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.P1062P

c.3186G>A

Surrounding Variants

1 paper

NM_002458.3

p.C1071S

c.3211T>A

1 paper

NM_002458.3

p.T1072T

c.3216G>A

1 paper

NM_002458.3

p.N1074S

c.3221A>G

1 paper

NM_002458.3

p.N1074I

c.3221A>T

1 paper

NM_002458.3

p.A1048A

c.3144A>G

6 papers

NM_002458.3

p.A1048V

c.3143C>T

1 paper

NM_002458.3

p.A1048T

c.3142G>A

2 papers

NM_002458.3

p.V1045L

c.3133G>T

1 paper

NM_002458.3

p.S1043S

c.3129C>T

1 paper

NM_002458.3

p.A1081A

c.3243C>T

1 paper

NM_002458.3

p.R1040R

c.3120T>G

1 paper

NM_002458.3

p.A1038V

c.3113C>T