Varaico: Literature-Extracted Genetic Variants

Gene:MUC13
Variant:p.P173P

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.P173P
c.519C>A
Surrounding Variants
3 papers
NM_033049.4
p.D184_N185insCTT
c.550_554ins9
1 paper
NM_033049.4
p.N185_C199del15
c.553_596del45
1 paper
NM_033049.4
p.S186_L200del15
c.556_599del45
1 paper
NM_033049.4
p.I220I
c.660T>C
1 paper
NM_033049.4
p.P156R
c.467C>G
1 paper
NM_033049.4
p.S153L
c.458C>T
1 paper
NM_033049.4
p.E137K
c.409G>A
1 paper
NM_033049.4
p.S62_T67del6
c.184_200del18
1 paper
NM_033049.4
p.S62_T67del0
c.186_200del15
1 paper
NM_033049.4
p.P64L
c.191C>T
2 papers
NM_033049.4
p.P61_S62ins0
c.182_184dupCTT
3 papers
NM_033049.4
p.S62ins1
c.184_185insCTT
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