Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.R996Q

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
4 papers
NM_001304359.2
p.R996Q
c.2987G>A
Surrounding Variants
1 paper
NM_001304359.2
p.S1025R
c.3073A>C
1 paper
NM_001304359.2
p.S939R
c.2817C>A
1 paper
NM_001304359.2
p.S939R
c.2817C>G
1 paper
NM_001304359.2
p.S939R
c.2815A>C
1 paper
NM_001304359.2
p.Y906_D908delFs
c.2717_2724del8
1 paper
NM_001304359.2
p.D896insFs
c.2686_2687ins8
1 paper
NM_001304359.2
p.C894insFs
c.2680_2681insA
1 paper
NM_001304359.2
p.M891_W892insFs
c.2673_2674insA
1 paper
NM_001304359.2
p.W892ins5
c.2674_2675ins15
1 paper
NM_001304359.2
p.I858S
c.2573T>G
1 paper
NM_001304359.2
p.G855G
c.2565C>T
1 paper
NM_001304359.2
p.N1063D
c.3187A>G
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