Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63A
Variant:p.Y559H

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
7 papers
NM_014698.3
p.Y559H
c.1675T>C
Surrounding Variants
1 paper
NM_014698.3
p.I561_A562ins4
c.1681_1685ins12
1 paper
NM_014698.3
p.S563_A564ins4
c.1687_1691ins12
8 papers
NM_014698.3
p.G553V
c.1658G>T
1 paper
NM_014698.3
p.G553D
c.1658G>A
10 papers
NM_014698.3
p.G567S
c.1699G>A
1 paper
NM_014698.3
p.E571K
c.1711G>A
1 paper
NM_014698.3
p.E545E
c.1635G>A
1 paper
NM_014698.3
p.P576T
c.1726C>A
1 paper
NM_014698.3
p.R584C
c.1750C>T
1 paper
NM_014698.3
p.Q599_N600Splc
c.1798-128C>T
1 paper
NM_014698.3
p.E606D
c.1818G>T
3 papers
NM_014698.3
p.V622M
c.1864G>A
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