Varaico: Literature-Extracted Genetic Variants

MUC20

119 papers

RefSeq Summary

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this f...

Pfam Domains

MUC20aa 175–193UCSCMucin-20 protein

MUC20aa 194–212UCSCMucin-20 protein

MUC20aa 213–231UCSCMucin-20 protein

MUC20aa 232–250UCSCMucin-20 protein

MUC20aa 251–269UCSCMucin-20 protein

MUC20aa 270–288UCSCMucin-20 protein

Gene Aliases

HGNC Name

mucin 20, cell surface associated

HGNC Alias Symbols

FLJ14408; KIAA1359

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001282506.2

p.P590L

c.1769C>T

Surrounding Variants

1 paper

NM_001282506.2

p.M592T

c.1775T>C

2 papers

NM_001282506.2

p.A595T

c.1783G>A

1 paper

NM_001282506.2

p.S572S

c.1716C>A

1 paper

NM_001282506.2

p.P611L

c.1832C>T

1 paper

NM_001282506.2

p.S565F

c.1694C>T

2 papers

NM_001282506.2

p.R619*

c.1855C>T

1 paper

NM_001282506.2

p.R619Q

c.1856G>A

1 paper

NM_001282506.2

p.G620R

c.1858G>A

1 paper

NM_001282506.2

p.G620R

c.1858G>C

1 paper

NM_001282506.2

p.T624I

c.1871C>T

1 paper

NM_001282506.2

p.K627N

c.1881G>C

1 paper

NM_001282506.2

p.K627N

c.1881G>T