Varaico: Literature-Extracted Genetic Variants

Gene:TPCN1

TPCN1

83 papers

RefSeq Summary

Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (...

Pfam Domains

Ion_transaa 37–263UCSCIon transport protein
Ion_transaa 372–628UCSCIon transport protein

Gene Aliases

HGNC Name

two pore segment channel 1

HGNC Alias Symbols

KIAA1169; FLJ20612; TPC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
7 papers
NM_017901.6
p.L273P
c.818T>C
2 papers
NM_017901.6
p.E17delFs
c.49delG
2 papers
NM_017901.6
p.A49del1
c.145_147delGCC
2 papers
NM_017901.6
p.L145_A147del3
c.433_440del9
2 papers
NM_017901.6
p.F299V
c.895T>G
2 papers
NM_017901.6
p.V691I
c.2071G>A
1 paper
NM_017901.6
p.M1I
c.3G>A
1 paper
NM_017901.6
p.M1I
c.3G>C
1 paper
NM_017901.6
p.M1I
c.3G>T
1 paper
NM_017901.6
p.L11L
c.33C>G
1 paper
NM_017901.6
p.S26A
c.76T>G
1 paper
NM_017901.6
p.S26C
c.77C>G
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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."