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 Q5TCH4

Entry ID Method Resolution Chain Position Source
AF-Q5TCH4-F1 Predicted AlphaFoldDB

514 variants for Q5TCH4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs765156370
CA840836
2 S>N No ClinGen
ExAC
gnomAD
rs762999985
CA340235310
3 V>F No ClinGen
ExAC
rs762999985
CA840838
3 V>I No ClinGen
ExAC
CA340235324
rs1251560374
4 S>A No ClinGen
gnomAD
rs764185261
CA840839
4 S>Y No ClinGen
ExAC
gnomAD
rs1046358292
CA22026409
7 S>N No ClinGen
TOPMed
rs546712111
CA22026410
8 P>S No ClinGen
1000Genomes
TOPMed
rs546712111
CA340235383
8 P>T No ClinGen
1000Genomes
TOPMed
CA840841
rs571296678
9 S>I No ClinGen
1000Genomes
ExAC
gnomAD
rs199572592
CA840843
9 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs76011927
VAR_044349
CA840844
11 R>C allele CYP4A22*2 and CYP4A22*3 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA840845
rs200538871
11 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340235450
rs200538871
11 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200121806
CA22026468
14 G>A No ClinGen
1000Genomes
TOPMed
gnomAD
rs749856086
CA840846
14 G>C No ClinGen
ExAC
gnomAD
CA22026467
rs200121806
14 G>D No ClinGen
1000Genomes
TOPMed
gnomAD
rs200121806
CA22026469
14 G>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA340235515
rs1366799781
15 V>I No ClinGen
gnomAD
CA736320232
rs1201595916
16 S>* No ClinGen
TOPMed
rs1309271312
CA340235560
16 S>F No ClinGen
gnomAD
CA840853
rs770606110
17 G>E No ClinGen
ExAC
gnomAD
CA22026495
CA840851
rs369829008
17 G>R No ClinGen
1000Genomes
TOPMed
CA840855
rs759296620
18 I>T No ClinGen
ExAC
gnomAD
CA340235654
rs1205509549
20 Q>R No ClinGen
TOPMed
CA22026512
rs1018478866
21 V>A No ClinGen
TOPMed
gnomAD
CA340235673
rs1018478866
21 V>G No ClinGen
TOPMed
gnomAD
CA22026524
rs964360299
22 T>A No ClinGen
TOPMed
CA840856
rs769626452
23 S>F No ClinGen
ExAC
gnomAD
rs1263254350
CA340235735
26 I>M No ClinGen
gnomAD
TCGA novel 28 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762906910
CA840858
32 I>F No ClinGen
ExAC
gnomAD
CA840860
rs141897799
33 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA840861
rs761854619
34 A>V No ClinGen
ExAC
gnomAD
rs767845138
CA840862
35 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA340235872
rs1297201537
40 H>N No ClinGen
gnomAD
rs368458255
CA840867
45 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779348753
CA840868
46 K>R No ClinGen
ExAC
gnomAD
rs534701920
CA840871
47 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA840870
rs534701920
47 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA840869
rs137980355
47 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs137980355
CA340236019
47 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340236037
rs1485938745
COSM1321007
48 L>F ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs745474045
CA840872
49 Q>E No ClinGen
ExAC
gnomAD
rs1245883076
CA340236067
50 Q>* No ClinGen
TOPMed
gnomAD
rs1245883076
CA340236065
50 Q>E No ClinGen
TOPMed
gnomAD
CA840873
rs769468020
50 Q>H No ClinGen
ExAC
gnomAD
CA840874
rs775199086
52 P>L No ClinGen
ExAC
gnomAD
rs144569653
CA840876
54 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340236175
rs774220009
55 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA840877
rs774220009
55 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3944152
CA340236201
rs1319978192
56 S>F ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
CA840880
rs148805480
57 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1461947382
CA340236224
57 H>Q No ClinGen
TOPMed
CA840879
rs148805480
57 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA840882
rs766725560
58 W>C No ClinGen
ExAC
gnomAD
rs760916578
CA840881
58 W>R No ClinGen
ExAC
gnomAD
rs1226947560
CA340236252
59 L>V No ClinGen
gnomAD
CA340236267
rs1309863995
60 F>L No ClinGen
gnomAD
CA340236289
rs112604161
CA840884
61 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765744521
CA840885
63 I>F No ClinGen
ExAC
gnomAD
TCGA novel
rs1215996583
CA340236811
66 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
rs370585374
CA840920
CA340236854
68 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340236867
rs763365225
69 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs373881337
CA840921
69 D>N No ClinGen
ESP
ExAC
gnomAD
CA840923
rs764578626
70 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs56258513
CA840924
72 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA22028445
rs993202547
72 L>P No ClinGen
TOPMed
COSM243946
rs765755173
CA840926
74 R>Q Variant assessed as Somatic; 4.62e-05 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA840925
rs377043739
74 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs568254542
CA840927
77 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM291802
rs201122681
CA840929
78 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs200383147
CA840928
78 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA840930
rs547934003
80 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA840931
rs192345500
81 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs777833770
CA840933
85 A>P No ClinGen
ExAC
gnomAD
rs746895963
CA840934
85 A>V No ClinGen
ExAC
gnomAD
CA340237110
rs1364009914
88 Y>H No ClinGen
TOPMed
gnomAD
CA340237137
rs1316905071
89 W>C No ClinGen
gnomAD
rs745974402
CA840938
90 I>K No ClinGen
ExAC
TOPMed
gnomAD
CA840936
rs781066663
90 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA840937
rs745974402
90 I>R No ClinGen
ExAC
TOPMed
gnomAD
CA22028518
rs866281074
91 W>* No ClinGen
gnomAD
CA340237150
CA840939
rs775848300
91 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1210654743
CA340237168
93 G>D No ClinGen
gnomAD
rs756314227
CA22028523
94 K>* No ClinGen
Ensembl
rs780190981
COSM1343194
CA840940
96 R>C Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs564518259
CA840942
96 R>H No ClinGen
ExAC
gnomAD
rs564518259
CA840941
96 R>P No ClinGen
ExAC
gnomAD
CA340237850
rs1186857512
97 V>A No ClinGen
gnomAD
rs768070119
CA840944
98 Q>* No ClinGen
ExAC
gnomAD
rs759156135
CA840946
100 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA340237940
rs1320650403
101 D>E No ClinGen
gnomAD
CA340237947
rs1387198359
102 P>A No ClinGen
gnomAD
CA840947
rs61507155
VAR_061045
104 Y>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA22028565
rs61507155
104 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340238017
rs1340883775
105 M>T No ClinGen
gnomAD
CA840948
rs752449954
110 G>R No ClinGen
ExAC
gnomAD
rs1282414705
CA340238138
111 R>K No ClinGen
gnomAD
CA840949
rs758148526
112 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA840967
rs762627393
113 D>E No ClinGen
ExAC
gnomAD
CA340238185
rs1211272692
113 D>H No ClinGen
TOPMed
COSM1627101
rs570043566
CA840968
114 P>L liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA340238358
rs1557646140
115 K>* No ClinGen
Ensembl
rs549333757
CA840970
117 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1183583918
CA340238384
117 H>Y No ClinGen
TOPMed
gnomAD
CA340238443
rs1463573354
119 S>C No ClinGen
TOPMed
VAR_044350
CA840972
rs2758717
121 K>R No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA840973
CA840974
rs756026269
122 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs749372717
CA840975
123 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA340238522
rs749372717
123 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA840976
rs368794910
124 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340238559
rs1372223535
125 P>R No ClinGen
gnomAD
rs748432726
CA840978
126 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs12564525
CA840977
VAR_044351
126 R>W allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA841009
rs2056900
130 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753825027
CA841010
130 G>D No ClinGen
ExAC
gnomAD
CA340238906
rs2056900
130 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841008
rs2056900
VAR_044352
130 G>S allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA841011
CA340238942
rs759496666
131 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs897652439
CA22029373
131 L>V No ClinGen
TOPMed
rs1231938047
CA340239085
137 Q>* No ClinGen
gnomAD
rs752724599
CA841013
137 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758588354
CA841014
138 T>I No ClinGen
ExAC
gnomAD
rs1049441295
CA22029408
139 W>* No ClinGen
TOPMed
rs371221965
CA841015
139 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340239226
rs1245790459
141 Q>H No ClinGen
TOPMed
gnomAD
rs1484143980
CA340239242
142 H>P No ClinGen
gnomAD
CA340239239
rs1557646663
142 H>Y No ClinGen
Ensembl
CA340239254
rs1182232056
143 R>* No ClinGen
gnomAD
COSM122467
CA841016
rs138940178
143 R>Q upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841018
rs781758484
144 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs781758484
CA22029414
144 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs147010308
CA841017
144 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841019
rs746327819
CA841020
145 M>L No ClinGen
ExAC
gnomAD
rs778416551
CA841021
147 T>I No ClinGen
ExAC
gnomAD
rs1569803710
CA340239336
147 T>P No ClinGen
Ensembl
rs2056899
CA340239456
152 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841023
rs771740217
152 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
VAR_044353
rs2056899
CA841022
152 N>Y allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200279801
CA841024
153 D>Y No ClinGen
ExAC
gnomAD
CA340239487
rs1290717985
154 I>N No ClinGen
gnomAD
CA340239552
rs2758715
CA841029
158 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA841028
rs759406647
158 Y>F No ClinGen
ExAC
gnomAD
rs751777511
CA841033
159 V>A No ClinGen
ExAC
gnomAD
rs763011921
CA841032
COSM3700747
159 V>L liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA841031
rs763011921
159 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs757574338
CA841034
160 G>E No ClinGen
ExAC
gnomAD
CA22029502
rs376345723
161 L>R No ClinGen
Ensembl
rs189269010
CA22029503
162 M>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA340239626
rs1405806751
163 A>V No ClinGen
gnomAD
TCGA novel 165 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340239671
rs1298383816
166 V>L No ClinGen
TOPMed
gnomAD
rs771031011
CA841035
167 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA841036
rs201496093
167 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs571262150
CA841055
173 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340240388
rs1476775415
173 W>R No ClinGen
gnomAD
CA841056
rs377172013
176 L>F No ClinGen
ESP
ExAC
gnomAD
CA340240436
rs1221295385
177 L>I No ClinGen
TOPMed
CA841057
rs754252488
177 L>P No ClinGen
ExAC
gnomAD
rs755543244
CA841058
178 G>S No ClinGen
ExAC
gnomAD
rs777084778
CA841060
180 D>H No ClinGen
ExAC
gnomAD
rs777084778
CA841059
180 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs886098830
CA22030150
181 S>F No ClinGen
TOPMed
gnomAD
rs201572429
CA22030161
182 P>L No ClinGen
Ensembl
rs780889935
CA841062
184 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs4926581
CA841063
VAR_044354
185 V>F allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4926581
CA340240549
185 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769528188
CA841064
186 F>L No ClinGen
ExAC
gnomAD
rs775375934
CA841065
187 Q>* No ClinGen
ExAC
gnomAD
rs749138787
CA841066
189 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA841067
rs768642561
190 S>F No ClinGen
ExAC
gnomAD
CA340240696
rs1475274017
191 L>V No ClinGen
gnomAD
rs1166712716
CA340240708
191 L>W No ClinGen
gnomAD
rs1416583656
CA340240754
193 T>A No ClinGen
gnomAD
CA841069
rs774514132
195 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA841070
rs762037223
196 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs772416181
CA841071
198 M>T No ClinGen
ExAC
gnomAD
CA841073
rs761075456
200 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA340240927
rs1224945328
200 S>R No ClinGen
gnomAD
CA841074
rs200757417
201 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA841075
rs754237745
203 S>G No ClinGen
ExAC
gnomAD
rs1272653870
CA340240983
203 S>I No ClinGen
gnomAD
CA340240991
rs1210867872
204 H>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs575378698
CA841076
205 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA22030283
rs1015934282
205 Q>P No ClinGen
TOPMed
gnomAD
rs765792185
CA841078
208 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs765792185
CA22030311
208 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs751065012
CA841079
209 Q>K No ClinGen
ExAC
gnomAD
CA841080
rs756801439
210 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA340241151
rs756801439
210 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 211 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA841082
rs780802083
212 R>K No ClinGen
ExAC
gnomAD
CA841081
rs780802083
212 R>T No ClinGen
ExAC
gnomAD
CA340241425
rs1286885581
216 S>P No ClinGen
TOPMed
CA340241468
rs1276803164
218 I>L No ClinGen
gnomAD
rs748046944
CA841106
218 I>N No ClinGen
ExAC
gnomAD
CA22030676
rs199792812
219 Q>* No ClinGen
1000Genomes
gnomAD
CA841111
rs369774561
221 I>F No ClinGen
ESP
ExAC
gnomAD
rs369774561
CA841110
221 I>V No ClinGen
ESP
ExAC
gnomAD
CA340241582
rs1352230697
222 S>N No ClinGen
TOPMed
rs1416762133
CA340241606
223 D>A No ClinGen
TOPMed
gnomAD
rs146477822
CA841112
223 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1249248656
COSM1343196
CA340241594
223 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA340241625
rs776953073
224 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA841115
VAR_044355
rs35202523
226 S>N No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA841116
rs775861962
226 S>R No ClinGen
ExAC
gnomAD
rs763383232
CA841117
227 L>P No ClinGen
ExAC
gnomAD
rs772583047
CA841119
228 V>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 230 C>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1389725991
CA340241764
230 C>G No ClinGen
TOPMed
gnomAD
TCGA novel 230 C>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs35156123
CA22030728
VAR_044356
230 C>S No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
rs765912026
CA340241803
231 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA841120
rs10789501
VAR_044357
231 C>R allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA340241788
rs10789501
231 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765912026
CA841121
231 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA340241821
rs191687330
232 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA841122
rs191687330
232 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765059748
CA841124
234 N>S No ClinGen
ExAC
gnomAD
rs752556492
CA841125
235 A>T No ClinGen
ExAC
TOPMed
CA841126
rs183880611
236 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA841127
rs777837250
237 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA340241919
rs1479406516
237 H>Y No ClinGen
gnomAD
CA340241947
rs1191318638
238 E>D No ClinGen
gnomAD
CA841129
rs757407453
238 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs143425502
CA841130
240 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs746052339
CA841131
240 D>V No ClinGen
ExAC
gnomAD
CA340241983
rs1569808408
241 T>P No ClinGen
Ensembl
CA340241991
rs1283583411
241 T>S No ClinGen
TOPMed
CA841133
rs199906672
242 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs770005682
CA841132
242 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs749710175
CA841134
243 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 243 Y>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA841135
rs769147059
244 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA841136
rs550279903
245 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550279903
CA22030825
245 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760078696
CA841137
246 T>I No ClinGen
ExAC
gnomAD
CA340242055
rs1569808521
246 T>P No ClinGen
Ensembl
rs1557647941
CA340242152
249 G>D No ClinGen
Ensembl
rs765043322
CA841141
250 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA841142
rs569148380
250 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340242173
rs569148380
250 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA841143
rs758308317
251 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs138579860
CA841144
252 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1569808671
CA340242244
253 H>P No ClinGen
Ensembl
rs1333483063
CA340242266
254 R>C No ClinGen
TOPMed
gnomAD
CA841145
rs536116490
254 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781263992
CA340242286
255 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA340242275
rs376758503
255 A>P No ClinGen
ESP
TOPMed
gnomAD
CA22030876
rs376758503
255 A>T No ClinGen
ESP
TOPMed
gnomAD
CA841147
rs781263992
255 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA841149
rs756315173
256 C>R No ClinGen
ExAC
gnomAD
rs1290048673
CA340242347
257 Q>L No ClinGen
TOPMed
gnomAD
CA340242340
rs1290048673
257 Q>P No ClinGen
TOPMed
gnomAD
CA22030892
rs554345540
259 A>P No ClinGen
1000Genomes
CA340242389
rs1359389946
259 A>V No ClinGen
TOPMed
CA22030893
rs982039925
260 H>L No ClinGen
TOPMed
CA841151
rs147311489
261 Q>K No ClinGen
ESP
ExAC
rs779166657
CA841153
263 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA841176
rs778465891
264 D>A No ClinGen
ExAC
gnomAD
CA340242553
rs745354214
264 D>E No ClinGen
ExAC
gnomAD
rs769383660
CA841178
265 Q>K No ClinGen
ExAC
gnomAD
rs1484659308
CA522612590
266 V>* No ClinGen
gnomAD
CA841180
rs375004222
270 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA841181
rs768203901
270 R>K No ClinGen
ExAC
gnomAD
CA340242606
rs1174666948
271 K>* No ClinGen
gnomAD
CA841184
rs570937997
275 Q>* No ClinGen
1000Genomes
ExAC
CA340242642
rs1310359568
275 Q>P No ClinGen
gnomAD
CA841186
rs6661132
276 K>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_044358
CA841185
rs6661132
276 K>T allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA841188
rs760627269
277 E>D No ClinGen
ExAC
gnomAD
CA841189
CA340242663
rs766404686
278 G>R No ClinGen
ExAC
gnomAD
rs556570340
CA841190
284 K>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1438532970
CA340242720
284 K>N No ClinGen
TOPMed
gnomAD
CA340242719
rs556570340
284 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340242726
rs1203915857
285 R>K No ClinGen
gnomAD
CA340242736
rs1342426426
286 K>R No ClinGen
gnomAD
rs755217084
CA841192
287 R>G No ClinGen
ExAC
rs200832137
CA841194
288 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1394900118
CA340242765
289 L>F No ClinGen
gnomAD
TCGA novel 290 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753076403
CA841195
290 D>Y No ClinGen
ExAC
gnomAD
rs1182344907
CA340242777
291 F>S No ClinGen
TOPMed
CA841196
rs758739769
292 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA841197
rs778308717
293 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA340242799
rs1167722685
294 I>V No ClinGen
gnomAD
rs1557648525
CA340242819
296 L>H No ClinGen
Ensembl
CA340242817
rs1351068577
296 L>V No ClinGen
gnomAD
rs1285432563
CA340242973
300 M>I No ClinGen
gnomAD
CA841224
rs747714590
301 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA841226
rs772931089
305 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA841227
rs746874675
306 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs776482741
CA841229
307 S>L No ClinGen
ExAC
gnomAD
CA841231
rs765195499
308 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs759540673
CA841230
308 D>G No ClinGen
ExAC
gnomAD
CA340243132
rs1158753349
310 D>E No ClinGen
TOPMed
gnomAD
rs1384033286
CA340243136
311 L>F No ClinGen
gnomAD
rs775647945
CA841232
312 R>C No ClinGen
ExAC
gnomAD
CA841233
rs140149915
312 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA841234
rs764470979
313 A>T No ClinGen
ExAC
gnomAD
CA841235
rs751965673
314 E>* No ClinGen
ExAC
gnomAD
rs762306533
CA841236
314 E>D No ClinGen
ExAC
gnomAD
rs1353601040
CA340243162
315 V>M No ClinGen
gnomAD
rs768112609
CA841238
317 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA841237
rs768112609
317 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 318 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340243250
rs1282841765
319 M>I No ClinGen
gnomAD
CA841241
rs752263315
319 M>T No ClinGen
ExAC
gnomAD
CA841240
rs778219609
319 M>V No ClinGen
ExAC
gnomAD
rs758031619
CA841242
321 E>K No ClinGen
ExAC
gnomAD
CA340243304
rs1296184837
322 G>S No ClinGen
gnomAD
rs1254825012
CA340243311
322 G>V No ClinGen
gnomAD
CA340243331
rs968322
CA340243334
323 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA841246
rs770664416
324 D>E No ClinGen
ExAC
gnomAD
rs375999051
CA841245
324 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340243351
rs1260551974
324 D>V No ClinGen
TOPMed
rs781073103
CA841247
325 T>P No ClinGen
ExAC
gnomAD
rs745730799
CA841248
326 T>P No ClinGen
ExAC
gnomAD
CA340243383
rs1234402325
326 T>R No ClinGen
TOPMed
rs1395405207
CA340243398
327 A>V No ClinGen
gnomAD
CA22031508
rs769786424
329 G>E No ClinGen
ExAC
TOPMed
COSM3360939
CA841250
rs769786424
329 G>V kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
CA841251
rs369645508
330 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768964816
CA841253
331 S>F No ClinGen
ExAC
gnomAD
CA841252
rs763189351
331 S>P No ClinGen
ExAC
gnomAD
CA340243500
CA841254
rs774759365
332 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA340243535
rs1344350397
334 L>F No ClinGen
TOPMed
rs762145254
CA841255
334 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA340243549
rs762145254
334 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs767733132
CA841256
335 Y>* No ClinGen
ExAC
gnomAD
CA340243565
rs1306121257
335 Y>C No ClinGen
gnomAD
rs546435756
CA841257
336 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1195880580
CA340243639
338 A>T No ClinGen
gnomAD
rs752173609
CA841260
338 A>V No ClinGen
ExAC
gnomAD
rs756911556
CA841264
340 H>Q No ClinGen
ExAC
gnomAD
CA841263
rs751173345
340 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs777286981
CA841262
340 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA340243721
rs1480208945
341 P>H No ClinGen
TOPMed
CA841265
rs369004314
341 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 341 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA841266
rs745735706
343 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs1195383964
CA340243794
345 E>K No ClinGen
TOPMed
rs1168590646
CA340243820
COSM910396
347 C>* Variant assessed as Somatic; 9.24e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs201521465
CA841270
348 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA841268
rs372905572
348 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 349 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1395812815
CA340243833
349 E>Q No ClinGen
gnomAD
CA340243883
rs56085413
352 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs377127501
CA22031576
353 G>C No ClinGen
ESP
TOPMed
gnomAD
CA340243897
rs1328141052
353 G>D No ClinGen
TOPMed
gnomAD
rs377127501
CA340243888
353 G>S No ClinGen
ESP
TOPMed
gnomAD
rs370559458
CA841273
355 L>P No ClinGen
ESP
ExAC
gnomAD
rs1299565403
CA340243949
356 G>D No ClinGen
gnomAD
CA841274
rs532237456
358 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA841275
rs773433358
359 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA340243989
rs773433358
359 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA22031583
rs200956466
361 I>T No ClinGen
TOPMed
rs761167111
CA841276
362 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1215230960
CA340244022
362 T>P No ClinGen
gnomAD
rs761167111
CA340244025
362 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1557649090
CA340244318
363 W>C No ClinGen
Ensembl
rs773849395
CA841299
365 H>N No ClinGen
ExAC
gnomAD
CA340244340
rs1162907688
366 L>P No ClinGen
gnomAD
CA841300
rs761428966
366 L>V No ClinGen
ExAC
gnomAD
CA841301
rs570554271
368 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340244365
rs1454620087
369 M>I No ClinGen
gnomAD
rs1288867081
CA340244373
370 P>L No ClinGen
gnomAD
rs1227057139
CA340244385
372 T>I No ClinGen
TOPMed
gnomAD
CA841302
rs750042028
374 M>R No ClinGen
ExAC
gnomAD
rs1226305369
CA340244410
376 I>L No ClinGen
gnomAD
rs755749594
CA841303
376 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA22031664
rs967716185
378 E>D No ClinGen
TOPMed
CA340244431
rs1317364810
379 A>T No ClinGen
gnomAD
rs1447033815
CA340244444
381 R>K No ClinGen
TOPMed
rs1283547573
CA340244451
382 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA841305
rs377641755
382 L>R No ClinGen
ESP
ExAC
gnomAD
rs1557649162
CA340244470
385 P>A No ClinGen
Ensembl
rs61736431
CA841307
385 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1485375524
CA340244473
386 V>M No ClinGen
gnomAD
TCGA novel 387 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1180401559
CA340244488
388 G>D No ClinGen
gnomAD
CA340244485
rs1481167725
388 G>S No ClinGen
TOPMed
rs926412144
CA22031691
389 I>T No ClinGen
TOPMed
gnomAD
CA340244523
rs1158861005
393 L>R No ClinGen
gnomAD
CA841310
rs758456855
394 S>R No ClinGen
ExAC
gnomAD
CA340244528
rs1378807264
394 S>T No ClinGen
gnomAD
rs1313994102
CA340244532
395 T>A No ClinGen
gnomAD
rs141856283
CA841312
COSM1474050
397 V>I Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs939106012
CA22031699
401 D>G No ClinGen
TOPMed
rs1361582544
CA340244568
401 D>N No ClinGen
TOPMed
rs148459778
CA841313
402 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148459778
CA340244579
402 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371439568
CA841314
403 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA841315
rs375392496
403 R>H No ClinGen
ESP
TOPMed
gnomAD
rs371439568
CA340244580
403 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA841318
rs770257448
405 L>* No ClinGen
ExAC
gnomAD
rs1306848505
CA340244597
405 L>F No ClinGen
gnomAD
TCGA novel 406 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340244599
rs1569812830
406 P>T No ClinGen
Ensembl
rs776023387
CA841319
407 K>* No ClinGen
ExAC
gnomAD
rs1234996955
CA340244608
407 K>R No ClinGen
gnomAD
rs765059695
CA841344
409 I>M No ClinGen
ExAC
gnomAD
CA340244643
rs1427069828
410 M>I No ClinGen
TOPMed
rs752448693
CA841345
410 M>T No ClinGen
ExAC
gnomAD
CA841347
rs764009214
413 L>I No ClinGen
ExAC
gnomAD
rs112631646
CA841348
414 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750600674
CA841351
417 G>S No ClinGen
ExAC
gnomAD
rs756331644
CA841352
418 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs780404999
CA841353
CA340244698
419 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA22032397
rs200686099
421 N>H No ClinGen
gnomAD
CA340244712
rs1289669941
421 N>K No ClinGen
TOPMed
gnomAD
rs1450216767
CA340244729
424 V>L No ClinGen
gnomAD
rs369051627
CA841354
426 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 426 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340244749
rs1243200583
427 N>D No ClinGen
TOPMed
gnomAD
rs143777632
CA340244751
427 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1162624609
CA340244754
427 N>K No ClinGen
TOPMed
gnomAD
CA841355
rs143777632
427 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_044359
rs2405599
CA841356
428 L>P allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA340244757
rs2405599
428 L>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2405599
CA340244758
428 L>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1457976430
CA340244765
429 E>D No ClinGen
gnomAD
CA841357
rs746495343
429 E>G No ClinGen
ExAC
gnomAD
rs1366357088
CA340244780
430 V>G No ClinGen
gnomAD
CA340244777
rs557697033
CA841373
430 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA340244790
rs1569815388
432 D>A No ClinGen
Ensembl
CA841376
rs780837392
432 D>E No ClinGen
ExAC
gnomAD
rs748598921
CA841375
432 D>H No ClinGen
ExAC
gnomAD
rs748598921
CA841374
432 D>N No ClinGen
ExAC
gnomAD
rs138826010
CA841377
434 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA841379
rs199782847
435 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs150794228
CA841380
COSM3771765
435 R>H pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841378
rs199782847
435 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA841381
rs149509404
436 F>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841383
rs148627284
438 P>L No ClinGen
1000Genomes
ESP
TOPMed
rs774132925
CA841382
438 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs767498373
CA841386
439 G>A No ClinGen
ExAC
gnomAD
CA340244828
rs767498373
439 G>V No ClinGen
ExAC
gnomAD
TCGA novel 442 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569815513
CA340244855
443 H>P No ClinGen
Ensembl
CA841388
CA841387
rs147763791
443 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 443 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340244869
rs753957494
445 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA841389
rs766602047
445 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs139469516
CA841391
446 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841392
rs765462401
446 A>V No ClinGen
ExAC
gnomAD
CA340244886
rs1199400859
448 L>P No ClinGen
gnomAD
rs267598634
CA22032809
453 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs267598633
CA22032808
453 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1237395045
CA340244918
454 S>T No ClinGen
gnomAD
rs1557650086
CA340244924
455 R>G No ClinGen
Ensembl
rs746864745
CA841422
458 I>N No ClinGen
ExAC
gnomAD
CA841424
COSM3705912
rs554623281
459 G>R liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs776244724
CA841425
460 K>N No ClinGen
ExAC
gnomAD
rs1355438790
CA340245181
461 Q>R No ClinGen
gnomAD
TCGA novel 463 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA841427
rs145355751
464 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA841426
rs145355751
464 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 465 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763303000
CA841428
465 N>S No ClinGen
ExAC
gnomAD
CA841429
rs764489470
466 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs764489470
CA340245328
466 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA841430
rs751963169
467 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA340245339
rs751963169
467 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA841431
rs145063739
470 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753253715
CA841433
471 R>G No ClinGen
ExAC
CA841434
rs192410694
471 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA22034219
rs540636031
472 A>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA22034226
rs540636031
472 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1182558951
CA340245432
473 L>P No ClinGen
TOPMed
rs752306468
CA841436
474 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs752306468
CA340245447
474 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs777531624
CA841438
477 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs377247931
COSM910398
CA841439
477 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377247931
CA340245500
477 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 479 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340245619
rs1401096218
482 P>S No ClinGen
TOPMed
gnomAD
rs1297082427
CA340245636
483 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 483 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757113433
CA841442
484 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA340245657
rs1454022502
485 T>A No ClinGen
TOPMed
gnomAD
rs781241287
CA841443
486 R>G No ClinGen
ExAC
gnomAD
CA841444
rs745818783
486 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1242355263
CA340245734
489 I>V No ClinGen
gnomAD
rs1317225997
CA340245750
490 P>S No ClinGen
TOPMed
gnomAD
rs2758714
CA841448
VAR_044360
491 M>I No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs774570898
CA841449
492 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA340245819
rs762274692
493 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767886913
CA340245827
493 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1343199
rs767886913
CA841451
493 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773718162
CA841452
495 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1163152118
CA340245973
498 S>C No ClinGen
gnomAD
CA841453
rs761201440
498 S>P No ClinGen
ExAC
gnomAD
rs1420880520
CA340246018
500 N>S No ClinGen
gnomAD
rs1358145451
CA340246070
502 I>T No ClinGen
TOPMed
gnomAD
rs1569820249
CA340246094
503 H>P No ClinGen
Ensembl
CA841456
rs758042184
503 H>Y No ClinGen
ExAC
TOPMed
CA841457
COSM1343201
rs148057835
505 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841458
rs375990198
COSM1249602
505 R>H oesophagus haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs61736430
CA841460
COSM3747000
506 L>F liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs4926600
VAR_044361
CA841462
509 L>F allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15 [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA340246212
rs4926600
509 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA841465
rs376754437
511 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA841466
rs143878521
512 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772441252
CA841468
513 C>S No ClinGen
ExAC
TOPMed
gnomAD
COSM414878
rs1232464242
CA340246332
514 E>K urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
CA841469
rs773451936
515 D>H No ClinGen
ExAC
gnomAD
rs142987331
CA841470
515 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369656798
CA841471
516 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762499977
CA841473
517 D>E No ClinGen
ExAC
gnomAD
CA340246406
rs1557651275
517 D>N No ClinGen
Ensembl
rs774950099
CA841472
517 D>V No ClinGen
ExAC
gnomAD
TCGA novel 518 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340246459
rs1557651287
519 L>F No ClinGen
Ensembl

No associated diseases with Q5TCH4

1 regional properties for Q5TCH4

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

Functions

Description
EC Number 1.14.14.80 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

3 GO annotations of cellular component

Name Definition
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
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.

7 GO annotations of molecular function

Name Definition
16-hydroxypalmitate dehydrogenase activity Catalysis of the reaction: 16-hydroxypalmitate + NADP <=> H+ + 16-oxo-palmitate + NADPH.
alkane 1-monooxygenase activity Catalysis of the reaction: octane + reduced rubredoxin + O2 = 1-octanol + oxidized rubredoxin + H2O.
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.
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.
laurate hydroxylase activity Catalysis of the reaction: dodecanoate + NADPH + O2 + H+ <=> 11-hydroxylaurate + NADP + H2O.
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

6 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.
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.
linoleic acid metabolic process The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2.
lipid hydroxylation The covalent attachment of a hydroxyl group to one or more fatty acids in a lipid.

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
Q02928 CYP4A11 Cytochrome P450 4A11 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 RLGGVSGILQ VTSLLILLLL LIKAAQLYLH RQWLLKALQQ FPCPPSHWLF
70 80 90 100 110 120
GHIQEFQHDQ ELQRIQERVK TFPSACPYWI WGGKVRVQLY DPDYMKVILG RSDPKSHGSY
130 140 150 160 170 180
KFLAPRIGYG LLLLNGQTWF QHRRMLTPAF HNDILKPYVG LMADSVRVML DKWEELLGQD
190 200 210 220 230 240
SPLEVFQHVS LMTLDTIMKS AFSHQGSIQV DRNSQSYIQA ISDLNSLVFC CMRNAFHEND
250 260 270 280 290 300
TIYSLTSAGR WTHRACQLAH QHTDQVIQLR KAQLQKEGEL EKIKRKRHLD FLDILLLAKM
310 320 330 340 350 360
ENGSILSDKD LRAEVDTFMF EGHDTTASGI SWILYALATH PKHQERCREE IHGLLGDGAS
370 380 390 400 410 420
ITWNHLDQMP YTTMCIKEAL RLYPPVPGIG RELSTPVTFP DGRSLPKGIM VLLSIYGLHH
430 440 450 460 470 480
NPKVWPNLEV FDPSRFAPGS AQHSHAFLPF SGGSRNCIGK QFAMNQLKVA RALTLLRFEL
490 500 510
LPDPTRIPIP MARLVLKSKN GIHLRLRRLP NPCEDKDQL