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.P2814delFs

c.8441delC

Surrounding Variants

3 papers

NM_002458.3

p.P2830L

c.8489C>T

1 paper

NM_002458.3

p.H2793Q

c.8379C>A

1 paper

NM_002458.3

p.H2793Q

c.8379C>G

2 papers

NM_002458.3

p.R2834T

c.8501G>C

1 paper

NM_002458.3

p.T2836P

c.8506A>C

1 paper

NM_002458.3

p.T2836I

c.8507C>T

1 paper

NM_002458.3

p.T2840T

c.8520G>A

1 paper

NM_002458.3

p.T2778I

c.8333C>T

1 paper

NM_002458.3

p.W2771*

c.8312G>A

1 paper

NM_002458.3

p.R2768H

c.8303G>A

2 papers

NM_002458.3

p.P2862P

c.8586A>C

1 paper

NM_002458.3

p.T2865M

c.8594C>T