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.S4917R

c.14749A>C

Surrounding Variants

1 paper

NM_002458.3

p.S4917R

c.14751C>A

1 paper

NM_002458.3

p.S4917R

c.14751C>G

1 paper

NM_002458.3

p.S4911N

c.14732G>A

1 paper

NM_002458.3

p.R4904H

c.14711G>A

2 papers

NM_002458.3

p.V4900M

c.14698G>A

2 papers

NM_002458.3

p.P4895S

c.14683C>T

1 paper

NM_002458.3

p.S4940C

c.14819C>G

1 paper

NM_002458.3

p.T4893M

c.14678C>T

1 paper

NM_002458.3

p.F4944_C4945delFs

c.14830_14833del4

1 paper

NM_002458.3

p.G4949A

c.14846G>C

1 paper

NM_002458.3

p.S4869F

c.14606C>T

2 papers

NM_002458.3

p.A4867T

c.14599G>A