Varaico: Literature-Extracted Genetic Variants

Gene:MUC21
Variant:p.R216S

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
4 papers
NM_001010909.5
p.R216S
c.648A>C
Surrounding Variants
4 papers
NM_001010909.5
p.R216S
c.648A>T
1 paper
NM_001010909.5
p.T217insFs
c.650_651ins8
1 paper
NM_001010909.5
p.T217M
c.650C>T
1 paper
NM_001010909.5
p.N220D
c.658A>G
1 paper
NM_001010909.5
p.N220S
c.659A>G
1 paper
NM_001010909.5
p.N220I
c.659A>T
1 paper
NM_001010909.5
p.A222fs
c.664_665fs
1 paper
NM_001010909.5
p.A222delFs
c.665delC
1 paper
NM_001010909.5
p.A222fs
c.664_665fs
1 paper
NM_001010909.5
p.G223S
c.667G>A
1 paper
NM_001010909.5
p.T209A
c.625A>G
1 paper
NM_001010909.5
p.A207D
c.620C>A
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