Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E138E

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.E138E
c.414G>A
Surrounding Variants
1 paper
NM_005926.3
p.E138D
c.414G>T
1 paper
NM_005926.3
p.E139Q
c.415G>C
1 paper
NM_005926.3
p.E139K
c.415G>A
1 paper
NM_005926.3
p.E137insFs
c.411dupG
1 paper
NM_005926.3
p.E138*
c.412G>T
1 paper
NM_005926.3
p.E138insFs
c.412_413insT
1 paper
NM_005926.3
p.E138K
c.412G>A
1 paper
NM_005926.3
p.E135_E137delFs
c.405_409del5
1 paper
NM_005926.3
p.E139G
c.416A>G
1 paper
NM_005926.3
p.E137E
c.411G>A
1 paper
NM_005926.3
p.E139D
c.417A>T
1 paper
NM_005926.3
p.E139D
c.417A>C
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