Varaico: Literature-Extracted Genetic Variants

Gene:IDI2
Variant:p.*228C

IDI2

25 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gen...

Pfam Domains

NUDIXaa 49–197UCSCNUDIX domain

Gene Aliases

HGNC Name

isopentenyl-diphosphate delta isomerase 2

HGNC Alias Symbol

IPPI2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033261.3
p.*228C
c.684A>C
Surrounding Variants
2 papers
NM_033261.3
p.*228C
c.684A>T
1 paper
NM_033261.3
p.H211R
c.632A>G
1 paper
NM_033261.3
p.L205M
c.613C>A
1 paper
NM_033261.3
p.F204L
c.612T>G
1 paper
NM_033261.3
p.F204L
c.612T>A
1 paper
NM_033261.3
p.F204L
c.610T>C
1 paper
NM_033261.3
p.S170fs
c.508_509fs
1 paper
NM_033261.3
p.S170delFs
c.508delT
1 paper
NM_033261.3
p.P163P
c.489G>A
1 paper
NM_033261.3
p.E148K
c.442G>A
9 papers
NM_033261.3
p.W144*
c.432G>A
9 papers
NM_033261.3
p.W144*
c.431G>A
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