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

2 papers

NM_000883.4

p.A168_L169Splc

c.504+67G>A

Surrounding Variants

2 papers

NM_000883.4

p.A168_L169Splc

c.504+90C>T

1 paper

NM_000883.4

p.L169L

c.507G>A

1 paper

NM_000883.4

p.A168T

c.502G>A

1 paper

NM_000883.4

p.A166_M167delFs

c.498_499delTG

1 paper

NM_000883.4

p.I165N

c.494T>A

2 papers

NM_000883.4

p.I176T

c.527T>C

1 paper

NM_000883.4

p.A164V

c.491C>T

1 paper

NM_000883.4

p.M163fs

c.487_488fs

1 paper

NM_000883.4

p.M163insFs

c.487_488insG

1 paper

NM_000883.4

p.A161V

c.482C>T

1 paper

NM_000883.4

p.T159I

c.476C>T

1 paper

NM_000883.4

p.T159_E160insTAA

c.475_479ins9