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.F250V

c.748T>G

Surrounding Variants

1 paper

NM_000883.4

p.A252S

c.754G>T

1 paper

NM_000883.4

p.T244A

c.730A>G

2 papers

NM_000883.4

p.T244P

c.730A>C

2 papers

NM_000883.4

p.V243I

c.727G>A

2 papers

NM_000883.4

p.T257A

c.769A>G

1 paper

NM_000883.4

p.L260P

c.779T>C

7 papers

NM_000883.4

p.K238R

c.713A>G

1 paper

NM_000883.4

p.E262K

c.784G>A

12 papers

NM_000883.4

p.K238E

c.712A>G

1 paper

NM_000883.4

p.E262_V263Splc

c.786+1G>T

1 paper

NM_000883.4

p.E262_V263Splc

c.786+4C>G

1 paper

NM_000883.4

p.T232T

c.696G>A