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.T2042I

c.6125C>T

Surrounding Variants

1 paper

NM_002458.3

p.P2039R

c.6116C>G

1 paper

NM_002458.3

p.P2052L

c.6155C>T

2 papers

NM_002458.3

p.A2025T

c.6073G>A

1 paper

NM_002458.3

p.L2023L

c.6069T>G

3 papers

NM_002458.3

p.A2061G

c.6182C>G

2 papers

NM_002458.3

p.A2061V

c.6182C>T

1 paper

NM_002458.3

p.T2062I

c.6185C>T

1 paper

NM_002458.3

p.T2021K

c.6062C>A

1 paper

NM_002458.3

p.A2017V

c.6050C>T

1 paper

NM_002458.3

p.P2073L

c.6218C>T

1 paper

NM_002458.3

p.R2086S

c.6258A>C

1 paper

NM_002458.3

p.R2086S

c.6258A>T