Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63B
Variant:p.I523S

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.I523S
c.1568T>G
Surrounding Variants
1 paper
NM_018426.3
p.S536T
c.1607G>C
1 paper
NM_018426.3
p.R507Splc
c.1520+1G>A
1 paper
NM_018426.3
p.F500V
c.1498T>G
1 paper
NM_018426.3
p.L550W
c.1649T>G
8 papers
NM_018426.3
p.T481N
c.1442C>A
5 papers
NM_018426.3
p.I475del1
c.1423_1424delATC
4 papers
NM_018426.3
p.V463I
c.1387G>A
5 papers
NM_018426.3
p.D459E
c.1377C>A
5 papers
NM_018426.3
p.D459E
c.1377C>G
5 papers
NM_018426.3
p.R433H
c.1298G>A
1 paper
NM_018426.3
p.I425fs
c.1273_1274fs
1 paper
NM_018426.3
p.I418M
c.1254C>G
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