Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63A
Variant:p.I780S

TMEM63A

98 papers

Pfam Domains

RSN1_TMaa 50–214UCSCLate exocytosis, associated with Golgi transport
PHM7_cytaa 227–410UCSCCytosolic domain of 10TM putative phosphate transporter
RSN1_7TMaa 421–693UCSCCalcium-dependent channel, 7TM region, putative phosphate

Gene Aliases

HGNC Name

transmembrane protein 63A

HGNC Previous Symbol

KIAA0792

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014698.3
p.I780S
c.2339T>G
Surrounding Variants
1 paper
NM_014698.3
p.Q774_Q775ins0
c.2320_2325dup6
6 papers
NM_014698.3
p.Q775del1
c.2323_2324delCTG
2 papers
NM_014698.3
p.Q775*
c.2323C>T
1 paper
NM_014698.3
p.Q770L
c.2309A>T
1 paper
NM_014698.3
p.L767M
c.2299C>A
2 papers
NM_014698.3
p.R755Q
c.2264G>A
1 paper
NM_014698.3
p.Q805L
c.2414A>T
2 papers
NM_014698.3
p.R755W
c.2263C>T
1 paper
NM_014698.3
p.T750_P751Splc
c.2250+282G>T
2 papers
NM_014698.3
p.P747S
c.2239C>T
1 paper
NM_014698.3
p.P725A
c.2173C>G
1 paper
NM_014698.3
p.F717S
c.2150T>C
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