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 Q02928

Entry ID Method Resolution Chain Position Source
AF-Q02928-F1 Predicted AlphaFoldDB

542 variants for Q02928

Variant ID(s) Position Change Description Diseaes Association Provenance
CA340228780
rs1391952983
2 S>N No ClinGen
TOPMed
rs1225641495
CA340228773
2 S>R No ClinGen
Ensembl
rs772300381
CA839852
3 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1557564122
CA340228770
COSM1202880
3 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1284603244
CA340228738
6 L>P No ClinGen
gnomAD
CA340228726
rs1407461140
7 S>I No ClinGen
gnomAD
rs1350346326
CA340228724
7 S>R No ClinGen
TOPMed
gnomAD
rs557358158
CA839850
8 P>H No ClinGen
1000Genomes
ExAC
gnomAD
rs557358158
CA839849
8 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA839848
rs749291376
9 S>R No ClinGen
ExAC
gnomAD
rs1400486144
CA340228688
11 L>I No ClinGen
TOPMed
gnomAD
CA839847
rs779900245
11 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1431721030
CA340228675
12 L>P No ClinGen
gnomAD
CA340228665
rs1284674948
13 G>V No ClinGen
TOPMed
rs1472299941
CA340228655
14 D>G No ClinGen
TOPMed
gnomAD
rs1156955746
CA340228659
14 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA839845
rs545726650
15 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs756981683
CA839843
18 I>L No ClinGen
ExAC
TOPMed
rs143389976
CA839841
21 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766863924
CA839838
22 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA839839
rs201643223
22 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340228525
rs1426065355
28 L>F No ClinGen
TOPMed
CA839836
rs750842065
28 L>H No ClinGen
ExAC
TCGA novel 29 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149204978
CA839833
35 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA839834
rs762154121
35 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA340228464
rs762154121
35 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA340228445
rs1557563781
37 L>I No ClinGen
Ensembl
rs1469688659
CA340228439
37 L>P No ClinGen
gnomAD
CA839832
rs771237083
38 Y>N No ClinGen
ExAC
TOPMed
gnomAD
rs775436920
CA839830
40 H>Y No ClinGen
ExAC
gnomAD
rs745767999
CA839828
41 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA839827
rs781095828
42 Q>* No ClinGen
ExAC
gnomAD
CA839826
rs770625688
42 Q>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 43 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21999675
rs868630045
46 K>R No ClinGen
Ensembl
rs1206414104
CA340228278
49 Q>* No ClinGen
gnomAD
CA340228252
rs1173331126
50 Q>L No ClinGen
TOPMed
CA340228228
rs1216586800
51 F>L No ClinGen
TOPMed
rs758007868
CA839823
52 P>L No ClinGen
ExAC
gnomAD
TCGA novel 53 C>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340228181
rs778258571
54 P>A No ClinGen
ExAC
gnomAD
rs536828497
CA839819
54 P>H No ClinGen
1000Genomes
ExAC
gnomAD
CA839820
rs536828497
54 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs778258571
CA839821
54 P>S No ClinGen
ExAC
gnomAD
CA839818
rs375391044
55 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA21999636
rs375391044
55 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757551399
CA839817
57 H>N No ClinGen
ExAC
gnomAD
rs751794931
CA839816
59 L>R No ClinGen
ExAC
gnomAD
rs764259809
CA839815
60 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 61 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370538155
CA340228082
CA21999599
61 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
rs370538155
CA839813
61 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340228056
rs1200488431
63 I>L No ClinGen
TOPMed
CA839812
rs765216120
64 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs1488216334
CA340228036
64 Q>R No ClinGen
TOPMed
CA839811
rs759581767
65 E>K No ClinGen
ExAC
gnomAD
CA839782
rs148145351
66 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs183136099
CA839781
67 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA21995480
rs1054435211
67 Q>H No ClinGen
TOPMed
gnomAD
rs747499896
CA839780
68 Q>K No ClinGen
ExAC
TOPMed
gnomAD
COSM1321009
CA21995446
rs936004142
69 D>E ovary [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs778176247
CA839779
69 D>Y No ClinGen
ExAC
gnomAD
CA340227765
rs1230486421
70 Q>E No ClinGen
TOPMed
CA839777
rs752974511
71 E>* No ClinGen
ExAC
gnomAD
CA21995428
rs200512624
71 E>G No ClinGen
1000Genomes
rs141891892
CA21995416
74 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839775
rs141891892
74 R>Q Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201585437
CA839776
74 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA839774
rs753908188
75 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA340227346
rs1481257981
CA340227347
78 W>C No ClinGen
gnomAD
TCGA novel 80 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1208465022
CA340227337
80 E>G No ClinGen
gnomAD
CA839773
rs145173494
80 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs202200720
CA21995401
81 T>A No ClinGen
1000Genomes
CA340227328
rs1245662620
81 T>I No ClinGen
TOPMed
CA839772
rs373407533
83 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1263971882
CA340227313
84 S>G No ClinGen
gnomAD
CA340227301
rs1225647908
85 A>V No ClinGen
gnomAD
rs146942170
CA839770
87 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs922753951
CA21995370
87 P>R No ClinGen
TOPMed
gnomAD
rs146942170
CA340227287
87 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146942170
CA839771
87 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839769
rs752182690
88 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs768154797
CA839767
89 W>G No ClinGen
ExAC
gnomAD
CA839766
rs762642639
90 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA839762
rs747518415
93 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs769288303
CA839763
93 G>S No ClinGen
ExAC
gnomAD
CA340227205
rs747518415
93 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1157769715
CA340227203
94 K>E No ClinGen
gnomAD
rs1410816810
CA340227192
94 K>N No ClinGen
gnomAD
CA839761
rs778190816
94 K>T No ClinGen
ExAC
gnomAD
CA839760
rs550471765
95 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550471765
CA340227183
95 V>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340227188
rs1278478016
95 V>I No ClinGen
gnomAD
COSM1202882
rs370892962
CA839759
96 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779308763
CA839758
96 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs755207747
CA839757
97 V>G No ClinGen
ExAC
CA340227169
rs1205779590
97 V>I No ClinGen
gnomAD
rs1011360462
CA21995279
98 Q>R No ClinGen
Ensembl
CA340227142
rs1369984550
99 L>F No ClinGen
TOPMed
rs754082184
CA839756
99 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1280460311
CA340227125
101 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1260181141
CA340227101
102 P>L No ClinGen
gnomAD
CA839755
rs780352553
104 Y>C No ClinGen
ExAC
gnomAD
CA340227082
rs1239871437
104 Y>H No ClinGen
gnomAD
CA839753
rs750399611
105 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA839754
rs756197290
105 M>V No ClinGen
ExAC
gnomAD
CA21995219
rs984434663
109 L>P No ClinGen
TOPMed
CA839751
rs761700780
CA340227014
110 G>R No ClinGen
ExAC
gnomAD
rs1214603740
CA340226987
112 S>* No ClinGen
TOPMed
rs781570724
CA839726
114 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762298167
CA839724
116 S>A No ClinGen
ExAC
gnomAD
rs774858456
CA839723
116 S>F No ClinGen
ExAC
gnomAD
CA839722
rs142103959
117 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs749620894
CA839720
118 G>A No ClinGen
ExAC
gnomAD
rs749620894
CA340226849
118 G>V No ClinGen
ExAC
gnomAD
CA839718
rs770181502
120 Y>C No ClinGen
ExAC
gnomAD
CA839719
rs140759322
120 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 122 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1388832509
CA340226811
124 A>T No ClinGen
TOPMed
rs1304120415
CA340226798
125 P>Q No ClinGen
TOPMed
rs866137454
CA21994447
126 W>* No ClinGen
Ensembl
rs1403817268
CA340226784
126 W>* No ClinGen
TOPMed
gnomAD
TCGA novel 128 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202868022
CA340226688
128 G>E No ClinGen
TOPMed
gnomAD
CA340226685
rs1202868022
128 G>V No ClinGen
TOPMed
gnomAD
CA340226668
rs62621075
130 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA340226664
rs1241859582
130 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA839687
rs62621075
130 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA340226661
rs1241859582
130 G>V No ClinGen
TOPMed
gnomAD
COSM70377
CA839686
rs144085677
CA839685
131 L>F ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs776854909
CA839684
132 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA839683
rs770936750
133 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA839681
rs777679381
134 L>* No ClinGen
ExAC
gnomAD
rs748068075
CA839679
139 W>* No ClinGen
ExAC
gnomAD
rs772044016
CA839680
139 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1228210732
CA340226527
141 Q>K No ClinGen
TOPMed
CA340226522
rs1295857369
141 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA340226512
rs778748836
142 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs778748836
CA839678
142 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA839677
rs754705570
143 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754705570
CA340226499
143 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA839676
rs146269651
143 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148717576
CA839672
144 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148717576
CA839673
144 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3400854
CA839675
rs202214253
144 R>W Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1190661750
CA340226467
145 M>I No ClinGen
gnomAD
rs1570093117
CA340226454
147 T>P No ClinGen
Ensembl
rs1284404117
CA340226436
149 A>T No ClinGen
gnomAD
CA340226429
rs1374561910
149 A>V No ClinGen
TOPMed
CA21993625
rs925656596
152 Y>N No ClinGen
TOPMed
gnomAD
rs932427056
CA21993614
155 L>P No ClinGen
TOPMed
gnomAD
rs370673519
CA839669
157 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143639289
CA839667
158 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143639289
CA340226300
158 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760783129
CA839665
159 V>E No ClinGen
ExAC
gnomAD
rs1557556740
CA340226292
159 V>L No ClinGen
Ensembl
rs773396769
CA839664
160 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs773396769
CA340226283
160 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs748084736
CA839662
161 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA839661
rs778769075
162 M>T No ClinGen
ExAC
gnomAD
CA340226260
rs1321654543
162 M>V No ClinGen
TOPMed
rs768465860
CA340226244
163 A>P No ClinGen
ExAC
gnomAD
CA839660
rs768465860
163 A>S No ClinGen
ExAC
gnomAD
rs768465860
CA340226246
163 A>T No ClinGen
ExAC
gnomAD
CA839659
rs749071464
164 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA839658
rs199858866
167 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA839656
rs144065752
167 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144065752
CA839657
167 R>Q Variant assessed as Somatic; 4.719e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA839655
rs780851577
168 V>A No ClinGen
ExAC
gnomAD
rs1268786413
CA340226181
169 M>L No ClinGen
gnomAD
CA340226178
rs1481908545
169 M>T No ClinGen
gnomAD
CA839653
rs753277901
170 L>P No ClinGen
ExAC
gnomAD
rs1470697523
CA340225847
173 W>C No ClinGen
TOPMed
gnomAD
rs143018352
CA839629
175 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 176 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570085983
CA340225819
178 G>S No ClinGen
Ensembl
rs536870781
CA839627
179 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764147276
CA839626
181 S>F No ClinGen
ExAC
gnomAD
CA340225792
rs1212352634
182 P>S No ClinGen
gnomAD
TCGA novel 183 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144945108
CA839625
183 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM117420
CA839624
rs62618709
185 V>F ovary large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA839623
rs769652273
188 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 189 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140345183
CA839621
189 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770751722
COSM3735358
CA839620
190 S>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs777489918
CA839618
CA340225723
192 M>I No ClinGen
ExAC
gnomAD
rs1401815800
CA340225699
196 T>S No ClinGen
gnomAD
CA839616
rs749817925
197 I>T No ClinGen
ExAC
gnomAD
CA340225686
rs1180197593
198 M>R No ClinGen
TOPMed
rs780379911
CA839615
200 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA839614
rs143503396
200 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839613
rs776305178
201 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 205 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757534980
CA839611
205 Q>R No ClinGen
ExAC
gnomAD
rs148545122
CA839609
206 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839610
rs151044753
206 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868672389
CA340225624
207 S>I No ClinGen
TOPMed
rs868672389
CA21992091
COSM910371
207 S>N Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs551730881
CA839606
208 I>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 209 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA839605
rs759491535
210 V>L No ClinGen
ExAC
gnomAD
CA340225601
rs539428854
211 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs539428854
CA839604
211 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs539428854
CA839603
211 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 214 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 217 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1309951857
CA340225472
218 I>L No ClinGen
gnomAD
rs12759935
CA21991724
218 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752955975
CA839569
220 A>G No ClinGen
ExAC
gnomAD
CA839568
rs757542967
223 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA340225372
rs1248472770
223 D>G No ClinGen
TOPMed
TCGA novel 223 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA839567
rs778859771
225 N>K No ClinGen
ExAC
TOPMed
gnomAD
VAR_048452
CA839566
rs12759923
226 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA839564
rs766382814
228 V>D No ClinGen
ExAC
gnomAD
CA340225294
COSM1343177
rs753851320
228 V>F Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs753851320
CA839565
228 V>L No ClinGen
ExAC
gnomAD
CA839563
rs376499620
229 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839561
rs12734875
230 S>C No ClinGen
Ensembl
rs750238866
CA839560
231 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs761443544
CA839558
231 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs761443544
CA839559
231 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs750238866
CA340225247
231 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA839555
rs372832923
232 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs763609518
CA839556
232 V>M No ClinGen
ExAC
gnomAD
TCGA novel 233 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs944833809
CA21991625
234 N>D No ClinGen
TOPMed
CA839554
CA340225193
rs201947604
234 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1417048390
CA340225189
235 A>T No ClinGen
gnomAD
rs1371775097
CA340225179
235 A>V No ClinGen
TOPMed
rs866787428
CA21991618
237 H>Y No ClinGen
Ensembl
CA839552
rs147970101
238 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1359013789
CA340225145
238 Q>P No ClinGen
TOPMed
rs1570081326
CA340225130
240 D>A No ClinGen
Ensembl
CA839551
COSM106662
rs143292347
240 D>N skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA340225120
rs1202500101
241 T>I No ClinGen
gnomAD
CA340225125
rs1570081271
241 T>P No ClinGen
Ensembl
CA340225116
rs1345188629
242 I>N No ClinGen
gnomAD
CA340225115
rs1345188629
242 I>T No ClinGen
gnomAD
CA340225119
rs1557553896
242 I>V No ClinGen
Ensembl
CA340225111
rs1200057250
243 Y>H No ClinGen
gnomAD
rs370227361
CA839550
244 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839549
rs370227361
244 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779145316
CA839548
246 T>A No ClinGen
ExAC
gnomAD
rs779145316
CA340225093
246 T>P No ClinGen
ExAC
gnomAD
rs1335527950
CA340225067
247 S>F No ClinGen
TOPMed
gnomAD
rs1189078901
CA839546
250 R>C No ClinGen
TOPMed
gnomAD
rs1189078901
CA340225035
250 R>G No ClinGen
TOPMed
gnomAD
rs140272422
CA839544
250 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140272422
CA839545
250 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1449188327
CA340225021
251 W>R No ClinGen
gnomAD
CA21991562
rs144757469
253 H>D No ClinGen
ESP
ExAC
TOPMed
rs756182951
CA839542
253 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs144757469
CA839543
253 H>Y No ClinGen
ESP
ExAC
TOPMed
CA839541
rs372123144
254 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145085638
CA839540
254 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145085638
CA839538
254 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839539
rs145085638
254 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839536
rs374070893
255 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370693795
CA839535
256 C>G No ClinGen
ESP
ExAC
gnomAD
rs1362970802
CA340224935
256 C>S No ClinGen
gnomAD
rs533408902
CA340224903
259 A>D No ClinGen
1000Genomes
rs1441096346
CA340224904
259 A>S No ClinGen
gnomAD
rs1441096346
CA340224906
259 A>T No ClinGen
gnomAD
rs533408902
CA21991519
259 A>V No ClinGen
1000Genomes
CA340224896
rs1450753801
260 H>Q No ClinGen
TOPMed
CA839533
rs144737664
260 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA839531
rs772344650
262 H>Q No ClinGen
ExAC
rs1442470366
CA340224874
263 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA340224847
rs1440585485
264 D>E No ClinGen
TOPMed
rs746940127
CA839503
267 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA340224815
rs1226768225
268 Q>L No ClinGen
TOPMed
gnomAD
CA340224814
rs1226768225
268 Q>R No ClinGen
TOPMed
gnomAD
rs1341279967
CA522613728
269 L>* No ClinGen
gnomAD
CA522613727
rs1298701856
269 L>P No ClinGen
gnomAD
CA340224808
rs1459545426
269 L>V No ClinGen
TOPMed
CA839501
CA340224786
rs758130015
271 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs752367699
CA839500
272 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1377308833
CA340224780
272 A>V No ClinGen
TOPMed
TCGA novel 273 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340224767
rs1405528293
274 L>I No ClinGen
gnomAD
CA839498
rs41300339
276 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA839495
CA839496
rs147306446
278 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752049616
CA839494
279 E>A No ClinGen
ExAC
gnomAD
rs1196409448
CA340224727
279 E>K No ClinGen
gnomAD
rs1196409448
CA340224726
279 E>Q No ClinGen
gnomAD
rs201985706
CA839493
281 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1570077138
CA340224696
COSM910370
282 K>N endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
CA839492
rs763364483
282 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs775888309
CA839491
283 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA340224693
rs1453748253
283 I>V No ClinGen
gnomAD
CA340224660
rs1557552744
287 R>G No ClinGen
Ensembl
rs1318673733
CA340224650
288 H>D No ClinGen
TOPMed
gnomAD
CA340224651
rs1318673733
288 H>Y No ClinGen
TOPMed
gnomAD
rs776835348
CA839488
290 D>H No ClinGen
ExAC
gnomAD
rs776835348
CA839489
290 D>Y No ClinGen
ExAC
gnomAD
rs1274239738
CA340224605
293 D>G No ClinGen
gnomAD
CA839486
rs770844748
294 I>S No ClinGen
ExAC
gnomAD
rs1326417961
CA340224593
295 L>I No ClinGen
gnomAD
rs777637899
CA839484
296 L>F No ClinGen
ExAC
gnomAD
TCGA novel 296 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA839483
rs561884452
296 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA21990909
rs369378406
298 A>T No ClinGen
ESP
TOPMed
gnomAD
CA340224559
rs1570076592
298 A>V No ClinGen
Ensembl
CA839480
rs778552906
299 K>Q No ClinGen
ExAC
gnomAD
CA340224494
rs1354235162
300 M>T No ClinGen
gnomAD
CA340224481
rs774270128
301 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA839462
rs774270128
301 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA340224448
rs1170019286
303 G>A No ClinGen
gnomAD
TCGA novel 304 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340224439
rs1450075446
304 S>N No ClinGen
gnomAD
CA340224414
CA839459
rs148595946
306 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839461
rs768269358
306 L>S No ClinGen
ExAC
gnomAD
CA839457
rs373052526
308 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA839458
rs564592694
308 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340224396
rs564592694
308 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA839456
rs780833068
312 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA839455
COSM910369
rs759038433
312 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753074193
CA839454
313 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA839453
rs368780307
314 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755248704
CA839452
317 T>M No ClinGen
ExAC
gnomAD
rs766548408
CA839450
321 E>K No ClinGen
ExAC
gnomAD
rs28451040
CA839448
323 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340224192
rs1260930883
323 H>Y No ClinGen
gnomAD
CA340224174
rs1488482611
324 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1242115353
CA340224153
325 T>I No ClinGen
TOPMed
gnomAD
rs1287927918
CA340224161
325 T>P No ClinGen
gnomAD
rs1242115353
CA340224155
325 T>S No ClinGen
TOPMed
gnomAD
CA340224143
rs1229530724
326 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA340224151
rs1312742291
326 T>P No ClinGen
gnomAD
TCGA novel 329 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866909219
CA21990632
329 G>R No ClinGen
Ensembl
rs377315921
CA839446
329 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761743285
CA839445
330 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs141672858
CA839444
331 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340224052
rs1301679681
333 I>N No ClinGen
gnomAD
TCGA novel 333 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1457543611
CA340224039
334 L>F No ClinGen
gnomAD
CA839442
rs749000785
334 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA340224038
rs749000785
334 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs541805813
CA839441
336 A>D No ClinGen
1000Genomes
ExAC
gnomAD
rs541805813
CA839440
336 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs756765536
CA839437
340 H>D No ClinGen
ExAC
gnomAD
rs779248380
CA839435
341 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1570074195
CA340223935
343 H>P No ClinGen
Ensembl
CA839432
rs780385066
344 Q>H No ClinGen
ExAC
gnomAD
rs754203259
CA839433
344 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA340223926
rs1223374182
345 E>K No ClinGen
TOPMed
gnomAD
CA340223923
rs1188242633
345 E>V No ClinGen
gnomAD
CA340223916
rs1315469922
346 R>K No ClinGen
gnomAD
CA839428
rs187003693
348 R>L No ClinGen
1000Genomes
ExAC
TOPMed
CA340223902
rs187003693
348 R>P No ClinGen
1000Genomes
ExAC
TOPMed
CA839429
rs187003693
348 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
CA839430
rs148022251
348 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340223875
rs1342950209
352 H>P No ClinGen
gnomAD
CA340223878
rs1570073858
352 H>Y No ClinGen
Ensembl
rs3899049
CA340223869
353 S>C No ClinGen
TOPMed
gnomAD
CA21990494
VAR_044377
rs3899049
353 S>G No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
rs751551682
CA839427
353 S>N No ClinGen
ExAC
gnomAD
rs1370317282
CA340223862
354 L>F No ClinGen
TOPMed
CA839426
rs148894365
355 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1460681350
CA340223857
355 L>V No ClinGen
gnomAD
rs369208625
CA340223854
356 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369208625
CA839424
356 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369208625
CA839425
356 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA839423
rs769643633
357 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA839422
rs759270614
357 D>V No ClinGen
ExAC
gnomAD
rs530295909
CA340223836
359 A>D No ClinGen
ExAC
gnomAD
rs372803840
COSM1687629
CA839420
359 A>T skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs530295909
CA839419
359 A>V No ClinGen
ExAC
gnomAD
rs769099199
CA839417
361 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA839418
rs769099199
361 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA839416
rs144597719
362 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 363 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA839392
rs138802237
364 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340223672
rs1458961273
365 H>Q No ClinGen
TOPMed
CA340223667
rs1379508152
366 L>P No ClinGen
gnomAD
rs765304868
CA839389
370 P>L No ClinGen
ExAC
gnomAD
rs1163359492
CA340223622
372 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 373 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754944564
CA839388
373 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1258872255
CA340223615
374 M>L No ClinGen
gnomAD
CA839387
rs753742359
375 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs954816685
CA21990204
375 C>Y No ClinGen
TOPMed
CA340223576
rs1467575085
379 A>E No ClinGen
TOPMed
CA839386
rs766191296
379 A>T No ClinGen
ExAC
gnomAD
rs1467575085
CA340223574
379 A>V No ClinGen
TOPMed
rs760250627
CA839385
381 R>K No ClinGen
ExAC
gnomAD
rs919229398
CA21990191
382 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA340223560
rs772865981
382 L>H No ClinGen
ExAC
TOPMed
gnomAD
COSM464711
CA839384
rs772865981
382 L>P kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA839383
rs58590117
COSM2150236
385 P>L Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA839381
rs142464883
386 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA839380
rs770339224
388 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1359618339
CA340223519
389 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs777049863
CA839377
393 L>I No ClinGen
ExAC
gnomAD
rs1162357390
CA340223487
394 S>N No ClinGen
TOPMed
gnomAD
rs1472825359
CA340223478
395 T>S No ClinGen
gnomAD
rs1477234945
CA340223471
396 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs778007925
CA839374
397 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs958885594
CA21990090
399 F>L No ClinGen
TOPMed
rs1264271732
CA340223447
400 P>L No ClinGen
gnomAD
CA340223439
rs1168855507
401 D>E No ClinGen
TOPMed
CA340223445
rs1479057076
401 D>H No ClinGen
TOPMed
CA839372
rs748287772
402 G>E No ClinGen
ExAC
gnomAD
CA839373
rs758517485
402 G>R No ClinGen
ExAC
gnomAD
rs779120313
CA839371
COSM1737082
403 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs756586563
CA21990052
403 R>H No ClinGen
TOPMed
gnomAD
CA839370
rs150346297
404 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374588379
CA839367
406 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA839369
rs766102280
406 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA839368
rs766102280
406 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA21990024
rs1003098093
407 K>E No ClinGen
TOPMed
gnomAD
rs1241490270
CA340223412
407 K>R No ClinGen
TOPMed
gnomAD
rs560044999
CA839366
408 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756993562
CA340223396
408 G>D No ClinGen
ExAC
gnomAD
rs756993562
CA839329
408 G>V No ClinGen
ExAC
gnomAD
CA340223388
rs1288247586
409 I>M No ClinGen
gnomAD
CA839328
rs777439629
CA839327
410 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1359071414
CA340223378
411 V>F No ClinGen
gnomAD
CA340223374
rs1335492629
412 L>F No ClinGen
gnomAD
CA839326
rs758021306
412 L>H No ClinGen
ExAC
gnomAD
CA839325
rs752308062
413 L>V No ClinGen
ExAC
gnomAD
rs764647471
CA839324
415 I>V No ClinGen
ExAC
gnomAD
CA340223349
rs1570063217
416 Y>C No ClinGen
Ensembl
CA21988742
rs772116129
417 G>R No ClinGen
gnomAD
CA21988738
rs1014674360
418 L>I No ClinGen
TOPMed
rs375258408
CA340223327
CA340223328
419 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 419 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 422 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750836457
CA839322
422 P>S No ClinGen
ExAC
gnomAD
rs750836457
CA340223309
422 P>T No ClinGen
ExAC
gnomAD
TCGA novel 423 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA839320
rs550368607
423 K>T No ClinGen
1000Genomes
ExAC
gnomAD
CA839319
rs774827023
CA839318
424 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA340223298
rs774827023
424 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs764460830
CA839317
425 W>* No ClinGen
ExAC
gnomAD
rs1284458106
CA340223291
425 W>S No ClinGen
gnomAD
CA839314
rs769700393
427 N>H No ClinGen
ExAC
gnomAD
rs150667037
CA839313
428 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs150667037
CA21988657
428 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340223268
rs1343185691
429 E>Q No ClinGen
gnomAD
CA340223248
rs1291945566
430 V>A No ClinGen
gnomAD
CA340223250
rs1416004924
430 V>L No ClinGen
gnomAD
rs1457599116
CA340223243
431 F>Y No ClinGen
gnomAD
rs772994318
CA839290
432 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA839289
rs138925154
433 P>R No ClinGen
ESP
ExAC
gnomAD
rs1126742
CA839287
VAR_019160
434 F>S associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs142881303
CA839285
COSM1748487
435 R>C urinary_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA839284
COSM3805469
rs199678286
435 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA839286
rs142881303
435 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340223209
rs779699972
436 F>L No ClinGen
ExAC
gnomAD
rs1171226914
CA340223206
437 A>S No ClinGen
TOPMed
rs1189024958
CA340223202
438 P>A No ClinGen
gnomAD
CA839282
rs373468480
438 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764571042
CA839280
439 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs753070622
CA839278
440 S>C No ClinGen
ExAC
gnomAD
rs1228811515
CA340223187
441 A>P No ClinGen
gnomAD
rs1309565791
CA340223179
442 Q>* No ClinGen
gnomAD
rs759789388
CA839276
443 H>D No ClinGen
ExAC
TOPMed
gnomAD
rs1371972329
CA340223156
445 H>Y No ClinGen
gnomAD
COSM189843
rs556756716
CA839274
446 A>T lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340223138
rs1399721304
447 F>L No ClinGen
gnomAD
CA839273
rs544836341
449 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1327283629
CA340223121
450 F>L No ClinGen
TOPMed
rs1462435616
CA340223105
453 G>* No ClinGen
gnomAD
rs771932669
CA839271
453 G>E No ClinGen
ExAC
gnomAD
CA839272
rs771932669
453 G>V No ClinGen
ExAC
gnomAD
rs1233776645
CA340223102
454 S>P No ClinGen
TOPMed
rs1313221822
CA340223097
455 R>G No ClinGen
TOPMed
gnomAD
rs1454880450
CA340222691
456 N>K No ClinGen
TOPMed
gnomAD
CA839241
rs754090038
456 N>S No ClinGen
ExAC
gnomAD
CA340222680
rs1467990808
458 I>F No ClinGen
gnomAD
rs1126743
CA21986313
458 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780295129
CA839240
458 I>T No ClinGen
ExAC
gnomAD
rs767632502
CA21986304
459 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs750528497
CA839238
CA340222677
459 G>R No ClinGen
ExAC
gnomAD
rs767632502
CA839237
459 G>V No ClinGen
ExAC
gnomAD
rs942325999
CA21986303
460 K>E No ClinGen
TOPMed
gnomAD
CA340222670
rs1171626952
460 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1171626952
CA340222672
460 K>T No ClinGen
TOPMed
gnomAD
TCGA novel 461 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1264970774
CA340222639
464 M>I No ClinGen
gnomAD
rs1207136796
CA340222645
464 M>L No ClinGen
gnomAD
rs200205845
CA839236
464 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs763821466
CA839235
465 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA340222633
rs1240084416
465 N>S No ClinGen
TOPMed
rs531039219
CA839233
466 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs531039219
CA839232
466 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1248192186
CA340222607
469 V>A No ClinGen
TOPMed
TCGA novel 469 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA839231
rs765037022
470 A>S No ClinGen
ExAC
gnomAD
rs146063263
CA839230
471 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA839229
rs146063263
471 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA839227
rs748622926
472 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA839225
rs551830245
473 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA839224
rs749702088
474 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs749702088
CA340222583
474 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA839222
rs150500700
477 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148423796
CA839221
477 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340222538
rs1195546038
482 P>L No ClinGen
gnomAD
rs781148259
CA839220
483 D>A No ClinGen
ExAC
gnomAD
rs1267000192
COSM3805466
CA340222527
484 P>A Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA839219
rs367938890
486 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340222502
rs1429728247
488 P>A No ClinGen
TOPMed
CA340222487
rs1274960664
490 P>R No ClinGen
gnomAD
rs1399172771
CA340222488
490 P>S No ClinGen
TOPMed
rs148507594
CA839217
491 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340222480
COSM3805465
rs1216734147
491 I>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA340222477
rs1333769898
492 A>T No ClinGen
TOPMed
CA839216
rs758392577
493 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs151272902
CA839215
493 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440991817
CA340222467
494 L>F No ClinGen
TOPMed
gnomAD
rs562189386
CA839212
495 V>G No ClinGen
1000Genomes
ExAC
gnomAD
rs759121794
CA839213
495 V>L No ClinGen
ExAC
gnomAD
CA21986034
rs866450703
498 S>F No ClinGen
Ensembl
TCGA novel 500 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_001257 500 N>MESTCVSGGSLTLVKTRTSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAVPQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS CYP4A11V [UniProt] No UniProt
CA340222427
rs1409930212
500 N>S No ClinGen
gnomAD
CA340222413
rs1570042879
502 I>T No ClinGen
Ensembl
CA340222416
rs1420608451
502 I>V No ClinGen
gnomAD
CA340222407
rs1570042847
503 H>P No ClinGen
Ensembl
CA839211
COSM3400852
rs765836836
505 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340222396
rs765836836
505 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs144175060
CA839210
505 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA839209
rs58897090
COSM4144052
506 L>F thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1557545217
CA340222385
507 R>T No ClinGen
Ensembl
CA839207
rs149532035
509 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs149532035
CA340222374
509 L>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA21986018
rs374049336
509 L>R No ClinGen
ESP
TOPMed
gnomAD
CA839208
rs149532035
509 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs564367884
CA839205
510 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs775839465
CA839206
510 P>T No ClinGen
ExAC
gnomAD
rs746103752
CA839204
511 N>S No ClinGen
ExAC
gnomAD
CA340222364
rs746103752
511 N>T No ClinGen
ExAC
gnomAD
rs139114509
CA839202
512 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340222352
rs1332375340
513 C>Y No ClinGen
gnomAD
CA340222336
rs1159038307
515 D>G No ClinGen
Ensembl
CA839201
rs747166920
519 L>F No ClinGen
ExAC
gnomAD

No associated diseases with Q02928

1 regional properties for Q02928

Type Name Position InterPro Accession
conserved_site Cytochrome P450, conserved site 450 - 459 IPR017972

Functions

Description
EC Number 1.14.14.1 With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
Subcellular Localization
  • Endoplasmic reticulum membrane ; Peripheral membrane protein
  • Microsome membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

9 GO annotations of molecular function

Name Definition
alkane 1-monooxygenase activity Catalysis of the reaction: octane + reduced rubredoxin + O2 = 1-octanol + oxidized rubredoxin + H2O.
arachidonic acid epoxygenase activity Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to a cis-epoxyeicosatrienoic acid.
arachidonic acid monooxygenase activity Catalysis of the incorporation of one atom from molecular oxygen into arachidonic acid and the reduction of the other atom of oxygen to water.
aromatase activity Catalysis of the reduction of an aliphatic ring to yield an aromatic ring.
heme binding Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
iron ion binding Binding to an iron (Fe) ion.
leukotriene-B4 20-monooxygenase activity Catalysis of the reaction: leukotriene B4 + O2 + reduced
long-chain fatty acid omega-hydroxylase activity Catalysis of the reaction: an omega-methyl-long-chain fatty acid + O2 + reduced = an omega-hydroxy-long-chain fatty acid + H(+) + H2O + oxidized
monooxygenase activity Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water.

15 GO annotations of biological process

Name Definition
arachidonic acid metabolic process The chemical reactions and pathways involving arachidonic acid, a straight chain fatty acid with 20 carbon atoms and four double bonds per molecule. Arachidonic acid is the all-Z-(5,8,11,14)-isomer.
epoxygenase P450 pathway The chemical reactions and pathways by which arachidonic acid is converted to other compounds including epoxyeicosatrienoic acids and dihydroxyeicosatrienoic acids.
fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.
icosanoid biosynthetic process The chemical reactions and pathways resulting in the formation of icosanoids, any of a group of C20 polyunsaturated fatty acids.
kidney development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
lauric acid metabolic process The chemical reactions and pathways involving lauric acid, a fatty acid with the formula CH3(CH2)10COOH. Derived from vegetable sources.
leukotriene metabolic process The chemical reactions and pathways involving leukotriene, a pharmacologically active substance derived from a polyunsaturated fatty acid, such as arachidonic acid.
linoleic acid metabolic process The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2.
long-chain fatty acid metabolic process The chemical reactions and pathways involving long-chain fatty acids, A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
omega-hydroxylase P450 pathway The chemical reactions and pathways by which arachidonic acid is converted to other compounds initially by omega-hydroxylation.
oxylipin biosynthetic process The chemical reactions and pathways resulting in the formation of any oxylipin, any of a group of biologically active compounds formed by oxidative metabolism of polyunsaturated fatty acids.
positive regulation of icosanoid secretion Any process that activates or increases the frequency, rate or extent of the controlled release of an icosanoid from a cell.
pressure natriuresis The process in which the volume of blood increases renal pressure and thereby results in both an increase in urine volume (diuresis) and an increase in the amount of sodium excreted in the urine (natriuresis).
renal water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body.
sodium ion homeostasis Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell.

38 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9VYQ5 Cyp318a1 Probable cytochrome P450 318a1 Drosophila melanogaster (Fruit fly) PR
Q9V7G5 Cyp4aa1 Probable cytochrome P450 4aa1 Drosophila melanogaster (Fruit fly) PR
Q9VVN6 Cyp312a1 Probable cytochrome P450 312a1 Drosophila melanogaster (Fruit fly) PR
Q9VXY0 Cyp4s3 Probable cytochrome P450 4s3 Drosophila melanogaster (Fruit fly) PR
Q9VMS8 Cyp4ac2 Probable cytochrome P450 4ac2 Drosophila melanogaster (Fruit fly) PR
Q9VMS7 Cyp4ac3 Probable cytochrome P450 4ac3 Drosophila melanogaster (Fruit fly) PR
Q9V559 Cyp4p3 Probable cytochrome P450 4p3 Drosophila melanogaster (Fruit fly) PR
Q6ZWL3 CYP4V2 Cytochrome P450 4V2 Homo sapiens (Human) PR
Q86W10 CYP4Z1 Cytochrome P450 4Z1 Homo sapiens (Human) PR
Q5TCH4 CYP4A22 Cytochrome P450 4A22 Homo sapiens (Human) PR
P13584 CYP4B1 Cytochrome P450 4B1 Homo sapiens (Human) PR
B6SSW8 CYP714B3 Cytochrome P450 714B3 Zea mays (Maize) PR
O35728 Cyp4a14 Cytochrome P450 4A14 Mus musculus (Mouse) PR
Q91WL5 Cyp4a12a Cytochrome P450 4A12A Mus musculus (Mouse) PR
Q9GJX5 CYP4A21 Taurochenodeoxycholic 6 alpha-hydroxylase Sus scrofa (Pig) PR
Q8SPK1 CYP4A24 Cytochrome P450 4A24 Sus scrofa (Pig) PR
Q8SPK0 CYP4A25 Cytochrome P450 4A25 Sus scrofa (Pig) PR
G3V7X8 Cyp26b1 Cytochrome P450 26B1 Rattus norvegicus (Rat) PR
P20816 Cyp4a2 Cytochrome P450 4A2 Rattus norvegicus (Rat) PR
P20817 Cyp4a14 Cytochrome P450 4A14 Rattus norvegicus (Rat) PR
P24464 Cyp4a12 Cytochrome P450 4A12 Rattus norvegicus (Rat) PR
Q05JG2 CYP707A5 Abscisic acid 8'-hydroxylase 1 Oryza sativa subsp japonica (Rice) PR
Q6F4F5 CYP724B1 Cytochrome P450 724B1 Oryza sativa subsp japonica (Rice) PR
Q0DS59 CYP714B2 Cytochrome P450 714B2 Oryza sativa subsp japonica (Rice) PR
Q5KQH7 CYP714D1 Cytochrome P450 714D1 Oryza sativa subsp japonica (Rice) PR
Q9C788 CYP704B1 Cytochrome P450 704B1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZUX1 CYP94C1 Cytochrome P450 94C1 Arabidopsis thaliana (Mouse-ear cress) PR
O81077 CYP707A2 Abscisic acid 8'-hydroxylase 2 Arabidopsis thaliana (Mouse-ear cress) PR
O64698 CYP710A2 Cytochrome P450 710A2 Arabidopsis thaliana (Mouse-ear cress) PR
O64697 CYP710A1 Cytochrome P450 710A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q94IA6 CYP90D1 3-epi-6-deoxocathasterone 23-monooxygenase CYP90D1 Arabidopsis thaliana (Mouse-ear cress) PR
Q6TBX7 CYP97C1 Carotene epsilon-monooxygenase, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
Q9LUC5 CYP72A15 Cytochrome P450 72A15 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LUC6 CYP72A14 Cytochrome P450 72A14 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LUC8 CYP72A13 Cytochrome P450 72A13 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LUC9 CYP72A11 Cytochrome P450 72A11 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SHG5 CYP72C1 Cytochrome P450 72C1 Arabidopsis thaliana (Mouse-ear cress) PR
Q6EIG3 cyp26b1 Cytochrome P450 26B1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSVSVLSPSR LLGDVSGILQ AASLLILLLL LIKAVQLYLH RQWLLKALQQ FPCPPSHWLF
70 80 90 100 110 120
GHIQELQQDQ ELQRIQKWVE TFPSACPHWL WGGKVRVQLY DPDYMKVILG RSDPKSHGSY
130 140 150 160 170 180
RFLAPWIGYG LLLLNGQTWF QHRRMLTPAF HYDILKPYVG LMADSVRVML DKWEELLGQD
190 200 210 220 230 240
SPLEVFQHVS LMTLDTIMKC AFSHQGSIQV DRNSQSYIQA ISDLNNLVFS RVRNAFHQND
250 260 270 280 290 300
TIYSLTSAGR WTHRACQLAH QHTDQVIQLR KAQLQKEGEL EKIKRKRHLD FLDILLLAKM
310 320 330 340 350 360
ENGSILSDKD LRAEVDTFMF EGHDTTASGI SWILYALATH PKHQERCREE IHSLLGDGAS
370 380 390 400 410 420
ITWNHLDQMP YTTMCIKEAL RLYPPVPGIG RELSTPVTFP DGRSLPKGIM VLLSIYGLHH
430 440 450 460 470 480
NPKVWPNPEV FDPFRFAPGS AQHSHAFLPF SGGSRNCIGK QFAMNELKVA TALTLLRFEL
490 500 510
LPDPTRIPIP IARLVLKSKN GIHLRLRRLP NPCEDKDQL