Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63B
Variant:p.H732L

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.H732L
c.2195A>T
Surrounding Variants
1 paper
NM_018426.3
p.V728I
c.2182G>A
1 paper
NM_018426.3
p.H745N
c.2233C>A
1 paper
NM_018426.3
p.T748P
c.2242A>C
1 paper
NM_018426.3
p.V751G
c.2252T>G
4 papers
NM_018426.3
p.F697L
c.2091C>A
4 papers
NM_018426.3
p.F697L
c.2091C>G
4 papers
NM_018426.3
p.F697L
c.2089T>C
1 paper
NM_018426.3
p.L695L
c.2083C>T
1 paper
NM_018426.3
p.P688S
c.2062C>T
1 paper
NM_018426.3
p.S678L
c.2033C>T
1 paper
NM_018426.3
p.K671K
c.2013G>A
6 papers
NM_018426.3
p.R660T
c.1979G>C
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