Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.S4496R

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.S4496R
c.13486A>C
Surrounding Variants
1 paper
NM_001304359.2
p.S4496R
c.13488C>A
1 paper
NM_001304359.2
p.T4495S
c.13484C>G
1 paper
NM_001304359.2
p.S4496R
c.13488C>G
1 paper
NM_001304359.2
p.T4495S
c.13483A>T
3 papers
NM_001304359.2
p.T4495_A4503del0
c.13484_13507del24
1 paper
NM_001304359.2
p.T4494I
c.13481C>T
1 paper
NM_001304359.2
p.A4500insFs
c.13498_13499insGT
1 paper
NM_001304359.2
p.A4500fs
c.13498_13499fs
1 paper
NM_001304359.2
p.S4501P
c.13501T>C
1 paper
NM_001304359.2
p.A4503G
c.13508C>G
1 paper
NM_001304359.2
p.T4511S
c.13531A>T
1 paper
NM_001304359.2
p.T4511S
c.13532C>G
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