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.E1511K

c.4531G>A

Surrounding Variants

1 paper

NM_002458.3

p.T1510_E1511delFs

c.4530_4531delAG

1 paper

NM_002458.3

p.T1510fs

c.4528_4529fs

1 paper

NM_002458.3

p.T1510A

c.4528A>G

1 paper

NM_002458.3

p.Q1508*

c.4522C>T

1 paper

NM_002458.3

p.D1514N

c.4540G>A

1 paper

NM_002458.3

p.E1515K

c.4543G>A

1 paper

NM_002458.3

p.R1506Q

c.4517G>A

1 paper

NM_002458.3

p.T1502N

c.4505C>A

1 paper

NM_002458.3

p.S1520P

c.4558T>C

1 paper

NM_002458.3

p.S1496fs

c.4486_4487fs

1 paper

NM_002458.3

p.P1495delFs

c.4485delC

1 paper

NM_002458.3

p.S1529P

c.4585T>C