PTPN22 protein tyrosine phosphatase non-receptor type 22

Canonical transcript: NM_015967

139 unique variant annotations were identified in 246 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-114356663-A-G c.*864T>C - 3-UTRSNV 21/21 - 16
1-114357211-G-A c.*316C>T - 3-UTRSNV 21/21 - 3
1-114357750-G-A c.2360-159C>T - IntronicSNV - 20/20 14
1-114362437-A-G c.2282-161T>C - IntronicSNV - 19/20 1
1-114363459-G-A c.2282-1183C>T - IntronicSNV - 19/20 7
1-114364104-T-A c.2282-1828A>T - IntronicSNV - 19/20 3
1-114364104-T-C c.2282-1828A>G - IntronicSNV - 19/20 3
1-114364476-G-A c.2282-2200C>T - IntronicSNV - 19/20 11
1-114365752-C-T c.2281+2012G>A - IntronicSNV - 19/20 1
1-114366434-T-C c.2281+1330A>G - IntronicSNV - 19/20 9
1-114367116-C-T c.2281+648G>A - IntronicSNV - 19/20 1
1-114367513-T-C c.2281+251A>G - IntronicSNV - 19/20 1
1-114367793-C-T c.2252G>A p.Ser751Asn Missense 19/21 - 1
1-114369259-T-C c.2251-1465A>G - IntronicSNV - 18/20 1
1-114369734-A-G c.2251-1940T>C - IntronicSNV - 18/20 6
1-114372214-C-G c.2250G>C p.Lys750Asn Missense 18/21 - 2
1-114372222-T-C c.2242A>G p.Arg748Gly Missense 18/21 - 1
1-114372283-G-C c.2181C>G p.Asp727Glu Missense 18/21 - 5
1-114372283-G-T c.2181C>A p.Asp727Glu Missense 18/21 - 5
1-114372524-A-G c.2134+47T>C - IntronicSNV - 17/20 2
1-114372528-T-C c.2134+43A>G - IntronicSNV - 17/20 5
1-114372528-T-G c.2134+43A>C - IntronicSNV - 17/20 5
1-114372622-G-C c.2083C>G p.Pro695Ala Missense 17/21 - 1
1-114373503-A-C c.2054-852T>G - IntronicSNV - 16/20 16
1-114373503-A-G c.2054-852T>C - IntronicSNV - 16/20 16
1-114374435-C-T c.2053+1298G>A - IntronicSNV - 16/20 9
1-114377148-T-A c.1895-87A>T - IntronicSNV - 14/20 6
1-114377148-T-C c.1895-87A>G - IntronicSNV - 14/20 6
1-114377535-C-T c.1891G>A p.Ala631Thr Missense 14/21 - 1
1-114377543-A-G c.1883T>C p.Val628Ala Missense 14/21 - 1
1-114377546-A-G c.1880T>C p.Val627Ala Missense 14/21 - 1
1-114377547-C-T c.1879G>A p.Val627Met Missense 14/21 - 1
1-114377549-A-G c.1877T>C p.Ile626Thr Missense 14/21 - 1
1-114377549-AT-GC c.1876_1877delinsGC p.Ile626Ala Missense 14/21 - 1
1-114377561-G-C c.1865C>G p.Pro622Arg Missense 14/21 - 2
1-114377567-C-T c.1859G>A p.Arg620Gln Nonsense 14/21 - 1
1-114377568-A-G c.1858T>C p.Arg620Arg Missense 14/21 - 567
1-114377573-G-A c.1853C>T p.Pro618Leu Missense 14/21 - 1
1-114377574-G-C c.1852C>G p.Pro618Ala Missense 14/21 - 2
1-114377583-G-C c.1843C>G p.Pro615Ala Missense 14/21 - 1
1-114377599-T-C c.1827A>G p.Ile609Met Missense 14/21 - 1
1-114377602-C-G c.1824G>C p.Arg608Ser Missense 14/21 - 1
1-114377602-C-T c.1824G>A p.Arg608Arg Synonymous 14/21 - 1
1-114377610-C-A c.1816G>T p.Ala606Ser Missense 14/21 - 1
1-114377611-A-G c.1815T>C p.Thr605Thr Synonymous 14/21 - 1
1-114377769-G-A c.1811-154C>T - IntronicSNV - 13/20 1
1-114380415-T-A c.1607A>T p.Tyr536Phe Missense 13/21 - 3
1-114380445-T-A c.1577A>T p.Tyr526Phe Missense 13/21 - 1
1-114380460-CT-TT c.1562delinsA p.Ser521Asn Missense 13/21 - 1
1-114380656-G-C c.1366C>G p.Gln456Glu Missense 13/21 - 1
1-114380669-AA-A c.1356del p.Phe452Leufs*3 Frameshift 13/21 - 1
1-114380772-A-C c.1250T>G p.Leu417Trp Missense 13/21 - 1
1-114380826-G-A c.1196C>T p.Thr399Ile Missense 13/21 - 1
1-114380886-T-C c.1136A>G p.Asp379Gly Missense 13/21 - 1
1-114380914-G-T c.1108C>A p.His370Asn Missense 13/21 - 3
1-114380982-TT-T c.1042del p.Ile348Serfs*14 Frameshift 13/21 - 1
1-114381205-GT-TG c.952_953delinsCA p.Thr318His Missense 12/21 - 1
1-114381214-T-C c.944A>G p.Lys315Arg Missense 12/21 - 1
1-114381229-TG-GC c.928_929delinsGC p.His310Ala Missense 12/21 - 1
1-114381457-T-C c.916-215A>G - IntronicSNV - 11/20 9
1-114381633-T-C c.916-391A>G - IntronicSNV - 11/20 8
1-114382025-G-A c.916-783C>T - IntronicSNV - 11/20 3
1-114382025-G-T c.916-783C>A - IntronicSNV - 11/20 3
1-114383097-A-C c.916-1855T>G - IntronicSNV - 11/20 4
1-114383097-A-G c.916-1855T>C - IntronicSNV - 11/20 4
1-114386083-A-G c.916-4841T>C - IntronicSNV - 11/20 1
1-114388804-T-C c.915+2358A>G - IntronicSNV - 11/20 2
1-114389748-C-T c.915+1414G>A - IntronicSNV - 11/20 10
1-114391125-A-C c.915+37T>G - IntronicSNV - 11/20 2
1-114391125-A-G c.915+37T>C - IntronicSNV - 11/20 2
1-114391181-T-C c.896A>G p.Asp299Gly Missense 11/21 - 1
1-114391196-CATCT-C c.878_881del p.Gln293Argfs*45 Frameshift 11/21 - 1
1-114391201-TCT-TGG c.874_875delinsCC p.Arg292Pro Missense 11/21 - 1
1-114391241-TA-GC c.835_836delinsGC p.Tyr279Ala Missense 11/21 - 1
1-114391248-C-A c.829G>T p.Glu277* Nonsense 11/21 - 1
1-114393153-A-C c.828+1496T>G - IntronicSNV - 10/20 4
1-114393748-A-G c.828+901T>C - IntronicSNV - 10/20 9
1-114394463-C-T c.828+186G>A - IntronicSNV - 10/20 12
1-114394681-G-A c.796C>T p.Arg266Trp Missense 10/21 - 2
1-114394681-G-T c.796C>A p.Arg266Arg Synonymous 10/21 - 1
1-114394689-C-T c.788G>A p.Arg263Gln Missense 10/21 - 50
1-114396280-T-C c.750+813A>G - IntronicSNV - 9/20 2
1-114396816-C-A c.750+277G>T - IntronicSNV - 9/20 2
1-114396816-C-T c.750+277G>A - IntronicSNV - 9/20 2
1-114396955-G-A c.750+138C>T - IntronicSNV - 9/20 4
1-114397102-T-A c.741A>T p.Leu247Leu Synonymous 9/21 - 1
1-114397102-T-C c.741A>G p.Leu247Leu Synonymous 9/21 - 1
1-114397102-T-G c.741A>C p.Leu247Leu Synonymous 9/21 - 1
1-114397104-G-A c.739C>T p.Leu247Leu Synonymous 9/21 - 1
1-114397529-C-G c.683G>C p.Ser228Thr Missense 8/21 - 1
1-114397532-C-G c.680G>C p.Cys227Ser Missense 8/21 - 8
1-114397533-A-T c.679T>A p.Cys227Ser Missense 8/21 - 8
1-114397571-CA-GT c.640_641delinsAC p.Cys214Thr Missense 8/21 - 1
1-114397573-ACG-TGG c.638_639delinsCA p.Arg213Pro Missense 8/21 - 1
1-114397610-G-A c.602C>T p.Ser201Phe Missense 8/21 - 1
1-114397628-T-G c.584A>C p.Asp195Ala Missense 8/21 - 5
1-114397665-G-A c.547C>T p.Arg183* Nonsense 8/21 - 1
1-114397788-C-T c.541-117G>A - IntronicSNV - 7/20 4
1-114397799-C-T c.541-128G>A - IntronicSNV - 7/20 3
1-114399219-G-A c.431C>T p.Ala144Val Missense 6/21 - 1
1-114399228-C-T c.422G>A p.Arg141His Missense 6/21 - 1
1-114399237-TT-GC c.412_413delinsGC p.Lys138Ala Missense 6/21 - 1
1-114399433-C-T c.409-192G>A - IntronicSNV - 5/20 3
1-114400382-C-G c.386G>C p.Cys129Ser Missense 5/21 - 4
1-114400383-A-T c.385T>A p.Cys129Ser Missense 5/21 - 4
1-114400804-C-T c.369+296G>A - IntronicSNV - 4/20 2
1-114400904-C-G c.369+196G>C - IntronicSNV - 4/20 1
1-114400904-C-T c.369+196G>A - IntronicSNV - 4/20 1
1-114401231-A-G c.274-36T>C - IntronicSNV - 3/20 9
1-114401637-GC-TG c.259_260delinsCA p.Ala87His Missense 3/21 - 1
1-114401692-T-C c.205A>G p.Ser69Gly Missense 3/21 - 1
1-114401904-T-G c.196+70A>C - IntronicSNV - 2/20 3
1-114401998-T-C c.172A>G p.Asn58Asp Missense 2/21 - 1
1-114402024-G-C c.146C>G p.Ala49Gly Missense 2/21 - 14
1-114402030-GT-GA c.139delinsT p.Thr47Ser Missense 2/21 - 2
1-114402045-T-C c.125A>G p.Lys42Arg Missense 2/21 - 1
1-114402050-TGC-TTT c.118_119delinsAA p.Ala40Lys Missense 2/21 - 1
1-114402054-T-C c.116A>G p.Lys39Arg Missense 2/21 - 1
1-114402057-T-A c.113A>T p.Tyr38Phe Missense 2/21 - 1
1-114402062-GGT-GAG c.106_107delinsCT p.Thr36Leu Missense 2/21 - 2
1-114402065-AGA-GAG c.103_105delinsCTC p.Ser35Leu Missense 2/21 - 3
1-114402067-A-C c.103T>G p.Ser35Ala Missense 2/21 - 1
1-114402072-CT-GC c.97_98delinsGC p.Arg33Ala Missense 2/21 - 1
1-114402751-A-G c.88-669T>C - IntronicSNV - 1/20 2
1-114402846-G-C c.88-764C>G - IntronicSNV - 1/20 1
1-114402846-G-T c.88-764C>A - IntronicSNV - 1/20 1
1-114404901-C-G c.88-2819G>C - IntronicSNV - 1/20 1
1-114404901-C-T c.88-2819G>A - IntronicSNV - 1/20 1
1-114406002-G-A c.88-3920C>T - IntronicSNV - 1/20 3
1-114406444-T-A c.88-4362A>T - IntronicSNV - 1/20 1
1-114406451-T-A c.88-4369A>T - IntronicSNV - 1/20 11
1-114406451-T-C c.88-4369A>G - IntronicSNV - 1/20 11
1-114412667-G-A c.87+1492C>T - IntronicSNV - 1/20 25
1-114413731-C-A c.87+428G>T - IntronicSNV - 1/20 3
1-114414108-C-T c.87+51G>A - IntronicSNV - 1/20 2
1-114414160-AG-GC c.85_86delinsGC p.Leu29Ala Missense 1/21 - 1
1-114414163-AA-GC c.82_83delinsGC p.Phe28Ala Missense 1/21 - 2
1-114414169-T-C c.77A>G p.Asn26Ser Missense 1/21 - 1
1-114414179-C-T c.67G>A p.Glu23Lys Missense 1/21 - 3