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

2 structures for P05177

Entry ID Method Resolution Chain Position Source
2HI4 X-ray 195 A A 27-516 PDB
AF-P05177-F1 Predicted AlphaFoldDB

496 variants for P05177

Variant ID(s) Position Change Description Diseaes Association Provenance
CA7659661
rs758501844
3 L>F No ClinGen
ExAC
gnomAD
rs201871401
CA7659660
3 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA393176629
rs1253621868
6 S>P No ClinGen
gnomAD
CA393176626
rs1253621868
6 S>T No ClinGen
gnomAD
rs764359866
CA7659662
6 S>Y No ClinGen
ExAC
gnomAD
rs1193278468
CA393176655
7 V>A No ClinGen
TOPMed
gnomAD
CA393176671
rs1477139859
8 P>H No ClinGen
gnomAD
CA7659663
rs751760377
8 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7659664
rs372412769
10 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393176717
rs1471159041
11 A>S No ClinGen
gnomAD
CA7659667
rs756588544
13 E>G No ClinGen
ExAC
gnomAD
rs1401787029
CA393176764
14 L>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7659668
rs60086777
15 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17861152
CA7659671
VAR_023196
18 S>C No ClinGen
UniProt
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
rs17861152
CA393176805
18 S>F No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs17861152
CA272820333
18 S>Y No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs1047643383
CA272820343
19 A>P No ClinGen
TOPMed
TCGA novel 19 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771691950
CA7659673
19 A>V No ClinGen
ExAC
gnomAD
rs773045980
CA7659674
20 I>M No ClinGen
ExAC
gnomAD
rs56160784
VAR_008349
CA7659675
21 F>L allele CYP1A2*2 [UniProt] No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 21 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1330830770
CA393176899
22 C>Y No ClinGen
gnomAD
rs142454118
CA7659676
25 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA272820350
rs142454118
25 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776313064
CA7659677
26 W>* No ClinGen
ExAC
gnomAD
CA7659678
rs759309532
27 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA393176986
rs1263283830
28 L>I No ClinGen
gnomAD
CA7659679
rs765154807
30 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1244631935
CA393177058
32 R>K No ClinGen
TOPMed
TCGA novel 32 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 33 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775486408
CA7659680
33 P>R No ClinGen
ExAC
gnomAD
CA272820365
rs941101723
34 R>Q No ClinGen
TOPMed
gnomAD
rs201934979
COSM122455
CA7659681
34 R>W upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
TOPMed
gnomAD
rs1192297220
CA393177095
35 V>G No ClinGen
gnomAD
rs1174406258
CA393177107
36 P>L No ClinGen
gnomAD
CA7659683
rs146974121
36 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7659684
rs146974121
36 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393177111
rs1313870798
37 K>* No ClinGen
TOPMed
rs751602658
CA393177117
37 K>I No ClinGen
ExAC
TOPMed
gnomAD
rs751602658
CA7659685
37 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs200789139
CA7659688
40 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs72547511
VAR_025182
CA272820394
42 P>R allele CYP1A2*15 [UniProt] No ClinGen
UniProt
Ensembl
dbSNP
CA7659689
rs756500317
42 P>S No ClinGen
ExAC
gnomAD
CA7659690
rs3743482
44 E>K No ClinGen
ExAC
gnomAD
rs539368728
CA7659692
46 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7659691
rs568839929
46 W>* No ClinGen
1000Genomes
ExAC
gnomAD
CA7659693
rs777457540
47 G>D No ClinGen
ExAC
gnomAD
rs939000746
CA272820407
47 G>S No ClinGen
gnomAD
rs1215275194
CA393177294
48 W>* No ClinGen
gnomAD
rs201763966
CA7659695
48 W>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA272820429
rs946281188
49 P>T No ClinGen
Ensembl
rs1393868624
CA393177326
50 L>F No ClinGen
TOPMed
gnomAD
CA7659697
rs745706596
51 L>F No ClinGen
ExAC
gnomAD
CA7659699
rs376605220
CA393177346
52 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762906326
CA7659700
53 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs1420021422
CA393177358
53 H>N No ClinGen
gnomAD
CA393177392
rs1378709714
56 T>A No ClinGen
gnomAD
rs1177351603
CA393177445
59 K>R No ClinGen
TOPMed
CA7659703
rs761818825
61 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA272820459
rs760561182
61 P>S No ClinGen
Ensembl
CA7659704
rs753312654
64 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs71651689
CA7659705
65 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7659706
rs760996321
67 R>G No ClinGen
ExAC
gnomAD
CA272820481
rs1031668682
69 S>G No ClinGen
TOPMed
rs754113457
CA7659708
70 Q>E No ClinGen
ExAC
gnomAD
CA7659709
rs755565165
71 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7659710
rs779505412
71 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA393177660
rs1310252720
72 Y>H No ClinGen
TOPMed
rs780755833
CA7659713
73 G>E No ClinGen
ExAC
gnomAD
CA7659712
VAR_025183
rs45565238
73 G>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs45565238
CA272820514
73 G>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs35407132
CA393177697
74 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1236685625
CA393177677
74 D>N No ClinGen
gnomAD
CA393177708
rs150164960
75 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7659715
rs150164960
75 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA272820521
rs899874249
77 Q>E No ClinGen
TOPMed
rs761941661
COSM1737262
CA7659720
79 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs752037611
CA7659721
79 R>H No ClinGen
ExAC
gnomAD
CA7659722
rs752037611
79 R>L No ClinGen
ExAC
gnomAD
rs1465950058
CA393177808
80 I>T No ClinGen
TOPMed
CA393177823
rs1445648921
81 G>D No ClinGen
gnomAD
rs1315277043
CA393177841
82 S>F No ClinGen
gnomAD
CA7659723
VAR_020848
rs138652540
83 T>M allele CYP1A2*9 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA272820538
rs766652315
84 P>T No ClinGen
gnomAD
CA7659727
rs759912942
85 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs759912942
CA7659726
85 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7659728
rs753232890
86 L>P No ClinGen
ExAC
gnomAD
CA393177937
rs1425061768
89 S>G No ClinGen
TOPMed
rs556218799
CA7659730
COSM1938753
90 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs556218799
CA393177949
90 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201551575
CA7659731
COSM1374560
90 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
rs201551575
CA272820553
90 R>L No ClinGen
1000Genomes
ExAC
TOPMed
CA393177948
rs556218799
90 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7659733
rs755802066
92 D>G No ClinGen
ExAC
gnomAD
CA7659734
rs779502284
93 T>I No ClinGen
ExAC
gnomAD
rs1335262830
CA393178007
94 I>S No ClinGen
Ensembl
CA7659737
rs754758658
95 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs754758658
CA7659736
95 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7659735
rs749152552
95 R>W No ClinGen
ExAC
gnomAD
rs781680722
CA7659739
97 A>D No ClinGen
ExAC
rs545726003
COSM471060
CA7659738
97 A>T kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs781680722
CA272820576
97 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA7659740
rs773366123
98 L>Q No ClinGen
ExAC
gnomAD
CA393178067
rs1195559808
99 V>M No ClinGen
gnomAD
CA7659743
rs201650099
COSM1374561
100 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145266863
CA7659742
100 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763535401
CA7659747
103 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7659749
rs34067076
COSM701191
VAR_025184
104 D>N lung [Cosmic] No ClinGen
cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1031616307
CA272820594
106 K>Q No ClinGen
TOPMed
CA393178216
COSM1374562
rs1300519560
107 G>D large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA7659752
COSM1323847
rs376179316
108 R>Q ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766082944
CA7659751
108 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs754811709
CA7659754
110 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs45442197
CA7659756
VAR_025185
111 L>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747891878
CA7659757
112 Y>C No ClinGen
ExAC
gnomAD
rs936160269
CA272820616
114 S>F No ClinGen
gnomAD
rs201820772
CA7659759
114 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7659761
rs377141209
116 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393178357
rs377141209
116 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393178369
rs1406048542
117 I>N No ClinGen
gnomAD
rs746122928
CA7659763
120 G>V No ClinGen
ExAC
gnomAD
rs770091203
CA7659764
121 Q>* No ClinGen
ExAC
gnomAD
rs763157275
CA7659766
124 T>I No ClinGen
ExAC
gnomAD
rs55802037
CA272820643
125 F>I No ClinGen
Ensembl
CA7659767
rs141543251
125 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774711732
CA7659768
128 D>N No ClinGen
ExAC
gnomAD
rs998243684
CA272820656
129 S>C No ClinGen
TOPMed
CA7659769
rs760284408
131 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA393178577
rs1262511137
131 P>T No ClinGen
gnomAD
rs1476915394
CA393178602
133 W>* No ClinGen
gnomAD
CA7659772
rs368187861
136 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM243936
rs150893756
CA7659773
136 R>H Variant assessed as Somatic; 4.644e-05 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393178646
rs150893756
136 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139412032
CA7659776
137 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM964891
rs758124536
CA7659775
137 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7659778
rs757176570
138 R>C No ClinGen
ExAC
gnomAD
CA7659779
rs59410695
138 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7659780
rs745883159
139 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs770142375
CA7659781
141 Q>* No ClinGen
ExAC
gnomAD
CA7659782
rs780416016
142 N>S No ClinGen
ExAC
gnomAD
rs1038912692
CA272820678
143 A>D No ClinGen
TOPMed
rs1285458880
CA393178735
143 A>T No ClinGen
gnomAD
TCGA novel 146 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7659785
rs774966785
148 S>C No ClinGen
ExAC
gnomAD
CA393178834
rs1449738143
149 I>V No ClinGen
gnomAD
rs1477440128
CA393178852
150 A>D No ClinGen
TOPMed
rs192799115
COSM166508
CA7659786
150 A>T haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs770950827
CA7659788
151 S>F No ClinGen
ExAC
gnomAD
rs758981719
CA7659789
152 D>N No ClinGen
ExAC
gnomAD
CA7659791
rs752279053
153 P>A No ClinGen
ExAC
gnomAD
rs1389226935
CA393178902
153 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7659793
rs763825636
154 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7659795
rs751318508
159 C>S No ClinGen
ExAC
gnomAD
CA7659796
rs757272055
162 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393179027
rs1282443707
164 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs781205661
CA7659797
165 V>G No ClinGen
ExAC
gnomAD
rs72547512
CA272820722
168 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs72547512
VAR_020849
CA7659798
168 E>Q allele CYP1A2*10 [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA393179097
rs1258512880
170 K>E No ClinGen
gnomAD
CA7659799
rs756244484
171 A>D No ClinGen
ExAC
gnomAD
CA393179116
rs756244484
171 A>V No ClinGen
ExAC
gnomAD
CA393179120
rs1196434185
172 L>M No ClinGen
gnomAD
CA7659800
rs780368294
175 R>S No ClinGen
ExAC
gnomAD
CA7659801
rs774282507
176 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs998884543
CA272820742
177 Q>K No ClinGen
TOPMed
CA7659802
rs768885942
178 E>K No ClinGen
ExAC
gnomAD
CA7659804
rs56075956
180 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA272820745
rs367873883
182 G>E No ClinGen
ESP
CA393179213
rs1427789337
182 G>R No ClinGen
gnomAD
rs1596357591
CA393179222
183 P>A No ClinGen
Ensembl
rs1331022381
CA393179227
183 P>L No ClinGen
gnomAD
CA7659806
CA7659805
rs147248980
185 H>Q No ClinGen
ESP
ExAC
gnomAD
VAR_020850
CA272820762
rs72547513
186 F>L allele CYP1A2*11; drastic reduction in O-deethylation of phenacetin and 7-ethoxyresorufin; has a Vmax of approximately 5% of that of the wild-type and 5-fold lower Km value [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA272820783
rs960745484
187 D>E No ClinGen
TOPMed
gnomAD
rs369511887
CA7659808
187 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393179270
rs1278748858
188 P>S No ClinGen
TOPMed
gnomAD
rs775025915
CA7659809
189 Y>* No ClinGen
ExAC
gnomAD
CA7659810
rs140747247
191 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763743676
CA7659811
193 V>E No ClinGen
ExAC
gnomAD
CA393179323
rs1465104157
194 V>A No ClinGen
TOPMed
rs1281521673
CA393179344
197 A>T No ClinGen
Ensembl
CA7659812
rs774018071
197 A>V No ClinGen
ExAC
gnomAD
CA393179359
rs1567205259
198 N>S No ClinGen
Ensembl
rs144697774
CA7659814
199 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA272820808
rs145783435
200 I>T No ClinGen
ESP
TOPMed
CA7659816
rs750360601
201 G>R No ClinGen
ExAC
gnomAD
rs750360601
CA7659815
201 G>S No ClinGen
ExAC
gnomAD
rs950873240
CA272820823
201 G>V No ClinGen
TOPMed
CA7659817
rs766404946
203 M>T No ClinGen
ExAC
gnomAD
rs371514690
CA272820825
203 M>V No ClinGen
ESP
VAR_025186
rs45540640
CA7659818
205 F>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7659820
rs200836818
206 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA393179439
rs1567205296
206 G>V No ClinGen
Ensembl
rs1467810049
CA393179467
209 F>L No ClinGen
gnomAD
rs202191520
CA7659821
210 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1401658009
CA393179491
211 E>A No ClinGen
TOPMed
gnomAD
CA393179490
rs1401658009
211 E>G No ClinGen
TOPMed
gnomAD
CA7659822
VAR_020851
rs758748797
212 S>C allele CYP1A2*12 [UniProt] No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA7659824
rs747544962
214 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1271532274
CA393179526
215 E>K No ClinGen
TOPMed
CA272820853
rs963042990
216 M>I No ClinGen
TOPMed
gnomAD
rs771419575
CA7659825
218 S>N No ClinGen
ExAC
gnomAD
rs1235038748
CA393179568
218 S>R No ClinGen
gnomAD
rs768256912
CA7659828
220 V>M No ClinGen
ExAC
gnomAD
CA7659830
rs761744781
223 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs761744781
CA393179614
223 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs773105304
CA7659832
224 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA272820884
rs773105304
224 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs760714274
CA7659833
225 E>D No ClinGen
ExAC
gnomAD
CA272820895
rs936216430
227 V>A No ClinGen
Ensembl
CA7659834
rs373580935
227 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393179677
rs1174302244
229 T>A No ClinGen
gnomAD
rs755082460
CA7659836
229 T>N No ClinGen
ExAC
gnomAD
rs765435682
CA7659837
230 A>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 230 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1171510781
CA393179702
231 S>F No ClinGen
TOPMed
TCGA novel 232 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201537008
CA7659838
233 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1358653797
CA393179727
234 N>K No ClinGen
TOPMed
gnomAD
rs200328907
CA7659839
235 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 235 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7659840
rs200328907
235 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 236 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 237 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7659841
rs200571120
238 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA7659842
rs757707764
239 F>L No ClinGen
ExAC
gnomAD
rs375045680
CA7659844
243 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768186715
CA7659845
243 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1280147841
CA393179827
245 L>Q No ClinGen
TOPMed
TCGA novel 246 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs542879792
CA7659848
247 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1555462472
CA393179869
248 P>L No ClinGen
Ensembl
rs1216594446
CA393179859
248 P>T No ClinGen
gnomAD
CA7659849
rs575035489
249 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1489714576
CA393179898
250 L>R No ClinGen
gnomAD
CA393179937
rs1452550218
252 R>K No ClinGen
gnomAD
CA393179991
rs1180705757
254 K>R No ClinGen
TOPMed
gnomAD
rs1439165020
CA393180051
257 N>S No ClinGen
TOPMed
gnomAD
CA7659851
rs561167723
257 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs775258473
CA393180060
258 Q>* No ClinGen
TOPMed
gnomAD
CA272820945
rs775258473
258 Q>K No ClinGen
TOPMed
gnomAD
CA393180066
rs1350414549
258 Q>L No ClinGen
gnomAD
rs776619123
CA7659853
265 Q>K No ClinGen
ExAC
gnomAD
CA393180152
rs1172740473
266 K>Q No ClinGen
gnomAD
rs1447126231
CA393180156
266 K>R No ClinGen
gnomAD
rs1285429482
CA393180168
267 T>A No ClinGen
TOPMed
rs759584175
CA7659854
267 T>I No ClinGen
ExAC
gnomAD
CA393180197
rs1374100939
269 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs752723652
CA7659856
271 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA7659859
rs140421378
272 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764233104
CA7659858
272 Y>H No ClinGen
ExAC
gnomAD
rs370942811
CA7659860
276 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7659861
COSM1582923
rs370942811
276 D>N meninges [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1038333951
CA393180323
277 K>N No ClinGen
gnomAD
rs750907355
CA7659862
277 K>T No ClinGen
ExAC
gnomAD
rs1286765352
CA393163796
280 V>I No ClinGen
gnomAD
rs267604321
CA7659885
281 R>Q No ClinGen
ExAC
TOPMed
gnomAD
RCV000894430
CA7659884
VAR_025187
rs45468096
281 R>W No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7659886
rs746644895
282 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1374564
CA7659887
rs368776150
284 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA272814995
rs746031187
285 G>V No ClinGen
Ensembl
CA393163881
rs1412353936
286 A>G No ClinGen
gnomAD
CA7659890
rs745581564
286 A>S No ClinGen
ExAC
gnomAD
rs745581564
CA7659889
286 A>T No ClinGen
ExAC
gnomAD
CA7659891
rs775392030
287 L>P No ClinGen
ExAC
gnomAD
rs762114920
CA393163927
289 K>N No ClinGen
ExAC
gnomAD
TCGA novel 289 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774252909
CA7659894
289 K>R No ClinGen
ExAC
gnomAD
rs771876603
CA7659896
290 H>R No ClinGen
ExAC
gnomAD
CA7659897
rs773632297
291 S>R No ClinGen
ExAC
gnomAD
rs760946724
CA7659898
292 K>Q No ClinGen
ExAC
gnomAD
rs767051591
CA7659899
294 G>A No ClinGen
ExAC
gnomAD
rs866210877
CA272815006
295 P>S No ClinGen
Ensembl
rs1355915373
CA393164027
297 A>D No ClinGen
gnomAD
VAR_024709
rs17861157
CA7659900
298 S>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs35796837
CA7659902
VAR_020852
299 G>S allele CYP1A2*13 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7659903
rs750975192
299 G>V No ClinGen
ExAC
gnomAD
rs1222061640
CA393164068
300 N>S No ClinGen
gnomAD
CA393164080
rs1248203623
301 L>F No ClinGen
gnomAD
rs1248203623
CA393164078
301 L>V No ClinGen
gnomAD
CA7659904
rs756936781
302 I>N No ClinGen
ExAC
gnomAD
rs756936781
CA393164092
302 I>T No ClinGen
ExAC
gnomAD
rs1567205738
CA393164101
303 P>S No ClinGen
Ensembl
CA393164153
rs1380440987
306 K>R No ClinGen
gnomAD
rs1440996448
CA393164165
307 I>L No ClinGen
gnomAD
CA7659905
rs780704581
307 I>T No ClinGen
ExAC
gnomAD
rs755877881
COSM378204
CA393164197
309 N>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
CA7659906
rs745733376
309 N>Y No ClinGen
ExAC
gnomAD
rs780002436
CA7659908
310 L>H No ClinGen
ExAC
gnomAD
rs780002436
CA393164206
310 L>P No ClinGen
ExAC
gnomAD
TCGA novel 311 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393164264
rs1567205764
314 I>M No ClinGen
Ensembl
rs28399418
VAR_024710
CA7659910
314 I>V No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1022231223
CA272815017
316 G>A No ClinGen
TOPMed
CA272815019
rs867784817
317 A>T No ClinGen
Ensembl
rs1302160533
CA393164306
317 A>V No ClinGen
TOPMed
rs748321462
CA7659929
318 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1438101486
CA393164311
318 G>R No ClinGen
TOPMed
TCGA novel 319 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 321 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778097570
CA7659931
324 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7659932
rs778097570
324 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA7659933
rs771230051
327 S>A No ClinGen
ExAC
gnomAD
CA7659934
rs777138577
328 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA393164538
rs1596358218
329 S>I No ClinGen
Ensembl
rs1167543869
CA393164540
329 S>R No ClinGen
gnomAD
CA272815183
rs995673317
331 M>I No ClinGen
TOPMed
CA7659936
rs200303014
331 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA7659935
rs200303014
331 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA393164575
rs1397866966
332 Y>N No ClinGen
gnomAD
rs369659890
CA7659937
333 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393164606
rs1414047313
334 V>M No ClinGen
TOPMed
gnomAD
rs1278651713
CA393164619
335 T>A No ClinGen
gnomAD
CA7659939
rs766962627
337 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1206500755
CA393164649
337 P>S No ClinGen
TOPMed
CA7659941
rs749883467
338 E>Q No ClinGen
ExAC
rs760330726
CA7659942
339 I>T No ClinGen
ExAC
gnomAD
rs765952249
CA7659943
340 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA393164689
rs1201701676
341 R>M No ClinGen
TOPMed
gnomAD
CA393164718
rs1567205948
342 K>N No ClinGen
Ensembl
rs1277524462
CA393164740
344 Q>* No ClinGen
TOPMed
gnomAD
CA7659944
rs765006100
345 K>R No ClinGen
ExAC
gnomAD
CA7659945
rs574824024
346 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA393164789
rs1427106271
347 L>V No ClinGen
gnomAD
CA7659946
VAR_020793
rs56276455
348 D>N allele CYP1A2*3; increases N-hydroxylation activity of heterocyclic amines; reduces phenacetin O-deethylation activity [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7659970
rs752489908
349 T>I No ClinGen
ExAC
gnomAD
rs764121366
CA7659972
350 V>G No ClinGen
ExAC
gnomAD
CA393165068
rs1453893545
352 G>C No ClinGen
TOPMed
rs1453893545
CA393165065
352 G>S No ClinGen
TOPMed
CA272815269
rs896388635
354 E>K No ClinGen
TOPMed
gnomAD
CA7659974
rs144076129
355 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7659973
rs148157092
355 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7659976
rs55918015
356 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs147333000
CA7659975
COSM1374565
356 R>W large_intestine prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756307932
CA7659977
357 P>A No ClinGen
ExAC
CA7659980
rs769113145
358 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749598098
CA7659979
358 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774829338
CA7659981
359 L>I No ClinGen
ExAC
gnomAD
rs574726215
CA7659982
361 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA393165278
rs1596358382
362 R>S No ClinGen
Ensembl
rs1368910480
CA393165314
363 P>L No ClinGen
TOPMed
gnomAD
CA393165295
rs1337589199
363 P>S No ClinGen
TOPMed
rs770400672
CA7659983
365 L>R No ClinGen
ExAC
gnomAD
rs776078971
CA7659984
366 P>S No ClinGen
ExAC
gnomAD
rs1447014399
CA393165384
368 L>V No ClinGen
gnomAD
rs994894269
CA272815298
370 A>T No ClinGen
TOPMed
rs764887010
CA7659986
374 E>V No ClinGen
ExAC
gnomAD
CA393165580
rs1382418569
376 F>L No ClinGen
TOPMed
CA393165592
rs1383695226
376 F>S No ClinGen
TOPMed
CA7659988
rs762793689
377 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA7659989
rs72547515
377 R>P No ClinGen
ExAC
TOPMed
gnomAD
VAR_025188
rs72547515
CA272815302
377 R>Q allele CYP1A2*16 [UniProt] No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 378 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751510035
CA7659991
379 S>Y No ClinGen
ExAC
gnomAD
CA7659993
rs767723757
382 L>W No ClinGen
ExAC
TOPMed
gnomAD
rs953378109
CA272815313
385 T>A No ClinGen
TOPMed
gnomAD
rs750455376
CA7659994
385 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs72547516
VAR_020794
CA7659996
386 I>F allele CYP1A2*4; increases catalytic efficiency of N-hydroxylation towards some heterocyclic amines and reduces towards others; reduces catalytic efficiency of phenacetin O-deethylation due to a high decrease in the affinity for phenacetin [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7659997
rs749674595
386 I>T No ClinGen
ExAC
rs72547516
CA7659995
386 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393165807
rs1429333138
387 P>T No ClinGen
TOPMed
rs557412265
CA393165822
388 H>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7659998
rs557412265
388 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1465860100
CA393165857
389 S>G No ClinGen
gnomAD
rs774289191
CA7660026
390 T>A No ClinGen
ExAC
gnomAD
CA7660027
rs761693521
392 R>G No ClinGen
ExAC
gnomAD
CA393167018
rs1208724378
392 R>M No ClinGen
gnomAD
CA272815630
rs762326858
392 R>S No ClinGen
Ensembl
rs1279527923
CA393167056
394 T>I No ClinGen
gnomAD
CA272815632
rs911014711
395 T>A No ClinGen
TOPMed
gnomAD
rs149928755
CA7660028
395 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393167077
rs1389711492
396 L>P No ClinGen
TOPMed
CA393167093
rs1567206457
397 N>S No ClinGen
Ensembl
CA393167104
rs1474899560
398 G>S No ClinGen
TOPMed
gnomAD
rs866111643
CA272815648
402 P>S No ClinGen
Ensembl
rs55889066
CA272815657
VAR_020795
406 C>Y allele CYP1A2*5; increases N-hydroxylation activity of heterocyclic amines; reduces catalytic efficiency of phenacetin O-deethylation [UniProt] No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
CA7660034
rs759768496
407 V>A No ClinGen
ExAC
gnomAD
CA7660035
rs759768496
407 V>D No ClinGen
ExAC
gnomAD
rs1402912656
CA393167318
407 V>I No ClinGen
gnomAD
rs752138293
CA7660039
409 V>E No ClinGen
ExAC
gnomAD
CA7660038
rs377527644
409 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1233676520
CA393167421
410 N>K No ClinGen
gnomAD
rs1220847965
CA393167469
412 W>* No ClinGen
TOPMed
rs748737498
CA7660042
414 V>G No ClinGen
ExAC
gnomAD
rs376674911
CA7660040
414 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7660041
rs376674911
414 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1052561630
CA272815679
415 N>S No ClinGen
TOPMed
gnomAD
CA393167568
rs1351879965
416 H>Y No ClinGen
TOPMed
rs1288583289
CA393167630
418 P>A No ClinGen
TOPMed
CA7660043
rs768486827
418 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA272816047
rs530650066
419 E>G No ClinGen
gnomAD
CA272816051
rs969721209
425 S>T No ClinGen
gnomAD
CA7660059
rs374433914
426 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 427 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145557631
CA7660062
428 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145557631
CA7660063
428 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7660061
rs149710194
428 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393169209
rs1468916294
430 E>A No ClinGen
TOPMed
rs1426774448
CA393169217
430 E>D No ClinGen
TOPMed
rs747837686
CA7660064
430 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA393169231
rs1328210184
431 R>L No ClinGen
gnomAD
rs1328210184
CA393169229
431 R>P No ClinGen
gnomAD
rs1328210184
CA393169228
431 R>Q No ClinGen
gnomAD
CA7660065
VAR_020796
rs28399424
COSM471061
431 R>W kidney allele CYP1A2*6; not detected when expressed in heterologous system as it may be critical for maintenance of protein tertiary structure [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7660068
rs201485133
432 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770969636
CA7660069
434 T>P No ClinGen
ExAC
gnomAD
TCGA novel 435 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775498266
CA7660073
436 D>G No ClinGen
ExAC
gnomAD
rs144148965
CA393169307
436 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7660072
rs144148965
436 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763246035
CA7660074
438 T>A No ClinGen
ExAC
gnomAD
rs45486893
CA7660075
VAR_020853
438 T>I allele CYP1A2*14 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs45486893
CA7660076
438 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763246035
CA393169336
438 T>P No ClinGen
ExAC
gnomAD
CA272816095
rs889339647
443 P>L No ClinGen
Ensembl
CA7660078
rs140757511
444 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7660079
rs750931037
445 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA393169495
rs1306066932
446 E>G No ClinGen
TOPMed
rs566851431
CA7660081
447 K>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7660082
rs752196823
COSM458961
448 M>I cervix [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA393169533
rs1167453607
448 M>L No ClinGen
TOPMed
gnomAD
rs1596359295
CA393169535
448 M>T No ClinGen
Ensembl
CA393169562
rs1314644872
449 M>I No ClinGen
gnomAD
CA7660083
rs758078387
449 M>L No ClinGen
ExAC
gnomAD
CA393169572
rs1373475971
450 L>P No ClinGen
gnomAD
rs1336741799
CA393169612
453 M>T No ClinGen
TOPMed
rs746882435
CA7660085
454 G>S No ClinGen
ExAC
gnomAD
rs367858322
CA7660086
456 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_025189
CA7660087
rs72547517
456 R>H allele CYP1A2*8 [UniProt] No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA7660092
rs745824533
457 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7660091
rs745824533
457 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7660088
VAR_055563
rs34151816
457 R>W No ClinGen
UniProt
1000Genomes
TOPMed
dbSNP
CA272816128
rs982089694
458 C>R No ClinGen
TOPMed
CA7660094
rs780107971
459 I>V No ClinGen
ExAC
COSM964897
rs768979898
CA7660096
460 G>R endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7660099
rs772597894
461 E>K No ClinGen
ExAC
gnomAD
rs199528490
CA7660100
462 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1455643099
CA393169798
464 A>D No ClinGen
gnomAD
rs752325643
CA7660103
465 K>T No ClinGen
ExAC
gnomAD
rs762359586
CA7660104
466 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs763859277
CA7660105
467 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1289271309
CA393169848
467 E>G No ClinGen
gnomAD
CA7660106
rs751143438
468 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA393169861
rs751143438
468 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs756883321
CA7660107
470 L>V No ClinGen
ExAC
gnomAD
rs780975619
CA7660108
473 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA393170027
rs1300577537
474 I>N No ClinGen
gnomAD
rs779953096
CA7660111
478 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA272816155
rs4646428
478 Q>H No ClinGen
Ensembl
rs768585881
CA7660113
479 L>P No ClinGen
ExAC
gnomAD
rs779013270
CA7660114
480 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA393170231
rs1253879147
482 S>G No ClinGen
gnomAD
CA393170245
rs1469949040
482 S>R No ClinGen
TOPMed
gnomAD
rs143028942
CA7660115
COSM434300
483 V>M Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA272816156
rs370476434
484 P>L No ClinGen
Ensembl
CA393170268
rs1252415879
484 P>S No ClinGen
gnomAD
CA7660117
rs773716931
485 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA393170292
rs773716931
485 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs140211191
CA7660119
486 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1451363283
CA393170305
486 G>S No ClinGen
gnomAD
rs571663822
CA7660121
RCV000918468
487 V>M No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA393170360
rs1323371696
488 K>E No ClinGen
gnomAD
CA272816157
rs960678173
489 V>I No ClinGen
Ensembl
rs763531887
CA7660122
490 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA393170429
rs1315589602
492 T>P No ClinGen
gnomAD
CA7660126
rs143193369
495 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
rs761456419
CA7660124
495 Y>C No ClinGen
ExAC
gnomAD
CA7660127
CA272816158
rs755880133
496 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs946810948
CA272816159
497 L>P No ClinGen
Ensembl
CA7660128
rs780006160
498 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1252607238
CA393170577
499 M>T No ClinGen
gnomAD
rs772253005
CA272816160
499 M>V No ClinGen
Ensembl
rs1181238166
COSM1374568
CA393170639
502 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA272816161
rs550827905
503 R>C No ClinGen
TOPMed
gnomAD
CA7660130
rs754897375
503 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA393170702
rs1162348403
505 E>K No ClinGen
gnomAD
CA393170737
rs1348874507
506 H>L No ClinGen
gnomAD
CA7660132
rs748192662
507 V>L No ClinGen
ExAC
gnomAD
CA7660133
rs200075745
508 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778132807
CA7660135
509 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1303192114
CA393170793
509 A>P No ClinGen
gnomAD
rs778132807
CA7660134
509 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7660138
rs374094758
510 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA272816163
rs374094758
510 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM964900
rs138459442
CA7660137
510 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7660139
rs770266566
512 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7660140
rs773795301
512 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1292978023
CA393170868
513 F>C No ClinGen
TOPMed
rs767206057
CA7660142
514 S>P No ClinGen
ExAC
gnomAD
rs1204339109
CA393170877
514 S>Y No ClinGen
TOPMed
gnomAD
rs35647699
CA7660143
515 I>V No ClinGen
ExAC
gnomAD
rs766110906
CA7660145
516 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1352233952
CA393170930
517 N>L No ClinGen
gnomAD
CA393170924
rs1171948620
517 N>R No ClinGen
gnomAD

No associated diseases with P05177

1 regional properties for P05177

Type Name Position InterPro Accession
conserved_site Cytochrome P450, conserved site 451 - 460 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

2 GO annotations of cellular component

Name Definition
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.

13 GO annotations of molecular function

Name Definition
aromatase activity Catalysis of the reduction of an aliphatic ring to yield an aromatic ring.
caffeine oxidase activity Catalysis of the reaction: caffeine + O2 + 2 H+ + 2 e- = 1,3,7-trimethyluric acid + H2O.
demethylase activity Catalysis of the removal of a methyl group from a substrate.
electron transfer activity Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
estrogen 16-alpha-hydroxylase activity Catalysis of the reaction: estrogen + donor-H2 + O2 = 16-alpha-hydroxyestrogen + H2O.
estrogen 2-hydroxylase activity Catalysis of the reaction: estrogen + donor-H2 + O2 = 2-hydroxyestrogen + H2O.
heme binding Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
hydroperoxy icosatetraenoate dehydratase activity A hydroperoxy icosatetraenoate <=> an oxoicosatetraenoate + H(2)O.
iron ion binding Binding to an iron (Fe) ion.
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.
oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor.

25 GO annotations of biological process

Name Definition
aflatoxin metabolic process The chemical reactions and pathways involving aflatoxin, a fungal metabolite found as a contaminant in moldy grains that induces liver cancer. Aflatoxin induces a G to T transversion at codon 249 of p53, leading to its inactivation. Aflatoxin is converted to a chemical carcinogen by P450.
alkaloid metabolic process The chemical reactions and pathways involving alkaloids, nitrogen containing natural products which are not otherwise classified as peptides, nonprotein amino acids, amines, cyanogenic glycosides, glucosinolates, cofactors, phytohormones or primary metabolites (such as purine or pyrimidine bases).
cellular respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration).
cellular response to cadmium ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cadmium (Cd) ion stimulus.
cholesterol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.
dibenzo-p-dioxin metabolic process The chemical reactions and pathways involving dibenzo-p-dioxin, a substance composed of two benzene rings linked by two ether bonds. Dibenzo-p-dioxins are generated as by-products in the manufacturing of herbicides, insecticides, fungicides, paper pulp bleaching, and in incineration, and can accumulate in milk and throughout the food chain, creating significant health concern.
epoxygenase P450 pathway The chemical reactions and pathways by which arachidonic acid is converted to other compounds including epoxyeicosatrienoic acids and dihydroxyeicosatrienoic acids.
estrogen metabolic process The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants.
heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).
hydrogen peroxide biosynthetic process The chemical reactions and pathways resulting in the formation of hydrogen peroxide (H2O2), a potentially harmful byproduct of aerobic cellular respiration which can cause damage to DNA.
long-chain fatty acid biosynthetic process The chemical reactions and pathways resulting in the formation of long-chain fatty acids, any fatty acid with a chain length between C13 and C22.
lung development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.
methylation The process in which a methyl group is covalently attached to a molecule.
monocarboxylic acid metabolic process The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-).
monoterpenoid metabolic process The chemical reactions and pathways involving monoterpenoid compounds, terpenoids having a C10 skeleton.
omega-hydroxylase P450 pathway The chemical reactions and pathways by which arachidonic acid is converted to other compounds initially by omega-hydroxylation.
oxidative demethylation The process of removing one or more methyl groups from a molecule, involving the oxidation (i.e. electron loss) of one or more atoms in the substrate.
porphyrin-containing compound metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group.
post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
retinol metabolic process The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A.
steroid catabolic process The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.
toxin biosynthetic process The chemical reactions and pathways resulting in the formation of toxin, a poisonous compound (typically a protein) that is produced by cells or organisms and that can cause disease when introduced into the body or tissues of an organism.
xenobiotic catabolic process The chemical reactions and pathways resulting in the breakdown of a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic metabolic process The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

52 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0IIF9 CYP2U1 Cytochrome P450 2U1 Bos taurus (Bovine) PR
O18963 CYP2E1 Cytochrome P450 2E1 Bos taurus (Bovine) PR
P12394 CYP17A1 Steroid 17-alpha-hydroxylase/17,20 lyase Gallus gallus (Chicken) PR
Q95078 Cyp18a1 Cytochrome P450 18a1 Drosophila melanogaster (Fruit fly) PR
P33260 CYP2C18 Cytochrome P450 2C18 Homo sapiens (Human) PR
Q7Z449 CYP2U1 Cytochrome P450 2U1 Homo sapiens (Human) PR
P05093 CYP17A1 Steroid 17-alpha-hydroxylase/17,20 lyase Homo sapiens (Human) PR
P51589 CYP2J2 Cytochrome P450 2J2 Homo sapiens (Human) PR
P10632 CYP2C8 Cytochrome P450 2C8 Homo sapiens (Human) PR
P05181 CYP2E1 Cytochrome P450 2E1 Homo sapiens (Human) PR
Q9D816 Cyp2c55 Cytochrome P450 2C55 Mus musculus (Mouse) PR
P27786 Cyp17a1 Steroid 17-alpha-hydroxylase/17,20 lyase Mus musculus (Mouse) PR
O54749 Cyp2j5 Cytochrome P450 2J5 Mus musculus (Mouse) PR
O54750 Cyp2j6 Cytochrome P450 2J6 Mus musculus (Mouse) PR
P24456 Cyp2d10 Cytochrome P450 2D10 Mus musculus (Mouse) PR
Q9CX98 Cyp2u1 Cytochrome P450 2U1 Mus musculus (Mouse) PR
P24457 Cyp2d11 Cytochrome P450 2D11 Mus musculus (Mouse) PR
P79383 CYP2E1 Cytochrome P450 2E1 Sus scrofa (Pig) PR
P33273 Cyp2c55 Cytochrome P450 2C55 Rattus norvegicus (Rat) PR
P05182 Cyp2e1 Cytochrome P450 2E1 Rattus norvegicus (Rat) PR
P24470 Cyp2c23 Cytochrome P450 2C23 Rattus norvegicus (Rat) PR
P11715 Cyp17a1 Steroid 17-alpha-hydroxylase/17,20 lyase Rattus norvegicus (Rat) PR
P12939 Cyp2d10 Cytochrome P450 2D10 Rattus norvegicus (Rat) PR
P10633 Cyp2d1 Cytochrome P450 2D1 Rattus norvegicus (Rat) PR
P05179 Cyp2c7 Cytochrome P450 2C7 Rattus norvegicus (Rat) PR
P12938 Cyp2d3 Cytochrome P450 2D3 Rattus norvegicus (Rat) PR
O35293 Cyp2f2 Cytochrome P450 2F2 Rattus norvegicus (Rat) PR
P20814 Cyp2c13 Cytochrome P450 2C13, male-specific Rattus norvegicus (Rat) PR
Q8HYM9 CYP17A1 Steroid 17-alpha-hydroxylase/17,20 lyase Macaca mulatta (Rhesus macaque) PR
Q6YV88 CYP71Z7 Ent-cassadiene hydroxylase Oryza sativa subsp japonica (Rice) PR
A3A871 CYP71Z6 Ent-isokaurene C2/C3-hydroxylase Oryza sativa subsp japonica (Rice) PR
Q7X7X4 CYP99A2 Cytochrome P450 99A2 Oryza sativa subsp japonica (Rice) PR
O48957 CYP99A1 Cytochrome P450 CYP99A1 Sorghum bicolor (Sorghum) (Sorghum vulgare) PR
Q42797 CYP73A11 Trans-cinnamate 4-monooxygenase Glycine max (Soybean) (Glycine hispida) PR
Q9XHC6 CYP93E1 Beta-amyrin 24-hydroxylase Glycine max (Soybean) (Glycine hispida) PR
O81971 CYP71D9 Cytochrome P450 71D9 Glycine max (Soybean) (Glycine hispida) PR
O48922 CYP98A2 Cytochrome P450 98A2 Glycine max (Soybean) (Glycine hispida) PR
O49340 CYP71A12 Cytochrome P450 71A12 Arabidopsis thaliana (Mouse-ear cress) PR
O64638 CYP76C3 Cytochrome P450 76C3 Arabidopsis thaliana (Mouse-ear cress) PR
P58049 CYP71B11 Cytochrome P450 71B11 Arabidopsis thaliana (Mouse-ear cress) PR
P58050 CYP71B13 Cytochrome P450 71B13 Arabidopsis thaliana (Mouse-ear cress) PR
Q96514 CYP71B7 Cytochrome P450 71B7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9CA61 CYP98A8 Cytochrome P450 98A8 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LTM0 CYP71B23 Cytochrome P450 71B23 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LTM6 CYP71B17 Cytochrome P450 71B17 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LTM7 CYP71B16 Cytochrome P450 71B16 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LVD2 CYP71B10 Cytochrome P450 71B10 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SAE4 CYP71B29 Cytochrome P450 71B29 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SRQ1 CYP89A9 Cytochrome P450 89A9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZU07 CYP71B12 Cytochrome P450 71B12 Arabidopsis thaliana (Mouse-ear cress) PR
O64636 CYP76C1 Cytochrome P450 76C1 Arabidopsis thaliana (Mouse-ear cress) PR
Q949U1 CYP79F1 Dihomomethionine N-hydroxylase Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MALSQSVPFS ATELLLASAI FCLVFWVLKG LRPRVPKGLK SPPEPWGWPL LGHVLTLGKN
70 80 90 100 110 120
PHLALSRMSQ RYGDVLQIRI GSTPVLVLSR LDTIRQALVR QGDDFKGRPD LYTSTLITDG
130 140 150 160 170 180
QSLTFSTDSG PVWAARRRLA QNALNTFSIA SDPASSSSCY LEEHVSKEAK ALISRLQELM
190 200 210 220 230 240
AGPGHFDPYN QVVVSVANVI GAMCFGQHFP ESSDEMLSLV KNTHEFVETA SSGNPLDFFP
250 260 270 280 290 300
ILRYLPNPAL QRFKAFNQRF LWFLQKTVQE HYQDFDKNSV RDITGALFKH SKKGPRASGN
310 320 330 340 350 360
LIPQEKIVNL VNDIFGAGFD TVTTAISWSL MYLVTKPEIQ RKIQKELDTV IGRERRPRLS
370 380 390 400 410 420
DRPQLPYLEA FILETFRHSS FLPFTIPHST TRDTTLNGFY IPKKCCVFVN QWQVNHDPEL
430 440 450 460 470 480
WEDPSEFRPE RFLTADGTAI NKPLSEKMML FGMGKRRCIG EVLAKWEIFL FLAILLQQLE
490 500 510
FSVPPGVKVD LTPIYGLTMK HARCEHVQAR LRFSIN