Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63C

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
1–12 of 68 variants
3 papers
NM_020431.4
p.Y195*
c.585C>A
3 papers
NM_020431.4
p.Y195*
c.585C>G
3 papers
NM_020431.4
p.W406fs
c.1216_1217fs
3 papers
NM_020431.4
p.N547fs
c.1639_1640fs
2 papers
NM_020431.4
p.R334H
c.1001G>A
2 papers
NM_020431.4
p.R402C
c.1204C>T
2 papers
NM_020431.4
p.W406delFs
c.1216delT
2 papers
NM_020431.4
p.Y524insFs
c.1572dupC
2 papers
NM_020431.4
p.Y525fs
c.1573_1574fs
2 papers
NM_020431.4
p.N547_A552Fs
c.1641_1656delinsGGCFs
2 papers
NM_020431.4
p.E599Q
c.1795G>C
1 paper
NM_020431.4
p.G37C
c.109G>T
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