Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.R92C

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
2 papers
NM_005926.3
p.R92C
c.274C>T
Surrounding Variants
1 paper
NM_005926.3
p.R92L
c.275G>T
1 paper
NM_005926.3
p.N91K
c.273C>A
1 paper
NM_005926.3
p.N91I
c.272A>T
1 paper
NM_005926.3
p.N91T
c.272A>C
1 paper
NM_005926.3
p.I93I
c.279T>C
1 paper
NM_005926.3
p.Q90R
c.269A>G
1 paper
NM_005926.3
p.Q90P
c.269A>C
1 paper
NM_005926.3
p.Q90*
c.268C>T
1 paper
NM_005926.3
p.S94G
c.280A>G
1 paper
NM_005926.3
p.I93insFs
c.278_279insT
1 paper
NM_005926.3
p.I93delFs
c.279delA
1 paper
NM_005926.3
p.R88insFs
c.264dupT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."