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.N315K

c.945C>G

Surrounding Variants

1 paper

NM_000883.4

p.N315K

c.945C>A

7 papers

NM_000883.4

p.K314_N315del1

c.942_944delTTC

1 paper

NM_000883.4

p.R316*

c.946C>T

2 papers

NM_001142574.2

p.N225T

c.674A>C

NM_000883.4

p.N315T

c.944A>C

1 paper

NM_000883.4

p.R316P

c.947G>C

3 papers

NM_000883.4

p.K314_N315insFs

c.942_943insG

7 papers

NM_000883.4

p.K314N

c.942G>T

8 papers

NM_000883.4

p.K314N

c.942G>C

2 papers

NM_000883.4

p.K314E

c.940A>G

2 papers

NM_000883.4

p.K314Q

c.940A>C

1 paper

NM_000883.4

p.K313*

c.937A>T

1 paper

NM_000883.4

p.L312P

c.935T>C