Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.S41delFs

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.S41delFs
c.121delA
Surrounding Variants
1 paper
NM_005926.3
p.S41C
c.122C>G
2 papers
NM_005926.3
p.S41Y
c.122C>A
2 papers
NM_005926.3
p.S41A
c.121T>G
1 paper
NM_005926.3
p.S41T
c.121T>A
1 paper
NM_005926.3
p.V40A
c.119T>C
1 paper
NM_005926.3
p.G42E
c.125G>A
3 papers
NM_005926.3
p.V40M
c.118G>A
1 paper
NM_005926.3
p.G42G
c.126A>T
1 paper
NM_005926.3
p.G42insFs
c.125dupG
1 paper
NM_005926.3
p.G42delFs
c.124_125delCC
2 papers
NM_005926.3
p.Y39*
c.117T>A
1 paper
NM_005926.3
p.K43E
c.127A>G
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