Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1
Variant:p.D219N

CLPTM1

53 papers

Pfam Domains

CLPTM1aa 57–497UCSCCleft lip and palate transmembrane protein 1 (CLPTM1)

Gene Aliases

HGNC Name

CLPTM1 regulator of GABA type A receptor forward trafficking

HGNC Previous Names

cleft lip and palate associated transmembrane protein 1; CLPTM1, transmembrane protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001294.4
p.D219N
c.655G>A
Surrounding Variants
1 paper
NM_001294.4
p.A226V
c.677C>T
1 paper
NM_001294.4
p.E227G
c.680A>G
1 paper
NM_001294.4
p.P259S
c.775C>T
1 paper
NM_001294.4
p.P261S
c.781C>T
1 paper
NM_001294.4
p.D283N
c.847G>A
1 paper
NM_001294.4
p.D290N
c.868G>A
1 paper
NM_001294.4
p.E296K
c.886G>A
1 paper
NM_001294.4
p.P309P
c.927A>C
1 paper
NM_001294.4
p.A319T
c.955G>A
1 paper
NM_001294.4
p.N328D
c.982A>G
1 paper
NM_001294.4
p.N353S
c.1058A>G
1 paper
NM_001294.4
p.L359V
c.1075C>G
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