Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.Y47*

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.Y47*
c.141T>A
Surrounding Variants
1 paper
NM_005926.3
p.Y47F
c.140A>T
1 paper
NM_005926.3
p.Y47C
c.140A>G
1 paper
NM_005926.3
p.Y47S
c.140A>C
1 paper
NM_005926.3
p.A48V
c.143C>T
1 paper
NM_005926.3
p.A48D
c.143C>A
1 paper
NM_005926.3
p.A48delFs
c.142_143delGC
2 papers
NM_005926.3
p.D46A
c.137A>C
1 paper
NM_005926.3
p.D46Y
c.136G>T
2 papers
NM_005926.3
p.M50L
c.148A>T
1 paper
NM_005926.3
p.M50T
c.149T>C
1 paper
NM_005926.3
p.M50K
c.149T>A
1 paper
NM_005926.3
p.P45S
c.133C>T
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