Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.P2320A

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.P2320A
c.6958C>G
Surrounding Variants
1 paper
NM_001304359.2
p.P2328fs
c.6982_6983fs
1 paper
NM_001304359.2
p.N2306insFs
c.6917_6918insAC
1 paper
NM_001304359.2
p.N2306fs
c.6916_6917fs
1 paper
NM_001304359.2
p.G2305fs
c.6913_6914fs
1 paper
NM_001304359.2
p.G2305delFs
c.6913_6914delGG
2 papers
NM_001304359.2
p.P2352T
c.7054C>A
1 paper
NM_001304359.2
p.I2356T
c.7067T>C
1 paper
NM_001304359.2
p.V2256E
c.6767T>A
1 paper
NM_001304359.2
p.I2389T
c.7166T>C
1 paper
NM_001304359.2
p.P2396delFs
c.7188delC
2 papers
NM_001304359.2
p.T2238I
c.6713C>T
1 paper
NM_001304359.2
p.R2236_S2250del15
c.6706_6749del45
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