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.T407I

c.1220C>T

Surrounding Variants

1 paper

NM_001282506.2

p.D405D

c.1215C>T

1 paper

NM_001282506.2

p.S399fs

c.1195_1196fs

1 paper

NM_001282506.2

p.P398P

c.1194C>G

2 papers

NM_001282506.2

p.T397fs

c.1189_1190fs

2 papers

NM_001282506.2

p.T397delFs

c.1190delC

1 paper

NM_001282506.2

p.V421A

c.1262T>C

1 paper

NM_001282506.2

p.P392L

c.1175C>T

1 paper

NM_001282506.2

p.G391D

c.1172G>A

5 papers

NM_001282506.2

p.G391S

c.1171G>A

1 paper

NM_001282506.2

p.S389S

c.1167C>T

1 paper

NM_001282506.2

p.S425S

c.1275C>T

1 paper

NM_001282506.2

p.A382V

c.1145C>T