Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E74A

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
2 papers
NM_005926.3
p.E74A
c.221A>C
Surrounding Variants
1 paper
NM_005926.3
p.E74G
c.221A>G
1 paper
NM_005926.3
p.E74D
c.222G>C
1 paper
NM_005926.3
p.E74K
c.220G>A
1 paper
NM_005926.3
p.E68_P73del6
c.202_218del18
1 paper
NM_005926.3
p.E75Q
c.223G>C
1 paper
NM_005926.3
p.E75K
c.223G>A
1 paper
NM_005926.3
p.E75fs
c.223_224fs
3 papers
NM_005926.3
p.E75A
c.224A>C
1 paper
NM_005926.3
p.E74_E75delFs
c.222_223delCC
2 papers
NM_005926.3
p.P73T
c.217C>A
1 paper
NM_005926.3
p.E72delFs
c.216delC
1 paper
NM_005926.3
p.E75D
c.225A>T
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