CARS1

cysteinyl-tRNA synthetase 1

Summary

This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Known Variants107 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs771519267	11:3,022,359	A/C	—	uncertain significance
rs763258683	11:3,022,391	G/A	—	uncertain significance
rs143403960	11:3,022,438	T/C	—	uncertain significance
rs2494112044	11:3,023,219	T/C	—	uncertain significance
rs553730980	11:3,023,226	C/T	—	uncertain significance
rs772425370	11:3,023,790	C/T	—	uncertain significance
rs146317056	11:3,023,807	C/T	—	likely benign
rs190684233	11:3,026,175	A/G	intron variant	—
rs1308917228	11:3,026,609	T/C	—	uncertain significance
rs113110912	11:3,027,022	A/T	intron variant	—
rs762313201	11:3,028,112	C/T	—	uncertain significance
rs2494166145	11:3,028,166	C/T	—	uncertain significance
rs145985522	11:3,028,174	T/C	—	uncertain significance
rs7481584	11:3,029,089	G/A	intron variant	—
rs143959915	11:3,033,489	C/A	—	uncertain significance
rs1850554352	11:3,033,496	G/T	—	uncertain significance
rs739401	11:3,036,324	C/T	intron variant	—
rs114985608	11:3,037,027	G/A	—	likely benign
rs1321274329	11:3,037,035	G/A	—	likely benign
rs373891738	11:3,037,039	G/A	—	uncertain significance
rs781761299	11:3,037,042	A/T	—	conflicting classifications of pathogenicity
rs770340203	11:3,037,067	C/T	—	likely benign
rs766200492	11:3,038,362	C/T	—	uncertain significance
rs61737274	11:3,038,363	G/C	—	uncertain significance
rs35416419	11:3,038,366	G/A	—	benign
rs777923218	11:3,038,401	C/T	—	likely benign
rs529526134	11:3,038,409	C/T	—	uncertain significance
rs376285275	11:3,038,410	G/A	—	uncertain significance
rs35817164	11:3,038,465	G/A	—	likely benign
rs201384773	11:3,038,481	T/C	—	uncertain significance
rs144307373	11:3,039,118	A/G	—	uncertain significance
rs61737267	11:3,039,151	C/T	—	likely benign
rs201112392	11:3,039,159	A/G	—	uncertain significance
rs150252960	11:3,039,647	C/T	—	likely benign
rs571697572	11:3,039,656	T/C	—	likely benign
rs373346810	11:3,039,663	G/A	—	uncertain significance
rs768147476	11:3,039,677	G/A	—	likely benign
rs766676110	11:3,039,711	T/C	—	uncertain significance
rs201215281	11:3,039,739	G/A	—	uncertain significance
rs80041195	11:3,039,866	G/A	—	likely benign
rs776098895	11:3,039,880	T/C	—	uncertain significance
rs1851281486	11:3,039,927	A/T	—	pathogenic
rs2494294718	11:3,039,944	G/C	—	uncertain significance
rs752227438	11:3,040,373	G/A	—	uncertain significance
rs757978333	11:3,040,377	G/A	—	pathogenic
rs781539920	11:3,040,380	C/A	—	uncertain significance
rs1198962798	11:3,040,407	G/A	—	uncertain significance
rs764965330	11:3,040,439	G/A	—	pathogenic
rs772199551	11:3,040,490	G/A	—	uncertain significance
rs777861752	11:3,040,493	C/T	—	likely pathogenic
rs1851451653	11:3,041,486	C/A	—	uncertain significance
rs1851454462	11:3,041,515	T/A	—	uncertain significance
rs1044100100	11:3,041,524	G/A	—	uncertain significance
rs35862603	11:3,041,538	C/T	—	uncertain significance
rs191972912	11:3,041,539	G/A	—	uncertain significance
rs2494376176	11:3,047,948	G/A	—	uncertain significance
rs766302762	11:3,047,959	C/T	—	uncertain significance
rs552905313	11:3,047,975	C/T	—	uncertain significance
rs145300178	11:3,047,976	G/C	—	uncertain significance
rs117234242	11:3,050,233	T/C	—	likely benign
rs1852411252	11:3,050,244	A/G	—	uncertain significance
rs568768232	11:3,050,272	G/A	—	uncertain significance
rs771395120	11:3,050,277	T/C	—	uncertain significance
rs750767852	11:3,050,549	T/C	—	uncertain significance
rs780246008	11:3,050,564	C/G	—	uncertain significance
rs759088637	11:3,050,584	C/T	—	likely benign
rs760542506	11:3,050,606	G/T	—	uncertain significance
rs148335154	11:3,050,622	G/A	—	benign
rs141256158	11:3,050,627	G/C	—	benign
rs571880247	11:3,050,630	T/G	—	uncertain significance
rs142400500	11:3,059,308	G/C	—	uncertain significance
rs2494510940	11:3,059,313	T/C	—	likely benign
rs2494511330	11:3,059,338	G/A	—	uncertain significance
rs12796489	11:3,059,360	C/T	—	uncertain significance
rs140579023	11:3,059,372	G/A	—	uncertain significance
rs374295215	11:3,059,375	C/T	—	uncertain significance
rs3205318	11:3,059,394	G/A	—	benign
rs751900375	11:3,059,401	G/A	—	uncertain significance
rs149456532	11:3,060,421	C/T	—	benign
rs558009289	11:3,060,432	C/T	—	uncertain significance
rs1376515337	11:3,060,434	G/T	—	uncertain significance
rs2494526757	11:3,060,442	A/T	—	uncertain significance
rs61737271	11:3,060,490	G/A	—	benign
rs149387799	11:3,060,507	G/A	—	uncertain significance
rs766414380	11:3,060,515	T/C	—	likely benign
rs376872778	11:3,061,091	T/C	—	uncertain significance
rs775915799	11:3,061,146	A/G	—	likely benign
rs200923551	11:3,062,130	C/T	—	likely pathogenic
rs61737270	11:3,062,131	G/A	—	likely benign
rs764655547	11:3,062,176	C/A	—	uncertain significance
rs751941798	11:3,062,179	C/T	—	likely benign
rs200664585	11:3,062,180	G/A	—	uncertain significance
rs1034135497	11:3,063,429	C/A	—	uncertain significance
rs752811700	11:3,063,473	A/C	—	likely benign
rs140644107	11:3,063,474	C/A	—	uncertain significance
rs200378856	11:3,063,475	G/A	—	uncertain significance
rs116083217	11:3,063,494	G/A	—	benign
rs375579	11:3,065,300	G/A	—	—
rs189783536	11:3,068,439	G/A	downstream gene variant	—
rs1209606513	11:3,069,007	C/T	—	uncertain significance

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

Gene information from NCBI Gene. Variant classifications from ClinVar.