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.T4706A

c.14116A>G

Surrounding Variants

1 paper

NM_002458.3

p.T4706P

c.14116A>C

1 paper

NM_002458.3

p.S4711T

c.14132G>C

1 paper

NM_002458.3

p.S4711ins5

c.14132_14133ins15

2 papers

NM_002458.3

p.P4716P

c.14148C>T

1 paper

NM_002458.3

p.T4688M

c.14063C>T

2 papers

NM_002458.3

p.T4686M

c.14057C>T

1 paper

NM_002458.3

p.I4687_T4688del2

c.14059_14063del6

2 papers

NM_002458.3

p.T4681I

c.14042C>T

1 paper

NM_002458.3

p.T4741P

c.14221A>C

1 paper

NM_002458.3

p.A4742S

c.14224G>T

1 paper

NM_002458.3

p.A4747T

c.14239G>A

1 paper

NM_002458.3

p.T4656N

c.13967C>A