Varaico: Literature-Extracted Genetic Variants

Gene:TPD52L1

TPD52L1

61 papers

RefSeq Summary

This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It al...

Pfam Domains

TPD52aa 31–151UCSCTumour protein D52 family

Gene Aliases

HGNC Name

TPD52 like 1

HGNC Alias Symbols

D53; hD53; TPD53

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
3 papers
NM_003287.4
p.E19K
c.55G>A
1 paper
NM_003287.4
p.M1I
c.3G>T
1 paper
NM_003287.4
p.E2V
c.5A>T
1 paper
NM_003287.4
p.T11A
c.31A>G
1 paper
NM_003287.4
p.L14M
c.40T>A
1 paper
NM_003287.4
p.Q15L
c.44A>T
1 paper
NM_003287.4
p.E19A
c.56A>C
1 paper
NM_003287.4
p.V22E
c.65T>A
1 paper
NM_003287.4
p.A25A
c.75T>A
1 paper
NM_003287.4
p.F27I
c.79T>A
1 paper
NM_003287.4
p.F27_S28del1
c.81_83delCTC
1 paper
NM_003287.4
p.S29del1
c.85_86delAGC
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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."