Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.A2delins

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.A2delins
c.5delinsGAAA
Surrounding Variants
1 paper
NM_003104.6
p.A2E
c.5C>A
1 paper
NM_003104.6
p.A2Fs
c.5delinsAAAFs
1 paper
NM_003104.6
p.A3Fs
c.7delinsTGGGTAGGGFs
2 papers
NM_003104.6
p.A2V
c.5C>T
1 paper
NM_003104.6
p.A2delFs
c.6delG
1 paper
NM_003104.6
p.A2fs
c.4_5fs
3 papers
NM_003104.6
p.M1I
c.3G>A
1 paper
NM_003104.6
p.A3T
c.7G>A
2 papers
NM_003104.6
p.M1I
c.3G>C
1 paper
NM_003104.6
p.A3insFs
c.8dupC
1 paper
NM_003104.6
p.A3fs
c.7_8fs
3 papers
NM_003104.6
p.M1I
c.3G>T
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