Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E111D

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.E111D
c.333A>T
Surrounding Variants
1 paper
NM_005926.3
p.E111D
c.333A>C
1 paper
NM_005926.3
p.E111A
c.332A>C
1 paper
NM_005926.3
p.V112A
c.335T>C
1 paper
NM_005926.3
p.E111K
c.331G>A
1 paper
NM_005926.3
p.P110P
c.330T>C
1 paper
NM_005926.3
p.V112V
c.336G>C
1 paper
NM_005926.3
p.V112V
c.336G>A
1 paper
NM_005926.3
p.V113I
c.337G>A
1 paper
NM_005926.3
p.P110R
c.329C>G
1 paper
NM_005926.3
p.V113E
c.338T>A
2 papers
NM_005926.3
p.V112_V113delFs
c.336_337delCC
1 paper
NM_005926.3
p.P110A
c.328C>G
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