Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63B
Variant:p.R82P

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
2 papers
NM_018426.3
p.R82P
c.245G>C
Surrounding Variants
1 paper
NM_018426.3
p.R83Q
c.248G>A
1 paper
NM_018426.3
p.Q84E
c.250C>G
1 paper
NM_018426.3
p.Q91Q
c.273G>A
1 paper
NM_018426.3
p.D77N
c.229G>A
1 paper
NM_018426.3
p.G70R
c.208G>A
1 paper
NM_018426.3
p.G70R
c.208G>C
1 paper
NM_018426.3
p.L53F
c.157C>T
1 paper
NM_018426.3
p.D48A
c.143A>C
11 papers
NM_018426.3
p.V44M
c.130G>A
1 paper
NM_018426.3
p.T8A
c.22A>G
1 paper
NM_018426.3
p.R105Q
c.314G>A
1 paper
NM_018426.3
p.T110fs
c.328_329fs
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