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.K3060T

c.9179A>C

Surrounding Variants

2 papers

NM_002458.3

p.S3061P

c.9181T>C

1 paper

NM_002458.3

p.F3066V

c.9196T>G

1 paper

NM_002458.3

p.T3050A

c.9148A>G

1 paper

NM_002458.3

p.A3048V

c.9143C>T

3 papers

NM_002458.3

p.F3072S

c.9215T>C

1 paper

NM_002458.3

p.T3047N

c.9140C>A

1 paper

NM_002458.3

p.Q3083E

c.9247C>G

1 paper

NM_002458.3

p.T3035I

c.9104C>T

1 paper

NM_002458.3

p.M3088V

c.9262A>G

1 paper

NM_002458.3

p.T3026S

c.9077C>G

1 paper

NM_002458.3

p.T3026S

c.9076A>T

1 paper

NM_002458.3

p.P3096_S3097del1

c.9287_9289delCCT