Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.F149Fs

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.F149Fs
c.445_447delinsGGTATCTFs
Surrounding Variants
1 paper
NM_003104.6
p.F149Fs
c.445_446delinsGGTATCTFs
1 paper
NM_003104.6
p.F149insFs
c.445_446ins5
1 paper
NM_003104.6
p.F149_E150delins
c.446_449delinsA
2 papers
NM_003104.6
p.F149_E150insFs
c.445_448dup4
1 paper
NM_003104.6
p.F149Y
c.446T>A
2 papers
NM_003104.6
p.E150del1
c.448_450delGAG
1 paper
NM_003104.6
p.T148delFs
c.443delC
1 paper
NM_003104.6
p.E150K
c.448G>A
1 paper
NM_003104.6
p.E150delFs
c.449delA
1 paper
NM_003104.6
p.T148delFs
c.442delA
1 paper
NM_003104.6
p.V147delFs
c.441delC
1 paper
NM_003104.6
p.E151K
c.451G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."