Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.A229V

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.A229V
c.686C>T
Surrounding Variants
1 paper
NM_005926.3
p.A229E
c.686C>A
1 paper
NM_005926.3
p.A229P
c.685G>C
1 paper
NM_005926.3
p.A229T
c.685G>A
2 papers
NM_005926.3
p.K230E
c.688A>G
1 paper
NM_005926.3
p.E228_A229insFs
c.684_685insG
1 paper
NM_005926.3
p.E228_A229del2
c.682_686del6
1 paper
NM_005926.3
p.K230R
c.689A>G
1 paper
NM_005926.3
p.K230T
c.689A>C
1 paper
NM_005926.3
p.E228insFs
c.683_684insG
1 paper
NM_005926.3
p.E226_Q227delFs
c.678_681del4
1 paper
NM_005926.3
p.E228Q
c.682G>C
1 paper
NM_005926.3
p.E228K
c.682G>A
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