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.K323M

c.968A>T

Surrounding Variants

13 papers

NM_000883.4

p.K323R

c.968A>G

4 papers

NM_000883.4

p.K323E

c.967A>G

NM_001142573.2

p.K238E

c.712A>G

1 paper

NM_000883.4

p.S322T

c.964T>A

6 papers

NM_000883.4

p.A321V

c.962C>T

1 paper

NM_000883.4

p.L320P

c.959T>C

1 paper

NM_000883.4

p.Q326P

c.977A>C

2 papers

NM_000883.4

p.Q326H

c.978G>T

2 papers

NM_000883.4

p.Q326H

c.978G>C

1 paper

NM_000883.4

p.Q328L

c.983A>T

2 papers

NM_000883.4

p.Q328H

c.984G>T

2 papers

NM_000883.4

p.Q328H

c.984G>C

1 paper

NM_000883.4

p.L329L

c.987G>C