Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC

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
1–12 of 246 variants
6 papers
NM_001304359.2
p.R3590H
c.10769G>A
5 papers
NM_001304359.2
p.W12*
c.35G>A
4 papers
NM_001304359.2
p.C103Y
c.308G>A
4 papers
NM_001304359.2
p.R996Q
c.2987G>A
3 papers
NM_001304359.2
p.D246E
c.738C>A
3 papers
NM_001304359.2
p.D246E
c.738C>G
3 papers
NM_001304359.2
p.L4460P
c.13379T>C
3 papers
NM_001304359.2
p.P4461L
c.13382C>T
3 papers
NM_001304359.2
p.T4495_A4503del0
c.13484_13507del24
2 papers
NM_001304359.2
p.W12L
c.35G>T
2 papers
NM_001304359.2
p.S34F
c.101C>T
2 papers
NM_001304359.2
p.L160L
c.480G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."