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.T2570S

c.7708A>T

Surrounding Variants

1 paper

NM_002458.3

p.T2570S

c.7709C>G

1 paper

NM_002458.3

p.S2569S

c.7707C>T

1 paper

NM_002458.3

p.V2574A

c.7721T>C

5 papers

NM_002458.3

p.T2559M

c.7676C>T

1 paper

NM_002458.3

p.T2587T

c.7761C>T

17 papers

NM_002458.3

p.G2588R

c.7762G>A

16 papers

NM_002458.3

p.G2588R

c.7762G>C

1 paper

NM_002458.3

p.G2591R

c.7771G>C

6 papers

NM_002458.3

p.T2548A

c.7642A>G

1 paper

NM_002458.3

p.S2592Y

c.7775C>A

1 paper

NM_002458.3

p.A2594V

c.7781C>T

1 paper

NM_002458.3

p.P2596S

c.7786C>T