Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.V236I

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.V236I
c.706G>A
Surrounding Variants
2 papers
NM_003104.6
p.K235R
c.704A>G
2 papers
NM_003104.6
p.E237K
c.709G>A
1 paper
NM_003104.6
p.E237A
c.710A>C
2 papers
NM_003104.6
p.G238delFs
c.713delG
1 paper
NM_003104.6
p.G238C
c.712G>T
1 paper
NM_003104.6
p.R234_K243del10
c.700_728del30
2 papers
NM_003104.6
p.G238V
c.713G>T
1 paper
NM_003104.6
p.A233V
c.698C>T
2 papers
NM_003104.6
p.Q239*
c.715C>T
1 paper
NM_003104.6
p.Q239delFs
c.716delA
1 paper
NM_003104.6
p.A233T
c.697G>A
1 paper
NM_003104.6
p.Q239insFs
c.717dupG
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