Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.P2816fs

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.P2816fs
c.8446_8447fs
Surrounding Variants
1 paper
NM_001304359.2
p.T2789insFs
c.8365_8366insT
1 paper
NM_001304359.2
p.I2757T
c.8270T>C
1 paper
NM_001304359.2
p.S2726L
c.8177C>T
2 papers
NM_001304359.2
p.P2720S
c.8158C>T
1 paper
NM_001304359.2
p.S2686_A2687ins8
c.8056_8060ins24
1 paper
NM_001304359.2
p.S2680_T2681insA
c.8038_8042ins3
1 paper
NM_001304359.2
p.T2674_S2675ins15
c.8020_8024ins45
1 paper
NM_001304359.2
p.T2673_T2674insA
c.8017_8021ins3
1 paper
NM_001304359.2
p.S2618T
c.7853G>C
1 paper
NM_001304359.2
p.I2617T
c.7850T>C
2 papers
NM_001304359.2
p.S3047T
c.9139T>A
1 paper
NM_001304359.2
p.T2581N
c.7742C>A
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