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

1–12 of 932 variants

18 papers

NM_002458.3

p.D1138E

c.3414C>A

17 papers

NM_002458.3

p.D1138E

c.3414C>G

17 papers

NM_002458.3

p.G2588R

c.7762G>A

16 papers

NM_002458.3

p.A1139V

c.3416C>T

16 papers

NM_002458.3

p.G2588R

c.7762G>C

10 papers

NM_002458.3

p.D682G

c.2045A>G

9 papers

NM_002458.3

p.N1032I

c.3095A>T

9 papers

NM_002458.3

p.D1149N

c.3445G>A

6 papers

NM_002458.3

p.S681G

c.2041A>G

6 papers

NM_002458.3

p.A1048V

c.3143C>T

6 papers

NM_002458.3

p.D1149G

c.3446A>G

6 papers

NM_002458.3

p.L1468L

c.4404A>G