Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.S116_D117insFs

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.S116_D117insFs
c.348_349insC
Surrounding Variants
1 paper
NM_005926.3
p.S116R
c.348T>G
1 paper
NM_005926.3
p.S116R
c.348T>A
1 paper
NM_005926.3
p.E115_S116delFs
c.344_347del4
2 papers
NM_005926.3
p.D117N
c.349G>A
1 paper
NM_005926.3
p.D117G
c.350A>G
1 paper
NM_005926.3
p.D117A
c.350A>C
1 paper
NM_005926.3
p.S116R
c.346A>C
1 paper
NM_005926.3
p.E115D
c.345G>T
1 paper
NM_005926.3
p.E115E
c.345G>A
1 paper
NM_005926.3
p.G114_D117ins1
c.340_351dup12
1 paper
NM_005926.3
p.S118A
c.352T>G
1 paper
NM_005926.3
p.E115G
c.344A>G
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