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.P2305H

c.6914C>A

Surrounding Variants

1 paper

NM_002458.3

p.T2308R

c.6923C>G

1 paper

NM_002458.3

p.R2292H

c.6875G>A

1 paper

NM_002458.3

p.R2292C

c.6874C>T

1 paper

NM_002458.3

p.W2320R

c.6958T>A

1 paper

NM_002458.3

p.W2320R

c.6958T>C

1 paper

NM_002458.3

p.S2289S

c.6867C>T

1 paper

NM_002458.3

p.S2280S

c.6840C>T

1 paper

NM_002458.3

p.T2277R

c.6830C>G

1 paper

NM_002458.3

p.T2276S

c.6827C>G

1 paper

NM_002458.3

p.T2276S

c.6826A>T

1 paper

NM_002458.3

p.D2337N

c.7009G>A

1 paper

NM_002458.3

p.T2271N

c.6812C>A