Varaico: Literature-Extracted Genetic Variants

Gene:MUC21
Variant:p.I104fs

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.I104fs
c.310_311fs
Surrounding Variants
1 paper
NM_001010909.5
p.I104delFs
c.312delA
1 paper
NM_001010909.5
p.I104delins
c.312delinsAGCCACCAACTCTGAGTCCAGCACAACCTCCAGTAGGGCCAGCACT
1 paper
NM_001010909.5
p.S103T
c.308G>C
1 paper
NM_001010909.5
p.A105V
c.314C>T
5 papers
NM_001010909.5
p.V98A
c.293T>C
1 paper
NM_001010909.5
p.S110delFs
c.330delC
1 paper
NM_001010909.5
p.S110S
c.330C>T
1 paper
NM_001010909.5
p.S111fs
c.331_332fs
1 paper
NM_001010909.5
p.T112delFs
c.336delA
1 paper
NM_001010909.5
p.T112T
c.336A>G
1 paper
NM_001010909.5
p.T113fs
c.337_338fs
1 paper
NM_001010909.5
p.G116delFs
c.346delG
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