Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.R129P

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.R129P
c.386G>C
Surrounding Variants
1 paper
NM_005926.3
p.R129_E130insFs
c.387_388insA
2 papers
NM_005926.3
p.E130K
c.388G>A
2 papers
NM_005926.3
p.E128A
c.383A>C
1 paper
NM_005926.3
p.E130A
c.389A>C
1 paper
NM_005926.3
p.E128K
c.382G>A
2 papers
NM_005926.3
p.D131N
c.391G>A
2 papers
NM_005926.3
p.D131G
c.392A>G
1 paper
NM_005926.3
p.D131A
c.392A>C
1 paper
NM_005926.3
p.D131insFs
c.392_393insA
1 paper
NM_005926.3
p.D131delFs
c.392delT
1 paper
NM_005926.3
p.M127V
c.379A>G
1 paper
NM_005926.3
p.R126R
c.378C>A
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