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.K4494R

c.13481A>G

Surrounding Variants

1 paper

NM_002458.3

p.K4494T

c.13481A>C

1 paper

NM_002458.3

p.A4506T

c.13516G>A

1 paper

NM_002458.3

p.L4507H

c.13520T>A

1 paper

NM_002458.3

p.H4480Y

c.13438C>T

1 paper

NM_002458.3

p.P4479fs

c.13435_13436fs

1 paper

NM_002458.3

p.F4522V

c.13564T>G

1 paper

NM_002458.3

p.L4530_G4531del2

c.13588_13592del6

2 papers

NM_002458.3

p.V4459M

c.13375G>A

1 paper

NM_002458.3

p.T4542S

c.13624A>T

1 paper

NM_002458.3

p.P4440L

c.13319C>T

1 paper

NM_002458.3

p.T4551T

c.13653A>C

1 paper

NM_002458.3

p.A4432A

c.13296G>A