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.D113delFs

c.337_338delTC

Surrounding Variants

1 paper

NM_000883.4

p.D113fs

c.337_338fs

1 paper

NM_000883.4

p.L115F

c.343C>T

1 paper

NM_000883.4

p.A112D

c.335C>A

1 paper

NM_000883.4

p.A112T

c.334G>A

1 paper

NM_000883.4

p.Q106_S111del6

c.316_332del18

1 paper

NM_000883.4

p.Q107*

c.319C>T

2 papers

NM_000883.4

p.Q106H

c.318G>T

1 paper

NM_000883.4

p.Q106H

c.318G>C

1 paper

NM_000883.4

p.A105T

c.313G>A

1 paper

NM_000883.4

p.G102W

c.304G>T

1 paper

NM_000883.4

p.V98G

c.293T>G

1 paper

NM_000883.4

p.V98M

c.292G>A