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.T3950M

c.11849C>T

Surrounding Variants

1 paper

NM_002458.3

p.T3952N

c.11855C>A

1 paper

NM_002458.3

p.P3944S

c.11830C>T

1 paper

NM_002458.3

p.P3971P

c.11913T>C

1 paper

NM_002458.3

p.T3923S

c.11768C>G

1 paper

NM_002458.3

p.T3923S

c.11767A>T

1 paper

NM_002458.3

p.T3912I

c.11735C>T

1 paper

NM_002458.3

p.V3909I

c.11725G>A

1 paper

NM_002458.3

p.T3896I

c.11687C>T

1 paper

NM_002458.3

p.P3887L

c.11660C>T

1 paper

NM_002458.3

p.T3886M

c.11657C>T

3 papers

NM_002458.3

p.R3885S

c.11653C>A

1 paper

NM_002458.3

p.T3883M

c.11648C>T