Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.R237C

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.R237C
c.709C>T
Surrounding Variants
1 paper
NM_005926.3
p.R237H
c.710G>A
1 paper
NM_005926.3
p.R236R
c.708G>A
1 paper
NM_005926.3
p.R236M
c.707G>T
1 paper
NM_005926.3
p.R236T
c.707G>C
1 paper
NM_005926.3
p.K238*
c.712A>T
2 papers
NM_005926.3
p.K238E
c.712A>G
1 paper
NM_005926.3
p.R236G
c.706A>G
3 papers
NM_005926.3
p.K238R
c.713A>G
1 paper
NM_005926.3
p.K238N
c.714G>C
2 papers
NM_005926.3
p.E235G
c.704A>G
1 paper
NM_005926.3
p.E235A
c.704A>C
1 paper
NM_005926.3
p.Y239N
c.715T>A
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