Varaico: Literature-Extracted Genetic Variants

IMPDH2

104 papers

RefSeq Summary

This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA sy...

Pfam Domains

IMPDHaa 29–321UCSCIMP dehydrogenase / GMP reductase domain

CBSaa 89–141UCSCCBS domain

CBSaa 107–166UCSCCBS domain

CBSaa 150–207UCSCCBS domain

IMPDHaa 326–503UCSCIMP dehydrogenase / GMP reductase domain

Gene Aliases

HGNC Name

inosine monophosphate dehydrogenase 2

HGNC Previous Name

IMP (inosine 5'-monophosphate) dehydrogenase 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000884.3

p.D172E

c.516C>A

Surrounding Variants

1 paper

NM_000884.3

p.D172E

c.516C>G

1 paper

NM_000884.3

p.E168D

c.504G>C

10 papers

NM_000884.3

p.S160del1

c.478_479delGGA

1 paper

NM_000884.3

p.I157I

c.471C>T

1 paper

NM_000884.3

p.R153C

c.457C>T

2 papers

NM_000884.3

p.F139F

c.417C>T

1 paper

NM_000884.3

p.R136W

c.406C>T

1 paper

NM_000884.3

p.R128Q

c.383G>A

8 papers

NM_000884.3

p.G113E

c.338G>A

4 papers

NM_000884.3

p.G113R

c.337G>C

4 papers

NM_000884.3

p.G113R

c.337G>A

1 paper

NM_000884.3

p.K108_K109Splc

c.325-62G>A