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

2 papers

NM_002458.3

p.L2238P

c.6713T>C

Surrounding Variants

1 paper

NM_002458.3

p.V2233G

c.6698T>G

1 paper

NM_002458.3

p.E2229Q

c.6685G>C

2 papers

NM_002458.3

p.I2221T

c.6662T>C

1 paper

NM_002458.3

p.R2211H

c.6632G>A

2 papers

NM_002458.3

p.R2211P

c.6632G>C

1 paper

NM_002458.3

p.P2268Q

c.6803C>A

1 paper

NM_002458.3

p.T2271N

c.6812C>A

2 papers

NM_002458.3

p.P2203S

c.6607C>T

1 paper

NM_002458.3

p.R2200R

c.6600A>G

1 paper

NM_002458.3

p.T2276S

c.6826A>T

1 paper

NM_002458.3

p.T2276S

c.6827C>G

1 paper

NM_002458.3

p.R2200Q

c.6599G>A