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.W1709*

c.5126G>A

Surrounding Variants

1 paper

NM_002458.3

p.W1709*

c.5127G>A

1 paper

NM_002458.3

p.T1703M

c.5108C>T

1 paper

NM_002458.3

p.T1716T

c.5148G>A

1 paper

NM_002458.3

p.T1721I

c.5162C>T

1 paper

NM_002458.3

p.A1678V

c.5033C>T

1 paper

NM_002458.3

p.T1742I

c.5225C>T

1 paper

NM_002458.3

p.T1743M

c.5228C>T

1 paper

NM_002458.3

p.T1671M

c.5012C>T

1 paper

NM_002458.3

p.T1750R

c.5249C>G

1 paper

NM_002458.3

p.T1750M

c.5249C>T

1 paper

NM_002458.3

p.T1663R

c.4988C>G

1 paper

NM_002458.3

p.S1659F

c.4976C>T