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.P4357S

c.13069C>T

Surrounding Variants

1 paper

NM_002458.3

p.P4357L

c.13070C>T

1 paper

NM_002458.3

p.P4357P

c.13071G>A

1 paper

NM_002458.3

p.S4355C

c.13064C>G

1 paper

NM_002458.3

p.T4368K

c.13103C>A

3 papers

NM_002458.3

p.V4345M

c.13033G>A

1 paper

NM_002458.3

p.P4344T

c.13030C>A

1 paper

NM_002458.3

p.A4370T

c.13108G>A

1 paper

NM_002458.3

p.T4371_T4372del1

c.13113_13115delCAC

1 paper

NM_002458.3

p.T4373del1

c.13117_13118delACA

1 paper

NM_002458.3

p.P4386P

c.13158G>A

1 paper

NM_002458.3

p.T4388T

c.13164G>C

1 paper

NM_002458.3

p.V4323I

c.12967G>A