Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.K64delFs

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
2 papers
NM_003104.6
p.K64delFs
c.191_192delAG
Surrounding Variants
3 papers
NM_003104.6
p.K63K
c.189A>G
1 paper
NM_003104.6
p.K63R
c.188A>G
1 paper
NM_003104.6
p.K63I
c.188A>T
1 paper
NM_003104.6
p.K63_M66delFs
c.188_198del11
1 paper
NM_003104.6
p.P65_M66ins4
c.193_197ins12
1 paper
NM_003104.6
p.P65S
c.193C>T
1 paper
NM_003104.6
p.K64insFs
c.191dupA
1 paper
NM_003104.6
p.K64delFs
c.190delA
1 paper
NM_003104.6
p.V62insFs
c.184_185insTC
1 paper
NM_003104.6
p.I61M
c.183T>G
1 paper
NM_003104.6
p.I61delFs
c.181delA
2 papers
NM_003104.6
p.L68insFs
c.202dupC
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