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.G4644G

c.13932G>A

Surrounding Variants

1 paper

NM_002458.3

p.S4633R

c.13899T>A

1 paper

NM_002458.3

p.S4633R

c.13899T>G

1 paper

NM_002458.3

p.S4633R

c.13897A>C

1 paper

NM_002458.3

p.T4656N

c.13967C>A

1 paper

NM_002458.3

p.P4630H

c.13889C>A

1 paper

NM_002458.3

p.P4616A

c.13846C>G

1 paper

NM_002458.3

p.P4615L

c.13844C>T

1 paper

NM_002458.3

p.L4613R

c.13838T>G

1 paper

NM_002458.3

p.P4609Q

c.13826C>A

2 papers

NM_002458.3

p.T4681I

c.14042C>T

1 paper

NM_002458.3

p.P4605S

c.13813C>T

1 paper

NM_002458.3

p.I4687_T4688del2

c.14059_14063del6