PALM2AKAP2

PALM2 and AKAP2 fusion

Summary

This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]

Known Variants119 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7863805	9:112,497,111	C/G	—	—
rs4978848	9:112,521,126	G/C	downstream gene variant	—
rs1327796	9:112,526,289	C/G	intron variant	—
rs145552511	9:112,542,803	A/G	—	uncertain significance
rs10816868	9:112,559,712	C/T	—	—
rs7048452	9:112,565,496	C/G	—	—
rs10980061	9:112,575,625	T/A	—	—
rs117435644	9:112,575,692	G/C	—	—
rs2025875	9:112,596,911	G/C	—	—
rs140452489	9:112,629,822	G/A	—	uncertain significance
rs1169178652	9:112,642,844	G/A	—	uncertain significance
rs765301198	9:112,642,873	G/A	—	uncertain significance
rs374624941	9:112,642,885	G/A	—	uncertain significance
rs1829825767	9:112,642,936	A/G	—	uncertain significance
rs202101352	9:112,682,041	G/A	—	—
rs1830889715	9:112,686,046	G/A	—	uncertain significance
rs150674445	9:112,687,354	C/A	—	uncertain significance
rs369150990	9:112,694,261	G/A	—	uncertain significance
rs4978409	9:112,722,784	C/T	intron variant	—
rs1930252	9:112,727,612	C/A	intron variant	—
rs72754919	9:112,731,699	C/T	regulatory region variant	—
rs11794102	9:112,732,288	A/G	regulatory region variant	—
rs4978866	9:112,735,585	T/C	intron variant	—
rs4978410	9:112,744,601	G/T	intron variant	—
rs116852611	9:112,745,176	A/G	—	—
rs118017491	9:112,745,178	A/T	intron variant	—
rs1291007168	9:112,778,236	G/A	—	uncertain significance
rs766588481	9:112,778,284	G/A	—	uncertain significance
rs138577734	9:112,778,302	C/G	—	likely benign
rs10816919	9:112,781,825	C/G	intron variant	—
rs886197064	9:112,811,099	A/G	—	likely benign
rs140463474	9:112,869,737	A/T	intron variant	—
rs558445452	9:112,890,202	G/A	—	—
rs17806457	9:112,891,635	C/T	regulatory region variant	—
rs193920924	9:112,898,449	G/T	—	uncertain significance
rs1279535685	9:112,898,516	A/G	—	uncertain significance
rs151065500	9:112,898,576	C/T	—	benign
rs139544328	9:112,898,599	G/A	—	uncertain significance
rs1197881211	9:112,898,601	T/C	—	likely benign
rs1397153388	9:112,898,675	T/A	—	uncertain significance
rs772511912	9:112,898,677	C/T	—	uncertain significance
rs2490958365	9:112,898,681	A/G	—	uncertain significance
rs368791948	9:112,898,687	A/G	—	uncertain significance
rs7039287	9:112,898,708	G/A	—	benign
rs775664650	9:112,898,738	A/G	—	uncertain significance
rs776340889	9:112,898,762	G/A	—	uncertain significance
rs1239869249	9:112,898,770	G/T	—	uncertain significance
rs116218337	9:112,898,802	C/T	—	benign
rs147894013	9:112,898,807	C/T	—	uncertain significance
rs7039409	9:112,898,843	G/A	—	benign
rs1835875404	9:112,898,847	G/T	—	uncertain significance
rs1835878974	9:112,898,919	T/G	—	uncertain significance
rs576854132	9:112,898,974	C/T	—	uncertain significance
rs1476102174	9:112,898,990	G/T	—	uncertain significance
rs376721653	9:112,899,008	G/A	—	uncertain significance
rs115538409	9:112,899,034	T/C	—	benign
rs756478584	9:112,899,062	G/A	—	uncertain significance
rs2490963421	9:112,899,088	T/G	—	uncertain significance
rs377038997	9:112,899,108	C/G	—	uncertain significance
rs370410739	9:112,899,110	A/G	—	uncertain significance
rs747873941	9:112,899,113	A/G	—	likely benign
rs761125706	9:112,899,170	T/G	—	uncertain significance
rs1314066815	9:112,899,197	G/A	—	uncertain significance
rs149748117	9:112,899,230	C/T	—	uncertain significance
rs748032934	9:112,899,240	G/T	—	uncertain significance
rs370739252	9:112,899,247	C/T	—	uncertain significance
rs749034065	9:112,899,301	C/T	—	uncertain significance
rs755966342	9:112,899,308	A/G	—	uncertain significance
rs1261144262	9:112,899,318	G/C	—	uncertain significance
rs200789861	9:112,899,319	C/T	—	uncertain significance
rs1835899972	9:112,899,413	C/T	—	uncertain significance
rs141692353	9:112,899,426	T/G	—	uncertain significance
rs114861534	9:112,899,430	C/T	—	benign
rs749684041	9:112,899,440	T/C	—	uncertain significance
rs1160771853	9:112,899,461	A/T	—	uncertain significance
rs576985655	9:112,899,514	A/T	—	uncertain significance
rs371565131	9:112,899,532	G/A	—	likely benign
rs771684808	9:112,899,605	A/C	—	uncertain significance
rs112958283	9:112,899,715	C/A	—	conflicting classifications of pathogenicity
rs1835914193	9:112,899,781	T/G	—	uncertain significance
rs530255881	9:112,899,830	C/T	—	uncertain significance
rs147886830	9:112,899,835	G/A	—	uncertain significance
rs548585080	9:112,899,839	G/A	—	uncertain significance
rs534051172	9:112,899,902	T/C	—	uncertain significance
rs755828958	9:112,899,928	C/T	—	uncertain significance
rs761276274	9:112,899,953	C/T	—	uncertain significance
rs763818224	9:112,900,026	C/T	—	likely benign
rs376250463	9:112,900,049	A/G	—	uncertain significance
rs2490975205	9:112,900,084	C/G	—	uncertain significance
rs567460599	9:112,900,124	G/A	—	uncertain significance
rs142423891	9:112,900,135	G/A	—	uncertain significance
rs757972758	9:112,900,141	A/C	—	uncertain significance
rs201769704	9:112,900,171	C/A	—	uncertain significance
rs772068592	9:112,900,182	G/A	—	likely benign
rs201192229	9:112,900,186	G/A	—	uncertain significance
rs747422795	9:112,900,196	C/T	—	likely benign
rs976901694	9:112,900,307	G/C	—	uncertain significance
rs145889855	9:112,900,331	C/T	—	uncertain significance
rs34665027	9:112,900,341	G/A	—	benign
rs137889332	9:112,900,363	G/A	—	likely benign

Showing 100 of 119 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.