Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.V219G

MUC5AC

208 papers

Pfam Domains

VWDaa 81–227UCSCvon Willebrand factor type D domain
C8aa 265–335UCSCC8 domain
TILaa 338–394UCSCTrypsin Inhibitor like cysteine rich domain
VWDaa 434–588UCSCvon Willebrand factor type D domain
C8aa 630–699UCSCC8 domain
TILaa 704–761UCSCTrypsin Inhibitor like cysteine rich domain

Gene Aliases

HGNC Name

mucin 5AC, oligomeric mucus/gel-forming

HGNC Alias Symbol

MUC5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001304359.2
p.V219G
c.656T>G
Surrounding Variants
1 paper
NM_001304359.2
p.V220I
c.658G>A
2 papers
NM_001304359.2
p.S221R
c.661A>C
2 papers
NM_001304359.2
p.S221R
c.663C>A
2 papers
NM_001304359.2
p.S221R
c.663C>G
1 paper
NM_001304359.2
p.E222K
c.664G>A
1 paper
NM_001304359.2
p.D200V
c.599A>T
1 paper
NM_001304359.2
p.E198G
c.593A>G
1 paper
NM_001304359.2
p.R182K
c.545G>A
1 paper
NM_001304359.2
p.T177_R182del0
c.529_546del18
1 paper
NM_001304359.2
p.S175_N190del16
c.523_569del48
1 paper
NM_001304359.2
p.Q171*
c.511C>T
2 papers
NM_001304359.2
p.L160L
c.480G>C
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