Varaico: Literature-Extracted Genetic Variants

Gene:TPCN1
Variant:p.A49del1

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
2 papers
NM_017901.6
p.A49del1
c.145_147delGCC
Surrounding Variants
1 paper
NM_017901.6
p.G39delFs
c.117delC
1 paper
NM_017901.6
p.P63T
c.187C>A
1 paper
NM_017901.6
p.N70S
c.209A>G
1 paper
NM_017901.6
p.A75G
c.224C>G
1 paper
NM_017901.6
p.Q79L
c.236A>T
1 paper
NM_017901.6
p.L117del1
c.349_351delCTG
2 papers
NM_017901.6
p.L145_A147del3
c.433_440del9
1 paper
NM_017901.6
p.V151I
c.451G>A
1 paper
NM_017901.6
p.T177S
c.529A>T
1 paper
NM_017901.6
p.R199Q
c.596G>A
1 paper
NM_017901.6
p.A203T
c.607G>A
1 paper
NM_017901.6
p.R205C
c.613C>T
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