P22680
Gene name |
CYP7A1 |
Protein name |
Cytochrome P450 7A1 |
Names |
24-hydroxycholesterol 7-alpha-hydroxylase, CYPVII, Cholesterol 7-alpha-hydroxylase, Cholesterol 7-alpha-monooxygenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1581 |
EC number |
1.14.14.23: 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
4 structures for P22680
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3DAX | X-ray | 215 A | A/B | 25-503 | PDB |
| 3SN5 | X-ray | 275 A | A/B | 25-503 | PDB |
| 3V8D | X-ray | 190 A | A/B | 25-503 | PDB |
| AF-P22680-F1 | Predicted | AlphaFoldDB |
437 variants for P22680
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002535386 RCV000734630 CA177300274 rs922546527 |
108 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4756655 RCV002535146 RCV000730188 rs539485428 |
364 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4756914 rs763096344 |
4 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763096344 CA371298657 |
4 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371298616 rs1459584618 |
5 | S>C | No |
ClinGen TOPMed |
|
|
RCV000733746 CA4756912 rs528066345 |
9 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs771917069 CA4756909 |
10 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs745519772 CA4756908 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4756907 rs778544430 |
13 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs147162838 CA4756906 RCV000593135 |
13 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1014526226 CA177300750 |
15 | C>R | No |
ClinGen TOPMed |
|
|
CA371298425 rs1480684850 |
16 | C>S | No |
ClinGen TOPMed |
|
|
rs748850568 CA4756905 |
16 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371298389 rs1350022744 |
17 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1350022744 CA371298391 |
17 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs778099251 CA4756904 |
18 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA371298365 rs1180280041 |
19 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA4756902 rs200846540 |
27 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752006313 CA4756881 |
28 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756880 rs780606427 |
29 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371297086 rs780606427 |
29 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754562223 CA4756877 |
30 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756876 rs761807364 |
32 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367645025 CA371297052 |
33 | P>S | No |
ClinGen gnomAD |
|
|
rs1434830576 CA371297037 |
34 | L>P | No |
ClinGen gnomAD |
|
|
rs1295805340 CA371297040 |
34 | L>V | No |
ClinGen gnomAD |
|
|
RCV000338265 rs138113674 CA4756875 |
36 | N>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4756874 rs767467704 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1356970363 CA371296955 |
41 | Y>H | No |
ClinGen gnomAD |
|
|
rs1429939198 CA371296942 |
42 | L>V | No |
ClinGen gnomAD |
|
|
rs1554558878 RCV000598476 COSM454710 CA371296906 |
45 | A>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA371296886 rs1216827686 |
47 | Q>* | No |
ClinGen TOPMed |
|
|
CA371296873 rs1345898355 |
48 | F>V | No |
ClinGen TOPMed |
|
|
rs180916341 CA4756869 |
49 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4756870 COSM1100722 rs762648850 |
49 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371296853 rs180916341 |
49 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371296807 rs1256765959 |
52 | P>R | No |
ClinGen gnomAD |
|
|
rs189424028 CA4756868 RCV000727970 |
53 | L>F | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA4756866 rs148278254 |
54 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4756867 rs747673005 |
54 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA177300481 rs969443490 |
57 | R>G | No |
ClinGen TOPMed |
|
|
rs769256926 CA4756865 |
58 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4756864 rs747570322 |
60 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4756863 rs780453940 |
63 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA177300475 rs113258453 |
63 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476565097 CA371296544 |
63 | H>R | No |
ClinGen TOPMed |
|
|
rs1563484926 RCV000731655 CA371296506 |
64 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750595419 CA371296495 |
65 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs750595419 CA4756861 |
65 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1467207833 CA371296445 |
67 | F>S | No |
ClinGen TOPMed |
|
|
rs143198855 CA177300471 |
68 | T>I | No |
ClinGen ESP TOPMed |
|
|
RCV000593605 rs1554558853 CA371296390 |
69 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA371296280 rs753952585 |
73 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753952585 CA4756858 |
73 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377254635 CA4756857 |
75 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA177300467 rs377254635 |
75 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371296216 rs1428867550 |
76 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751553125 CA4756855 |
77 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA177300465 rs751553125 |
77 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756854 rs766189113 |
78 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs762661210 CA4756853 |
79 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371296024 rs1249881963 |
84 | S>P | No |
ClinGen gnomAD |
|
|
rs545869846 CA4756850 |
85 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545869846 CA371295992 |
85 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs62621283 CA4756849 VAR_059152 RCV000963911 |
86 | H>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA177300459 rs62621283 |
86 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267555538 CA371295953 |
87 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA177300456 rs1026092643 |
90 | C>* | No |
ClinGen Ensembl |
|
|
rs267601959 CA177300453 |
92 | G>E | No |
ClinGen Ensembl |
|
|
CA4756846 rs775869319 |
92 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772428979 CA4756845 |
96 | D>A | No |
ClinGen ExAC TOPMed |
|
|
rs772428979 CA177300450 |
96 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs753399056 CA371295645 |
96 | D>H | No |
ClinGen gnomAD |
|
|
rs753399056 CA177300452 |
96 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4756842 rs757436505 |
99 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4756843 rs757436505 |
99 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200836103 CA4756839 |
100 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4756840 rs777813512 |
100 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| VAR_001259 | 100 | F>S | No | UniProt | |
|
CA177300444 rs899803163 |
104 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766241318 CA4756837 |
105 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA371295291 rs1181579739 |
105 | S>C | No |
ClinGen gnomAD |
|
|
rs750214616 CA4756836 RCV000731926 |
106 | A>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs750214616 CA4756835 |
106 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756832 rs535484729 |
107 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761546326 CA4756833 |
107 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA371295031 rs922546527 |
108 | A>S | No |
ClinGen gnomAD |
|
|
CA177300272 rs976616207 |
108 | A>V | No |
ClinGen Ensembl |
|
|
rs1369817379 CA371294972 |
111 | H>Q | No |
ClinGen gnomAD |
|
|
CA177300270 rs577011584 |
112 | R>G | No |
ClinGen 1000Genomes |
|
|
CA4756815 rs757122872 |
112 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs753487730 CA4756814 |
113 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753487730 CA371294953 |
113 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs763865825 CA4756813 |
114 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4756812 rs760194463 |
116 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000732628 rs1563484457 CA371294918 |
116 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4756810 rs372015675 |
117 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171018064 CA371294817 |
124 | N>K | No |
ClinGen gnomAD |
|
|
CA4756809 rs759944158 |
126 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1018490874 CA177300263 |
127 | D>G | No |
ClinGen Ensembl |
|
|
rs1391016723 COSM298632 CA371294791 |
127 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 129 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4756807 rs771215892 |
130 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs771215892 CA4756808 |
130 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371294709 rs1198262246 |
134 | Q>* | No |
ClinGen gnomAD |
|
|
CA371294712 rs1198262246 |
134 | Q>K | No |
ClinGen gnomAD |
|
|
CA371294704 rs1346619804 |
134 | Q>L | No |
ClinGen gnomAD |
|
|
CA4756802 rs781119853 |
135 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4756801 rs768849156 |
138 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 139 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4756800 rs779007978 |
142 | T>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1202906 CA4756799 rs779007978 |
142 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
RCV000315439 CA10605913 rs886043760 |
143 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA371294597 rs1191355886 |
144 | S>N | No |
ClinGen TOPMed |
|
|
CA371294582 rs1371380962 |
145 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1414257275 CA371294588 |
145 | M>V | No |
ClinGen gnomAD |
|
|
CA4756798 rs757073508 |
146 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs753721942 CA4756797 |
149 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1419311083 CA371294524 |
150 | Q>E | No |
ClinGen gnomAD |
|
|
rs201114135 CA371294510 COSM1457633 |
151 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA177300249 rs201114135 |
151 | R>G | No |
ClinGen gnomAD |
|
|
rs777753834 CA4756796 |
151 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA371294506 rs777753834 |
151 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1184707982 CA371294497 |
152 | I>T | No |
ClinGen gnomAD |
|
|
CA371294488 rs1160411231 |
153 | M>T | No |
ClinGen TOPMed |
|
|
rs1361955643 COSM1202905 CA371294480 |
154 | R>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs939210405 CA177300247 COSM1100719 |
155 | P>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4756793 rs752449158 |
157 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA177300244 rs368522187 |
158 | S>C | No |
ClinGen ESP |
|
|
rs1563484353 CA371294446 |
158 | S>T | No |
ClinGen Ensembl |
|
|
rs759086567 CA4756791 |
160 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1246691908 CA371294406 |
161 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs886353028 CA371294362 |
163 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs886353028 CA177300240 |
163 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371294357 rs1351261361 |
164 | A>D | No |
ClinGen gnomAD |
|
|
rs766893445 CA371294359 |
164 | A>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000390157 rs766893445 CA4756789 |
164 | A>T | Variant assessed as Somatic; 5.096e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs906511867 CA177300237 |
165 | A>T | No |
ClinGen Ensembl |
|
|
CA371294343 RCV000734574 rs1354168442 |
166 | W>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA371294338 rs1354168442 COSM751110 |
166 | W>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1408171822 CA371294349 |
166 | W>R | No |
ClinGen gnomAD |
|
|
rs763263465 CA4756788 |
169 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1407459669 CA371294291 |
170 | G>V | No |
ClinGen gnomAD |
|
|
rs773532618 CA4756787 |
171 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA371294257 TCGA novel rs1464005837 |
172 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA371294263 rs1585643966 |
172 | Y>C | No |
ClinGen Ensembl |
|
|
CA177300235 rs1046698163 |
173 | S>A | No |
ClinGen TOPMed |
|
|
CA4756785 rs761938421 |
177 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs776916391 CA4756784 |
177 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4756783 rs768561553 |
178 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA371294173 rs1265587357 |
179 | M>I | No |
ClinGen TOPMed |
|
|
rs747138282 CA4756782 |
182 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1222007109 CA371294126 |
183 | G>R | No |
ClinGen gnomAD |
|
|
CA4756781 rs778958664 |
185 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1287639962 CA371294077 |
186 | T>I | No |
ClinGen gnomAD |
|
|
rs770963981 CA4756780 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756779 rs749290143 |
190 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756778 rs776702193 |
191 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756777 rs756001088 |
192 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756776 rs72647413 RCV000729753 |
193 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374585203 CA4756775 |
194 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371293970 rs1563484266 |
194 | R>S | No |
ClinGen Ensembl |
|
|
rs201046553 CA4756773 |
195 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM2719734 rs771901033 CA4756774 RCV000729085 |
195 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371293953 rs1458172567 |
196 | D>G | No |
ClinGen gnomAD |
|
|
rs765911554 CA4756772 |
198 | Q>* | No |
ClinGen ExAC |
|
|
rs1391471723 CA371293913 |
199 | K>R | No |
ClinGen gnomAD |
|
|
CA177300215 rs930310389 |
201 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs765455964 CA4756769 |
201 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4756770 rs750996469 |
201 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371293851 rs1478880503 |
204 | N>H | No |
ClinGen gnomAD |
|
|
CA371293841 rs1250846388 |
204 | N>K | No |
ClinGen gnomAD |
|
|
CA371293800 rs558718775 |
207 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568918027 CA4756767 |
207 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371293734 rs1316452469 |
211 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4756765 rs761022978 COSM3766786 |
212 | F>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs370087640 CA371293725 |
212 | F>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs773285427 CA4756761 |
213 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749230759 CA4756763 |
213 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749230759 COSM1100716 CA4756762 |
213 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA177300207 rs925723960 |
214 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA371293707 rs1314040550 |
215 | V>A | No |
ClinGen TOPMed |
|
|
CA177300205 rs747942969 |
218 | A>D | No |
ClinGen Ensembl |
|
|
rs1389461227 CA371293670 |
221 | A>V | No |
ClinGen gnomAD |
|
|
rs1319185520 CA371293664 |
222 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 224 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450992936 CA371293653 |
224 | P>L | No |
ClinGen gnomAD |
|
|
CA177300199 rs945734831 |
224 | P>S | No |
ClinGen Ensembl |
|
|
rs922242272 CA177300197 |
225 | I>F | No |
ClinGen Ensembl |
|
|
rs911358597 CA177300195 |
226 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 228 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371293628 rs1415758299 |
228 | F>V | No |
ClinGen gnomAD |
|
|
rs747994158 CA4756758 |
231 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1457630 CA4756757 rs780668040 |
231 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4756755 rs746711199 |
232 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4756754 VAR_018376 rs8192874 COSM1457629 |
233 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1212338772 CA371293586 |
234 | A>V | No |
ClinGen gnomAD |
|
|
CA4756753 rs141299456 RCV000731674 |
235 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778528720 CA177300188 |
235 | R>W | No |
ClinGen gnomAD |
|
|
rs192455108 CA4756752 |
239 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371293554 rs1563484152 |
240 | E>* | No |
ClinGen Ensembl |
|
|
rs146594981 CA177300184 |
241 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA177300182 rs373964068 |
243 | R>K | No |
ClinGen ESP TOPMed |
|
|
rs370924818 CA4756748 |
244 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760969537 CA4756747 |
245 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449615116 CA371293521 |
245 | E>K | No |
ClinGen gnomAD |
|
|
rs376522590 CA4756746 |
248 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767634039 CA371293487 |
249 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4756744 rs150039957 |
250 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4756743 rs530012264 |
253 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371293441 rs1414482574 |
254 | S>A | No |
ClinGen gnomAD |
|
|
rs1183620680 CA371293432 RCV000729483 |
255 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 256 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200100159 CA177300170 |
257 | I>S | No |
ClinGen 1000Genomes |
|
|
COSM310454 rs1484757800 CA371293385 |
258 | S>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1484757800 CA371293387 |
258 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM422096 CA371293382 rs1450713836 |
258 | S>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4756738 rs139396617 |
260 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3699122 rs139396617 CA4756737 RCV000324317 |
260 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1026171025 CA177300166 |
260 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4756736 rs771524490 |
261 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA371293341 rs1227195073 |
262 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs151320685 CA177300162 |
264 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1563484081 CA371293299 |
265 | D>Y | No |
ClinGen Ensembl |
|
|
CA4756732 rs565488904 |
269 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1024942782 CA177300156 |
272 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV000727980 rs778199686 CA4756730 COSM3834864 |
273 | L>P | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA371293146 rs1350372922 |
276 | A>D | No |
ClinGen gnomAD |
|
|
rs756548694 CA4756729 |
276 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1457628 CA371293088 rs1210055982 |
281 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4756727 rs767871705 |
283 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528732489 CA4756726 |
284 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528732489 CA4756725 |
284 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371293046 rs1182997313 |
285 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766417104 COSM606104 CA4756724 |
286 | S>L | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1428300224 CA371293004 |
291 | I>T | No |
ClinGen TOPMed |
|
|
CA4756722 rs776499055 |
291 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371292992 rs768382295 |
293 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756721 rs768382295 |
293 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760487952 CA4756720 |
295 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371292970 rs535428616 CA4756719 |
296 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371292976 rs1212431115 |
296 | W>R | No |
ClinGen gnomAD |
|
|
rs771684358 CA4756718 |
297 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA371292956 rs1228501501 |
298 | L>F | No |
ClinGen gnomAD |
|
|
CA371292947 rs1337108179 |
300 | Q>K | No |
ClinGen gnomAD |
|
|
CA4756717 rs745559202 |
301 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs142476981 CA4756716 |
303 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000122470 CA232149 rs386352295 |
303 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4756698 rs759226176 |
305 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773883139 CA4756697 |
306 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371292513 rs1382956556 |
306 | E>D | No |
ClinGen gnomAD |
|
|
CA371292511 rs1158082014 |
307 | A>S | No |
ClinGen gnomAD |
|
|
CA177299683 rs1018695052 |
307 | A>V | No |
ClinGen Ensembl |
|
|
rs997514726 CA177299682 |
308 | M>T | No |
ClinGen TOPMed |
|
|
CA371292490 rs1226796958 |
310 | A>S | No |
ClinGen TOPMed |
|
|
RCV000597848 rs140288234 CA4756696 |
313 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA371292463 rs1379619448 |
314 | E>* | No |
ClinGen gnomAD |
|
|
CA4756695 rs147153175 |
315 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371292441 rs1249151601 |
317 | R>K | No |
ClinGen gnomAD |
|
|
rs1249151601 CA371292440 |
317 | R>T | No |
ClinGen gnomAD |
|
|
rs1445792240 CA371292428 |
319 | L>S | No |
ClinGen gnomAD |
|
|
rs1476719974 CA371292411 |
321 | N>T | No |
ClinGen gnomAD |
|
|
CA177299679 rs779835043 |
322 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA177299677 rs779835043 |
322 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371292395 rs1245630081 |
324 | Q>* | No |
ClinGen gnomAD |
|
|
CA4756693 rs773812952 |
324 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA371292375 rs1282082517 |
327 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1202904 CA371292376 rs1282082517 |
327 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs781679073 CA4756690 |
328 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA177299673 rs143476559 |
330 | G>D | No |
ClinGen ESP TOPMed |
|
|
rs1199690733 CA371292353 RCV000592220 |
330 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA4756688 rs201041588 |
332 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755365230 CA4756689 |
332 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1490754779 CA371292331 |
333 | I>M | No |
ClinGen gnomAD |
|
|
CA4756687 rs374601769 |
335 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371292300 rs1311330677 |
338 | A>T | No |
ClinGen gnomAD |
|
|
CA4756685 rs758465037 |
342 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765352511 CA4756683 |
344 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs756035111 CA4756682 COSM1489354 |
346 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4756681 VAR_018377 rs8192875 |
347 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1272194471 CA371292093 |
349 | I>K | No |
ClinGen gnomAD |
|
|
rs746150781 CA4756662 |
350 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4756661 rs778961537 COSM3699121 |
353 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778961537 CA371292063 |
353 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351320462 CA371292048 |
356 | L>F | No |
ClinGen gnomAD |
|
|
CA177297688 rs908982662 |
357 | S>P | No |
ClinGen Ensembl |
|
|
rs767461666 CA4756658 |
358 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371292034 rs1440463845 |
358 | S>R | No |
ClinGen gnomAD |
|
|
CA371292030 rs1335606150 |
359 | A>S | No |
ClinGen gnomAD |
|
|
rs1414467556 CA371292024 |
360 | S>P | No |
ClinGen gnomAD |
|
|
CA371292018 rs1324634115 |
361 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA371292019 rs1324634115 |
361 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149291486 CA4756656 |
364 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1168837944 CA371291985 |
366 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1399961344 CA371291983 |
367 | K>E | No |
ClinGen TOPMed |
|
|
rs138607943 CA4756654 |
367 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4756653 rs369328699 |
369 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 369 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4756652 rs761420413 CA4756651 |
373 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232031956 CA371291932 |
374 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1232031956 CA371291931 |
374 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4756650 rs777238502 |
376 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000597302 CA4756649 rs117423932 |
377 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA371291885 rs1363692933 |
381 | I>L | No |
ClinGen TOPMed |
|
|
CA4756648 rs761294119 |
381 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4756647 rs775707649 |
382 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772557610 COSM280280 CA4756646 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746027683 CA4756645 |
386 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA4756643 rs770946033 |
387 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779124979 CA4756644 |
387 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749397517 CA4756642 |
388 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756640 rs754847133 |
390 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs779707560 CA4756638 |
392 | Q>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779707560 CA4756639 |
392 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756636 CA371291800 rs750037867 |
394 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1160670347 CA371291805 |
394 | M>V | No |
ClinGen gnomAD |
|
|
CA371291798 rs1184962029 COSM1552972 |
395 | H>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1406825308 CA371291787 |
396 | L>S | No |
ClinGen gnomAD |
|
|
CA4756634 RCV000886346 RCV000368943 rs142708991 |
398 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142708991 CA4756635 |
398 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA177297617 rs1012727318 |
399 | E>G | No |
ClinGen Ensembl |
|
|
rs1455455573 CA371291745 |
402 | P>L | No |
ClinGen gnomAD |
|
|
CA177297614 rs779251933 |
402 | P>T | No |
ClinGen TOPMed |
|
|
CA371291739 rs1251060298 |
403 | D>V | No |
ClinGen gnomAD |
|
|
CA371291735 rs1192994825 |
404 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1192994825 CA371291736 |
404 | P>S | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761084132 CA4756631 |
405 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756632 rs372341079 |
405 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4756600 rs745860537 |
406 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 406 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745860537 CA371291710 |
406 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1470643026 CA371291703 |
407 | F>L | No |
ClinGen gnomAD |
|
|
CA371291707 rs1326349852 |
407 | F>V | No |
ClinGen TOPMed |
|
|
rs1231634282 CA371291682 |
410 | D>G | No |
ClinGen TOPMed |
|
|
CA4756598 rs757124756 |
410 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA371291665 rs777507940 |
412 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA371291670 rs1157876121 |
412 | Y>H | No |
ClinGen gnomAD |
|
|
rs766284289 RCV000727683 |
413 | L>missing | No |
ClinVar dbSNP |
|
|
rs546561123 CA4756594 |
416 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA371291632 rs1273228573 |
417 | G>E | No |
ClinGen gnomAD |
|
|
rs201787113 CA4756592 |
417 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371291617 rs752124663 |
419 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756588 rs752124663 |
419 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773258821 CA4756585 |
422 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA177297334 rs1027036041 |
424 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA371291576 rs752679173 |
425 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585640698 CA371291581 |
425 | C>R | No |
ClinGen Ensembl |
|
|
CA371291567 rs776760317 |
426 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs768925733 CA4756581 |
428 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4756580 rs376754937 |
429 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370236722 CA4756577 |
431 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151122002 CA4756578 RCV000338273 |
431 | K>R | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
rs1421122064 CA371291523 |
433 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 433 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA177297313 rs899918229 |
434 | Y>* | No |
ClinGen TOPMed |
|
|
rs777464708 CA4756574 |
434 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777464708 CA4756575 |
434 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770804582 CA4756576 |
434 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs201341987 CA4756573 |
435 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255495349 COSM1100714 CA371291514 |
435 | M>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4756572 rs747810583 |
437 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780673203 CA4756571 |
439 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585640654 CA371291488 |
439 | S>T | No |
ClinGen Ensembl |
|
|
rs367898327 CA371291479 |
440 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3735320 rs367898327 CA4756569 |
440 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs878898857 CA177297293 |
442 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 442 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552280210 CA4756568 |
443 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552280210 CA4756567 |
443 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1216751891 CA371291461 |
444 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750778526 CA4756566 |
445 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1327924474 CA371291449 |
446 | G>R | No |
ClinGen gnomAD |
|
|
CA4756564 rs762092457 |
447 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs764215156 CA4756562 |
448 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4756563 rs754119848 |
448 | L>W | No |
ClinGen ExAC |
|
|
rs1319004357 CA371291432 |
449 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770873945 CA4756561 |
450 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756559 rs770873945 |
450 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770873945 CA4756560 |
450 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4756558 rs199557345 |
450 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976831279 CA371291422 |
451 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs976831279 CA177297264 |
451 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371291406 rs769540638 |
453 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4756556 rs769540638 |
453 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000305369 rs755342899 CA4756557 |
453 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1468435777 CA371291397 |
454 | I>S | No |
ClinGen gnomAD |
|
|
rs1265969053 CA371291387 |
456 | Q>E | No |
ClinGen gnomAD |
|
|
rs747766938 CA4756555 |
458 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891054570 CA177297250 |
459 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768104199 CA4756553 CA371291348 |
461 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371291350 rs1554558012 RCV000592678 |
461 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779580378 CA4756552 |
462 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4756551 rs779580378 RCV000592851 |
462 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1293307020 CA371291335 |
464 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 468 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM751111 rs1306463275 CA371291291 |
470 | I>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4756548 RCV000728754 rs779269724 |
470 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4756546 rs754062589 |
472 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA371291263 rs1172165463 |
474 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs764439951 CA4756545 |
474 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374163646 CA371291255 |
475 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1018328362 CA177297199 |
477 | P>S | No |
ClinGen Ensembl |
|
|
CA4756544 rs761014779 |
480 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4756543 rs148119788 |
481 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148119788 CA371291218 |
481 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4756541 rs201171633 |
483 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4756540 rs201171633 |
483 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4756539 rs201171633 |
483 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1202903 rs143725488 RCV000731822 CA4756542 |
483 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs761620465 CA4756538 |
484 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA371291182 rs1563482013 |
487 | G>D | No |
ClinGen Ensembl |
|
|
rs776227029 CA4756537 |
487 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA371291175 rs1229694535 |
488 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4756535 rs148977608 |
490 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148977608 CA4756536 |
490 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371291159 rs1415550085 |
491 | P>S | No |
ClinGen gnomAD |
|
|
rs746326323 CA4756532 |
493 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311386037 CA371291136 |
494 | D>V | No |
ClinGen gnomAD |
|
|
CA371291128 rs757599711 |
495 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779307775 CA4756531 |
495 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170211276 CA371291118 |
497 | F>L | No |
ClinGen gnomAD |
|
|
rs749635200 CA4756529 |
498 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371291110 rs1355414870 |
498 | K>Q | No |
ClinGen TOPMed |
|
|
rs1192340088 CA371291068 |
503 | H>R | No |
ClinGen gnomAD |
No associated diseases with P22680
1 regional properties for P22680
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 437 - 446 | IPR017972 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.14.23 | 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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 24-hydroxycholesterol 7alpha-hydroxylase activity | Catalysis of the reaction: (24S)-hydroxycholesterol + O2 + reduced = (24S)-7alpha-dihydroxycholesterol + H+ + H2O + oxidized |
| cholesterol 7-alpha-monooxygenase activity | Catalysis of the reaction: cholesterol + NADPH + H+ + O2 = 7-alpha-hydroxycholesterol + NADP+ + H2O. |
| 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. |
| steroid hydroxylase activity | Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| bile acid and bile salt transport | The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| bile acid biosynthetic process | The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. |
| bile acid signaling pathway | The series of molecular signals initiated by bile acid binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| cellular response to cholesterol | 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 cholesterol stimulus. |
| cellular response to glucose stimulus | 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 glucose stimulus. |
| cholesterol catabolic process | The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| negative regulation of collagen biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. |
| negative regulation of fatty acid biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. |
| positive regulation of cholesterol biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. |
| regulation of bile acid biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. |
| 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). |
| response to ethanol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
| sterol metabolic process | The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMTTSLIWGI | AIAACCCLWL | ILGIRRRQTG | EPPLENGLIP | YLGCALQFGA | NPLEFLRANQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKHGHVFTCK | LMGKYVHFIT | NPLSYHKVLC | HGKYFDWKKF | HFATSAKAFG | HRSIDPMDGN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TTENINDTFI | KTLQGHALNS | LTESMMENLQ | RIMRPPVSSN | SKTAAWVTEG | MYSFCYRVMF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EAGYLTIFGR | DLTRRDTQKA | HILNNLDNFK | QFDKVFPALV | AGLPIHMFRT | AHNAREKLAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLRHENLQKR | ESISELISLR | MFLNDTLSTF | DDLEKAKTHL | VVLWASQANT | IPATFWSLFQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MIRNPEAMKA | ATEEVKRTLE | NAGQKVSLEG | NPICLSQAEL | NDLPVLDSII | KESLRLSSAS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LNIRTAKEDF | TLHLEDGSYN | IRKDDIIALY | PQLMHLDPEI | YPDPLTFKYD | RYLDENGKTK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TTFYCNGLKL | KYYYMPFGSG | ATICPGRLFA | IHEIKQFLIL | MLSYFELELI | EGQAKCPPLD |
| 490 | 500 | ||||
| QSRAGLGILP | PLNDIEFKYK | FKHL |