Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.N8insFs

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.N8insFs
c.22_23insC
Surrounding Variants
1 paper
NM_003104.6
p.N9_L10insFs
c.27_28ins5
1 paper
NM_003104.6
p.N8insFs
c.23dupA
1 paper
NM_003104.6
p.P7_N8Fs
c.20_22delinsCFs
1 paper
NM_003104.6
p.N9_S11insFs
c.26_33dup8
1 paper
NM_003104.6
p.P7A
c.19C>G
1 paper
NM_003104.6
p.P7S
c.19C>T
1 paper
NM_003104.6
p.L10delFs
c.28delC
1 paper
NM_003104.6
p.P7Fs
c.20delinsCCFs
2 papers
NM_003104.6
p.P7delFs
c.21delC
1 paper
NM_003104.6
p.P7_L12delFs
c.19_35del17
1 paper
NM_003104.6
p.K6R
c.17A>G
1 paper
NM_003104.6
p.K6_P7delFs
c.18_21del4
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