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.E2447A

c.7340A>C

Surrounding Variants

1 paper

NM_002458.3

p.E2447E

c.7341G>A

1 paper

NM_002458.3

p.T2445M

c.7334C>T

1 paper

NM_002458.3

p.T2440S

c.7319C>G

1 paper

NM_002458.3

p.T2440S

c.7318A>T

1 paper

NM_002458.3

p.P2455L

c.7364C>T

1 paper

NM_002458.3

p.L2439R

c.7316T>G

2 papers

NM_002458.3

p.E2438K

c.7312G>A

1 paper

NM_002458.3

p.P2468L

c.7403C>T

1 paper

NM_002458.3

p.M2425T

c.7274T>C

1 paper

NM_002458.3

p.A2424T

c.7270G>A

1 paper

NM_002458.3

p.V2474M

c.7420G>A

1 paper

NM_002458.3

p.P2418L

c.7253C>T