Varaico: Literature-Extracted Genetic Variants

Gene:MUC21
Variant:p.D139E

MUC21

102 papers

RefSeq Summary

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

Pfam Domains

Epiglycanin_TRaa 17–77UCSCTandem-repeating region of mucin, epiglycanin-like
Epiglycanin_TRaa 76–138UCSCTandem-repeating region of mucin, epiglycanin-like
Epiglycanin_TRaa 122–181UCSCTandem-repeating region of mucin, epiglycanin-like
Epiglycanin_TRaa 166–226UCSCTandem-repeating region of mucin, epiglycanin-like
Epiglycanin_TRaa 212–272UCSCTandem-repeating region of mucin, epiglycanin-like
Epiglycanin_TRaa 316–376UCSCTandem-repeating region of mucin, epiglycanin-like

Gene Aliases

HGNC Name

mucin 21, cell surface associated

HGNC Previous Symbol

C6orf205

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001010909.5
p.D139E
c.417C>A
Surrounding Variants
3 papers
NM_001010909.5
p.D139E
c.417C>G
1 paper
NM_001010909.5
p.T142fs
c.424_425fs
1 paper
NM_001010909.5
p.T142_T143ins6
c.426_427ins18
1 paper
NM_001010909.5
p.T142Fs
c.426delinsATGTGFs
1 paper
NM_001010909.5
p.T143fs
c.427_428fs
2 papers
NM_001010909.5
p.T143ins9
c.428_429ins27
1 paper
NM_001010909.5
p.A135T
c.403G>A
3 papers
NM_001010909.5
p.A135ins15
c.403_404ins45
1 paper
NM_001010909.5
p.S133G
c.397A>G
1 paper
NM_001010909.5
p.A132V
c.395C>T
1 paper
NM_001010909.5
p.D154_E169del0
c.462_506del45
1 paper
NM_001010909.5
p.A150D
c.449C>A
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."