Varaico: Literature-Extracted Genetic Variants

Gene:TPCN1
Variant:p.F299V

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.F299V
c.895T>G
Surrounding Variants
7 papers
NM_017901.6
p.L273P
c.818T>C
1 paper
NM_017901.6
p.L349_S351del3
c.1045_1052del9
1 paper
NM_017901.6
p.Y360*
c.1080C>A
1 paper
NM_017901.6
p.F369S
c.1106T>C
1 paper
NM_017901.6
p.R379H
c.1136G>A
1 paper
NM_017901.6
p.I225V
c.673A>G
1 paper
NM_017901.6
p.R223Q
c.668G>A
1 paper
NM_017901.6
p.N221N
c.663C>T
1 paper
NM_017901.6
p.N221D
c.661A>G
1 paper
NM_017901.6
p.Y400F
c.1199A>T
1 paper
NM_017901.6
p.K409Q
c.1225A>C
1 paper
NM_017901.6
p.R219Q
c.656G>A
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