Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63C
Variant:p.H294P

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.H294P
c.881A>C
Surrounding Variants
1 paper
NM_020431.4
p.S248Fs
c.744delinsGGCFs
1 paper
NM_020431.4
p.E322K
c.964G>A
1 paper
NM_020431.4
p.T325T
c.975G>A
2 papers
NM_020431.4
p.R334H
c.1001G>A
1 paper
NM_020431.4
p.P336L
c.1007C>T
1 paper
NM_020431.4
p.M223I
c.669G>A
1 paper
NM_020431.4
p.M223I
c.669G>C
1 paper
NM_020431.4
p.M223I
c.669G>T
1 paper
NM_020431.4
p.V367M
c.1099G>A
1 paper
NM_020431.4
p.Q371*
c.1111C>T
1 paper
NM_020431.4
p.T376I
c.1127C>T
3 papers
NM_020431.4
p.Y195*
c.585C>A
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