Varaico: Literature-Extracted Genetic Variants

Gene:MUC1
Variant:p.P183P

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
Selected Variant
1 paper
NM_001204286.1
p.P183P
c.549A>C
Surrounding Variants
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
2 papers
NM_001204285.2
p.L401_A402insC
c.1201_1205ins3
1 paper
NM_001044393.3
p.P152A
c.454C>G
2 papers
NM_001204285.2
p.A135fs
c.403_404fs
3 papers
NM_001204285.2
p.P134insFs
c.401_402insC
NM_001204286.1
p.P143insFs
c.428dupC
1 paper
NM_002456.6
p.T22T
c.66G>T
1 paper
NM_001204285.2
p.F9insFs
c.27dupC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."