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

3 structures for Q8WWW0

Entry ID Method Resolution Chain Position Source
4LGD X-ray 305 A E/F/G/H 365-413 PDB
4OH8 X-ray 228 A B 366-418 PDB
AF-Q8WWW0-F1 Predicted AlphaFoldDB

347 variants for Q8WWW0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA344461332
rs1553393899
3 M>I No ClinGen
gnomAD
CA344461322
CA344461323
rs1553393895
3 M>L No ClinGen
gnomAD
CA344461324
rs1553393895
3 M>V No ClinGen
gnomAD
CA344461366
rs1553393905
7 A>D No ClinGen
gnomAD
rs1553393905
CA344461370
7 A>V No ClinGen
gnomAD
rs1572281637
CA344461373
8 I>V No ClinGen
Ensembl
rs1015628700
CA36534791
9 G>A No ClinGen
TOPMed
rs868979518
CA344461378
9 G>W No ClinGen
Ensembl
rs1364626634
CA344461390
10 Q>H No ClinGen
TOPMed
gnomAD
rs868946180
CA344461393
11 R>C No ClinGen
TOPMed
gnomAD
rs868946180
CA344461391
11 R>S No ClinGen
TOPMed
gnomAD
rs1431058319
CA344461400
12 P>L No ClinGen
TOPMed
gnomAD
rs1553393920
CA344461399
12 P>S No ClinGen
gnomAD
rs782180379
CA1361986
13 Y>D No ClinGen
ExAC
gnomAD
CA1361987
rs782359788
13 Y>S No ClinGen
ExAC
gnomAD
CA1361988
rs781952718
14 P>L No ClinGen
ExAC
gnomAD
CA344461412
rs781952718
14 P>Q No ClinGen
ExAC
gnomAD
CA344461411
rs1416774848
14 P>S No ClinGen
TOPMed
gnomAD
rs1416774848
CA344461409
14 P>T No ClinGen
TOPMed
gnomAD
rs782422450
CA1361990
15 L>I No ClinGen
ExAC
gnomAD
rs1553393931
CA344461418
16 L>I No ClinGen
gnomAD
rs782066092
CA1361992
16 L>Q No ClinGen
ExAC
gnomAD
rs868966664
CA344461428
17 L>F No ClinGen
Ensembl
CA344461432
rs1553393935
18 D>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1553393936
CA344461438
19 P>S No ClinGen
gnomAD
rs782073723
CA344461444
20 E>* No ClinGen
ExAC
gnomAD
CA1361995
rs782073723
20 E>K No ClinGen
ExAC
gnomAD
CA344461443
rs782073723
20 E>Q No ClinGen
ExAC
gnomAD
rs1553393942
CA344461453
21 P>Q No ClinGen
gnomAD
CA344461452
rs1553393941
21 P>T No ClinGen
gnomAD
rs782799787
CA1361996
22 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA1361997
rs781866355
23 R>L No ClinGen
ExAC
gnomAD
CA344461461
rs1553393948
23 R>S No ClinGen
gnomAD
CA344461483
rs1553393959
26 Q>R No ClinGen
TOPMed
rs1553393961
CA344461490
27 S>N No ClinGen
gnomAD
rs1553393961
CA344461491
27 S>T No ClinGen
gnomAD
rs781808271
CA344461497
28 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs781808271
CA1362000
28 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344461500
rs1553393964
29 S>G No ClinGen
gnomAD
CA344461507
rs967794608
30 G>C No ClinGen
gnomAD
rs967794608
CA36534878
30 G>S No ClinGen
gnomAD
rs782610236
CA1362002
31 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA36534889
rs977724049
32 E>D No ClinGen
TOPMed
CA344461518
rs1553393969
32 E>Q No ClinGen
gnomAD
CA344461534
rs1402818896
34 P>L No ClinGen
TOPMed
rs369172848
CA36534890
36 P>T No ClinGen
gnomAD
CA36534893
rs923642211
37 P>S No ClinGen
Ensembl
rs923642211
CA36534891
37 P>T No ClinGen
Ensembl
CA344461552
rs1553393978
38 P>A No ClinGen
gnomAD
CA1362005
rs557108539
38 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344461554
rs557108539
38 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1362004
rs557108539
38 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1169220169
CA344461561
39 D>E No ClinGen
TOPMed
gnomAD
rs1344667401 39 D>T Variant assessed as Somatic; 0.0001471 impact. [NCI-TCGA] No NCI-TCGA
rs993098629
CA36534943
40 R>L No ClinGen
Ensembl
rs934881220
CA36534935
40 R>W No ClinGen
TOPMed
gnomAD
CA36534945
rs917381880
42 S>L No ClinGen
Ensembl
CA344461580
rs1174941122
43 R>H No ClinGen
TOPMed
gnomAD
rs782327060
CA1362008
44 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1252996743
CA344461586
44 L>P No ClinGen
TOPMed
CA36534949
rs577132400
45 C>F No ClinGen
1000Genomes
TOPMed
gnomAD
rs1553393994
CA344461589
45 C>R No ClinGen
gnomAD
rs1553393995
CA344461599
46 V>L No ClinGen
gnomAD
rs888516223
CA36534952
47 P>L No ClinGen
TOPMed
gnomAD
rs941467957
CA344461617
48 A>E No ClinGen
TOPMed
gnomAD
CA1362009
rs782563542
48 A>T No ClinGen
ExAC
gnomAD
CA36534960
rs941467957
48 A>V No ClinGen
TOPMed
gnomAD
rs1553393999
CA344461631
50 L>H No ClinGen
gnomAD
CA344461641
rs1221612339
51 S>F No ClinGen
TOPMed
rs181163167
CA1362010
53 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs181163167
CA344461658
53 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782334742
CA1362011
54 P>S No ClinGen
ExAC
TOPMed
CA36534971
CA1362012
rs559841670
55 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782119488
CA1362013
56 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1553394008
CA344461683
57 R>C No ClinGen
gnomAD
CA344461685
rs1553394009
57 R>H No ClinGen
gnomAD
CA1362014
rs574913315
58 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782024454
CA1362015
60 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs782024454
CA344461707
60 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA344461715
rs1161874928
61 S>G No ClinGen
TOPMed
CA344461725
rs1006706460
62 A>S No ClinGen
TOPMed
gnomAD
CA36534996
rs1006706460
62 A>T No ClinGen
TOPMed
gnomAD
CA36535017
rs967762093
63 R>Q No ClinGen
TOPMed
CA36535011
rs1022123030
63 R>W No ClinGen
TOPMed
gnomAD
CA344461743
rs1201672798
64 R>K No ClinGen
TOPMed
gnomAD
rs1553394014
CA344461793
67 R>Q No ClinGen
gnomAD
rs561918883
CA1362017
68 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1362018
rs781843602
69 N>I No ClinGen
ExAC
gnomAD
CA344461825
rs1217742773
71 E>K No ClinGen
TOPMed
rs142795603
CA1362019
72 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1305805960
CA344461851
73 P>L No ClinGen
TOPMed
gnomAD
rs1553394029
CA344461845
73 P>T No ClinGen
gnomAD
rs1553394032
CA344461866
75 R>G No ClinGen
gnomAD
rs1228541045
CA344461870
75 R>Q No ClinGen
TOPMed
gnomAD
rs960422165
CA344461897
78 R>* No ClinGen
TOPMed
gnomAD
rs960422165
CA36535056
78 R>G No ClinGen
TOPMed
gnomAD
CA1362020
rs782795686
79 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs781898198
CA1362021
80 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs782542315
CA344461926
81 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782542315
CA1362022
81 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1362023
rs550837779
81 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA36535087
rs570368124
82 P>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA344461965
rs1425836417
84 R>L No ClinGen
TOPMed
CA344461961
rs1553394040
84 R>W No ClinGen
gnomAD
rs1383454282
CA344461984
86 G>S No ClinGen
TOPMed
rs57865548
CA344461997
87 L>V No ClinGen
gnomAD
rs781788863
CA1362024
88 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs532720302
CA1362025
89 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs933991594
CA36535137
92 R>P No ClinGen
TOPMed
gnomAD
CA344462084
rs1259940272
95 P>S No ClinGen
TOPMed
rs1553394056
CA344462105
97 A>T No ClinGen
gnomAD
CA344462115
rs1361242732
98 P>S No ClinGen
TOPMed
rs782375171
CA1362028
99 R>Q No ClinGen
ExAC
rs889707187
CA36535169
100 P>A No ClinGen
gnomAD
rs1007251864
CA36535174
100 P>L No ClinGen
Ensembl
CA344462127
rs889707187
100 P>S No ClinGen
gnomAD
rs782694757
CA344462148
101 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782694757
CA1362030
101 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs782694757
CA344462135
101 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1553394068
CA344462170
103 V>G No ClinGen
gnomAD
rs782281850
CA1362031
103 V>M No ClinGen
ExAC
gnomAD
CA344462172
rs1553394070
104 R>G No ClinGen
gnomAD
rs1361678222
CA344462176
104 R>L No ClinGen
TOPMed
CA344462171
rs1553394070
104 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344462182
rs1294550945
105 S>N No ClinGen
TOPMed
CA344462191
rs1553394074
106 I>V No ClinGen
gnomAD
CA344462206
rs1553394075
107 F>C No ClinGen
gnomAD
CA344462223
rs1459609445
108 E>* No ClinGen
TOPMed
gnomAD
CA344462234
rs1553394078
108 E>D No ClinGen
gnomAD
CA344462239
rs1553394080
109 Q>* No ClinGen
gnomAD
rs903699582
CA36535189
111 Q>P No ClinGen
TOPMed
rs1163205275
CA344462276
112 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 112 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA36535190
rs546298221
113 P>L No ClinGen
1000Genomes
rs1430445939
CA344462282
113 P>S No ClinGen
TOPMed
rs1392110046
CA344462288
114 R>G No ClinGen
TOPMed
gnomAD
CA1362032
rs782332774
115 V>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 117 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1553394093
CA344462312
117 A>V No ClinGen
gnomAD
CA344462322
rs1553394094
119 R>* No ClinGen
gnomAD
CA1362033
rs781924171
120 G>D No ClinGen
ExAC
gnomAD
TCGA novel 122 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA36535213
rs1030721805
124 C>S No ClinGen
Ensembl
rs1553394097
CA344462377
125 F>L No ClinGen
gnomAD
rs782004015
CA1362036
126 A>D No ClinGen
ExAC
gnomAD
CA1362035
rs782347381
126 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1553394098
CA344462396
127 E>* No ClinGen
Ensembl
rs1013236058
CA36535243
127 E>D No ClinGen
Ensembl
CA1362037
rs782159442
127 E>G No ClinGen
ExAC
gnomAD
CA1362038
rs782782706
128 L>* No ClinGen
ExAC
TOPMed
gnomAD
rs1553394101
CA344462406
129 V>M No ClinGen
gnomAD
CA1362040
rs782046050
131 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1252611736
CA344462421
131 P>L No ClinGen
TOPMed
CA344462425
rs1225867096
132 G>D No ClinGen
TOPMed
TCGA novel 133 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782739938
CA1362041
133 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA1362042
rs781816978
134 P>L No ClinGen
ExAC
gnomAD
CA36535273
rs980359268
136 W>* No ClinGen
TOPMed
rs1344063691
CA344462454
137 C>G No ClinGen
TOPMed
gnomAD
rs1344063691
CA344462453
137 C>R No ClinGen
TOPMed
gnomAD
rs1572282680
CA344462459
137 C>W No ClinGen
Ensembl
rs781906338
CA1362045
140 C>R No ClinGen
ExAC
gnomAD
CA36535278
rs777728322
141 G>R No ClinGen
TOPMed
gnomAD
rs1553394116
CA344462486
142 R>* No ClinGen
Ensembl
CA344462490
rs1398712023
142 R>L No ClinGen
TOPMed
gnomAD
CA344462489
rs1398712023
142 R>P No ClinGen
TOPMed
gnomAD
rs1553394119
CA344462758
145 L>Q No ClinGen
gnomAD
CA344462759
rs1553394124
146 R>G No ClinGen
gnomAD
rs1372380106
CA344462762
146 R>P No ClinGen
TOPMed
gnomAD
CA344462761
rs1372380106
146 R>Q No ClinGen
TOPMed
gnomAD
rs782183659
CA1362050
148 A>E No ClinGen
ExAC
gnomAD
CA1362051
rs78394637
150 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1362052
rs782603574
150 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344462794
rs782603574
150 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA344462790
rs78394637
150 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1553394128
CA344462805
152 T>A No ClinGen
gnomAD
CA344462808
rs1553394130
152 T>S No ClinGen
gnomAD
TCGA novel 153 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344462812
rs1553394132
153 N>Y No ClinGen
gnomAD
CA1362061
rs781984025
154 C>Y No ClinGen
ExAC
gnomAD
CA344467656
rs1212423666
158 C>G No ClinGen
TOPMed
CA344467700
rs1310527980
161 E>* No ClinGen
TOPMed
rs782799384
CA1362063
163 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781811232
CA1362065
163 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781811232
CA1362064
163 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344467752
rs1553398916
164 S>I No ClinGen
gnomAD
CA1362066
CA344467755
rs782762921
164 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1012028034
CA36548901
167 Q>H No ClinGen
Ensembl
rs1553398921
CA344467824
169 D>V No ClinGen
gnomAD
CA344467877
rs1553398926
172 Q>H No ClinGen
gnomAD
CA36548912
rs1027312389
174 E>D No ClinGen
gnomAD
CA1362067
rs781821022
175 G>C No ClinGen
ExAC
gnomAD
CA344467910
rs781821022
175 G>S No ClinGen
ExAC
gnomAD
rs1290113831
CA344467946
177 S>F No ClinGen
TOPMed
gnomAD
rs1290113831
CA344467944
177 S>Y No ClinGen
TOPMed
gnomAD
rs782638829
CA1362069
178 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1362068
rs782524239
178 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA344468011
rs1572320375
183 P>Q No ClinGen
Ensembl
CA1362070
rs369222315
183 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344468083
rs782448998
186 T>I No ClinGen
ExAC
gnomAD
CA1362071
rs782448998
186 T>N No ClinGen
ExAC
gnomAD
CA344468073
rs1572320390
186 T>P No ClinGen
Ensembl
CA1362074
rs782332110
189 V>A No ClinGen
ExAC
gnomAD
CA1362073
rs148860285
189 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139992469
CA1362077
190 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782236204
CA1362076
190 T>P No ClinGen
ExAC
gnomAD
CA344468194
rs1157501963
193 Q>E No ClinGen
TOPMed
CA1362079
rs782072478
193 Q>L No ClinGen
ExAC
gnomAD
CA1362139
rs782576124
196 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs782222502
CA1362140
196 C>Y No ClinGen
ExAC
gnomAD
rs1553406753
CA344463233
197 K>E No ClinGen
gnomAD
rs1331153170
CA344463273
199 V>A No ClinGen
TOPMed
CA1362143
rs545147786
200 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344463327
rs1553406765
203 Q>* No ClinGen
gnomAD
rs144335994
CA1362144
204 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782012174
CA1362145
204 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1362146
rs782190148
205 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202049293
CA36537548
206 P>L No ClinGen
Ensembl
rs1553406782
CA344463456
209 Q>R No ClinGen
gnomAD
CA344463472
rs1553406784
210 E>K No ClinGen
gnomAD
rs782785296
CA1362153
216 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs782785296
CA1362152
216 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 219 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782797227
CA1362155
220 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA1362157
rs148841211
221 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200076913
CA1362158
221 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1362191
rs199649479
234 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1362192
rs782332000
235 T>A No ClinGen
ExAC
gnomAD
CA344464161
rs782573550
235 T>I No ClinGen
ExAC
gnomAD
CA344464158
rs782573550
235 T>N No ClinGen
ExAC
gnomAD
CA1362193
rs782573550
235 T>S No ClinGen
ExAC
gnomAD
CA344464188
rs1553407042
237 T>A No ClinGen
gnomAD
CA344464202
rs1553407044
237 T>M No ClinGen
gnomAD
rs782389172
CA1362195
238 G>D No ClinGen
ExAC
gnomAD
rs1553407049
CA344464264
241 K>T No ClinGen
gnomAD
TCGA novel 242 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1553407052
CA344464279
242 V>L No ClinGen
gnomAD
rs1553407057
CA344464308
243 H>R No ClinGen
gnomAD
rs150163860
CA1362198
247 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1362199
rs150163860
247 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369854759
CA1362197
247 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1362200
rs545894272
248 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1553407065
CA344464390
248 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344464419
rs1553407069
250 V>L No ClinGen
gnomAD
rs201563198
CA1362202
251 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782546661
CA1362206
253 P>L No ClinGen
ExAC
gnomAD
rs910307989
CA36537863
254 A>G No ClinGen
TOPMed
CA344464559
rs782470099
257 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA1362209
rs782470099
257 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782709734
CA1362207
257 R>W No ClinGen
ExAC
gnomAD
CA36537869
rs539554161
260 S>F No ClinGen
Ensembl
rs1553407088
CA344464604
260 S>P No ClinGen
gnomAD
CA1362210
rs782647521
261 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs782553437
CA1362212
265 I>M No ClinGen
ExAC
gnomAD
rs782667123
CA1362213
267 E>Q No ClinGen
ExAC
gnomAD
CA344464781
rs1553407102
267 E>V No ClinGen
gnomAD
rs782184864
CA1362214
269 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA1362217
rs782218272
271 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1046688940
CA36537899
273 T>I No ClinGen
TOPMed
gnomAD
CA1362221
rs149067883
274 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1362220
rs149067883
274 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA36537912
rs201417666
CA344464930
275 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA344464913
rs1553407114
275 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1414337712
CA344464931
276 K>Q No ClinGen
TOPMed
TCGA novel 276 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs900661125
CA36537913
277 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1362225
rs4845112
277 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA344465030
rs1572372974
281 Y>S No ClinGen
Ensembl
CA36537915
rs932181365
285 D>N No ClinGen
Ensembl
rs1553407134
CA344465119
288 K>Q No ClinGen
gnomAD
rs1572373009
CA344465207
293 S>G No ClinGen
Ensembl
rs782500219
CA1362226
294 S>G No ClinGen
ExAC
CA344465258
rs1553407144
295 T>N No ClinGen
gnomAD
CA1362227
rs782806231
297 T>I No ClinGen
ExAC
gnomAD
CA1362229
rs782455588
298 V>I No ClinGen
ExAC
gnomAD
CA344465319
rs1157845699
299 S>R No ClinGen
TOPMed
gnomAD
CA36537938
rs140118607
303 Q>E No ClinGen
ESP
rs782557894
CA1362230
303 Q>P No ClinGen
ExAC
gnomAD
rs782662751
CA1362233
306 L>H No ClinGen
ExAC
gnomAD
CA1362236
rs782249472
307 K>N No ClinGen
ExAC
gnomAD
rs1553407164
CA344465426
307 K>R No ClinGen
gnomAD
rs1185347490
CA344465444
310 M>V No ClinGen
TOPMed
CA1362237
rs147291212
316 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200663011
CA1362238
317 K>R No ClinGen
1000Genomes
ExAC
rs782205958
CA1362239
319 A>V No ClinGen
ExAC
gnomAD
CA36537952
rs1054565713
321 F>L No ClinGen
Ensembl
rs782316266
CA1362240
322 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA1362242
rs570039354
323 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs550196205
CA1362241
323 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1553407184
CA344465543
324 I>T No ClinGen
gnomAD
rs1553407191
CA344465551
325 H>R No ClinGen
gnomAD
rs1553407194
TCGA novel
CA344465561
326 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA1362245
rs144913020
328 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344465580
rs1558524714
329 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1292180361
CA344465737
330 V>A No ClinGen
TOPMed
gnomAD
rs1364776088
CA344465741
331 L>V No ClinGen
TOPMed
CA1362276
rs782607707
333 Q>H No ClinGen
ExAC
gnomAD
rs746023356
CA36538100
335 L>P No ClinGen
Ensembl
rs148610151
CA1362277
336 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782558201
CA1362278
337 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA1362280
rs561503861
340 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA1362281
rs782312271
340 R>H No ClinGen
ExAC
gnomAD
CA344465809
rs1553407363
342 L>I No ClinGen
gnomAD
TCGA novel 342 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1572374809
CA344465818
343 Y>S No ClinGen
Ensembl
CA1362282
rs782615062
345 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782213884
CA1362283
345 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344465859
rs1171545733
350 P>R No ClinGen
TOPMed
rs782292608
CA1362286
351 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs530192428
CA1362287
352 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782753442
CA1362290
354 V>I No ClinGen
ExAC
gnomAD
rs1485473538
CA344465937
362 N>D No ClinGen
TOPMed
gnomAD
CA344465959
rs1553407380
365 G>R No ClinGen
gnomAD
rs1253444123
CA344465968
366 E>A No ClinGen
TOPMed
gnomAD
rs563800378
CA36538122
367 V>A No ClinGen
1000Genomes
TCGA novel 367 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344466842
rs1553407747
369 W>S No ClinGen
gnomAD
rs782145620
CA1362313
370 D>E No ClinGen
ExAC
gnomAD
TCGA novel 370 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344466859
rs1553407755
371 A>G No ClinGen
gnomAD
CA344466860
rs1553407755
371 A>V No ClinGen
gnomAD
CA1362314
rs782710434
372 F>L No ClinGen
ExAC
gnomAD
rs374894198
CA1362315
373 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA36538500
rs781884773
374 I>L No ClinGen
TOPMed
gnomAD
CA344466881
rs781884773
374 I>V No ClinGen
TOPMed
gnomAD
rs150973687
CA36538516
375 P>R No ClinGen
ESP
TOPMed
rs782097670
CA1362316
379 N>H No ClinGen
ExAC
gnomAD
CA1362317
rs368719396
379 N>T No ClinGen
ESP
ExAC
gnomAD
TCGA novel 381 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1396094779
CA344466933
381 L>V No ClinGen
TOPMed
gnomAD
CA1362319
rs782502649
388 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs782502649
CA344466979
388 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs764844474
CA1362320
390 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA1362321
rs764844474
390 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA344467031
rs1553407773
395 V>M No ClinGen
gnomAD
CA36538525
rs954068163
397 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1553407780
CA344467054
398 K>E No ClinGen
gnomAD
rs1553407783
CA344467072
400 D>G No ClinGen
gnomAD
CA36538526
rs112969377
403 R>M No ClinGen
Ensembl
CA1362324
rs782580377
404 Q>E No ClinGen
ExAC
gnomAD
rs782489549
CA1362326
407 E>A No ClinGen
ExAC
gnomAD
CA344467118
rs1448051673
407 E>K No ClinGen
TOPMed
rs372832789
CA1362327
408 E>A No ClinGen
ESP
ExAC
gnomAD
rs1553407796
CA344467143
410 L>F No ClinGen
gnomAD
TCGA novel 415 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1362328
rs782253930
415 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA344467192
rs1469978454
417 P>H No ClinGen
TOPMed

No associated diseases with Q8WWW0

4 regional properties for Q8WWW0

Type Name Position InterPro Accession
domain Ras-associating domain 272 - 364 IPR000159
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 122 - 171 IPR002219
domain SARAH domain 366 - 413 IPR011524
domain Ras association domain-containing protein 5, RA domain 207 - 362 IPR033623

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, cytoskeleton
  • Isoform 2 is mainly located in the perinuclear region of unstimulated primary T-cells
  • Upon stimulation translocates to the leading edge and colocalizes with ITGAL/LFA-1 in the peripheral zone of the immunological synapse
  • Isoform 2 is localized to growing microtubules in vascular endothelial cells and is dissociated from microtubules by activated RAP1A
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.
small GTPase binding Binding to a small monomeric GTPase.

7 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
lymphocyte proliferation The expansion of a lymphocyte population by cell division.
negative regulation of lymphocyte proliferation Any process that stops, prevents or reduces the rate or extent of lymphocyte proliferation.
positive regulation of protein ubiquitination Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein.
regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of protein localization to nucleus Any process that modulates the frequency, rate or extent of protein localization to nucleus.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6ZTQ3 RASSF6 Ras association domain-containing protein 6 Homo sapiens (Human) PR
Q9NS23 RASSF1 Ras association domain-containing protein 1 Homo sapiens (Human) PR
Q80UQ2 Rassf6 Ras association domain-containing protein 6 Mus musculus (Mouse) PR
Q99MK9 Rassf1 Ras association domain-containing protein 1 Mus musculus (Mouse) PR
Q5EBH1 Rassf5 Ras association domain-containing protein 5 Mus musculus (Mouse) PR
Q4QR82 Rassf6 Ras association domain-containing protein 6 Rattus norvegicus (Rat) PR
O35141 Rassf5 Ras association domain-containing protein 5 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAMASPAIGQ RPYPLLLDPE PPRYLQSLSG PELPPPPPDR SSRLCVPAPL STAPGAREGR
70 80 90 100 110 120
SARRAARGNL EPPPRASRPA RPLRPGLQQR LRRRPGAPRP RDVRSIFEQP QDPRVPAERG
130 140 150 160 170 180
EGHCFAELVL PGGPGWCDLC GREVLRQALR CTNCKFTCHP ECRSLIQLDC SQQEGLSRDR
190 200 210 220 230 240
PSPESTLTVT FSQNVCKPVE ETQRPPTLQE IKQKIDSYNT REKNCLGMKL SEDGTYTGFI
250 260 270 280 290 300
KVHLKLRRPV TVPAGIRPQS IYDAIKEVNL AATTDKRTSF YLPLDAIKQL HISSTTTVSE
310 320 330 340 350 360
VIQGLLKKFM VVDNPQKFAL FKRIHKDGQV LFQKLSIADR PLYLRLLAGP DTEVLSFVLK
370 380 390 400 410
ENETGEVEWD AFSIPELQNF LTILEKEEQD KIQQVQKKYD KFRQKLEEAL RESQGKPG