Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.G18A

MFAP1

2,220 papers

Pfam Domains

MFAP1aa 189–399UCSCMicrofibril-associated/Pre-mRNA processing

Gene Aliases

HGNC Name

microfibril associated protein 1

HGNC Alias Symbol

AMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005926.3
p.G18A
c.53G>C
Surrounding Variants
1 paper
NM_005926.3
p.G18E
c.53G>A
2 papers
NM_005926.3
p.G18R
c.52G>A
1 paper
NM_005926.3
p.G18G
c.54G>A
1 paper
NM_005926.3
p.A17insFs
c.50dupC
1 paper
NM_005926.3
p.A17V
c.50C>T
1 paper
NM_005926.3
p.A19G
c.56C>G
3 papers
NM_005926.3
p.A19D
c.56C>A
1 paper
NM_005926.3
p.A17D
c.50C>A
1 paper
NM_005926.3
p.T16delFs
c.48delC
2 papers
NM_005926.3
p.T16T
c.48G>A
1 paper
NM_005926.3
p.V20D
c.59T>A
1 paper
NM_005926.3
p.T16M
c.47C>T
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