Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.T245_E254del0

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.T245_E254del0
c.733_762del30
Surrounding Variants
1 paper
NM_001304359.2
p.T245S
c.733A>T
3 papers
NM_001304359.2
p.D246E
c.738C>A
3 papers
NM_001304359.2
p.D246E
c.738C>G
1 paper
NM_001304359.2
p.D242_V252del0
c.726_755del30
1 paper
NM_001304359.2
p.Q239L
c.716A>T
1 paper
NM_001304359.2
p.P232L
c.695C>T
1 paper
NM_001304359.2
p.E267Q
c.799G>C
1 paper
NM_001304359.2
p.G272delFs
c.816delC
1 paper
NM_001304359.2
p.D283D
c.849C>T
1 paper
NM_001304359.2
p.G285S
c.853G>A
1 paper
NM_001304359.2
p.S305N
c.914G>A
1 paper
NM_001304359.2
p.A312P
c.934G>C
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