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.T2629T

c.7887G>A

Surrounding Variants

1 paper

NM_002458.3

p.L2630I

c.7888C>A

1 paper

NM_002458.3

p.L2630P

c.7889T>C

2 papers

NM_002458.3

p.R2628H

c.7883G>A

1 paper

NM_002458.3

p.R2628L

c.7883G>T

1 paper

NM_002458.3

p.R2628S

c.7882C>A

2 papers

NM_002458.3

p.T2626R

c.7877C>G

1 paper

NM_002458.3

p.T2626M

c.7877C>T

2 papers

NM_002458.3

p.W2633R

c.7897T>A

2 papers

NM_002458.3

p.W2633R

c.7897T>C

1 paper

NM_002458.3

p.P2620H

c.7859C>A

1 paper

NM_002458.3

p.G2615S

c.7843G>A

1 paper

NM_002458.3

p.T2614M

c.7841C>T