Varaico: Literature-Extracted Genetic Variants

Gene:MUC21
Variant:p.A342V

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.A342V
c.1025C>T
Surrounding Variants
1 paper
NM_001010909.5
p.A342A
c.1026C>T
5 papers
NM_001010909.5
p.E349D
c.1047G>C
5 papers
NM_001010909.5
p.E349D
c.1047G>T
1 paper
NM_001010909.5
p.E334G
c.1001A>G
1 paper
NM_001010909.5
p.S328N
c.983G>A
2 papers
NM_001010909.5
p.S328G
c.982A>G
1 paper
NM_001010909.5
p.S358G
c.1072A>G
2 papers
NM_001010909.5
p.S358N
c.1073G>A
2 papers
NM_001010909.5
p.T323I
c.968C>T
3 papers
NM_001010909.5
p.T323A
c.967A>G
3 papers
NM_001010909.5
p.G364E
c.1091G>A
2 papers
NM_001010909.5
p.D319E
c.957C>A
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