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.P551L

c.1652C>T

Surrounding Variants

1 paper

NM_001282506.2

p.P551S

c.1651C>T

2 papers

NM_001282506.2

p.V546I

c.1636G>A

1 paper

NM_001282506.2

p.S542R

c.1626T>A

1 paper

NM_001282506.2

p.S542R

c.1626T>G

1 paper

NM_001282506.2

p.S542R

c.1624A>C

1 paper

NM_001282506.2

p.S565F

c.1694C>T

1 paper

NM_001282506.2

p.E531_S534del4

c.1591_1601del12

1 paper

NM_001282506.2

p.S572S

c.1716C>A

1 paper

NM_001282506.2

p.P529L

c.1586C>T

1 paper

NM_001282506.2

p.V525_R527del0

c.1574_1579del6

1 paper

NM_001282506.2

p.A521V

c.1562C>T

3 papers

NM_001282506.2

p.A515fs

c.1543_1544fs