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.S2978G

c.8932A>G

Surrounding Variants

4 papers

NM_002458.3

p.T2980M

c.8939C>T

2 papers

NM_002458.3

p.G2969S

c.8905G>A

1 paper

NM_002458.3

p.N2967S

c.8900A>G

1 paper

NM_002458.3

p.R2962R

c.8886T>C

2 papers

NM_002458.3

p.E2995K

c.8983G>A

1 paper

NM_002458.3

p.E2960K

c.8878G>A

1 paper

NM_002458.3

p.T2997I

c.8990C>T

3 papers

NM_002458.3

p.T3002K

c.9005C>A

1 paper

NM_002458.3

p.A3004T

c.9010G>A

1 paper

NM_002458.3

p.E2948K

c.8842G>A

2 papers

NM_002458.3

p.P3012L

c.9035C>T

1 paper

NM_002458.3

p.P3012P

c.9036G>A