Varaico: Literature-Extracted Genetic Variants

MUC19

6 papers

RefSeq Summary

This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of muc...

Pfam Domains

VWDaa 481–619UCSCvon Willebrand factor type D domain

TILaa 721–776UCSCTrypsin Inhibitor like cysteine rich domain

VWDaa 817–969UCSCvon Willebrand factor type D domain

C8aa 1006–1078UCSCC8 domain

VWDaa 1276–1428UCSCvon Willebrand factor type D domain

C8aa 1469–1537UCSCC8 domain

Gene Aliases

HGNC Name

mucin 19, oligomeric (gene/pseudogene)

HGNC Alias Symbol

FLJ35746

Papers

RefSeq ID

Protein change

DNA change

1 paper

NM_173600.2

p.A113V

c.338C>T

1 paper

NM_173600.2

p.C1238*

c.3714C>A

1 paper

NM_173600.2

p.T3406K

c.10217C>A

1 paper

NM_173600.2

p.T3409P

c.10225A>C

1 paper

NM_173600.2

p.V5239ins10

c.15716_15717ins30

1 paper

NM_173600.2

p.T5971insFs

c.17911dupA

1 paper

NM_173600.2

p.T5971fs

c.17911_17912fs

1 paper

NM_173600.2

p.G6303R

c.18907G>A

1 paper

NM_173600.2

p.P7595S

c.22783C>T