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

1 paper

NM_001282506.2

p.A192V

c.575C>T

Surrounding Variants

1 paper

NM_001282506.2

p.S196S

c.588C>T

1 paper

NM_001282506.2

p.S199S

c.597C>T

1 paper

NM_001282506.2

p.G201S

c.601G>A

3 papers

NM_001282506.2

p.S182G

c.544A>G

1 paper

NM_001282506.2

p.S179fs

c.535_536fs

1 paper

NM_001282506.2

p.A178fs

c.532_533fs

1 paper

NM_001282506.2

p.S177S

c.531C>T

2 papers

NM_001282506.2

p.S177_A178delFs

c.531_534del4

1 paper

NM_001282506.2

p.A211S

c.631G>T

1 paper

NM_001282506.2

p.A211V

c.632C>T

1 paper

NM_001282506.2

p.G171S

c.511G>A

2 papers

NM_001282506.2

p.G220S

c.658G>A