Varaico: Literature-Extracted Genetic Variants

IMPDH1

249 papers

RefSeq Summary

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosp...

Pfam Domains

IMPDHaa 29–504UCSCIMP dehydrogenase / GMP reductase domain

CBSaa 108–166UCSCCBS domain

CBSaa 175–232UCSCCBS domain

Gene Aliases

HGNC Name

inosine monophosphate dehydrogenase 1

HGNC Previous Symbol

RP10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000883.4

p.V98G

c.293T>G

Surrounding Variants

1 paper

NM_000883.4

p.V98M

c.292G>A

1 paper

NM_000883.4

p.G96C

c.286G>T

1 paper

NM_000883.4

p.G102W

c.304G>T

1 paper

NM_000883.4

p.G93D

c.278G>A

1 paper

NM_000883.4

p.A105T

c.313G>A

2 papers

NM_000883.4

p.Q106H

c.318G>T

1 paper

NM_000883.4

p.Q106H

c.318G>C

1 paper

NM_000883.4

p.Q107*

c.319C>T

2 papers

NM_000883.4

p.D88G

c.263A>G

1 paper

NM_000883.4

p.D88N

c.262G>A

1 paper

NM_000883.4

p.M86I

c.258G>T

1 paper

NM_000883.4

p.M86I

c.258G>C