Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.K3572E

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.K3572E
c.10714A>G
Surrounding Variants
6 papers
NM_001304359.2
p.R3590H
c.10769G>A
1 paper
NM_001304359.2
p.G3593_G3603del0
c.10779_10808del30
2 papers
NM_001304359.2
p.G3481S
c.10441G>A
1 paper
NM_001304359.2
p.T3468T
c.10404C>A
1 paper
NM_001304359.2
p.S3679fs
c.11035_11036fs
1 paper
NM_001304359.2
p.I3737T
c.11210T>C
1 paper
NM_001304359.2
p.P3339L
c.10016C>T
1 paper
NM_001304359.2
p.R3292H
c.9875G>A
1 paper
NM_001304359.2
p.S3902N
c.11705G>A
2 papers
NM_001304359.2
p.I3234V
c.9700A>G
1 paper
NM_001304359.2
p.T4095S
c.12283A>T
1 paper
NM_001304359.2
p.T4095S
c.12284C>G
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