Varaico: Literature-Extracted Genetic Variants

Gene:MUC13
Variant:p.R503S

MUC13

33 papers

RefSeq Summary

Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OM...

Pfam Domains

SEAaa 214–321UCSCSEA domain

Gene Aliases

HGNC Name

mucin 13, cell surface associated

HGNC Previous Symbol

DRCC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033049.4
p.R503S
c.1509A>T
Surrounding Variants
1 paper
NM_033049.4
p.R503S
c.1509A>C
3 papers
NM_033049.4
p.S502S
c.1506A>C
1 paper
NM_033049.4
p.P508S
c.1522C>T
1 paper
NM_033049.4
p.N476Y
c.1426A>T
1 paper
NM_033049.4
p.L467R
c.1400T>G
1 paper
NM_033049.4
p.E462K
c.1384G>A
1 paper
NM_033049.4
p.T428I
c.1283C>T
1 paper
NM_033049.4
p.D414N
c.1240G>A
1 paper
NM_033049.4
p.F359F
c.1077C>T
1 paper
NM_033049.4
p.N354D
c.1060A>G
1 paper
NM_033049.4
p.S315N
c.944G>A
1 paper
NM_033049.4
p.R277H
c.830G>A
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