PHF2

PHD finger protein 2

Summary

This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]

Known Variants107 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1359388349	9:96,339,071	G/A	—	uncertain significance
rs10821163	9:96,343,060	G/C	regulatory region variant	—
rs7041943	9:96,349,307	C/G	—	—
rs10761240	9:96,361,922	G/A	intron variant	—
rs2895249	9:96,365,753	G/A	intron variant	—
rs10992800	9:96,373,818	G/A	intron variant	—
rs2989754	9:96,376,157	G/A	intron variant	—
rs62573993	9:96,385,086	G/C	intron variant	—
rs10761244	9:96,387,592	C/T	intron variant	—
rs12002044	9:96,389,861	C/T	—	—
rs10992813	9:96,392,371	G/A	intron variant	—
rs7044244	9:96,397,689	G/A	intron variant	—
rs368630398	9:96,398,704	C/T	—	uncertain significance
rs373915273	9:96,398,722	G/T	—	uncertain significance
rs141393410	9:96,398,752	G/A	—	uncertain significance
rs1308250891	9:96,398,795	G/A	—	uncertain significance
rs77405940	9:96,398,814	T/A	—	benign
rs10115715	9:96,401,805	A/G	—	—
rs7851271	9:96,407,848	A/C	—	—
rs7038310	9:96,407,920	C/T	—	benign
rs760648436	9:96,407,931	G/A	—	uncertain significance
rs1188481995	9:96,407,936	C/T	—	benign
rs35505758	9:96,407,953	G/A	—	benign
rs1826245153	9:96,407,961	A/G	—	uncertain significance
rs9695734	9:96,407,983	C/T	—	benign
rs138199711	9:96,408,010	C/T	—	likely benign
rs375528061	9:96,411,396	G/T	—	uncertain significance
rs2490058875	9:96,411,448	C/T	—	uncertain significance
rs1294608926	9:96,411,455	G/A	—	uncertain significance
rs202018179	9:96,411,466	G/A	—	uncertain significance
rs1176722964	9:96,415,576	T/C	—	uncertain significance
rs79775104	9:96,415,657	G/A	—	likely benign
rs758231547	9:96,416,724	G/A	—	likely benign
rs139132481	9:96,416,730	G/A	—	benign
rs771361962	9:96,416,759	G/T	—	uncertain significance
rs1469956820	9:96,416,803	G/A	—	uncertain significance
rs2490081459	9:96,418,799	C/G	—	uncertain significance
rs956429427	9:96,418,816	G/C	—	uncertain significance
rs756410471	9:96,418,836	C/T	—	uncertain significance
rs41276190	9:96,420,459	C/T	—	uncertain significance
rs10761251	9:96,421,546	T/A	intron variant	—
rs10992836	9:96,422,420	T/C	intron variant	—
rs372249971	9:96,422,477	G/A	—	uncertain significance
rs1826536012	9:96,422,484	A/G	—	uncertain significance
rs10992837	9:96,422,489	G/A	—	benign
rs141328143	9:96,422,496	C/T	—	uncertain significance
rs146063352	9:96,422,583	C/T	—	likely benign
rs1207149405	9:96,422,637	A/C	—	uncertain significance
rs2490094554	9:96,422,667	C/A	—	uncertain significance
rs774348404	9:96,422,723	G/A	—	uncertain significance
rs758703497	9:96,422,757	C/T	—	uncertain significance
rs2490095417	9:96,422,768	A/G	—	uncertain significance
rs1489345981	9:96,422,775	A/G	—	uncertain significance
rs73523907	9:96,422,788	C/T	—	benign
rs10761252	9:96,424,301	A/G	intron variant	—
rs202070511	9:96,425,815	C/G	—	uncertain significance
rs199708981	9:96,425,867	A/G	—	likely benign
rs1336386241	9:96,425,901	A/T	—	uncertain significance
rs2490108901	9:96,425,903	C/G	—	conflicting classifications of pathogenicity
rs138464551	9:96,425,915	C/T	—	likely benign
rs149460994	9:96,427,984	C/A	—	uncertain significance
rs1413866075	9:96,427,988	C/T	—	uncertain significance
rs1826664969	9:96,428,011	G/A	—	uncertain significance
rs143849629	9:96,428,042	A/C	—	uncertain significance
rs2490117885	9:96,428,121	A/C	—	uncertain significance
rs745947229	9:96,428,129	C/G	—	uncertain significance
rs764439040	9:96,428,311	C/T	—	uncertain significance
rs375200860	9:96,428,319	A/G	—	uncertain significance
rs116444936	9:96,428,329	C/T	—	likely benign
rs34289742	9:96,428,330	G/A	—	benign
rs139699684	9:96,428,335	C/T	—	uncertain significance
rs79708182	9:96,429,388	G/A	—	benign
rs751699994	9:96,429,397	C/G	—	uncertain significance
rs1016745381	9:96,429,428	A/G	—	uncertain significance
rs776125722	9:96,429,444	G/A	—	uncertain significance
rs759849605	9:96,429,500	G/A	—	uncertain significance
rs138856483	9:96,429,519	G/A	—	likely benign
rs10821196	9:96,433,396	G/C	—	—
rs140677384	9:96,435,876	G/A	—	benign
rs199537702	9:96,435,939	C/T	—	likely benign
rs1826851283	9:96,435,962	G/T	—	uncertain significance
rs2490164653	9:96,435,986	G/A	—	uncertain significance
rs769947880	9:96,436,024	G/T	—	uncertain significance
rs41276200	9:96,436,037	G/A	—	benign
rs2490165044	9:96,436,039	G/A	—	uncertain significance
rs2490165240	9:96,436,077	T/G	—	uncertain significance
rs193921057	9:96,436,081	G/A	—	uncertain significance
rs781374042	9:96,436,113	C/T	—	likely benign
rs10992853	9:96,436,925	T/C	—	—
rs34854229	9:96,437,261	G/A	—	benign
rs374623814	9:96,437,979	G/A	—	uncertain significance
rs1826897308	9:96,437,988	C/T	—	likely pathogenic
rs774927636	9:96,438,036	G/A	—	uncertain significance
rs761181154	9:96,438,043	C/T	—	uncertain significance
rs1826915851	9:96,438,889	G/A	—	uncertain significance
rs773517311	9:96,439,006	C/T	—	uncertain significance
rs10992855	9:96,439,007	G/T	—	benign
rs10992856	9:96,439,019	C/A	—	likely benign
rs201835809	9:96,439,102	G/T	—	uncertain significance
rs767186892	9:96,439,105	T/G	—	uncertain significance

Showing 100 of 107 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.