Varaico: Literature-Extracted Genetic Variants

MVD

158 papers

RefSeq Summary

The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarbox...

Pfam Domains

MVD-like_Naa 14–183UCSCDiphosphomevalonate decarboxylase-like N-terminal domain

MDD_Caa 197–382UCSCMevalonate 5-diphosphate decarboxylase C-terminal domain

Gene Aliases

HGNC Name

mevalonate diphosphate decarboxylase

HGNC Alias Symbol

MPD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002461.3

p.S38T

c.112T>A

Surrounding Variants

2 papers

NM_002461.3

p.V41I

c.121G>A

1 paper

NM_002461.3

p.Q47_L48Splc

c.142-3C>A

1 paper

NM_002461.3

p.T52S

c.154A>T

1 paper

NM_002461.3

p.T61N

c.182C>A

1 paper

NM_002461.3

p.L67P

c.200T>C

1 paper

NM_002461.3

p.D73V

c.218A>T

1 paper

NM_002461.3

p.L79P

c.236T>C

1 paper

NM_002461.3

p.Q80*

c.238C>T

1 paper

NM_002461.3

p.A81D

c.242C>A

1 paper

NM_002461.3

p.R84W

c.250C>T

2 papers

NM_002461.3

p.I86Splc

c.257-2A>G

1 paper

NM_002461.3

p.C88S

c.262T>A