Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.Q227L

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
10 papers
NM_005926.3
p.Q227L
c.680A>T
Surrounding Variants
5 papers
NM_005926.3
p.Q227R
c.680A>G
1 paper
NM_005926.3
p.Q227*
c.679C>T
1 paper
NM_005926.3
p.Q227K
c.679C>A
1 paper
NM_005926.3
p.E228Q
c.682G>C
1 paper
NM_005926.3
p.E228K
c.682G>A
1 paper
NM_005926.3
p.E226A
c.677A>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.E226*
c.676G>T
1 paper
NM_005926.3
p.E226K
c.676G>A
1 paper
NM_005926.3
p.E228_A229insFs
c.684_685insG
1 paper
NM_005926.3
p.L225fs
c.673_674fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."