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.D301N

c.901G>A

Surrounding Variants

1 paper

NM_000883.4

p.V304M

c.910G>A

1 paper

NM_000883.4

p.K293_V304delFs

c.877_910del34

1 paper

NM_000883.4

p.I296T

c.887T>C

1 paper

NM_000883.4

p.A305A

c.915C>G

1 paper

NM_000883.4

p.P295delFs

c.885delA

1 paper

NM_000883.4

p.A305delFs

c.915delG

1 paper

NM_000883.4

p.I307I

c.921C>T

1 paper

NM_000883.4

p.R309G

c.925C>G

1 paper

NM_000883.4

p.G292G

c.876G>T

3 papers

NM_000883.4

p.R309P

c.926G>C

1 paper

NM_000883.4

p.G292V

c.875G>T

1 paper

NM_000883.4

p.G292Splc

c.875-2A>G