Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E224A

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.E224A
c.671A>C
Surrounding Variants
1 paper
NM_005926.3
p.E224V
c.671A>T
1 paper
NM_005926.3
p.E224G
c.671A>G
1 paper
NM_005926.3
p.E224fs
c.670_671fs
2 papers
NM_005926.3
p.E224Q
c.670G>C
1 paper
NM_005926.3
p.E224E
c.672G>A
1 paper
NM_005926.3
p.Q222_K223del2
c.664_668del6
1 paper
NM_005926.3
p.L225L
c.673C>T
2 papers
NM_005926.3
p.K223R
c.668A>G
1 paper
NM_005926.3
p.L225fs
c.673_674fs
1 paper
NM_005926.3
p.L225L
c.675G>A
1 paper
NM_005926.3
p.K223E
c.667A>G
1 paper
NM_005926.3
p.E226*
c.676G>T
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