Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.W12*

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
5 papers
NM_001304359.2
p.W12*
c.35G>A
Surrounding Variants
2 papers
NM_001304359.2
p.W12L
c.35G>T
1 paper
NM_001304359.2
p.W12*
c.36G>A
1 paper
NM_001304359.2
p.A15T
c.43G>A
1 paper
NM_001304359.2
p.A15D
c.44C>A
1 paper
NM_001304359.2
p.A15G
c.44C>G
1 paper
NM_001304359.2
p.V3insFs
c.8_9ins4
1 paper
NM_001304359.2
p.M1I
c.3G>A
1 paper
NM_001304359.2
p.M1insFs
c.2dupT
1 paper
NM_001304359.2
p.H23H
c.69T>C
1 paper
NM_001304359.2
p.D29N
c.85G>A
1 paper
NM_001304359.2
p.G30G
c.90C>T
1 paper
NM_001304359.2
p.S31C
c.92C>G
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