Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.L10fs

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.L10fs
c.28_29fs
Surrounding Variants
7 papers
NM_003104.6
p.L10F
c.28C>T
1 paper
NM_003104.6
p.L10_S11Fs
c.28_33delinsTAGGAGGCCCCTAFs
2 papers
NM_003104.6
p.L10P
c.29T>C
1 paper
NM_003104.6
p.L10delFs
c.28delC
1 paper
NM_003104.6
p.N9_S11insFs
c.26_33dup8
1 paper
NM_003104.6
p.N9_L10insFs
c.27_28ins5
3 papers
NM_003104.6
p.S11S
c.33C>A
1 paper
NM_003104.6
p.N8insFs
c.22_23insC
1 paper
NM_003104.6
p.L12insFs
c.35dupT
1 paper
NM_003104.6
p.L12L
c.34C>T
1 paper
NM_003104.6
p.L12delFs
c.35delT
1 paper
NM_003104.6
p.V13_V14del2
c.37_41del6
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