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.T3326M

c.9977C>T

Surrounding Variants

1 paper

NM_002458.3

p.A3318A

c.9954C>T

1 paper

NM_002458.3

p.T3341T

c.10023A>G

1 paper

NM_002458.3

p.R3343S

c.10029A>C

1 paper

NM_002458.3

p.R3343S

c.10029A>T

1 paper

NM_002458.3

p.T3346M

c.10037C>T

1 paper

NM_002458.3

p.P3349T

c.10045C>A

1 paper

NM_002458.3

p.T3360R

c.10079C>G

3 papers

NM_002458.3

p.R3288G

c.9862A>G

1 paper

NM_002458.3

p.T3287P

c.9859A>C

3 papers

NM_002458.3

p.T3284A

c.9850A>G

1 paper

NM_002458.3

p.T3270S

c.9809C>G

1 paper

NM_002458.3

p.T3270S

c.9808A>T