Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.R126P

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.R126P
c.377G>C
Surrounding Variants
1 paper
NM_005926.3
p.R126L
c.377G>T
2 papers
NM_005926.3
p.R126H
c.377G>A
1 paper
NM_005926.3
p.R126C
c.376C>T
1 paper
NM_005926.3
p.R126R
c.378C>A
1 paper
NM_005926.3
p.A124_W125del2
c.370_374del6
2 papers
NM_005926.3
p.W125C
c.375G>T
3 papers
NM_005926.3
p.W125C
c.375G>C
2 papers
NM_005926.3
p.W125*
c.375G>A
1 paper
NM_005926.3
p.M127V
c.379A>G
1 paper
NM_005926.3
p.E128K
c.382G>A
2 papers
NM_005926.3
p.E128A
c.383A>C
1 paper
NM_005926.3
p.A124S
c.370G>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."