Varaico: Literature-Extracted Genetic Variants

Gene:PLCXD1
Variant:p.G99R

PLCXD1

12 papers

RefSeq Summary

This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010...

Pfam Domains

PI-PLC_Xaa 80–230UCSCPI-PLC X 1

Gene Aliases

HGNC Name

phosphatidylinositol specific phospholipase C X domain containing 1

HGNC Alias Symbol

FLJ11323

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018390.4
p.G99R
c.295G>C
Surrounding Variants
1 paper
NM_018390.4
p.G99R
c.295G>A
1 paper
NM_018390.4
p.D104D
c.312C>T
1 paper
NM_018390.4
p.I171T
c.512T>C
1 paper
NM_018390.4
p.L82M
c.244C>A
1 paper
NM_018390.4
p.P29S
c.85C>T
1 paper
NM_018390.4
p.P291R
c.872C>G
1 paper
NM_018390.4
p.I298I
c.894C>A
1 paper
NM_018390.4
p.G305V
c.914G>T
1 paper
NM_018390.4
p.V310insFs
c.928dupG
1 paper
NM_018390.4
p.V310fs
c.928_929fs
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