Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63C
Variant:p.V176A

TMEM63C

55 papers

Pfam Domains

RSN1_TMaa 38–206UCSCLate exocytosis, associated with Golgi transport
PHM7_cytaa 219–398UCSCCytosolic domain of 10TM putative phosphate transporter
RSN1_7TMaa 409–682UCSCCalcium-dependent channel, 7TM region, putative phosphate

Gene Aliases

HGNC Name

transmembrane protein 63C

HGNC Previous Symbol

C14orf171

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020431.4
p.V176A
c.527T>C
Surrounding Variants
1 paper
NM_020431.4
p.T174T
c.522C>T
1 paper
NM_020431.4
p.N158D
c.472A>G
1 paper
NM_020431.4
p.P156H
c.467C>A
1 paper
NM_020431.4
p.L139I
c.415C>A
1 paper
NM_020431.4
p.R130H
c.389G>A
1 paper
NM_020431.4
p.D128N
c.382G>A
1 paper
NM_020431.4
p.F194L
c.580T>C
1 paper
NM_020431.4
p.F194L
c.582C>A
1 paper
NM_020431.4
p.F194L
c.582C>G
3 papers
NM_020431.4
p.Y195*
c.585C>A
3 papers
NM_020431.4
p.Y195*
c.585C>G
1 paper
NM_020431.4
p.M223I
c.669G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."