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.I639del1

c.1915_1916delATC

Surrounding Variants

1 paper

NM_002458.3

p.P641S

c.1921C>T

4 papers

NM_002458.3

p.S646*

c.1937C>A

2 papers

NM_002458.3

p.S646_N647Splc

c.1938+1G>A

1 paper

NM_002458.3

p.R624H

c.1871G>A

4 papers

NM_002458.3

p.R619W

c.1855C>T

1 paper

NM_002458.3

p.N616fs

c.1846_1847fs

1 paper

NM_002458.3

p.S646_N647Splc

c.1939-8C>T

1 paper

NM_002458.3

p.C653R

c.1957T>C

1 paper

NM_002458.3

p.E659K

c.1975G>A

1 paper

NM_002458.3

p.L662_S668ins2

c.1986_2003dup18

2 papers

NM_002458.3

p.A665V

c.1994C>T

1 paper

NM_002458.3

p.S667F

c.2000C>T