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.C3571S

c.10712G>C

Surrounding Variants

1 paper

NM_002458.3

p.C3571S

c.10711T>A

1 paper

NM_002458.3

p.P3573A

c.10717C>G

1 paper

NM_002458.3

p.T3569M

c.10706C>T

1 paper

NM_002458.3

p.I3563V

c.10687A>G

1 paper

NM_002458.3

p.S3557N

c.10670G>A

1 paper

NM_002458.3

p.L3553M

c.10657C>A

1 paper

NM_002458.3

p.G3593R

c.10777G>A

1 paper

NM_002458.3

p.G3593R

c.10777G>C

1 paper

NM_002458.3

p.A3543V

c.10628C>T

1 paper

NM_002458.3

p.A3604D

c.10811C>A

1 paper

NM_002458.3

p.G3605R

c.10813G>A

1 paper

NM_002458.3

p.G3605R

c.10813G>C