Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.Q14*

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.Q14*
c.40C>T
Surrounding Variants
1 paper
NM_005926.3
p.Q14E
c.40C>G
3 papers
NM_005926.3
p.Q14K
c.40C>A
1 paper
NM_005926.3
p.P4_P12delFs
c.12_36del25
1 paper
NM_005926.3
p.Q14H
c.42G>C
1 paper
NM_005926.3
p.Q14Q
c.42G>A
1 paper
NM_005926.3
p.S15A
c.43T>G
1 paper
NM_005926.3
p.S15T
c.43T>A
1 paper
NM_005926.3
p.I13V
c.37A>G
1 paper
NM_005926.3
p.S15F
c.44C>T
1 paper
NM_005926.3
p.P12P
c.36C>T
3 papers
NM_005926.3
p.S15C
c.44C>G
1 paper
NM_005926.3
p.P12_I13insFs
c.36_37insA
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