Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.K242Q

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.K242Q
c.724A>C
Surrounding Variants
1 paper
NM_005926.3
p.K242R
c.725A>G
1 paper
NM_005926.3
p.L241P
c.722T>C
1 paper
NM_005926.3
p.K242N
c.726G>T
1 paper
NM_005926.3
p.T240R
c.719C>G
1 paper
NM_005926.3
p.T240insFs
c.718dupA
2 papers
NM_005926.3
p.T240A
c.718A>G
1 paper
NM_005926.3
p.T240P
c.718A>C
1 paper
NM_005926.3
p.Y239C
c.716A>G
1 paper
NM_005926.3
p.Y239N
c.715T>A
1 paper
NM_005926.3
p.L225_K238delFs
c.675_714del40
1 paper
NM_005926.3
p.K238N
c.714G>C
1 paper
NM_005926.3
p.K242_I243Splc
c.726+9G>T
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