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

2 papers

NM_002458.3

p.S1482L

c.4445C>T

Surrounding Variants

2 papers

NM_002458.3

p.A1479V

c.4436C>T

1 paper

NM_002458.3

p.T1477M

c.4430C>T

1 paper

NM_002458.3

p.T1477A

c.4429A>G

1 paper

NM_002458.3

p.S1473N

c.4418G>A

2 papers

NM_002458.3

p.P1472L

c.4415C>T

1 paper

NM_002458.3

p.P1495delFs

c.4485delC

6 papers

NM_002458.3

p.L1468L

c.4404A>G

1 paper

NM_002458.3

p.S1496fs

c.4486_4487fs

1 paper

NM_002458.3

p.T1502N

c.4505C>A

1 paper

NM_002458.3

p.T1460S

c.4379C>G

1 paper

NM_002458.3

p.T1460S

c.4378A>T

1 paper

NM_002458.3

p.R1506Q

c.4517G>A