Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63A
Variant:p.L532R

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.L532R
c.1595T>G
Surrounding Variants
1 paper
NM_014698.3
p.F529fs
c.1585_1586fs
1 paper
NM_014698.3
p.L525_D526del2
c.1573_1577del6
3 papers
NM_014698.3
p.S538L
c.1613C>T
1 paper
NM_014698.3
p.E539D
c.1617G>T
1 paper
NM_014698.3
p.E539D
c.1617G>C
1 paper
NM_014698.3
p.L544L
c.1630T>C
1 paper
NM_014698.3
p.S524T
c.1571G>C
1 paper
NM_014698.3
p.E498_N499delins
c.1493_1495delinsCCC
1 paper
NM_014698.3
p.E490fs
c.1468_1469fs
1 paper
NM_014698.3
p.L489insFs
c.1466dupT
1 paper
NM_014698.3
p.Y484*
c.1452C>G
1 paper
NM_014698.3
p.Y484*
c.1452C>A
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