P33260
PR
Gene name |
CYP2C18 |
Protein name |
Cytochrome P450 2C18 |
Names |
CYPIIC18, Cytochrome P450-6b/29c |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1562 |
EC number |
1.14.14.1: With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for P33260
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2CIK | X-ray | 175 A | C | 72-80 | PDB |
| 2H6P | X-ray | 190 A | C | 72-80 | PDB |
| AF-P33260-F1 | Predicted | AlphaFoldDB |
484 variants for P33260
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA377661427 rs754065546 |
4 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs754065546 CA5615775 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1348730980 CA377661432 |
5 | V>M | No |
ClinGen TOPMed |
|
|
rs757242298 CA5615776 |
7 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615777 rs779070771 |
8 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779070771 CA377661448 |
8 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377661463 rs1318860454 |
10 | C>S | No |
ClinGen TOPMed |
|
|
rs758325478 CA5615779 |
10 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1400777156 CA377661467 |
11 | L>V | No |
ClinGen gnomAD |
|
|
rs370987812 CA211648024 |
12 | S>A | No |
ClinGen ESP TOPMed |
|
|
CA5615780 rs529491605 |
14 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746783692 CA5615781 |
16 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA5615782 rs549136059 |
17 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1279914255 CA377661517 |
19 | L>F | No |
ClinGen gnomAD |
|
|
CA5615784 rs747860502 |
19 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615786 rs772751596 |
22 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA211648050 rs866291028 |
23 | S>N | No |
ClinGen Ensembl |
|
|
CA5615787 rs762437164 |
26 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377661565 rs762437164 |
26 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM369790 CA5615788 rs772619007 |
28 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760964416 CA211648089 |
30 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760964416 CA5615790 |
30 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377661589 rs760964416 |
30 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750507400 CA5615795 |
36 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1420562195 CA377661675 |
37 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1325088327 CA377661742 |
42 | I>T | No |
ClinGen gnomAD |
|
|
rs780078851 CA5615797 COSM1580761 |
44 | Q>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747934018 CA5615801 |
48 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA377661847 rs56113807 |
49 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283402809 CA377661863 |
50 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs777351687 CA5615803 |
50 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5615804 rs748777228 |
51 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA377661874 rs1432799997 |
51 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1199289175 CA377661901 |
53 | S>A | No |
ClinGen gnomAD |
|
|
rs778370337 CA377662708 CA5615825 |
58 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1164005268 CA377662787 |
62 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769142998 CA211650382 |
63 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769142998 CA5615827 |
63 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA211650387 rs146239394 |
65 | F>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1401646493 CA377662850 |
65 | F>L | No |
ClinGen gnomAD |
|
|
CA211650388 rs202113535 |
65 | F>S | No |
ClinGen 1000Genomes |
|
|
CA5615828 rs146239394 |
65 | F>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA5615829 rs748486797 |
67 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5615830 rs41291550 |
68 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372279673 | 70 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615831 rs773441991 |
71 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377662983 rs763247577 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763247577 CA5615832 |
73 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1052516310 CA211650464 |
74 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774569291 CA5615834 |
74 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs759747828 CA5615835 |
75 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767436073 CA5615836 |
76 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5615838 rs755901390 COSM540056 |
77 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1589790698 CA377663055 |
77 | L>W | No |
ClinGen Ensembl |
|
|
rs763819511 CA5615839 |
78 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5615840 rs368264095 |
80 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1259875167 CA377663104 |
80 | Y>D | No |
ClinGen gnomAD |
|
|
CA377663101 rs1259875167 |
80 | Y>H | No |
ClinGen gnomAD |
|
|
rs756868739 CA5615841 |
81 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5615843 rs749917925 |
83 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377663168 rs1483710952 |
84 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615845 rs372444081 |
89 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211650556 rs550117143 |
90 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 91 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554841562 CA377663287 |
93 | E>A | No |
ClinGen Ensembl |
|
|
rs748632945 CA5615846 |
93 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200398730 CA211650572 |
95 | S>P | No |
ClinGen 1000Genomes |
|
|
COSM1702790 rs1278639064 CA377663342 |
97 | R>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5615848 rs770145786 |
98 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749739080 CA377663366 |
99 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615850 rs749739080 |
99 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905420054 CA211650611 |
104 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 109 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615852 rs768250057 |
109 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615851 rs145731435 |
109 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211650645 rs1048521036 |
111 | G>R | No |
ClinGen Ensembl |
|
|
rs776558652 CA5615875 |
113 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288079065 CA377663668 |
116 | N>D | No |
ClinGen gnomAD |
|
|
CA5615877 rs371597682 |
116 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761530319 CA5615876 |
116 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410411940 CA377663702 |
118 | K>N | No |
ClinGen TOPMed |
|
|
rs201048148 CA211650854 |
118 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs750028305 CA5615878 |
119 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA377663708 rs1368952876 |
119 | R>S | No |
ClinGen gnomAD |
|
|
rs762490017 CA5615879 |
120 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1309997029 CA377663723 |
121 | K>R | No |
ClinGen gnomAD |
|
|
CA377663732 rs190647817 |
122 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5615881 rs751022156 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs117111102 CA5615880 |
124 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5615882 rs754531436 |
125 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377663745 rs754531436 |
125 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615883 rs142985033 |
125 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757650248 CA5615885 |
127 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779400410 CA5615886 |
128 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 128 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416973493 CA377663771 |
129 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5615887 rs746272540 |
129 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377663781 rs1368884949 |
130 | T>I | No |
ClinGen gnomAD |
|
|
rs543931018 CA5615889 |
131 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768785722 CA5615892 |
132 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615893 rs768785722 COSM921725 |
132 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780378156 COSM1739671 CA5615891 |
132 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA377663793 rs769770938 |
133 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761283409 CA5615894 |
133 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589790929 CA377663805 |
135 | G>W | No |
ClinGen Ensembl |
|
|
CA211650945 rs949465449 |
136 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA211650947 rs949465449 |
136 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 137 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5615896 rs772988311 |
138 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM41521 CA377663829 rs1356203191 |
139 | R>G | lung upper_aerodigestive_tract large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5615897 rs762865911 |
139 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563620905 CA377663838 |
140 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563620905 CA5615898 |
140 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5615899 rs774058306 |
141 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377663851 rs1478978224 |
142 | E>G | No |
ClinGen gnomAD |
|
|
CA5615901 rs767161951 |
142 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615902 rs752307021 |
143 | D>G | No |
ClinGen ExAC TOPMed |
|
|
CA5615903 rs545798981 |
144 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5615904 rs115091705 |
144 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1256404260 CA377663866 |
145 | V>I | No |
ClinGen gnomAD |
|
|
rs1481040559 COSM428176 CA377663874 |
146 | Q>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA211650979 rs925864881 |
146 | Q>L | No |
ClinGen TOPMed |
|
|
CA377663879 rs1162530952 |
147 | E>K | No |
ClinGen gnomAD |
|
|
rs750738073 CA5615905 |
148 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211650982 rs1049119432 |
148 | E>V | No |
ClinGen TOPMed |
|
|
rs1466095186 CA377663898 |
149 | A>V | No |
ClinGen gnomAD |
|
|
CA5615906 rs371910428 |
150 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377663903 rs1478268071 |
150 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780069378 CA5615907 |
152 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211650994 rs375267413 |
157 | R>T | No |
ClinGen ESP TOPMed |
|
|
rs1297881774 CA377663960 |
159 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs548575183 CA5615908 |
160 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA211655551 rs558620955 |
161 | A>V | No |
ClinGen gnomAD |
|
|
rs373749082 CA5615936 |
164 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211655577 rs957112623 |
165 | D>N | No |
ClinGen TOPMed |
|
|
CA211655582 rs938222247 |
167 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA211655590 rs778315631 |
169 | I>M | No |
ClinGen Ensembl |
|
|
rs1217696708 CA377666017 |
169 | I>T | No |
ClinGen gnomAD |
|
|
rs1316107364 CA377666040 |
171 | G>D | No |
ClinGen TOPMed |
|
|
rs745720615 CA5615939 |
174 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745720615 CA377666083 |
174 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211655608 rs575087980 |
175 | C>R | No |
ClinGen gnomAD |
|
|
rs1375728612 CA377666120 |
176 | N>D | No |
ClinGen TOPMed |
|
|
rs139238143 CA5615941 |
176 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA211655613 rs1050778255 |
178 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5615942 rs760192565 |
179 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401433510 CA377666210 |
180 | S>C | No |
ClinGen gnomAD |
|
|
CA377666212 rs1401433510 |
180 | S>F | No |
ClinGen gnomAD |
|
|
rs1376189093 CA5615943 |
184 | H>R | No |
ClinGen TOPMed |
|
|
CA5615945 rs376802839 |
185 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141271146 CA5615946 |
186 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763494410 CA5615947 COSM1202850 |
186 | R>Q | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766833706 CA5615948 |
187 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs41303835 CA5615949 |
188 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA211655642 rs866207595 |
188 | D>N | No |
ClinGen Ensembl |
|
|
rs759909538 CA5615950 |
189 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA211655659 rs1004256316 |
191 | D>G | No |
ClinGen Ensembl |
|
|
rs752948314 CA5615952 |
192 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5615953 COSM1580763 rs115269792 |
192 | Q>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777889404 CA5615954 |
193 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA377666515 rs1222267690 |
194 | F>S | No |
ClinGen gnomAD |
|
|
CA5615955 rs753909866 |
197 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1191831913 CA377666595 COSM1580764 |
198 | M>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1470647697 CA377666641 |
200 | K>Q | No |
ClinGen gnomAD |
|
|
rs1160489924 CA377666671 |
201 | F>L | No |
ClinGen gnomAD |
|
|
CA377666660 rs1589794096 |
201 | F>L | No |
ClinGen Ensembl |
|
|
CA5615956 rs137908489 |
202 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs267602628 CA5615957 |
205 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA377666730 rs1327228319 |
205 | L>P | No |
ClinGen gnomAD |
|
|
rs539511461 CA377666739 |
206 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs539511461 CA5615959 |
206 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5615960 rs779808698 |
206 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1443991707 CA377666777 |
209 | S>G | No |
ClinGen gnomAD |
|
|
CA377666785 rs149450201 |
209 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs573172566 CA5615962 |
210 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1349771805 CA377666790 |
210 | S>T | No |
ClinGen gnomAD |
|
|
rs1589794129 CA377666827 |
212 | W>C | No |
ClinGen Ensembl |
|
|
CA377666816 rs1471977013 |
212 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 213 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377668403 rs1474415462 |
215 | V>L | No |
ClinGen gnomAD |
|
|
rs775831653 CA5615989 |
216 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA377668409 rs1187547167 |
216 | C>S | No |
ClinGen gnomAD |
|
|
CA377668410 rs1374128136 |
216 | C>Y | No |
ClinGen gnomAD |
|
|
rs764322390 CA5615990 |
217 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395079832 CA377668419 |
217 | N>K | No |
ClinGen gnomAD |
|
|
rs1038558916 CA377668422 |
218 | N>D | No |
ClinGen gnomAD |
|
|
rs1314299002 CA377668425 |
218 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1038558916 CA211665734 |
218 | N>Y | No |
ClinGen gnomAD |
|
|
rs776720394 CA5615991 |
220 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1477910621 CA377668464 |
222 | L>V | No |
ClinGen TOPMed |
|
|
rs1413923742 CA377668475 |
223 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201869881 CA211665740 |
224 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201869881 CA5615993 |
224 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5615994 rs750579234 |
225 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1225098595 CA377668515 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
CA5615995 rs758377420 |
226 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256996621 CA377668535 |
227 | P>T | No |
ClinGen TOPMed |
|
|
rs2296681 CA5615996 |
232 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200254377 CA377668638 |
233 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5615998 rs754734909 |
233 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs942190166 CA211665760 |
234 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747780145 CA5616000 |
235 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5616001 rs542675546 |
237 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5616002 rs777237591 |
240 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175184065 CA377668747 |
241 | K>E | No |
ClinGen gnomAD |
|
|
rs748867249 CA5616003 |
241 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5616004 rs772558145 |
242 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs772558145 COSM921728 CA377668773 |
242 | S>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1038104725 CA211665805 |
243 | Y>S | No |
ClinGen TOPMed |
|
|
CA211665826 rs1006799337 |
246 | E>D | No |
ClinGen Ensembl |
|
|
CA211665820 rs866505808 |
246 | E>K | No |
ClinGen Ensembl |
|
|
CA377668847 rs747328371 |
247 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616006 rs747328371 |
247 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616007 rs368692166 |
248 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364637940 CA377668876 |
249 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559309972 CA5616008 |
250 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616009 rs761915839 |
250 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs138778808 CA5616010 |
251 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5616011 rs773418701 |
251 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5616013 rs766360503 |
254 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5616014 rs373847336 |
255 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5616016 rs754900853 |
255 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5616015 rs754900853 |
255 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA377668947 rs373847336 |
255 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752578093 CA5616017 |
256 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1469253727 CA377668959 |
256 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5616018 rs755720922 |
257 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA377668974 rs1396207009 |
257 | M>V | No |
ClinGen TOPMed |
|
|
rs777462213 CA5616019 |
258 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377668994 rs1159354343 |
258 | N>T | No |
ClinGen gnomAD |
|
|
CA211665883 rs1056526608 |
259 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs184571563 CA377669032 |
261 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756768474 CA5616021 |
261 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs184571563 COSM921729 CA5616020 |
261 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780495244 CA5616023 |
263 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1178792847 CA377669062 |
263 | F>L | No |
ClinGen TOPMed |
|
|
rs769251883 CA5616026 |
265 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA377669119 rs1307971914 |
266 | C>F | No |
ClinGen gnomAD |
|
|
CA5616027 rs764286783 |
266 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616028 rs748611368 |
267 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141829322 CA5616030 |
268 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1308810521 CA377669156 |
269 | I>V | No |
ClinGen TOPMed |
|
|
rs1267821504 CA377669174 |
270 | K>E | No |
ClinGen gnomAD |
|
|
rs371704710 CA5616032 |
271 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs552040999 CA5616031 |
271 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5616033 rs774541514 |
272 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA211674664 rs996781547 |
274 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA377670616 rs1381057136 |
274 | E>K | No |
ClinGen TOPMed |
|
|
CA5616049 rs146257549 |
275 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs117601208 CA5616048 |
275 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377670681 rs771321668 |
277 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616051 rs771321668 |
277 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616052 rs771321668 |
277 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616054 rs771850014 |
278 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 278 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5616055 rs775506790 |
279 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs763895496 CA5616057 |
280 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001327025 CA211674739 |
281 | E>D | No |
ClinGen Ensembl |
|
|
CA5616058 rs776454960 |
283 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA211674748 rs1006516409 |
284 | V>L | No |
ClinGen TOPMed |
|
|
rs1334456001 CA377670816 |
285 | E>G | No |
ClinGen gnomAD |
|
|
rs761421711 CA5616059 |
285 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616060 rs765005830 |
286 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA377670831 rs1280849210 |
286 | S>T | No |
ClinGen TOPMed |
|
|
rs749885860 CA5616061 |
289 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376518003 CA377670882 |
289 | A>V | No |
ClinGen gnomAD |
|
|
rs757939253 CA5616062 |
290 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377670894 rs1339816217 |
291 | V>G | No |
ClinGen TOPMed |
|
|
rs1313275330 CA377670906 |
293 | D>A | No |
ClinGen TOPMed |
|
|
rs1554844163 CA5616063 |
294 | M>I | No |
ClinGen Ensembl |
|
|
CA377670914 rs1282732470 |
294 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA377670916 rs1282732470 |
294 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5616066 rs753270728 |
298 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616067 rs756734771 |
299 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs60181876 CA5616068 RCV000886211 |
299 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377670955 rs749739018 |
300 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA211674824 rs202032764 |
301 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1280580220 CA377670958 |
301 | T>K | No |
ClinGen gnomAD |
|
|
CA5616070 rs757543516 |
302 | T>M | Variant assessed as Somatic; 0.0002773 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745873796 CA5616072 |
303 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486164573 CA377670971 |
303 | S>R | No |
ClinGen gnomAD |
|
|
CA5616073 rs772228761 |
304 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201878313 CA211674851 |
304 | T>I | No |
ClinGen 1000Genomes |
|
|
CA5616074 rs772228761 |
304 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616076 rs768617676 |
306 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5616078 rs761653149 |
306 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA5616077 rs768617676 |
306 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5616079 rs764737049 |
307 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1436750767 CA377671004 |
310 | L>F | No |
ClinGen gnomAD |
|
|
rs1436750767 CA377671005 |
310 | L>I | No |
ClinGen gnomAD |
|
|
rs762328869 CA5616081 |
314 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1291115408 CA377671034 |
315 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211674870 rs914537527 |
318 | E>K | No |
ClinGen TOPMed |
|
|
CA5616084 rs576309406 |
318 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs764757103 CA5616085 |
319 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191275957 CA5616104 |
321 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763895663 CA5616105 |
322 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765609209 CA5616106 |
323 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA377671177 rs765609209 |
323 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5616107 rs750789512 |
326 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1297524 rs758639306 CA5616108 |
327 | I>T | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 328 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377671290 rs1202678172 |
329 | C>Y | No |
ClinGen TOPMed |
|
|
CA5616109 rs59636573 RCV000968191 |
330 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377671553 rs1295050785 |
331 | V>G | No |
ClinGen gnomAD |
|
|
CA377671308 rs1233870451 |
331 | V>I | No |
ClinGen gnomAD |
|
|
CA5616111 rs751578555 |
334 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs41286880 CA5616113 |
335 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5616112 COSM109652 rs140111676 |
335 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377671583 rs1207535412 |
336 | S>I | No |
ClinGen gnomAD |
|
|
rs1250114681 CA377671592 |
337 | P>L | No |
ClinGen gnomAD |
|
|
rs1228628601 CA377671589 COSM1702793 |
337 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs41286882 CA5616114 |
338 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1189340937 CA377671597 |
338 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA377671606 rs1420672385 |
339 | M>I | No |
ClinGen gnomAD |
|
|
CA211676785 rs868786753 |
340 | Q>E | No |
ClinGen Ensembl |
|
|
rs1162163534 CA377671629 CA377671630 |
342 | R>S | No |
ClinGen gnomAD |
|
|
CA377671632 rs1465143548 |
343 | S>G | No |
ClinGen gnomAD |
|
|
rs1359206526 CA377671652 |
345 | M>I | No |
ClinGen TOPMed |
|
|
rs200587027 CA211676788 |
345 | M>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs749096056 CA5616118 |
346 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5616116 rs769659594 |
346 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769659594 CA5616117 |
346 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs770560941 CA5616120 |
348 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA377671672 rs1243906358 |
349 | D>H | No |
ClinGen gnomAD |
|
|
rs145173626 CA5616122 |
350 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5616123 rs771734535 |
350 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA377671683 rs1230973958 |
351 | V>M | No |
ClinGen gnomAD |
|
|
rs932953000 CA211676817 |
352 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377671694 rs1482819756 |
353 | H>D | No |
ClinGen gnomAD |
|
|
rs567306349 CA5616124 |
353 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5616127 rs750784520 |
354 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142667327 CA5616126 |
354 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA377671716 rs1450792008 |
356 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs922186863 CA211676837 |
357 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA211676856 rs889028721 |
358 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs766519476 CA5616129 |
360 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616128 rs529793231 |
360 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs954984377 CA211676857 |
360 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA377671748 rs1318883946 |
361 | L>F | No |
ClinGen gnomAD |
|
|
CA377671764 rs1330486715 |
363 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377671761 rs1295414227 |
363 | P>S | No |
ClinGen gnomAD |
|
|
rs751809542 CA5616130 |
364 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs147932613 CA5616132 |
365 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211676882 rs144917969 |
365 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377671784 rs569398127 |
367 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569398127 CA5616134 |
367 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1285448167 CA377671783 |
367 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 368 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865887743 CA211676893 |
368 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 369 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373928015 CA211676895 |
370 | V>L | No |
ClinGen ESP |
|
|
rs893658493 CA377671808 |
371 | T>I | No |
ClinGen TOPMed |
|
|
CA211676897 rs893658493 |
371 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777587241 CA5616136 |
372 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749048686 CA5616137 |
376 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757153190 CA5616138 |
378 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs531098917 CA211676922 |
379 | Y>N | No |
ClinGen Ensembl |
|
|
CA5616140 rs745497129 |
379 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA377671868 rs1564648078 |
380 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5616141 rs771887837 |
381 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5616142 rs775131561 |
382 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5616143 rs370873051 |
383 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370873051 CA377671886 |
383 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370873051 CA5616144 |
383 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377671902 rs1181445385 |
384 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1126545 VAR_001254 CA5616164 |
385 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs771494275 CA5616166 |
386 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616167 rs774686106 |
387 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1308855710 CA377671921 |
387 | I>T | No |
ClinGen gnomAD |
|
|
CA377671918 rs774686106 |
387 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211681232 rs267602629 |
390 | S>F | No |
ClinGen Ensembl |
|
|
rs371155124 CA5616169 |
390 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371155124 CA5616170 |
390 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764062484 CA5616173 |
391 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913618478 CA211681243 |
392 | T>A | No |
ClinGen TOPMed |
|
|
rs765319303 CA5616175 |
394 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616176 rs750182608 |
396 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481838683 CA377671976 |
397 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA377671975 rs1481838683 |
397 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA377671980 rs1227066031 |
398 | D>N | No |
ClinGen Ensembl |
|
|
rs1257920701 CA377671993 |
399 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1484221641 COSM921731 CA377671998 |
400 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 403 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5616180 rs201690300 |
404 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201619531 CA5616182 |
406 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780537096 CA5616181 |
406 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5616183 rs150095869 |
407 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5616186 rs367800235 |
408 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5616184 rs779399158 |
408 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1177044213 CA377672054 |
408 | D>H | No |
ClinGen TOPMed |
|
|
CA377672063 rs775975146 |
409 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5616187 rs775975146 |
409 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1450864401 CA377672061 |
409 | P>S | No |
ClinGen gnomAD |
|
|
rs1377889349 CA377672067 |
410 | G>A | No |
ClinGen gnomAD |
|
|
rs1589808993 CA377672074 |
411 | H>R | No |
ClinGen Ensembl |
|
|
CA377672088 rs1265233040 |
413 | L>Q | No |
ClinGen gnomAD |
|
|
CA377672087 rs1299094053 |
413 | L>V | No |
ClinGen gnomAD |
|
|
rs1481349744 CA377672100 |
415 | K>E | No |
ClinGen TOPMed |
|
|
CA5616191 rs762001994 |
417 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA377672122 rs1313732133 |
418 | N>Y | No |
ClinGen gnomAD |
|
|
rs1189330145 CA377672174 |
424 | Y>* | No |
ClinGen gnomAD |
|
|
rs374042569 CA5616194 |
424 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766067518 CA5616195 |
426 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5616196 rs751412527 |
427 | P>S | No |
ClinGen ExAC |
|
|
rs1188132314 CA377672203 |
428 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA211681314 rs200735820 |
429 | S>P | No |
ClinGen 1000Genomes |
|
|
rs549212727 CA211681322 |
430 | A>E | No |
ClinGen Ensembl |
|
|
rs1482298087 CA377672209 |
430 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs753408877 CA377672240 |
433 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538067636 CA5616221 |
433 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616220 rs753408877 |
433 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780629466 CA211682274 CA5616222 |
434 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211682275 rs947732703 |
435 | C>Y | No |
ClinGen Ensembl |
|
|
CA5616223 rs747273748 |
436 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA377672276 rs1421103131 |
438 | E>V | No |
ClinGen TOPMed |
|
|
rs1367741529 CA377672280 |
439 | G>S | No |
ClinGen gnomAD |
|
|
rs1363177696 CA377672292 |
441 | A>S | No |
ClinGen TOPMed |
|
|
CA5616225 rs79500998 |
442 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5616227 rs111489446 |
442 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000886212 rs111489446 CA5616226 |
442 | R>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM225655 CA377672304 COSM686020 rs1246555682 |
443 | M>I | lung NS skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1564651155 CA377672299 |
443 | M>L | No |
ClinGen Ensembl |
|
|
rs543099807 CA211682285 |
443 | M>R | No |
ClinGen TOPMed |
|
|
rs543099807 CA377672303 |
443 | M>T | No |
ClinGen TOPMed |
|
|
rs773532157 CA377672316 |
445 | L>V | No |
ClinGen gnomAD |
|
|
rs773422485 CA5616229 |
450 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA211682310 rs202042825 |
451 | T>A | No |
ClinGen 1000Genomes |
|
|
CA5616230 rs201218429 |
452 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1415303065 CA377672373 |
454 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403285728 CA377672376 |
454 | Q>R | No |
ClinGen gnomAD |
|
|
CA5616231 rs770705767 |
456 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1263569906 CA377672396 |
457 | N>Y | No |
ClinGen TOPMed |
|
|
rs771902308 CA211682315 |
460 | S>P | No |
ClinGen TOPMed |
|
|
rs982918063 CA211682319 |
461 | Q>* | No |
ClinGen TOPMed |
|
|
rs1289698812 CA377672429 |
462 | V>F | No |
ClinGen TOPMed |
|
|
rs371529582 CA5616232 |
463 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564651197 CA377672437 |
463 | D>V | No |
ClinGen Ensembl |
|
|
rs138045916 CA5616233 |
465 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377672448 rs1349831129 |
465 | K>T | No |
ClinGen gnomAD |
|
|
rs557626198 CA5616234 |
466 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA211682330 rs886501074 |
467 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 467 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775301825 CA5616235 |
467 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5616237 rs763789421 |
468 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5616236 rs760312441 |
468 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5616239 rs756799704 |
470 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA377672491 rs1364277695 |
472 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940792312 CA377672507 |
474 | N>K | No |
ClinGen gnomAD |
|
|
rs755488198 CA5616242 |
474 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5616243 rs781667179 |
475 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs577595661 CA5616245 |
478 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5616247 rs41286884 |
478 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs577595661 CA5616246 |
478 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5616249 rs774342624 |
480 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772062076 CA5616251 |
481 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1457939716 CA377672543 |
481 | P>S | No |
ClinGen TOPMed |
|
|
rs760296935 CA211682445 |
484 | Q>* | No |
ClinGen Ensembl |
|
|
rs768235030 CA5616254 |
485 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs573172062 CA5616255 |
486 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 487 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761182245 CA5616256 |
489 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5616258 rs764785028 |
490 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764785028 CA5616257 |
490 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 490 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1182482922 | 491 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377672605 rs1441124445 |
491 | V>R | No |
ClinGen gnomAD |
No associated diseases with P33260
1 regional properties for P33260
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 430 - 439 | 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 |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| arachidonic acid epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to a cis-epoxyeicosatrienoic acid. |
| 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. |
| linoleic acid epoxygenase activity | Catalysis of an NADPH- and oxygen-dependent reaction that converts linoleic acid to a cis-epoxyoctadecenoic acid. |
| 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, 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. |
| oxygen binding | Binding to oxygen (O2). |
| retinoic acid 4-hydroxylase activity | Catalysis of the conversion of retinoic acid to 4-hydroxy-retinoic acid. |
| steroid hydroxylase activity | Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| epoxygenase P450 pathway | The chemical reactions and pathways by which arachidonic acid is converted to other compounds including epoxyeicosatrienoic acids and dihydroxyeicosatrienoic acids. |
| linoleic acid metabolic process | The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2. |
| organic acid metabolic process | The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. |
| retinoic acid metabolic process | The chemical reactions and pathways involving retinoic acid, one of the three components that makes up vitamin A. |
| retinol metabolic process | The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A. |
| 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 |
| P05177 | CYP1A2 | Cytochrome P450 1A2 | Homo sapiens (Human) | PR |
| P05093 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Homo sapiens (Human) | PR |
| P10632 | CYP2C8 | Cytochrome P450 2C8 | Homo sapiens (Human) | PR |
| P05181 | CYP2E1 | Cytochrome P450 2E1 | Homo sapiens (Human) | PR |
| P51589 | CYP2J2 | Cytochrome P450 2J2 | Homo sapiens (Human) | PR |
| Q7Z449 | CYP2U1 | Cytochrome P450 2U1 | Homo sapiens (Human) | 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 |
| Q9D816 | Cyp2c55 | Cytochrome P450 2C55 | Mus musculus (Mouse) | PR |
| P79383 | CYP2E1 | Cytochrome P450 2E1 | Sus scrofa (Pig) | 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 |
| 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 |
| P33273 | Cyp2c55 | Cytochrome P450 2C55 | Rattus norvegicus (Rat) | PR |
| P05179 | Cyp2c7 | Cytochrome P450 2C7 | 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 |
| MDPAVALVLC | LSCLFLLSLW | RQSSGRGRLP | SGPTPLPIIG | NILQLDVKDM | SKSLTNFSKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YGPVFTVYFG | LKPIVVLHGY | EAVKEALIDH | GEEFSGRGSF | PVAEKVNKGL | GILFSNGKRW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEIRRFCLMT | LRNFGMGKRS | IEDRVQEEAR | CLVEELRKTN | ASPCDPTFIL | GCAPCNVICS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIFHDRFDYK | DQRFLNLMEK | FNENLRILSS | PWIQVCNNFP | ALIDYLPGSH | NKIAENFAYI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KSYVLERIKE | HQESLDMNSA | RDFIDCFLIK | MEQEKHNQQS | EFTVESLIAT | VTDMFGAGTE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TTSTTLRYGL | LLLLKYPEVT | AKVQEEIECV | VGRNRSPCMQ | DRSHMPYTDA | VVHEIQRYID |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLPTNLPHAV | TCDVKFKNYL | IPKGTTIITS | LTSVLHNDKE | FPNPEMFDPG | HFLDKSGNFK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KSDYFMPFSA | GKRMCMGEGL | ARMELFLFLT | TILQNFNLKS | QVDPKDIDIT | PIANAFGRVP |
| PLYQLCFIPV |