Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.S53*

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.S53*
c.158C>G
Surrounding Variants
2 papers
NM_005926.3
p.S53A
c.157T>G
1 paper
NM_005926.3
p.S53T
c.157T>A
1 paper
NM_005926.3
p.D54N
c.160G>A
1 paper
NM_005926.3
p.S52S
c.156C>T
1 paper
NM_005926.3
p.S52F
c.155C>T
1 paper
NM_005926.3
p.D54V
c.161A>T
3 papers
NM_005926.3
p.D54A
c.161A>C
2 papers
NM_005926.3
p.S52A
c.154T>G
1 paper
NM_005926.3
p.D54E
c.162T>G
3 papers
NM_005926.3
p.D54E
c.162T>A
1 paper
NM_005926.3
p.E51D
c.153G>T
1 paper
NM_005926.3
p.E55Q
c.163G>C
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