Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.V22V

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.V22V
c.66T>A
Surrounding Variants
1 paper
NM_005926.3
p.R23G
c.67C>G
1 paper
NM_005926.3
p.R23S
c.67C>A
1 paper
NM_005926.3
p.R23L
c.68G>T
1 paper
NM_005926.3
p.R23P
c.68G>C
1 paper
NM_005926.3
p.R23H
c.68G>A
1 paper
NM_005926.3
p.I13_R23delFs
c.39_67del29
2 papers
NM_005926.3
p.R23R
c.69C>T
2 papers
NM_005926.3
p.R23R
c.69C>G
1 paper
NM_005926.3
p.R23R
c.69C>A
1 paper
NM_005926.3
p.V22_R23delFs
c.64_67del4
2 papers
NM_005926.3
p.P21S
c.61C>T
1 paper
NM_005926.3
p.P21A
c.61C>G
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