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.A249S

c.745G>T

Surrounding Variants

3 papers

NM_000884.3

p.L245P

c.734T>C

6 papers

NM_000884.3

p.Q243H

c.729G>T

6 papers

NM_000884.3

p.Q243H

c.729G>C

4 papers

NM_000884.3

p.K238R

c.713A>G

1 paper

NM_000884.3

p.K238E

c.712A>G

11 papers

NM_000884.3

p.L263F

c.787C>T

1 paper

NM_000884.3

p.A264S

c.790G>T

4 papers

NM_000884.3

p.R231P

c.692G>C

1 paper

NM_000884.3

p.L227P

c.680T>C

12 papers

NM_000884.3

p.D226N

c.676G>A

7 papers

NM_000884.3

p.R224P

c.671G>C

10 papers

NM_000884.3

p.L273_D274Splc

c.819+10T>C