Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63B
Variant:p.M593V

TMEM63B

62 papers

Pfam Domains

RSN1_TMaa 105–226UCSCLate exocytosis, associated with Golgi transport
PHM7_cytaa 239–422UCSCCytosolic domain of 10TM putative phosphate transporter
RSN1_7TMaa 433–706UCSCCalcium-dependent channel, 7TM region, putative phosphate

Gene Aliases

HGNC Name

transmembrane protein 63B

HGNC Previous Symbol

C6orf110

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018426.3
p.M593V
c.1777A>G
Surrounding Variants
1 paper
NM_018426.3
p.D584A
c.1751A>C
7 papers
NM_018426.3
p.G580S
c.1738G>A
8 papers
NM_018426.3
p.G580C
c.1738G>T
1 paper
NM_018426.3
p.R612_H613Splc
c.1837-2A>G
5 papers
NM_018426.3
p.Q619R
c.1856A>G
1 paper
NM_018426.3
p.A625T
c.1873G>A
1 paper
NM_018426.3
p.W626*
c.1877G>A
1 paper
NM_018426.3
p.W626*
c.1878G>A
1 paper
NM_018426.3
p.T632M
c.1895C>T
1 paper
NM_018426.3
p.L550W
c.1649T>G
1 paper
NM_018426.3
p.S536T
c.1607G>C
1 paper
NM_018426.3
p.I523S
c.1568T>G
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