
c.133T>A
1 paper
NM_003104.6
p.G46delFs
c.136_137delGG
1 paper
NM_003104.6
p.I44_C45insFs
c.132_133insTT
1 paper
NM_003104.6
p.G46S
c.136G>A
10 papers
NM_003104.6
p.G46D
c.137G>A
1 paper
NM_003104.6
p.G46V
c.137G>T
1 paper
NM_003104.6
p.I44N
c.131T>A
1 paper
NM_003104.6
p.I44V
c.130A>G
1 paper
NM_003104.6
p.I44_S47del0
c.131_139del9
1 paper
NM_003104.6
p.S47insFs
c.140_141insG
3 papers
NM_003104.6
p.S47_D48insFs
c.141_142insG
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