Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.S30*

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.S30*
c.89C>A
Surrounding Variants
1 paper
NM_005926.3
p.S30L
c.89C>T
1 paper
NM_005926.3
p.S30A
c.88T>G
1 paper
NM_005926.3
p.S30P
c.88T>C
1 paper
NM_005926.3
p.I29I
c.87T>A
1 paper
NM_005926.3
p.M31V
c.91A>G
1 paper
NM_005926.3
p.I29insFs
c.85_86ins4
1 paper
NM_005926.3
p.I29N
c.86T>A
3 papers
NM_005926.3
p.M31I
c.93G>A
1 paper
NM_005926.3
p.E28insFs
c.83_84insA
2 papers
NM_005926.3
p.E32G
c.95A>G
1 paper
NM_005926.3
p.E28G
c.83A>G
1 paper
NM_005926.3
p.E32A
c.95A>C
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