Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.L63Q

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.L63Q
c.188T>A
Surrounding Variants
1 paper
NM_001304359.2
p.L63P
c.188T>C
1 paper
NM_001304359.2
p.P61S
c.181C>T
1 paper
NM_001304359.2
p.P67A
c.199C>G
1 paper
NM_001304359.2
p.V59insFs
c.175_176ins14
1 paper
NM_001304359.2
p.V59_R64delFs
c.175_190del16
1 paper
NM_001304359.2
p.L54I
c.160C>A
1 paper
NM_001304359.2
p.V52F
c.154G>T
1 paper
NM_001304359.2
p.G51Splc
c.152-30C>A
1 paper
NM_001304359.2
p.A71A
c.213C>T
1 paper
NM_001304359.2
p.N77N
c.231C>T
1 paper
NM_001304359.2
p.G85A
c.254G>C
1 paper
NM_001304359.2
p.G94D
c.281G>A
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