Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.R209*

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.R209*
c.625C>T
Surrounding Variants
2 papers
NM_005926.3
p.D208A
c.623A>C
1 paper
NM_005926.3
p.V210M
c.628G>A
1 paper
NM_005926.3
p.K207N
c.621G>C
1 paper
NM_005926.3
p.V210delFs
c.629delA
2 papers
NM_005926.3
p.K207R
c.620A>G
1 paper
NM_005926.3
p.K207E
c.619A>G
1 paper
NM_005926.3
p.K207Q
c.619A>C
1 paper
NM_005926.3
p.V212L
c.634G>C
1 paper
NM_005926.3
p.K206Splc
c.618-2A>G
1 paper
NM_005926.3
p.K206Q
c.616A>C
1 paper
NM_005926.3
p.Q213*
c.637C>T
1 paper
NM_005926.3
p.Q213L
c.638A>T
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