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

3 papers

NM_002458.3

p.T3284A

c.9850A>G

Surrounding Variants

1 paper

NM_002458.3

p.T3287P

c.9859A>C

3 papers

NM_002458.3

p.R3288G

c.9862A>G

1 paper

NM_002458.3

p.T3270S

c.9809C>G

1 paper

NM_002458.3

p.T3270S

c.9808A>T

2 papers

NM_002458.3

p.S3269S

c.9807T>C

1 paper

NM_002458.3

p.A3265P

c.9793G>C

1 paper

NM_002458.3

p.T3250I

c.9749C>T

1 paper

NM_002458.3

p.A3318A

c.9954C>T

1 paper

NM_002458.3

p.S3244C

c.9731C>G

1 paper

NM_002458.3

p.T3326M

c.9977C>T

1 paper

NM_002458.3

p.I3240I

c.9720C>A

1 paper

NM_002458.3

p.A3239P

c.9715G>C