JAK1

Janus kinase 1

Summary

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]

Known Variants570 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2780889	1:65,298,791	A/C	—	—
rs9128	1:65,298,971	C/T	downstream gene variant	—
rs376914054	1:65,300,242	T/G	—	uncertain significance
rs200563303	1:65,300,247	A/G	—	likely benign
rs769371012	1:65,300,248	T/A	—	uncertain significance
rs774929119	1:65,300,297	T/C	—	uncertain significance
rs369143723	1:65,300,305	T/C	—	likely benign
rs767652390	1:65,300,308	G/C	—	uncertain significance
rs1295192654	1:65,300,312	T/C	—	uncertain significance
rs1129739	1:65,300,332	T/C	—	benign
rs1312802715	1:65,300,338	A/C	—	likely benign
rs2523963432	1:65,300,354	G/A	—	likely benign
rs1213659803	1:65,300,355	A/G	—	likely benign
rs760616448	1:65,301,063	C/T	—	likely benign
rs527768311	1:65,301,064	G/A	—	likely benign
rs370492297	1:65,301,066	G/A	—	likely benign
rs751396065	1:65,301,075	A/C	—	uncertain significance
rs1413899535	1:65,301,087	G/C	—	uncertain significance
rs745818157	1:65,301,093	T/C	—	uncertain significance
rs1444751342	1:65,301,100	G/A	—	likely benign
rs368093469	1:65,301,101	C/T	—	uncertain significance
rs373643973	1:65,301,103	C/T	—	likely benign
rs543134894	1:65,301,104	G/A	—	uncertain significance
rs376079085	1:65,301,105	G/A	—	uncertain significance
rs774820863	1:65,301,110	C/T	—	uncertain significance
rs370434553	1:65,301,111	G/A	—	uncertain significance
rs374294807	1:65,301,127	C/T	—	likely benign
rs1198988820	1:65,301,128	G/A	—	uncertain significance
rs2523970939	1:65,301,129	T/A	—	uncertain significance
rs776821801	1:65,301,131	T/G	—	uncertain significance
rs2100930292	1:65,301,159	C/A	—	uncertain significance
rs2100930564	1:65,301,192	A/G	—	uncertain significance
rs2274945	1:65,301,238	A/G	—	benign
rs2780890	1:65,301,490	G/T	—	—
rs2780815	1:65,301,611	T/G	downstream gene variant	—
rs2254002	1:65,301,669	C/A	downstream gene variant	benign
rs2274944	1:65,301,765	G/T	—	benign
rs772528202	1:65,301,770	G/C	—	likely benign
rs1193035857	1:65,301,773	G/A	—	likely benign
rs371900175	1:65,301,774	G/A	—	likely benign
rs771509521	1:65,301,790	A/G	—	likely benign
rs2100933459	1:65,301,808	G/A	—	likely benign
rs2523977784	1:65,301,814	C/A	—	uncertain significance
rs1013552862	1:65,301,849	C/T	—	uncertain significance
rs776569350	1:65,301,850	G/A	—	likely benign
rs2523978083	1:65,301,857	G/A	—	uncertain significance
rs310241	1:65,303,338	A/G	downstream gene variant	—
rs3790532	1:65,303,390	G/A	downstream gene variant	—
rs551764189	1:65,303,596	A/G	—	likely benign
rs1480045364	1:65,303,607	T/G	—	likely benign
rs766096361	1:65,303,610	G/A	—	uncertain significance
rs2523992896	1:65,303,617	A/G	—	likely benign
rs2100943850	1:65,303,631	C/A	—	uncertain significance
rs759571109	1:65,303,633	C/T	—	uncertain significance
rs17127025	1:65,303,647	G/A	—	benign
rs12129819	1:65,303,659	C/T	—	benign
rs17392258	1:65,303,662	A/G	—	benign
rs763865501	1:65,303,664	C/T	—	uncertain significance
rs751184305	1:65,303,665	G/A	—	likely benign
rs200974543	1:65,303,677	T/C	—	likely benign
rs2523993738	1:65,303,687	C/T	—	uncertain significance
rs746324512	1:65,303,689	G/A	—	likely benign
rs780073987	1:65,303,707	T/G	—	uncertain significance
rs2100944608	1:65,303,719	C/T	—	likely benign
rs1654601532	1:65,303,721	C/G	—	uncertain significance
rs372734858	1:65,303,728	G/A	—	likely benign
rs1340186470	1:65,303,750	C/T	—	uncertain significance
rs897926965	1:65,303,757	C/T	—	uncertain significance
rs1200704581	1:65,303,758	G/A	—	likely benign
rs774570104	1:65,303,767	A/C	—	likely benign
rs993436199	1:65,303,770	A/G	—	likely benign
rs2100945211	1:65,303,775	A/G	—	likely benign
rs1198784285	1:65,303,792	G/A	—	likely benign
rs1448909895	1:65,303,794	G/A	—	likely benign
rs748353142	1:65,303,796	G/C	—	likely benign
rs2523995037	1:65,303,804	A/G	—	likely benign
rs371089776	1:65,304,129	T/C	—	likely benign
rs2523998482	1:65,304,132	T/C	—	likely benign
rs2523998517	1:65,304,134	T/C	—	likely benign
rs374875341	1:65,304,137	T/C	—	likely benign
rs367582687	1:65,304,162	C/T	—	uncertain significance
rs1229066454	1:65,304,166	A/G	—	likely benign
rs1315137281	1:65,304,175	C/T	—	likely benign
rs2523999363	1:65,304,192	T/C	—	uncertain significance
rs34680086	1:65,304,196	G/T	—	uncertain significance
rs2523999624	1:65,304,214	A/G	—	likely benign
rs188211265	1:65,304,232	C/T	—	likely benign
rs1163790865	1:65,304,233	G/A	—	uncertain significance
rs1421370150	1:65,304,259	A/G	—	likely benign
rs763015549	1:65,304,261	T/C	—	uncertain significance
rs1359929179	1:65,304,262	A/G	—	likely benign
rs1654641766	1:65,304,265	A/G	—	likely benign
rs1403174897	1:65,304,276	T/C	—	uncertain significance
rs11579616	1:65,304,470	A/C	—	benign
rs749550323	1:65,305,278	T/C	—	likely benign
rs200375330	1:65,305,287	G/A	—	uncertain significance
rs2524013214	1:65,305,290	T/C	—	likely benign
rs2100959636	1:65,305,319	T/A	—	uncertain significance
rs1328417891	1:65,305,336	T/C	—	uncertain significance
rs768512523	1:65,305,344	G/T	—	likely benign

Showing 100 of 570 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.