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.T3002K

c.9005C>A

Surrounding Variants

1 paper

NM_002458.3

p.A3004T

c.9010G>A

1 paper

NM_002458.3

p.T2997I

c.8990C>T

2 papers

NM_002458.3

p.E2995K

c.8983G>A

2 papers

NM_002458.3

p.P3012L

c.9035C>T

1 paper

NM_002458.3

p.P3012P

c.9036G>A

1 paper

NM_002458.3

p.S3013P

c.9037T>C

1 paper

NM_002458.3

p.P3016L

c.9047C>T

1 paper

NM_002458.3

p.A3019fs

c.9055_9056fs

1 paper

NM_002458.3

p.A3019V

c.9056C>T

1 paper

NM_002458.3

p.P3022H

c.9065C>A

4 papers

NM_002458.3

p.T2980M

c.8939C>T

1 paper

NM_002458.3

p.T3026S

c.9076A>T