Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.M1_N8delFs

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.M1_N8delFs
c.3_22del20
Surrounding Variants
2 papers
NM_003104.6
p.M1K
c.2T>A
5 papers
NM_003104.6
p.M1T
c.2T>C
3 papers
NM_003104.6
p.M1R
c.2T>G
1 paper
NM_003104.6
p.M1insFs
c.3dupG
1 paper
NM_003104.6
p.M1fs
c.1_2fs
2 papers
NM_003104.6
p.M1insFs
c.2dupT
2 papers
NM_003104.6
p.M1L
c.1A>C
5 papers
NM_003104.6
p.M1V
c.1A>G
4 papers
NM_003104.6
p.M1L
c.1A>T
3 papers
NM_003104.6
p.M1I
c.3G>A
2 papers
NM_003104.6
p.M1I
c.3G>C
3 papers
NM_003104.6
p.M1I
c.3G>T
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