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

1–12 of 131 variants

9 papers

NM_001282506.2

p.S671C

c.2012C>G

8 papers

NM_001282506.2

p.C3S

c.7T>A

8 papers

NM_001282506.2

p.C3S

c.8G>C

7 papers

NM_001282506.2

p.T447M

c.1340C>T

5 papers

NM_001282506.2

p.R136G

c.406A>G

5 papers

NM_001282506.2

p.R136K

c.407G>A

5 papers

NM_001282506.2

p.G391S

c.1171G>A

5 papers

NM_001282506.2

p.D493H

c.1477G>C

5 papers

NM_001282506.2

p.P590L

c.1769C>T

4 papers

NM_001282506.2

p.S148I

c.443G>T

4 papers

NM_001282506.2

p.A344fs

c.1030_1031fs

4 papers

NM_001282506.2

p.T442I

c.1325C>T