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.R136G

c.406A>G

Surrounding Variants

1 paper

NM_001282506.2

p.R136fs

c.406_407fs

1 paper

NM_001282506.2

p.R136delFs

c.407delG

2 papers

NM_001282506.2

p.R136delins

c.406_407delinsGA

5 papers

NM_001282506.2

p.R136K

c.407G>A

1 paper

NM_001282506.2

p.G132V

c.395G>T

1 paper

NM_001282506.2

p.T142S

c.424A>T

4 papers

NM_001282506.2

p.S148I

c.443G>T

1 paper

NM_001282506.2

p.K153N

c.459G>C

1 paper

NM_001282506.2

p.K153N

c.459G>T

1 paper

NM_001282506.2

p.L160F

c.480G>C

1 paper

NM_001282506.2

p.E111K

c.331G>A

1 paper

NM_001282506.2

p.S109A

c.325T>G