Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63A
Variant:p.T40P

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.T40P
c.118A>C
Surrounding Variants
1 paper
NM_014698.3
p.Q43*
c.127C>T
1 paper
NM_014698.3
p.G44R
c.130G>A
1 paper
NM_014698.3
p.V45D
c.134T>A
1 paper
NM_014698.3
p.G48D
c.143G>A
1 paper
NM_014698.3
p.M1I
c.3G>C
1 paper
NM_014698.3
p.F68L
c.202T>C
1 paper
NM_014698.3
p.F68L
c.204T>G
1 paper
NM_014698.3
p.F68L
c.204T>A
1 paper
NM_014698.3
p.R74*
c.220A>T
1 paper
NM_014698.3
p.W76R
c.226T>C
1 paper
NM_014698.3
p.W76R
c.226T>A
2 papers
NM_014698.3
p.L111_G112Splc
c.334-2A>G
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