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.S3516R

c.10548C>A

Surrounding Variants

1 paper

NM_002458.3

p.S3516R

c.10548C>G

1 paper

NM_002458.3

p.S3516R

c.10546A>C

1 paper

NM_002458.3

p.R3517R

c.10551G>A

1 paper

NM_002458.3

p.P3523T

c.10567C>A

2 papers

NM_002458.3

p.S3500G

c.10498A>G

2 papers

NM_002458.3

p.G3535A

c.10604G>C

1 paper

NM_002458.3

p.A3497G

c.10490C>G

1 paper

NM_002458.3

p.A3496T

c.10486G>A

3 papers

NM_002458.3

p.V3490G

c.10469T>G

1 paper

NM_002458.3

p.A3543V

c.10628C>T

1 paper

NM_002458.3

p.T3482I

c.10445C>T

1 paper

NM_002458.3

p.L3553M

c.10657C>A