Varaico: Literature-Extracted Genetic Variants

Gene:MUC5AC
Variant:p.L4612F

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.L4612F
c.13834C>T
Surrounding Variants
1 paper
NM_001304359.2
p.V4614I
c.13840G>A
1 paper
NM_001304359.2
p.S4625R
c.13873A>C
1 paper
NM_001304359.2
p.S4625R
c.13875T>A
1 paper
NM_001304359.2
p.S4625R
c.13875T>G
1 paper
NM_001304359.2
p.D4626N
c.13876G>A
1 paper
NM_001304359.2
p.P4595R
c.13784C>G
2 papers
NM_001304359.2
p.P4629L
c.13886C>T
1 paper
NM_001304359.2
p.L4630R
c.13889T>G
2 papers
NM_001304359.2
p.A4632T
c.13894G>A
1 paper
NM_001304359.2
p.K4635T
c.13904A>C
1 paper
NM_001304359.2
p.S4660N
c.13979G>A
1 paper
NM_001304359.2
p.T4561I
c.13682C>T
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