Varaico: Literature-Extracted Genetic Variants

Gene:TPCN1
Variant:p.S754F

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
Selected Variant
1 paper
NM_017901.6
p.S754F
c.2261C>T
Surrounding Variants
1 paper
NM_017901.6
p.R731W
c.2191C>T
1 paper
NM_017901.6
p.G707C
c.2119G>T
2 papers
NM_017901.6
p.V691I
c.2071G>A
1 paper
NM_017901.6
p.W780fs
c.2338_2339fs
1 paper
NM_017901.6
p.A785T
c.2353G>A
1 paper
NM_017901.6
p.P806T
c.2416C>A
1 paper
NM_017901.6
p.T814T
c.2442C>T
1 paper
NM_017901.6
p.G623G
c.1869C>T
1 paper
NM_017901.6
p.S580P
c.1738T>C
1 paper
NM_017901.6
p.L564P
c.1691T>C
1 paper
NM_017901.6
p.E551K
c.1651G>A
1 paper
NM_017901.6
p.P540A
c.1618C>G
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