Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.P2insFs

AMPD1

342 papers

RefSeq Summary

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 a...

Pfam Domains

AMP_deaminaseaa 113–745UCSCAMP deaminase

Gene Aliases

HGNC Name

adenosine monophosphate deaminase 1

HGNC Alias Symbol

MADA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000036.3
p.P2insFs
c.5_6ins4
Surrounding Variants
1 paper
NM_000036.3
p.L3V
c.7C>G
1 paper
NM_000036.3
p.P2insFs
c.6dupT
1 paper
NM_000036.3
p.P2delFs
c.6delA
1 paper
NM_000036.3
p.M1V
c.1A>G
1 paper
NM_000036.3
p.K5I
c.14A>T
1 paper
NM_000036.3
p.L6V
c.16C>G
1 paper
NM_000036.3
p.A8Splc
c.22+1G>T
1 paper
NM_000036.3
p.A8Splc
c.22+2T>C
1 paper
NM_000036.3
p.A8Splc
c.23-2A>G
132 papers
NM_000036.3
p.Q12*
c.34C>T
47 papers
NM_000036.3
p.Q12*
c.34C>T
1 paper
NM_000036.3
p.D14N
c.40G>A
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