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

1–12 of 292 variants

16 papers

NM_000883.4

p.D311N

c.931G>A

13 papers

NM_000883.4

p.K323R

c.968A>G

12 papers

NM_000883.4

p.K238E

c.712A>G

8 papers

NM_000883.4

p.V134_D135Splc

c.402+57G>A

8 papers

NM_000883.4

p.K314N

c.942G>C

7 papers

NM_000883.4

p.K238R

c.713A>G

7 papers

NM_000883.4

p.K314N

c.942G>T

7 papers

NM_000883.4

p.K314_N315del1

c.942_944delTTC

6 papers

NM_000883.4

p.G226S

c.676G>A

6 papers

NM_000883.4

p.A321V

c.962C>T

5 papers

NM_000883.4

p.R190W

c.568C>T

5 papers

NM_000883.4

p.V353I

c.1057G>A