Varaico: Literature-Extracted Genetic Variants

Gene:MUC21
Variant:p.S126R

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
1 paper
NM_001010909.5
p.S126R
c.378C>G
Surrounding Variants
1 paper
NM_001010909.5
p.S126R
c.378C>A
1 paper
NM_001010909.5
p.S126R
c.376A>C
1 paper
NM_001010909.5
p.S126C
c.376A>T
1 paper
NM_001010909.5
p.P128T
c.382C>A
1 paper
NM_001010909.5
p.P128A
c.382C>G
2 papers
NM_001010909.5
p.P128L
c.383C>T
1 paper
NM_001010909.5
p.E124D
c.372G>C
1 paper
NM_001010909.5
p.E124D
c.372G>T
1 paper
NM_001010909.5
p.A132V
c.395C>T
1 paper
NM_001010909.5
p.S133G
c.397A>G
1 paper
NM_001010909.5
p.A120V
c.359C>T
3 papers
NM_001010909.5
p.A135ins15
c.403_404ins45
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