Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.E53K

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
2 papers
NM_003104.6
p.E53K
c.157G>A
Surrounding Variants
1 paper
NM_003104.6
p.E53Q
c.157G>C
1 paper
NM_003104.6
p.E53D
c.159G>C
1 paper
NM_003104.6
p.W52R
c.154T>A
1 paper
NM_003104.6
p.Y54D
c.160T>G
1 paper
NM_003104.6
p.Y54F
c.161A>T
1 paper
NM_003104.6
p.W52delFs
c.154delT
1 paper
NM_003104.6
p.W52delFs
c.154_155delTG
1 paper
NM_003104.6
p.H50Q
c.150C>A
1 paper
NM_003104.6
p.H50H
c.150C>T
1 paper
NM_003104.6
p.G55A
c.164G>C
2 papers
NM_003104.6
p.R56_I57delFs
c.166_170del5
5 papers
NM_003104.6
p.H50R
c.149A>G
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