Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.C103S

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.C103S
c.307T>A
Surrounding Variants
1 paper
NM_001304359.2
p.L102L
c.306C>G
4 papers
NM_001304359.2
p.C103Y
c.308G>A
1 paper
NM_001304359.2
p.C103S
c.308G>C
1 paper
NM_001304359.2
p.F97F
c.291C>T
1 paper
NM_001304359.2
p.G94D
c.281G>A
1 paper
NM_001304359.2
p.N119Y
c.355A>T
1 paper
NM_001304359.2
p.G85A
c.254G>C
1 paper
NM_001304359.2
p.E127*
c.379G>T
1 paper
NM_001304359.2
p.N77N
c.231C>T
1 paper
NM_001304359.2
p.A71A
c.213C>T
1 paper
NM_001304359.2
p.H157Y
c.469C>T
1 paper
NM_001304359.2
p.H157R
c.470A>G
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