Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E59*

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.E59*
c.175G>T
Surrounding Variants
2 papers
NM_005926.3
p.E59Q
c.175G>C
1 paper
NM_005926.3
p.E59K
c.175G>A
2 papers
NM_005926.3
p.E58D
c.174A>T
2 papers
NM_005926.3
p.E58D
c.174A>C
2 papers
NM_005926.3
p.E59D
c.177A>T
2 papers
NM_005926.3
p.E58G
c.173A>G
1 paper
NM_005926.3
p.E59D
c.177A>C
1 paper
NM_005926.3
p.E58A
c.173A>C
1 paper
NM_005926.3
p.E58_E59ins0
c.173_175dupAAG
1 paper
NM_005926.3
p.F60I
c.178T>A
1 paper
NM_005926.3
p.E58K
c.172G>A
1 paper
NM_005926.3
p.M50_D57insFs
c.148_170dup23
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