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

4 papers

NM_000883.4

p.K193_K194Splc

c.579+119G>A

Surrounding Variants

1 paper

NM_000883.4

p.K193_K194Splc

c.580-106G>A

1 paper

NM_000883.4

p.K193_K194Splc

c.579+10A>G

1 paper

NM_000883.4

p.K191N

c.573G>T

1 paper

NM_000883.4

p.K191N

c.573G>C

2 papers

NM_000883.4

p.R190L

c.569G>T

5 papers

NM_000883.4

p.R190W

c.568C>T

1 paper

NM_000883.4

p.K194N

c.582G>T

1 paper

NM_000883.4

p.K194N

c.582G>C

2 papers

NM_000883.4

p.F195L

c.583T>C

2 papers

NM_000883.4

p.F195L

c.585T>G

2 papers

NM_000883.4

p.F195L

c.585T>A

2 papers

NM_000883.4

p.Q197P

c.590A>C