Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.M50L

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
2 papers
NM_005926.3
p.M50L
c.148A>T
Surrounding Variants
1 paper
NM_005926.3
p.M50T
c.149T>C
1 paper
NM_005926.3
p.M50K
c.149T>A
1 paper
NM_005926.3
p.E51K
c.151G>A
1 paper
NM_005926.3
p.A48delFs
c.142_143delGC
1 paper
NM_005926.3
p.E51V
c.152A>T
1 paper
NM_005926.3
p.E51D
c.153G>T
1 paper
NM_005926.3
p.E51D
c.153G>C
1 paper
NM_005926.3
p.A48V
c.143C>T
1 paper
NM_005926.3
p.A48D
c.143C>A
2 papers
NM_005926.3
p.S52A
c.154T>G
1 paper
NM_005926.3
p.Y47*
c.141T>A
1 paper
NM_005926.3
p.S52F
c.155C>T
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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."