Varaico: Literature-Extracted Genetic Variants

MUC6

411 papers

RefSeq Summary

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an in...

Pfam Domains

VWDaa 45–193UCSCvon Willebrand factor type D domain

C8aa 231–298UCSCC8 domain

TILaa 302–357UCSCTrypsin Inhibitor like cysteine rich domain

VWDaa 397–550UCSCvon Willebrand factor type D domain

C8aa 591–661UCSCC8 domain

TILaa 664–721UCSCTrypsin Inhibitor like cysteine rich domain

Gene Aliases

HGNC Name

mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)

HGNC Alias Symbol

MUC-6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005961.3

p.M1671V

c.5011A>G

Surrounding Variants

6 papers

NM_005961.3

p.M1671R

c.5012T>G

5 papers

NM_005961.3

p.T1670P

c.5008A>C

1 paper

NM_005961.3

p.L1673V

c.5017C>G

1 paper

NM_005961.3

p.L1673R

c.5018T>G

7 papers

NM_005961.3

p.L1673P

c.5018T>C

2 papers

NM_005961.3

p.T1678I

c.5033C>T

2 papers

NM_005961.3

p.T1678T

c.5034C>G

1 paper

NM_005961.3

p.L1682L

c.5044C>T

5 papers

NM_005961.3

p.L1682P

c.5045T>C

1 paper

NM_005961.3

p.L1682L

c.5046G>A

2 papers

NM_005961.3

p.P1656P

c.4968G>A

4 papers

NM_005961.3

p.P1656L

c.4967C>T