Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1
Variant:p.D378Splc

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.D378Splc
c.1133-520T>G
Surrounding Variants
1 paper
NM_001294.4
p.D378Splc
c.1133-18C>G
2 papers
NM_001294.4
p.S384S
c.1152C>T
1 paper
NM_001294.4
p.F397V
c.1189T>G
1 paper
NM_001294.4
p.R454H
c.1361G>A
1 paper
NM_001294.4
p.D459N
c.1375G>A
1 paper
NM_001294.4
p.D473_M474Splc
c.1419+7G>A
1 paper
NM_001294.4
p.Y478C
c.1433A>G
1 paper
NM_001294.4
p.L486L
c.1458C>T
1 paper
NM_001294.4
p.S368R
c.1104T>A
1 paper
NM_001294.4
p.S368R
c.1104T>G
1 paper
NM_001294.4
p.S368R
c.1102A>C
1 paper
NM_001294.4
p.L359V
c.1075C>G
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