Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.A5ins1

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.A5ins1
c.14_15insTTC
Surrounding Variants
1 paper
NM_003104.6
p.A5T
c.13G>A
1 paper
NM_003104.6
p.A5P
c.13G>C
1 paper
NM_003104.6
p.A5insFs
c.14dupC
1 paper
NM_003104.6
p.A5insFs
c.13_14insTA
1 paper
NM_003104.6
p.A5S
c.13G>T
1 paper
NM_003104.6
p.A5ins1
c.14_15insCTT
1 paper
NM_003104.6
p.A5insFs
c.14_15insTG
1 paper
NM_003104.6
p.A4A
c.12G>A
1 paper
NM_003104.6
p.A5insFs
c.13_14insTG
1 paper
NM_003104.6
p.A5delFs
c.13_14delGC
1 paper
NM_003104.6
p.A4insFs
c.12dupG
1 paper
NM_003104.6
p.A4_A5insFs
c.12_13insTG
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