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.S3854S

c.11562T>C

Surrounding Variants

1 paper

NM_002458.3

p.P3853H

c.11558C>A

1 paper

NM_002458.3

p.A3860V

c.11579C>T

1 paper

NM_002458.3

p.T3847T

c.11541C>T

1 paper

NM_002458.3

p.T3847P

c.11539A>C

1 paper

NM_002458.3

p.R3845G

c.11533A>G

2 papers

NM_002458.3

p.P3866L

c.11597C>T

1 paper

NM_002458.3

p.T3867S

c.11599A>T

1 paper

NM_002458.3

p.T3867S

c.11600C>G

1 paper

NM_002458.3

p.T3869I

c.11606C>T

3 papers

NM_002458.3

p.T3839A

c.11515A>G

3 papers

NM_002458.3

p.V3875A

c.11624T>C

5 papers

NM_002458.3

p.A3831V

c.11492C>T