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.V205del1

c.613_614delCAC

Surrounding Variants

1 paper

NM_000883.4

p.L206fs

c.616_617fs

4 papers

NM_000883.4

p.S209L

c.626C>T

1 paper

NM_000883.4

p.T201M

c.602C>T

1 paper

NM_000883.4

p.F199del1

c.595_596delGAA

1 paper

NM_000883.4

p.Q197_F199delFs

c.591_597del7

1 paper

NM_000883.4

p.F199V

c.595T>G

3 papers

NM_000883.4

p.G198C

c.592G>T

2 papers

NM_000883.4

p.Q197P

c.590A>C

1 paper

NM_000883.4

p.L216L

c.646C>T

2 papers

NM_000883.4

p.F195L

c.585T>G

1 paper

NM_000883.4

p.L216R

c.647T>G

2 papers

NM_000883.4

p.F195L

c.585T>A