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.T4312R

c.12935C>G

Surrounding Variants

1 paper

NM_002458.3

p.K4317T

c.12950A>C

1 paper

NM_002458.3

p.S4318P

c.12952T>C

2 papers

NM_002458.3

p.A4305V

c.12914C>T

1 paper

NM_002458.3

p.T4304N

c.12911C>A

1 paper

NM_002458.3

p.R4303fs

c.12907_12908fs

1 paper

NM_002458.3

p.V4323I

c.12967G>A

4 papers

NM_002458.3

p.V4323F

c.12967G>T

2 papers

NM_002458.3

p.P4285T

c.12853C>A

1 paper

NM_002458.3

p.P4344T

c.13030C>A

3 papers

NM_002458.3

p.V4345M

c.13033G>A

1 paper

NM_002458.3

p.G4274E

c.12821G>A

1 paper

NM_002458.3

p.S4355C

c.13064C>G