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.T47A

c.139A>G

Surrounding Variants

1 paper

NM_001282506.2

p.M46V

c.136A>G

1 paper

NM_001282506.2

p.D39D

c.117C>T

1 paper

NM_001282506.2

p.T34_M36del3

c.100_107del9

2 papers

NM_001282506.2

p.T64I

c.191C>T

1 paper

NM_001282506.2

p.P71L

c.212C>T

1 paper

NM_001282506.2

p.S94N

c.281G>A

2 papers

NM_001282506.2

p.N101D

c.301A>G

1 paper

NM_001282506.2

p.L105L

c.315G>A

1 paper

NM_001282506.2

p.A107del1

c.319_321delGCC

1 paper

NM_001282506.2

p.I106I

c.318C>T

1 paper

NM_001282506.2

p.S109A

c.325T>G

1 paper

NM_001282506.2

p.E111K

c.331G>A