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

2 papers

NM_001282506.2

p.G315S

c.943G>A

Surrounding Variants

1 paper

NM_001282506.2

p.V319_T321del3

c.955_962del9

1 paper

NM_001282506.2

p.V319_T321del0

c.956_961del6

2 papers

NM_001282506.2

p.S309G

c.925A>G

1 paper

NM_001282506.2

p.P322A

c.964C>G

2 papers

NM_001282506.2

p.A306P

c.916G>C

1 paper

NM_001282506.2

p.D295N

c.883G>A

1 paper

NM_001282506.2

p.S342fs

c.1024_1025fs

1 paper

NM_001282506.2

p.A287P

c.859G>C

1 paper

NM_001282506.2

p.R343Q

c.1028G>A

4 papers

NM_001282506.2

p.A344fs

c.1030_1031fs

3 papers

NM_001282506.2

p.A344delFs

c.1031delC

2 papers

NM_001282506.2

p.L354P

c.1061T>C