Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.P1320insFs

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.P1320insFs
c.3960dupC
Surrounding Variants
1 paper
NM_001304359.2
p.R1304H
c.3911G>A
1 paper
NM_001304359.2
p.T1297M
c.3890C>T
1 paper
NM_001304359.2
p.D1288D
c.3864C>T
1 paper
NM_001304359.2
p.S1378S
c.4134A>G
1 paper
NM_001304359.2
p.C1237F
c.3710G>T
1 paper
NM_001304359.2
p.E1422K
c.4264G>A
1 paper
NM_001304359.2
p.A1431A
c.4293T>C
2 papers
NM_001304359.2
p.P1480A
c.4438C>G
1 paper
NM_001304359.2
p.P1487T
c.4459C>A
1 paper
NM_001304359.2
p.S1507T
c.4519T>A
1 paper
NM_001304359.2
p.R1201W
c.3601C>T
1 paper
NM_001304359.2
p.P1544P
c.4632A>T
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