Varaico: Literature-Extracted Genetic Variants

Gene:MUC1

MUC1

10 papers

RefSeq Summary

This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surf...

Pfam Domains

SEAaa 261–357UCSCSEA domain

Gene Aliases

HGNC Name

mucin 1, cell surface associated

HGNC Previous Symbol

MCKD1

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_001204285.2
p.P134insFs
c.401_402insC
2 papers
NM_001204285.2
p.A135fs
c.403_404fs
2 papers
NM_001204285.2
p.L401_A402insC
c.1201_1205ins3
1 paper
NM_001204285.2
p.F9insFs
c.27dupC
1 paper
NM_002456.6
p.T22T
c.66G>T
1 paper
NM_001204286.1
p.P143insFs
c.428dupC
1 paper
NM_001204286.1
p.P183P
c.549A>C
1 paper
NM_002456.6
p.Q85E
c.253C>G
1 paper
NM_001204295.1
p.V103fs
c.307_308fs
1 paper
NM_001204295.1
p.V103_A106delFs
c.309_316del8
1 paper
NM_001044393.3
p.P152A
c.454C>G
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