Varaico: Literature-Extracted Genetic Variants

Gene:MUC13
Variant:p.S315N

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.S315N
c.944G>A
Surrounding Variants
1 paper
NM_033049.4
p.R277H
c.830G>A
1 paper
NM_033049.4
p.R277C
c.829C>T
1 paper
NM_033049.4
p.N354D
c.1060A>G
1 paper
NM_033049.4
p.F359F
c.1077C>T
1 paper
NM_033049.4
p.D414N
c.1240G>A
1 paper
NM_033049.4
p.T428I
c.1283C>T
1 paper
NM_033049.4
p.I220I
c.660T>C
1 paper
NM_033049.4
p.S186_L200del15
c.556_599del45
1 paper
NM_033049.4
p.N185_C199del15
c.553_596del45
3 papers
NM_033049.4
p.D184_N185insCTT
c.550_554ins9
1 paper
NM_033049.4
p.P173P
c.519C>A
1 paper
NM_033049.4
p.E462K
c.1384G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."