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.P124delFs

c.371_372delTG

Surrounding Variants

1 paper

NM_000883.4

p.P124L

c.371C>T

1 paper

NM_000883.4

p.P124ins1

c.370_371insGTG

1 paper

NM_000883.4

p.L121L

c.361C>T

1 paper

NM_000883.4

p.I130T

c.389T>C

1 paper

NM_000883.4

p.D128_A131delFs

c.383_392del10

1 paper

NM_000883.4

p.N118Splc

c.354-8C>T

3 papers

NM_000883.4

p.V134_D135Splc

c.402+1G>T

8 papers

NM_000883.4

p.V134_D135Splc

c.402+57G>A

1 paper

NM_000883.4

p.N118Splc

c.353+57G>A

1 paper

NM_000883.4

p.L115F

c.343C>T

1 paper

NM_000883.4

p.D113delFs

c.337_338delTC

1 paper

NM_000883.4

p.D113fs

c.337_338fs