Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.D353E

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.D353E
c.1059C>A
Surrounding Variants
1 paper
NM_001304359.2
p.D353E
c.1059C>G
1 paper
NM_001304359.2
p.P350S
c.1048C>T
2 papers
NM_001304359.2
p.R362W
c.1084C>T
1 paper
NM_001304359.2
p.Q336H
c.1008G>C
1 paper
NM_001304359.2
p.Q336H
c.1008G>T
2 papers
NM_001304359.2
p.D332Y
c.994G>T
1 paper
NM_001304359.2
p.D327_W328delins
c.981_982delinsAC
1 paper
NM_001304359.2
p.L324fs
c.970_971fs
1 paper
NM_001304359.2
p.G323delFs
c.969delG
1 paper
NM_001304359.2
p.H320L
c.959A>T
1 paper
NM_001304359.2
p.A312P
c.934G>C
1 paper
NM_001304359.2
p.S305N
c.914G>A
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