Varaico: Literature-Extracted Genetic Variants

MUC5B

466 papers

RefSeq Summary

This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It ...

Pfam Domains

VWDaa 77–224UCSCvon Willebrand factor type D domain

C8aa 261–326UCSCC8 domain

TILaa 329–385UCSCTrypsin Inhibitor like cysteine rich domain

VWDaa 425–579UCSCvon Willebrand factor type D domain

C8aa 621–696UCSCC8 domain

TILaa 695–752UCSCTrypsin Inhibitor like cysteine rich domain

Gene Aliases

HGNC Name

mucin 5B, oligomeric mucus/gel-forming

HGNC Previous Symbol

MUC5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002458.3

p.C1124C

c.3372T>C

Surrounding Variants

1 paper

NM_002458.3

p.A1128T

c.3382G>A

1 paper

NM_002458.3

p.D1121N

c.3361G>A

2 papers

NM_002458.3

p.G1120G

c.3360C>T

2 papers

NM_002458.3

p.G1119G

c.3357T>G

2 papers

NM_002458.3

p.S1118S

c.3354G>C

2 papers

NM_002458.3

p.A1130A

c.3390T>C

1 paper

NM_002458.3

p.S1118A

c.3352T>G

1 paper

NM_002458.3

p.A1133T

c.3397G>A

2 papers

NM_002458.3

p.C1114C

c.3342T>C

1 paper

NM_002458.3

p.A1113A

c.3339G>A

2 papers

NM_002458.3

p.H1137H

c.3411C>T

18 papers

NM_002458.3

p.D1138E

c.3414C>A