Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1

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
1–12 of 1090 variants
11 papers
NM_005926.3
p.M1V
c.1A>G
10 papers
NM_005926.3
p.S15S
c.45T>G
10 papers
NM_005926.3
p.Q227L
c.680A>T
9 papers
NM_005926.3
p.E70*
c.208G>T
8 papers
NM_005926.3
p.N370S
c.1109A>G
6 papers
NM_005926.3
p.M1I
c.3G>A
5 papers
NM_005926.3
p.N24S
c.71A>G
5 papers
NM_005926.3
p.E68K
c.202G>A
5 papers
NM_005926.3
p.D141N
c.421G>A
5 papers
NM_005926.3
p.Q227R
c.680A>G
4 papers
NM_005926.3
p.M1insFs
c.2dupT
4 papers
NM_005926.3
p.H104R
c.311A>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."