Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q86SH2

Entry ID Method Resolution Chain Position Source
AF-Q86SH2-F1 Predicted AlphaFoldDB

422 variants for Q86SH2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs760005288 1 M>? Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA356839222
rs1202920946
2 A>S No ClinGen
gnomAD
CA2913459
rs753121878
3 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs753121878
CA2913460
3 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA356839257
rs1268512627
4 L>M No ClinGen
gnomAD
CA356839266
rs1431626024
4 L>P No ClinGen
TOPMed
gnomAD
rs1431626024
CA356839264
4 L>R No ClinGen
TOPMed
gnomAD
rs1457534258
CA356839285
5 G>A No ClinGen
gnomAD
rs1373705619
CA356839295
6 D>N No ClinGen
gnomAD
CA356839301
rs1475384407
6 D>V No ClinGen
gnomAD
CA2913463
rs757311879
7 E>* No ClinGen
ExAC
gnomAD
CA2913464
rs757311879
7 E>K No ClinGen
ExAC
gnomAD
rs1577770807
CA356839329
7 E>V No ClinGen
Ensembl
CA2913465
rs749217224
8 V>L No ClinGen
ExAC
gnomAD
CA356839334
rs749217224
8 V>M No ClinGen
ExAC
gnomAD
rs1388179393
CA356839382
11 G>D No ClinGen
gnomAD
rs1302898804
CA356839373
11 G>S No ClinGen
gnomAD
rs1245747071
CA356839413
12 Y>* No ClinGen
TOPMed
CA2913467
rs778836173
14 F>I No ClinGen
ExAC
gnomAD
CA356839448
TCGA novel
rs1208527639
14 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
CA356839465
rs1560481828
15 P>L No ClinGen
Ensembl
rs555231538
CA2913469
16 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356839522
rs1577770857
18 P>H No ClinGen
Ensembl
CA356839534
rs1245027313
19 P>A No ClinGen
gnomAD
rs746660380
CA356839541
19 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs746660380
CA2913472
19 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs746660380
CA356839544
19 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs757396573 20 C>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2913473
rs774944140
20 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA356839553
rs774944140
20 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA356839555
rs1262528313
20 C>Y No ClinGen
gnomAD
CA2913476
rs760077753
23 R>Q No ClinGen
ExAC
gnomAD
rs573882968
CA2913477
24 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA2913478
rs775982701
25 P>L No ClinGen
ExAC
rs763247171
CA356839684
27 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA2913479
rs763247171
27 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs763247171
CA356839681
27 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA2913480
rs764464441
28 A>T No ClinGen
ExAC
TOPMed
CA2913481
rs1553908870
29 A>P No ClinGen
Ensembl
rs1451809584
CA356839753
30 T>I No ClinGen
gnomAD
rs1310329082
CA356839778
31 K>N No ClinGen
gnomAD
CA356839828
rs1241490762
34 G>D No ClinGen
gnomAD
CA356839832
rs1241490762
34 G>V No ClinGen
gnomAD
CA356839847
rs1206945153
35 A>E No ClinGen
gnomAD
rs757460028
CA2913484
35 A>S No ClinGen
ExAC
gnomAD
rs757460028
CA356839835
35 A>T No ClinGen
ExAC
gnomAD
CA356839843
rs1206945153
35 A>V No ClinGen
gnomAD
CA356839851
rs1462197693
36 A>T No ClinGen
gnomAD
rs1181725329
CA356839866
36 A>V No ClinGen
gnomAD
rs750524713
CA2913486
37 G>C No ClinGen
ExAC
rs1362910448
CA356839887
38 G>D No ClinGen
gnomAD
rs1159408269
CA356839885
38 G>S No ClinGen
gnomAD
CA2913487
rs754961018
39 S>I No ClinGen
ExAC
gnomAD
CA356839896
rs754961018
39 S>N No ClinGen
ExAC
gnomAD
CA2913488
rs778924120
39 S>R No ClinGen
ExAC
CA96752823
rs758214383
40 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs777754029
CA2913491
40 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA2913490
rs758214383
40 W>L No ClinGen
ExAC
TOPMed
gnomAD
rs748105953
CA2913489
40 W>R No ClinGen
ExAC
rs746655373
CA356839919
41 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA2913492
rs746655373
41 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs770550111
CA2913493
41 Q>H No ClinGen
ExAC
gnomAD
rs780752312
CA356839931
42 Q>* No ClinGen
ExAC
gnomAD
CA2913496
rs10008444
CA356839938
42 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2913494
rs780752312
42 Q>K No ClinGen
ExAC
gnomAD
CA356839943
rs1305982516
43 R>C No ClinGen
TOPMed
gnomAD
rs1350170540
CA356839946
43 R>H No ClinGen
TOPMed
gnomAD
rs1350170540
CA356839949
43 R>L No ClinGen
TOPMed
gnomAD
CA356839940
rs1305982516
43 R>S No ClinGen
TOPMed
gnomAD
rs769308626
CA2913498
44 G>D No ClinGen
ExAC
gnomAD
CA356839951
rs1265090222
44 G>S No ClinGen
gnomAD
rs1254721700
CA356839962
45 R>K No ClinGen
gnomAD
CA2913500
rs763483115
46 G>C No ClinGen
ExAC
gnomAD
CA356839972
rs1178207442
46 G>D No ClinGen
gnomAD
rs763483115
CA356839970
46 G>S No ClinGen
ExAC
gnomAD
CA356839980
rs1201055213
47 C>F No ClinGen
gnomAD
CA356839977
rs1471414764
47 C>R No ClinGen
gnomAD
rs1201055213
CA356839978
47 C>Y No ClinGen
gnomAD
CA96752852
rs1009545904
48 L>F No ClinGen
TOPMed
gnomAD
CA356839993
rs1173319610
49 P>L No ClinGen
gnomAD
rs1432044673
CA356839988
49 P>S No ClinGen
gnomAD
CA356839997
rs1297445349
50 A>D No ClinGen
gnomAD
CA356839994
rs1462426889
50 A>T No ClinGen
gnomAD
CA356839999
rs1297445349
50 A>V No ClinGen
gnomAD
CA356840010
rs768977256
52 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs768977256
CA2913501
52 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA356840015
rs553038183
53 P>L No ClinGen
1000Genomes
gnomAD
CA96752858
rs553038183
53 P>R No ClinGen
1000Genomes
gnomAD
CA356840013
rs1346253409
53 P>S No ClinGen
gnomAD
CA356840022
rs1309844151
54 C>* No ClinGen
gnomAD
TCGA novel 54 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356840021
rs1299242894
54 C>Y No ClinGen
gnomAD
CA356840029
rs1205766240
55 S>L No ClinGen
gnomAD
CA356840033
rs1482257392
56 A>E No ClinGen
TOPMed
gnomAD
CA356840030
rs1274379112
56 A>T No ClinGen
gnomAD
CA356840035
rs1482257392
56 A>V No ClinGen
TOPMed
gnomAD
CA96752862
rs1044134001
57 G>V No ClinGen
TOPMed
gnomAD
CA356840041
rs1477476495
58 A>T No ClinGen
gnomAD
rs1189013801
CA356840049
59 A>S No ClinGen
TOPMed
gnomAD
rs1421005344
CA356840057
60 S>L No ClinGen
gnomAD
CA96752866
rs903739681
62 S>F No ClinGen
TOPMed
gnomAD
rs903739681
CA356840069
62 S>Y No ClinGen
TOPMed
gnomAD
rs1426261890
CA356840078
63 F>L No ClinGen
TOPMed
gnomAD
CA356840083
rs762080669
64 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762080669
CA2913503
64 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA356840081
rs1303510097
64 P>S No ClinGen
TOPMed
gnomAD
CA356840087
rs1364087836
65 G>D No ClinGen
gnomAD
rs1291873532
CA356840084
65 G>S No ClinGen
gnomAD
CA2913505
rs577689018
69 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766584457
CA2913507
70 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA96752882
rs371073707
70 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs371073707
CA2913508
70 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1560482021
CA356840123
72 A>P No ClinGen
Ensembl
CA356840136
rs1218846797
74 Y>N No ClinGen
gnomAD
CA356840150
rs1243347520
CA356840151
75 F>L No ClinGen
TOPMed
gnomAD
CA356840157
rs1476712439
76 D>E No ClinGen
TOPMed
gnomAD
rs777614070
CA2913510
76 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs751380832
CA2913511
77 S>T No ClinGen
ExAC
gnomAD
rs1412731550
CA356840184
80 R>P No ClinGen
gnomAD
CA2913513
rs73144650
80 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 81 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356840198
rs1162899979
82 R>L No ClinGen
TOPMed
gnomAD
CA356840196
rs1162899979
82 R>Q No ClinGen
TOPMed
gnomAD
rs1363734654
CA356840224
86 L>P No ClinGen
TOPMed
gnomAD
rs779580676
CA2913516
91 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs950468099
CA96752908
92 P>A No ClinGen
TOPMed
rs563410624
CA2913517
92 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1378645478
CA356840268
94 L>F No ClinGen
TOPMed
CA356840267
rs1378645478
94 L>V No ClinGen
TOPMed
rs769208107
CA2913518
95 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA356840273
rs769208107
95 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs908881418
CA356840296
99 R>C No ClinGen
TOPMed
gnomAD
rs908881418
CA96752914
99 R>G No ClinGen
TOPMed
gnomAD
rs1265690727
CA356840297
99 R>H No ClinGen
gnomAD
CA356840314
rs1254141152
102 G>C No ClinGen
TOPMed
CA356840315
rs1254141152
102 G>R No ClinGen
TOPMed
CA96752917
rs981467553
105 D>Y No ClinGen
TOPMed
gnomAD
CA356840351
rs772495951
107 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA356840352
rs772495951
107 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1331959219
CA356840348
107 A>T No ClinGen
gnomAD
rs772495951
CA2913521
107 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA356840367
rs1178707185
110 V>M No ClinGen
TOPMed
gnomAD
rs1479063528
CA356840386
112 P>Q No ClinGen
Ensembl
rs1457966136
CA356840390
113 R>H No ClinGen
gnomAD
rs773254829
CA356840400
115 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs773254829
CA2913522
115 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1056453628
CA96752938
116 A>T No ClinGen
TOPMed
gnomAD
CA2913523
rs575207390
116 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1345983127
CA356840413
117 A>T No ClinGen
gnomAD
rs151152950
CA96752941
118 V>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA356840428
rs1340269247
119 Q>H No ClinGen
gnomAD
CA356840443
rs1455938665
121 S>L No ClinGen
TOPMed
CA96752942
rs913963717
122 L>P No ClinGen
TOPMed
CA356840444
rs1388574987
122 L>V No ClinGen
TOPMed
CA356840448
rs1473838901
123 G>R No ClinGen
TOPMed
CA356840463
rs1560482108
125 R>C No ClinGen
Ensembl
CA96752943
rs945477385
125 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1227383290
CA356840467
126 T>A No ClinGen
gnomAD
rs562142882
CA96752946
129 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2913524
rs562142882
129 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1277894009
CA356840492
130 R>P No ClinGen
TOPMed
gnomAD
CA356840491
rs1277894009
130 R>Q No ClinGen
TOPMed
gnomAD
rs1204250692
CA356840490
130 R>W No ClinGen
TOPMed
gnomAD
CA356840509
rs1340727628
133 D>A No ClinGen
TOPMed
CA96752953
rs1043697034
134 P>S No ClinGen
TOPMed
CA356840535
rs1383237926
137 P>A No ClinGen
Ensembl
rs1432412980
CA356840537
137 P>L No ClinGen
TOPMed
CA2913526
rs529585784
138 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763874668
CA356840547
139 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs763874668
CA2913528
139 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1200978939
CA356840554
140 P>L No ClinGen
TOPMed
gnomAD
rs751529400
CA2913529
141 G>A No ClinGen
ExAC
gnomAD
rs1186955504
CA356840573
142 A>D No ClinGen
TOPMed
CA356840565
rs1370248856
142 A>T No ClinGen
TOPMed
CA2913530
rs756954053
143 E>K No ClinGen
ExAC
gnomAD
rs1413261418
CA356840590
144 G>C No ClinGen
gnomAD
rs1449087424
CA356840592
144 G>D No ClinGen
TOPMed
rs1331363992
CA356840606
145 T>I No ClinGen
TOPMed
gnomAD
CA356840617
rs1477533124
146 T>M No ClinGen
TOPMed
gnomAD
CA2913532
rs559352128
149 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs901659096
CA96752979
149 G>R No ClinGen
TOPMed
CA356840652
rs1170417661
150 S>C No ClinGen
TOPMed
gnomAD
rs755811979
CA2913533
151 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA356840662
rs1346984166
151 F>S No ClinGen
gnomAD
CA356840676
rs748863509
152 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA2913535
rs748863509
152 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs779226242
CA2913537
153 Q>* No ClinGen
ExAC
gnomAD
rs779226242
CA2913538
153 Q>K No ClinGen
ExAC
gnomAD
CA2913539
rs772281714
153 Q>R No ClinGen
ExAC
gnomAD
CA2913540
rs74929644
154 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1199754977
CA356840714
155 P>L No ClinGen
TOPMed
gnomAD
rs1490892482
CA356840708
155 P>S No ClinGen
gnomAD
CA356840730
rs771348437
157 R>C No ClinGen
ExAC
TOPMed
CA2913542
rs771348437
157 R>G No ClinGen
ExAC
TOPMed
CA356840736
rs1477333653
157 R>H No ClinGen
gnomAD
rs1170108222
CA356840739
158 R>* No ClinGen
gnomAD
rs1170108222
CA356840737
158 R>G No ClinGen
gnomAD
rs1391194094
CA356840741
158 R>Q No ClinGen
TOPMed
gnomAD
CA2913544
rs759634347
159 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA2913543
rs777001580
159 G>S No ClinGen
ExAC
gnomAD
rs759634347
CA2913545
159 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA2913546
rs774116026
160 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs767195551
CA356840757
160 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs767195551
CA2913548
160 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA356840759
rs1328779844
161 E>K No ClinGen
gnomAD
CA356840776
rs1298179886
162 Q>R No ClinGen
gnomAD
CA356840787
rs1232859886
163 G>C No ClinGen
TOPMed
gnomAD
CA96753033
rs1015925871
164 S>R No ClinGen
TOPMed
gnomAD
CA356840811
rs1341341232
165 P>H No ClinGen
gnomAD
rs1553908930
CA356840856
169 A>D No ClinGen
Ensembl
CA2913550
rs750274501
169 A>S No ClinGen
ExAC
gnomAD
rs1476242964
CA356840875
171 R>Q No ClinGen
TOPMed
CA2913553
CA2913554
rs753500934
173 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA2913552
rs765948384
173 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA356840893
rs765948384
173 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs778512611
CA2913555
174 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA356840922
rs1195388825
175 F>L No ClinGen
gnomAD
rs1449392109
CA356840933
176 P>L No ClinGen
TOPMed
gnomAD
rs1449392109
CA356840930
176 P>Q No ClinGen
TOPMed
gnomAD
CA356840925
rs1249235149
176 P>T No ClinGen
TOPMed
gnomAD
rs1458104571
CA356840947
179 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs778280300
CA2913558
181 V>L No ClinGen
ExAC
gnomAD
CA356840971
rs1320601489
182 Y>* No ClinGen
gnomAD
CA2913561
rs776944574
184 P>L No ClinGen
ExAC
TOPMed
rs771440149
CA2913560
184 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA2913565
rs370900350
188 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2913566
rs767554974
188 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs767554974
CA356841003
188 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA96753063
rs992257572
189 R>H No ClinGen
TOPMed
gnomAD
rs992257572
CA356841007
189 R>P No ClinGen
TOPMed
gnomAD
CA356841016
rs1187157778
191 T>A No ClinGen
gnomAD
CA356841024
rs1378238470
192 A>D No ClinGen
TOPMed
gnomAD
CA356841021
rs1245384076
192 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2913567
rs773137561
194 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs760404099
CA2913568
195 E>Q No ClinGen
ExAC
gnomAD
rs549200712
CA2913572
198 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA96753084
rs549200712
198 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 198 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754696963
CA2913571
198 G>W No ClinGen
ExAC
gnomAD
rs752322275
CA2913573
199 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA2913574
rs757853076
200 A>P No ClinGen
ExAC
gnomAD
rs778371879
CA2913575
200 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs901734089
CA96753093
201 A>T No ClinGen
TOPMed
CA356841073
rs1337756242
201 A>V No ClinGen
gnomAD
CA356841087
rs1230404399
203 E>D No ClinGen
gnomAD
rs933234525
CA96753096
203 E>K No ClinGen
TOPMed
gnomAD
CA356841092
rs1470082808
204 Q>R No ClinGen
TOPMed
CA96753097
rs1047558006
205 R>T No ClinGen
TOPMed
gnomAD
rs1207411083
CA356841103
206 S>P No ClinGen
TOPMed
gnomAD
rs1408153080
CA356841105
206 S>Y No ClinGen
TOPMed
rs757656411
CA2913577
207 G>R No ClinGen
ExAC
gnomAD
CA356841115
rs1483845487
208 A>P No ClinGen
TOPMed
gnomAD
CA356841113
rs1483845487
208 A>S No ClinGen
TOPMed
gnomAD
rs746057544
CA2913579
209 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1005959702
CA96753100
210 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 210 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356841143
rs1182369925
212 E>D No ClinGen
TOPMed
gnomAD
rs1208723017
CA356841148
213 R>M No ClinGen
TOPMed
CA356841151
rs1248869348
213 R>S No ClinGen
gnomAD
rs1208723017
CA356841149
213 R>T No ClinGen
TOPMed
CA2913580
rs770113421
214 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1226607784
CA356841159
215 P>S No ClinGen
TOPMed
rs1560482374
CA356841166
216 P>R No ClinGen
Ensembl
rs868427965
CA96753114
216 P>S No ClinGen
TOPMed
rs1359738279
CA356841168
217 P>T No ClinGen
gnomAD
CA96753122
rs905508301
218 A>T No ClinGen
TOPMed
gnomAD
rs1465470050
CA356841178
218 A>V No ClinGen
gnomAD
rs1300876675
CA356841180
219 R>W No ClinGen
gnomAD
rs1398275344
CA356841186
220 L>F No ClinGen
gnomAD
CA96753125
rs1001582578
221 Q>R No ClinGen
TOPMed
gnomAD
rs1456653489
CA356841206
223 P>L No ClinGen
TOPMed
CA96753129
rs960910778
224 E>G No ClinGen
TOPMed
gnomAD
rs992372425
CA96753132
225 E>K No ClinGen
TOPMed
CA356841226
rs1308817625
226 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 227 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356841233
rs1350083902
227 E>G No ClinGen
gnomAD
rs1183863832
CA356841237
228 V>M No ClinGen
TOPMed
rs1446077256
CA356841254
230 T>A No ClinGen
TOPMed
rs371294341
CA96753135
230 T>M No ClinGen
gnomAD
CA96753138
rs1021071658
231 K>N No ClinGen
TOPMed
gnomAD
CA356841260
rs1457981690
231 K>T No ClinGen
gnomAD
rs1486480695
CA356841271
232 K>N No ClinGen
TOPMed
rs1313359662
CA356841277
233 A>V No ClinGen
gnomAD
rs1560482407
CA356841285
235 R>W No ClinGen
Ensembl
CA356841292
rs1321240130
236 R>P No ClinGen
TOPMed
rs1177622340
CA356841290
236 R>W No ClinGen
gnomAD
CA356841311
rs1340234002
239 S>F No ClinGen
TOPMed
CA356841314
rs1254634703
240 D>N No ClinGen
gnomAD
CA356841322
rs1484218901
241 D>N No ClinGen
gnomAD
CA356841332
rs1434039416
242 D>H No ClinGen
TOPMed
rs1434039416
CA356841330
242 D>N No ClinGen
TOPMed
rs1187938407
CA356841338
243 G>S No ClinGen
TOPMed
gnomAD
rs966878677
CA96753144
244 E>V No ClinGen
TOPMed
gnomAD
rs1481865541
CA356841378
249 V>L No ClinGen
gnomAD
rs1192483271
CA356841398
252 S>I No ClinGen
gnomAD
rs1168382119
CA356841420
255 Q>E No ClinGen
TOPMed
rs1429431947
CA356841431
256 P>R No ClinGen
TOPMed
CA96753153
rs943480931
257 A>T No ClinGen
TOPMed
gnomAD
rs1398705666
CA356841437
257 A>V No ClinGen
TOPMed
gnomAD
CA356841445
rs923271859
258 D>E No ClinGen
TOPMed
rs1466394986
CA356841442
258 D>G No ClinGen
gnomAD
CA356841446
rs534944262
259 G>C No ClinGen
1000Genomes
TOPMed
gnomAD
rs534944262
CA96753158
259 G>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA96753161
rs534944262
259 G>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA356841451
rs1374602729
260 P>T No ClinGen
gnomAD
CA356841474
rs1374891907
263 P>L No ClinGen
TOPMed
gnomAD
rs1430226538
CA356841471
263 P>S No ClinGen
gnomAD
rs553324529
CA96753163
265 R>P No ClinGen
1000Genomes
TOPMed
gnomAD
CA96753166
rs750964713
268 Q>* No ClinGen
Ensembl
CA356841506
rs1340414806
269 E>K No ClinGen
gnomAD
rs1243239059
CA356841516
270 G>C No ClinGen
TOPMed
gnomAD
rs941880626
CA96753188
270 G>D No ClinGen
TOPMed
gnomAD
rs1037557386
CA96753191
272 A>G No ClinGen
TOPMed
rs1174333318
CA356841537
273 A>V No ClinGen
TOPMed
CA356841539
rs1197676787
274 P>A No ClinGen
gnomAD
rs1577772182
CA356841541
274 P>Q No ClinGen
Ensembl
rs905579705
CA96753193
275 R>P No ClinGen
TOPMed
gnomAD
rs1462344802
CA356841559
277 A>V No ClinGen
gnomAD
rs1577772195
CA356841576
280 S>N No ClinGen
Ensembl
CA96753195
rs777575691
281 P>L No ClinGen
TOPMed
gnomAD
rs1252868687
CA356841600
284 P>S No ClinGen
TOPMed
rs1013778817
CA96753197
285 P>L No ClinGen
TOPMed
CA356841608
rs1322767069
285 P>S No ClinGen
TOPMed
CA356841614
rs1348161243
286 S>L No ClinGen
TOPMed
rs967006001
CA96753201
287 A>T No ClinGen
TOPMed
CA356841625
rs1195229152
288 G>E No ClinGen
gnomAD
rs1391631194
CA356841628
289 R>G No ClinGen
TOPMed
CA96753204
rs979982256
290 A>V No ClinGen
TOPMed
gnomAD
rs1032521580
CA96753207
291 R>Q No ClinGen
TOPMed
CA356841680
rs1411401596
297 R>P No ClinGen
TOPMed
rs1478204896
CA356841679
297 R>W No ClinGen
TOPMed
gnomAD
rs1577772260
CA356841694
299 A>V No ClinGen
Ensembl
CA356841720
rs1408219308
303 G>V No ClinGen
gnomAD
CA356841738
rs1577772276
306 P>Q No ClinGen
Ensembl
rs1179919897
CA356841744
307 S>* No ClinGen
TOPMed
CA2913583
rs79858408
310 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1205551612
CA356841764
310 S>R No ClinGen
TOPMed
rs79858408
CA356841761
310 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1368312321
CA356841770
311 P>L No ClinGen
TOPMed
gnomAD
CA356841768
rs1368312321
311 P>Q No ClinGen
TOPMed
gnomAD
rs768736210
CA2913584
312 E>D No ClinGen
ExAC
gnomAD
rs1344898444
CA356841778
313 L>M No ClinGen
gnomAD
rs1577772306
CA356841790
315 K>E No ClinGen
Ensembl
CA96753226
rs575341512
315 K>N No ClinGen
1000Genomes
CA356841793
rs1229692198
315 K>R No ClinGen
TOPMed
gnomAD
rs1274349014
CA356841805
317 R>Q No ClinGen
TOPMed
gnomAD
CA96753227
rs983346657
317 R>W No ClinGen
TOPMed
gnomAD
rs1246812620
CA356841815
319 R>C No ClinGen
gnomAD
rs1246812620
CA356841814
319 R>G No ClinGen
gnomAD
CA96753228
rs780531605
319 R>H No ClinGen
TOPMed
gnomAD
CA2913593
rs752309653
322 F>L No ClinGen
ExAC
gnomAD
rs762479133
CA2913594
327 Y>H No ClinGen
ExAC
gnomAD
rs1229696349
CA356841954
331 H>Y No ClinGen
gnomAD
CA356841973
rs1577773496
333 K>R No ClinGen
Ensembl
rs772098058
CA96753674
334 D>A No ClinGen
Ensembl
rs1174317546
CA356841983
334 D>E No ClinGen
TOPMed
rs1480246151
CA356841986
335 C>G No ClinGen
TOPMed
CA356841993
rs1268381673
336 N>D No ClinGen
TOPMed
CA356841997
rs1177021620
336 N>S No ClinGen
gnomAD
CA2913598
rs781680931
337 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA2913599
rs368458920
338 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2913600
rs756437431
338 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA356842009
rs756437431
338 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1245998027
CA356842026
340 E>D No ClinGen
gnomAD
CA2913601
rs780264066
341 S>I No ClinGen
ExAC
gnomAD
CA356842046
rs775118457
343 Y>* No ClinGen
TOPMed
gnomAD
CA356842078
rs1404972324
348 Q>* No ClinGen
TOPMed
gnomAD
CA356842077
rs1404972324
348 Q>K No ClinGen
TOPMed
gnomAD
rs1311079892
CA356842087
349 G>* No ClinGen
TOPMed
rs1388145887
CA356842105
352 K>Q No ClinGen
TOPMed
CA356842137
rs1406516194
354 Y>* No ClinGen
gnomAD
rs376596690
CA356842150
356 K>R No ClinGen
ESP
TOPMed
gnomAD
rs376596690
CA96753712
356 K>T No ClinGen
ESP
TOPMed
gnomAD
CA356842166
rs1358883029
358 F>Y No ClinGen
gnomAD
CA356842201
rs1309419232
363 Q>P No ClinGen
gnomAD
CA356842218
rs1285894230
365 S>C No ClinGen
TOPMed
gnomAD
CA356842216
rs1227290649
365 S>P No ClinGen
TOPMed
gnomAD
rs768067945
CA2913618
366 Y>C No ClinGen
ExAC
gnomAD
rs756451241
CA2913620
368 P>A No ClinGen
ExAC
gnomAD
rs766685355
CA2913621
370 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA2913622
rs754055736
370 R>L No ClinGen
ExAC
gnomAD
COSM1055813
rs754055736
CA2913623
370 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs139941179
CA2913624
371 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356842256
rs1483500082
372 E>* No ClinGen
gnomAD
rs1335402249
CA356842265
373 D>Y No ClinGen
TOPMed
rs768464011
CA96753722
374 I>T No ClinGen
TOPMed
gnomAD
rs538867492
CA2913625
375 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs143281400
CA2913626
375 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143281400
CA2913627
375 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2913628
rs373552510
377 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1489072560
CA356842312
378 S>T No ClinGen
TOPMed
rs149279464
CA2913663
382 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356842344
rs1560483489
383 R>G No ClinGen
Ensembl
rs752889166
CA2913665
383 R>I No ClinGen
ExAC
gnomAD
CA356842349
rs1021693054
383 R>S No ClinGen
TOPMed
gnomAD
CA2913666
rs763134443
387 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA2913667
rs764221942
388 V>E No ClinGen
ExAC
gnomAD
TCGA novel 389 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2913669
rs751658888
391 R>C No ClinGen
ExAC
gnomAD
rs779795445
COSM1485989
CA2913670
391 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2913668
rs751658888
391 R>S No ClinGen
ExAC
gnomAD
CA2913672
rs754780024
394 D>G No ClinGen
ExAC
gnomAD
CA356842434
rs1351162083
395 P>T No ClinGen
gnomAD
rs201269427
CA356842455
397 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2913674
rs747776385
397 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2913673
COSM1618876
rs201269427
397 R>W liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA2913675
rs771676372
398 P>L No ClinGen
ExAC
gnomAD
CA356842485
rs1365072127
400 R>C No ClinGen
gnomAD
CA356842487
rs1342550322
400 R>H No ClinGen
TOPMed
gnomAD
CA356842490
rs1342550322
400 R>L No ClinGen
TOPMed
gnomAD
rs143324001
CA2913678
405 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356842621
rs1237931399
411 R>C No ClinGen
TOPMed
gnomAD
rs760079423
CA2913680
411 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356842632
rs1485823544
412 L>P No ClinGen
gnomAD
rs184767533
CA2913681
413 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1577774635
CA356842647
414 C>G No ClinGen
Ensembl
rs775890824
CA2913682
415 D>V No ClinGen
ExAC
CA356842659
rs1442651106
415 D>Y No ClinGen
gnomAD
rs150750718
CA2913683
419 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1255491407
CA356842724
420 F>Y No ClinGen
TOPMed
rs764157117
CA2913684
421 K>R No ClinGen
ExAC
gnomAD
CA356842759
rs1258730619
423 I>V No ClinGen
TOPMed

No associated diseases with Q86SH2

6 regional properties for Q86SH2

Type Name Position InterPro Accession
domain Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) 95 - 453 IPR002314
domain Anticodon-binding 471 - 558 IPR004154
domain Aminoacyl-tRNA synthetase, class II 52 - 463 IPR006195
domain YbaK/aminoacyl-tRNA synthetase-associated domain 256 - 372 IPR007214
domain Prokaryote proline-tRNA ligase core domain 17 - 453 IPR033730
domain Proline--tRNA ligase, anticodon binding domain 468 - 558 IPR044140

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, Cytoplasmic ribonucleoprotein granule
  • Cytoplasm
  • Specifically localizes to MARDO (mitochondria-associated ribonucleoprotein domain), a mitochondria-associated membraneless compartment that stores mRNAs in oocytes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
translation The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q1XFL1 ZAR1L ZAR1-like protein Bos taurus (Bovine) PR
10 20 30 40 50 60
MAALGDEVLD GYVFPACPPC SYRYPYPAAT KGKGAAGGSW QQRGRGCLPA SSPCSAGAAS
70 80 90 100 110 120
LSFPGCGRLT AAEYFDSYQR ERLMALLAQV GPGLGPRARR AGSCDVAVQV SPRIDAAVQC
130 140 150 160 170 180
SLGRRTLQRR ARDPESPAGP GAEGTTGGGS FSQQPSRRGL EQGSPQNGAP RPMRFPRTVA
190 200 210 220 230 240
VYSPLALRRL TAFLEGPGPA AGEQRSGASD GERGPPPARL QGPEEGEVWT KKAPRRPQSD
250 260 270 280 290 300
DDGEAQAAVR ASWEQPADGP ELPPREAQEG EAAPRSALRS PGQPPSAGRA RDGGDGREAA
310 320 330 340 350 360
VAGEGPSPRS PELGKERLRF QFLEQKYGYY HCKDCNIRWE SAYVWCVQGT NKVYFKQFCR
370 380 390 400 410 420
TCQKSYNPYR VEDITCQSCK QTRCSCPVKL RHVDPKRPHR QDLCGRCKGK RLSCDSTFSF
KYII