BPHL

biphenyl hydrolase like

Summary

This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]

Known Variants25 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1761464604	6:3,119,009	G/T	—	uncertain significance
rs1323050825	6:3,119,049	C/A	—	uncertain significance
rs139787458	6:3,127,518	A/G	—	uncertain significance
rs2533448599	6:3,127,605	T/C	—	uncertain significance
rs2231366	6:3,129,280	C/T	—	benign
rs145702455	6:3,129,287	G/A	—	likely benign
rs1761793480	6:3,129,301	C/G	—	uncertain significance
rs138460017	6:3,129,336	C/T	—	uncertain significance
rs553258757	6:3,129,390	G/A	—	uncertain significance
rs749080142	6:3,129,406	C/G	—	uncertain significance
rs774197466	6:3,129,411	G/A	—	uncertain significance
rs771775101	6:3,129,417	A/G	—	uncertain significance
rs1026863406	6:3,129,430	A/G	—	uncertain significance
rs1762045441	6:3,137,722	C/G	—	uncertain significance
rs762056309	6:3,140,647	G/A	—	likely benign
rs533848752	6:3,140,661	G/T	—	uncertain significance
rs761715848	6:3,140,668	T/C	—	uncertain significance
rs756888270	6:3,140,700	C/T	—	uncertain significance
rs35551703	6:3,143,866	G/A	intron variant	—
rs13204642	6:3,144,160	T/C	intron variant	—
rs3799219	6:3,151,103	A/G	downstream gene variant	—
rs201051901	6:3,152,762	C/T	—	uncertain significance
rs369934365	6:3,152,793	A/T	—	uncertain significance
rs1057518044	6:3,154,195	T/G	missense variant	pathogenic
rs1057521250	6:3,154,263	C/T	missense variant	pathogenic

Gene information from NCBI Gene. Variant classifications from ClinVar.