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.A512T

c.1534G>A

Surrounding Variants

3 papers

NM_001282506.2

p.G514R

c.1540G>A

3 papers

NM_001282506.2

p.G514R

c.1540G>C

3 papers

NM_001282506.2

p.A515fs

c.1543_1544fs

3 papers

NM_001282506.2

p.A515delFs

c.1544delC

1 paper

NM_001282506.2

p.E507_R508del1

c.1521_1523delAAG

1 paper

NM_001282506.2

p.A505T

c.1513G>A

1 paper

NM_001282506.2

p.A521V

c.1562C>T

1 paper

NM_001282506.2

p.V525_R527del0

c.1574_1579del6

1 paper

NM_001282506.2

p.V496I

c.1486G>A

1 paper

NM_001282506.2

p.P529L

c.1586C>T

1 paper

NM_001282506.2

p.E531_S534del4

c.1591_1601del12

5 papers

NM_001282506.2

p.D493H

c.1477G>C