Varaico: Literature-Extracted Genetic Variants

Gene:MUC21
Variant:p.S430delFs

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.S430delFs
c.1289delG
Surrounding Variants
1 paper
NM_001010909.5
p.S430fs
c.1288_1289fs
2 papers
NM_001010909.5
p.N433S
c.1298A>G
1 paper
NM_001010909.5
p.T434P
c.1300A>C
1 paper
NM_001010909.5
p.E424D
c.1272G>C
1 paper
NM_001010909.5
p.E424D
c.1272G>T
1 paper
NM_001010909.5
p.S438T
c.1312T>A
2 papers
NM_001010909.5
p.A420V
c.1259C>T
1 paper
NM_001010909.5
p.T419T
c.1257T>A
3 papers
NM_001010909.5
p.E409D
c.1227G>C
3 papers
NM_001010909.5
p.E409D
c.1227G>T
3 papers
NM_001010909.5
p.S403N
c.1208G>A
2 papers
NM_001010909.5
p.G401E
c.1202G>A
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