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

1 paper

NM_002458.3

p.T3220I

c.9659C>T

Surrounding Variants

1 paper

NM_002458.3

p.A3221T

c.9661G>A

2 papers

NM_002458.3

p.T3228I

c.9683C>T

1 paper

NM_002458.3

p.A3239P

c.9715G>C

1 paper

NM_002458.3

p.I3240I

c.9720C>A

1 paper

NM_002458.3

p.T3199T

c.9597G>A

1 paper

NM_002458.3

p.S3244C

c.9731C>G

1 paper

NM_002458.3

p.L3193P

c.9578T>C

1 paper

NM_002458.3

p.T3250I

c.9749C>T

1 paper

NM_002458.3

p.A3188V

c.9563C>T

2 papers

NM_002458.3

p.R3187Q

c.9560G>A

1 paper

NM_002458.3

p.T3177S

c.9530C>G

1 paper

NM_002458.3

p.T3177A

c.9529A>G