Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.L220delFs

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.L220delFs
c.658delA
Surrounding Variants
1 paper
NM_005926.3
p.L220delFs
c.660delC
1 paper
NM_005926.3
p.A219A
c.657A>T
1 paper
NM_005926.3
p.A219V
c.656C>T
1 paper
NM_005926.3
p.K221insFs
c.661dupA
1 paper
NM_005926.3
p.K221delFs
c.662_663delTT
2 papers
NM_005926.3
p.E218delFs
c.654delT
1 paper
NM_005926.3
p.Q222R
c.665A>G
1 paper
NM_005926.3
p.K223E
c.667A>G
2 papers
NM_005926.3
p.E218A
c.653A>C
1 paper
NM_005926.3
p.E218delFs
c.652delC
1 paper
NM_005926.3
p.E218K
c.652G>A
2 papers
NM_005926.3
p.K223R
c.668A>G
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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."