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.R1969I

c.5906G>T

Surrounding Variants

1 paper

NM_002458.3

p.A1964T

c.5890G>A

2 papers

NM_002458.3

p.P1982A

c.5944C>G

1 paper

NM_002458.3

p.S1987F

c.5960C>T

1 paper

NM_002458.3

p.T1944T

c.5832C>G

1 paper

NM_002458.3

p.R1994C

c.5980C>T

1 paper

NM_002458.3

p.T1942M

c.5825C>T

1 paper

NM_002458.3

p.T1941S

c.5822C>G

1 paper

NM_002458.3

p.T1941S

c.5821A>T

1 paper

NM_002458.3

p.P1936A

c.5806C>G

1 paper

NM_002458.3

p.P1935S

c.5803C>T

1 paper

NM_002458.3

p.A2017V

c.6050C>T

1 paper

NM_002458.3

p.A1918V

c.5753C>T