Varaico: Literature-Extracted Genetic Variants

Gene:TPCN1
Variant:p.S26A

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.S26A
c.76T>G
Surrounding Variants
1 paper
NM_017901.6
p.S26C
c.77C>G
1 paper
NM_017901.6
p.G28insFs
c.83dupG
1 paper
NM_017901.6
p.Q31R
c.92A>G
2 papers
NM_017901.6
p.E17delFs
c.49delG
1 paper
NM_017901.6
p.L11L
c.33C>G
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
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