Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.C242Y

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
14 papers
NM_003104.6
p.C242Y
c.725G>A
Surrounding Variants
1 paper
NM_003104.6
p.C242_V246del0
c.725_736del12
1 paper
NM_003104.6
p.C242_E245del0
c.724_735del12
1 paper
NM_003104.6
p.G241R
c.721G>A
1 paper
NM_003104.6
p.G241_C242delFs
c.722_726del5
1 paper
NM_003104.6
p.P244S
c.730C>T
6 papers
NM_003104.6
p.P244L
c.731C>T
1 paper
NM_003104.6
p.L240P
c.719T>C
1 paper
NM_003104.6
p.L240_G241del1
c.720_722delGGG
1 paper
NM_003104.6
p.L240fs
c.718_719fs
1 paper
NM_003104.6
p.L240fs
c.718_719fs
2 papers
NM_003104.6
p.L240delFs
c.718_719delCT
1 paper
NM_003104.6
p.Q239insFs
c.717dupG
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