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.A3778T

c.11332G>A

Surrounding Variants

1 paper

NM_002458.3

p.F3770S

c.11309T>C

1 paper

NM_002458.3

p.I3797T

c.11390T>C

1 paper

NM_002458.3

p.T3804I

c.11411C>T

1 paper

NM_002458.3

p.T3812I

c.11435C>T

2 papers

NM_002458.3

p.S3743F

c.11228C>T

1 paper

NM_002458.3

p.S3742A

c.11224T>G

4 papers

NM_002458.3

p.T3816M

c.11447C>T

1 paper

NM_002458.3

p.V3733M

c.11197G>A

5 papers

NM_002458.3

p.A3831V

c.11492C>T

3 papers

NM_002458.3

p.T3839A

c.11515A>G

1 paper

NM_002458.3

p.P3712Q

c.11135C>A

1 paper

NM_002458.3

p.P3712A

c.11134C>G