Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63A
Variant:p.D172Splc

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.D172Splc
c.514+2T>C
Surrounding Variants
1 paper
NM_014698.3
p.D172Splc
c.514+1G>A
8 papers
NM_014698.3
p.G168E
c.503G>A
1 paper
NM_014698.3
p.S141fs
c.421_422fs
1 paper
NM_014698.3
p.L140insFs
c.419dupT
1 paper
NM_014698.3
p.H138D
c.412C>G
1 paper
NM_014698.3
p.Q187K
c.559C>A
1 paper
NM_014698.3
p.Q187_T188insFs
c.561_562ins4
1 paper
NM_014698.3
p.T188insFs
c.563_564ins4
2 papers
NM_014698.3
p.N190H
c.568A>C
1 paper
NM_014698.3
p.W194S
c.581G>C
1 paper
NM_014698.3
p.I202T
c.605T>C
2 papers
NM_014698.3
p.L206F
c.616C>T
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