Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63C
Variant:p.E599Q

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
2 papers
NM_020431.4
p.E599Q
c.1795G>C
Surrounding Variants
1 paper
NM_020431.4
p.R598R
c.1794T>G
1 paper
NM_020431.4
p.A612A
c.1836G>A
1 paper
NM_020431.4
p.P622A
c.1864C>G
1 paper
NM_020431.4
p.P581L
c.1742C>T
1 paper
NM_020431.4
p.E580K
c.1738G>A
1 paper
NM_020431.4
p.E580*
c.1738G>T
1 paper
NM_020431.4
p.T572N
c.1715C>A
1 paper
NM_020431.4
p.R563H
c.1688G>A
2 papers
NM_020431.4
p.N547_A552Fs
c.1641_1656delinsGGCFs
3 papers
NM_020431.4
p.N547fs
c.1639_1640fs
1 paper
NM_020431.4
p.R636C
c.1906C>T
2 papers
NM_020431.4
p.Y525fs
c.1573_1574fs
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