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.L4170M

c.12508C>A

Surrounding Variants

1 paper

NM_002458.3

p.E4173K

c.12517G>A

1 paper

NM_002458.3

p.C4174F

c.12521G>T

1 paper

NM_002458.3

p.A4176T

c.12526G>A

2 papers

NM_002458.3

p.Q4179H

c.12537G>C

2 papers

NM_002458.3

p.Q4179H

c.12537G>T

1 paper

NM_002458.3

p.R4159H

c.12476G>A

1 paper

NM_002458.3

p.G4185R

c.12553G>C

1 paper

NM_002458.3

p.M4144T

c.12431T>C

1 paper

NM_002458.3

p.N4224S

c.12671A>G

1 paper

NM_002458.3

p.S4108L

c.12323C>T

1 paper

NM_002458.3

p.T4237T

c.12711G>A

1 paper

NM_002458.3

p.M4239T

c.12716T>C