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.R684S

c.2052G>C

Surrounding Variants

1 paper

NM_002458.3

p.R684S

c.2052G>T

1 paper

NM_002458.3

p.D685G

c.2054A>G

1 paper

NM_002458.3

p.W683*

c.2049G>A

1 paper

NM_002458.3

p.W683*

c.2048G>A

10 papers

NM_002458.3

p.D682G

c.2045A>G

6 papers

NM_002458.3

p.S681G

c.2041A>G

1 paper

NM_002458.3

p.T689I

c.2066C>T

1 paper

NM_002458.3

p.A675T

c.2023G>A

2 papers

NM_002458.3

p.Y669Y

c.2007T>C

1 paper

NM_002458.3

p.S667F

c.2000C>T

2 papers

NM_002458.3

p.A665V

c.1994C>T

1 paper

NM_002458.3

p.L662_S668ins2

c.1986_2003dup18