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

3 papers

NM_002458.3

p.P1889L

c.5666C>T

Surrounding Variants

1 paper

NM_002458.3

p.S1883G

c.5647A>G

1 paper

NM_002458.3

p.T1903M

c.5708C>T

1 paper

NM_002458.3

p.R1875C

c.5623C>T

1 paper

NM_002458.3

p.T1903T

c.5709G>A

1 paper

NM_002458.3

p.V1874M

c.5620G>A

1 paper

NM_002458.3

p.T1908A

c.5722A>G

2 papers

NM_002458.3

p.T1916M

c.5747C>T

1 paper

NM_002458.3

p.A1918V

c.5753C>T

1 paper

NM_002458.3

p.V1846V

c.5538G>A

1 paper

NM_002458.3

p.P1935S

c.5803C>T

1 paper

NM_002458.3

p.P1936A

c.5806C>G

1 paper

NM_002458.3

p.T1941S

c.5821A>T