Varaico: Literature-Extracted Genetic Variants

Gene:MUC12
Variant:p.T18delins

MUC12

259 papers

RefSeq Summary

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

Pfam Domains

SEAaa 5171–5272UCSCSEA domain

Gene Aliases

HGNC Name

mucin 12, cell surface associated

HGNC Previous Symbol

MUC11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001164462.2
p.T18delins
c.52delinsACTG
Surrounding Variants
1 paper
NM_001164462.2
p.T18ins1
c.53_54insCTG
10 papers
NM_001164462.2
p.V17I
c.49G>A
13 papers
NM_001164462.2
p.V20L
c.58G>C
13 papers
NM_001164462.2
p.V20L
c.58G>T
1 paper
NM_001164462.2
p.C14C
c.42C>T
2 papers
NM_001164462.2
p.P22P
c.66A>G
1 paper
NM_001164462.2
p.R12Q
c.35G>A
1 paper
NM_001164462.2
p.T8M
c.23C>T
1 paper
NM_001164462.2
p.G23Splc
c.67+48A>C
1 paper
NM_001164462.2
p.G23Splc
c.67+57T>C
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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."