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.M220K

c.659T>A

Surrounding Variants

1 paper

NM_000883.4

p.R221Q

c.662G>A

1 paper

NM_000883.4

p.L216R

c.647T>G

1 paper

NM_000883.4

p.L216L

c.646C>T

1 paper

NM_000883.4

p.S225S

c.675T>C

6 papers

NM_000883.4

p.G226S

c.676G>A

4 papers

NM_000883.4

p.S209L

c.626C>T

1 paper

NM_000883.4

p.T232M

c.695C>T

1 paper

NM_000883.4

p.T232T

c.696G>A

1 paper

NM_000883.4

p.L206fs

c.616_617fs

1 paper

NM_000883.4

p.V205del1

c.613_614delCAC

12 papers

NM_000883.4

p.K238E

c.712A>G

7 papers

NM_000883.4

p.K238R

c.713A>G