P45844
PR
Gene name |
ABCG1 |
Protein name |
ATP-binding cassette sub-family G member 1 |
Names |
ATP-binding cassette transporter 8, White protein homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9619 |
EC number |
|
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
472 variants for P45844
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA410355848 rs769423410 |
3 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA10040798 rs769423410 |
3 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10040800 rs762723810 |
4 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs374037200 CA321512887 |
5 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA410356041 rs1467617127 |
7 | A>V | No |
ClinGen TOPMed |
|
|
CA410356103 rs1261788064 |
9 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763926134 CA10040801 |
12 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200120920 CA410356719 |
12 | T>P | No |
ClinGen TOPMed |
|
|
rs549549145 CA10040804 |
14 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410359157 rs1286613823 |
16 | A>D | No |
ClinGen gnomAD |
|
|
CA410359154 rs1569207752 |
16 | A>T | No |
ClinGen Ensembl |
|
|
rs148797794 CA10040844 |
17 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10040845 rs760569439 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA321517323 rs927594576 |
18 | S>T | No |
ClinGen TOPMed |
|
|
rs770931068 CA10040846 |
19 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA410359199 rs1196222027 |
22 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs144780823 CA10040849 |
24 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs572212940 CA10040848 |
24 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410359217 rs1425860581 |
25 | E>G | No |
ClinGen TOPMed |
|
|
rs1179582510 CA410359214 |
25 | E>Q | No |
ClinGen gnomAD |
|
|
rs1254515381 CA410359232 |
27 | K>N | No |
ClinGen TOPMed |
|
|
rs374760060 CA10040853 |
27 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10040852 rs374760060 |
27 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA321517387 rs916407874 COSM1636833 COSM1636834 |
28 | S>L | Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA410359247 rs1404157574 |
30 | C>Y | No |
ClinGen gnomAD |
|
|
CA410359255 rs1417981352 |
31 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1323471896 CA410359258 |
32 | S>A | No |
ClinGen gnomAD |
|
|
COSM255282 rs1366590187 COSM255281 CA410359263 |
32 | S>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs753281316 CA10040857 |
34 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs372754065 CA10040858 |
35 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10040859 rs778521666 |
36 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10040860 rs747843145 |
39 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA410359320 rs1250756900 |
41 | M>I | No |
ClinGen gnomAD |
|
|
CA10040862 rs777391482 |
41 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA10040861 rs771865104 CA410359317 |
41 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA410359316 rs771865104 |
41 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10040863 rs746843176 |
42 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA410359334 rs1183517157 |
43 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA410359335 rs1183517157 |
43 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10040864 rs766235564 COSM444531 COSM444530 |
46 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10040866 rs543052184 |
51 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10040867 rs770050293 |
52 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs901180890 CA321517447 |
52 | H>Y | No |
ClinGen TOPMed |
|
| rs1426985067 | 56 | V>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410359416 rs1167151091 |
56 | V>E | No |
ClinGen gnomAD |
|
|
rs775824838 CA10040868 |
57 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1338787074 CA410359451 |
61 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1331056025 CA410359450 |
61 | T>S | No |
ClinGen gnomAD |
|
|
CA410359466 rs1307904148 |
63 | A>V | No |
ClinGen gnomAD |
|
|
CA10040870 rs200360236 |
65 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200360236 CA410359476 |
65 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321517489 rs959974308 |
65 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM725070 rs959974308 COSM725071 CA410359477 |
65 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs200360236 CA321517479 |
65 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10040872 rs774525721 |
66 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1011052494 CA321517494 |
66 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1197187503 CA410359533 |
70 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10040875 rs750984103 |
71 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768010170 CA10040874 |
71 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764762326 CA10040877 |
73 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1447034976 CA410359574 |
74 | A>D | No |
ClinGen gnomAD |
|
|
rs752283358 CA10040878 |
75 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1209980034 CA410359614 |
77 | I>T | No |
ClinGen TOPMed |
|
|
rs1462759894 CA410359645 |
79 | F>L | No |
ClinGen gnomAD |
|
|
rs1372868565 CA410359634 |
79 | F>L | No |
ClinGen gnomAD |
|
|
rs1310649727 CA410359672 |
81 | D>H | No |
ClinGen gnomAD |
|
|
rs777493659 CA10040880 |
83 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757135495 CA10040882 |
84 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA410359730 rs1569208088 |
84 | Y>H | No |
ClinGen Ensembl |
|
|
rs781254615 CA10040883 |
85 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10040885 rs769884094 |
86 | V>I | No |
ClinGen ExAC |
|
|
rs1307878811 CA410359788 |
88 | E>K | No |
ClinGen TOPMed |
|
|
CA10040886 rs775667157 |
90 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs749403981 CA10040887 |
92 | W>* | No |
ClinGen ExAC |
|
|
rs1272752933 CA410359878 |
92 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410359897 rs1343907224 |
93 | R>K | No |
ClinGen gnomAD |
|
|
rs796286205 CA321517610 |
96 | G>* | No |
ClinGen TOPMed |
|
|
CA410373736 rs1370375727 |
106 | G>E | No |
ClinGen TOPMed |
|
|
CA10040980 rs762828210 |
106 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251268394 COSM1307834 COSM1307835 CA410373748 |
108 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201167897 CA321552338 |
109 | N>H | No |
ClinGen 1000Genomes |
|
|
CA10040982 rs751574074 |
110 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs2229411 CA410373787 |
113 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757350026 CA10040983 |
113 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410373797 rs1352434694 |
115 | A>S | No |
ClinGen gnomAD |
|
|
rs756473776 CA10040986 |
117 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA410373808 rs1298264164 |
117 | M>L | No |
ClinGen gnomAD |
|
|
CA10040987 rs780522489 |
119 | P>A | No |
ClinGen ExAC |
|
|
rs996185284 CA321552367 |
121 | G>R | No |
ClinGen TOPMed |
|
|
rs953366855 CA321552392 |
122 | A>S | No |
ClinGen Ensembl |
|
|
CA410373841 rs1358937176 |
122 | A>V | No |
ClinGen TOPMed |
|
|
CA10040990 rs779564707 |
123 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410373892 rs1432305297 |
126 | T>M | No |
ClinGen TOPMed |
|
|
rs925364810 CA321552415 |
127 | L>P | No |
ClinGen Ensembl |
|
|
CA410373944 rs1226893415 |
131 | L>P | No |
ClinGen gnomAD |
|
|
rs1459136783 CA410373991 |
135 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA410374216 rs1299146937 |
137 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10041019 rs772065421 |
137 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10041018 rs772065421 |
137 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351846359 CA410374231 |
138 | G>C | No |
ClinGen TOPMed |
|
|
CA10041022 rs754169283 |
139 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766701025 CA10041021 |
139 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA410374288 rs1404869864 |
141 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 142 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759955731 CA10041023 |
142 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA321553924 rs1018443226 |
143 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA321553931 rs1041984945 |
144 | L>H | No |
ClinGen Ensembl |
|
|
CA10041025 rs753135977 |
145 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764667661 COSM1714032 CA10041027 COSM1714031 COSM1714030 |
147 | G>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1269055655 CA410374370 |
147 | G>V | No |
ClinGen gnomAD |
|
|
CA10041028 rs749898392 |
148 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1390008943 CA410374390 |
149 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567481630 CA10041030 |
150 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1406470307 CA410374406 |
150 | R>W | No |
ClinGen gnomAD |
|
|
CA10041031 rs559003978 |
151 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1295913367 CA410374445 |
152 | L>Q | No |
ClinGen gnomAD |
|
|
CA410374452 rs1326186208 |
153 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410374460 rs1362774007 |
153 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1302768127 CA410374500 |
155 | F>L | No |
ClinGen gnomAD |
|
|
rs200913389 CA321553977 |
156 | R>Q | No |
ClinGen TOPMed |
|
|
CA321553975 rs375432333 |
156 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA410374526 rs1203181328 |
158 | V>M | No |
ClinGen gnomAD |
|
|
CA10041032 rs754660769 |
159 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240706640 CA410374686 |
166 | D>E | No |
ClinGen gnomAD |
|
|
rs778526675 CA10041033 |
166 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA410374691 rs1311185090 |
167 | M>L | No |
ClinGen gnomAD |
|
|
rs747985754 CA10041034 |
170 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410374794 rs1273320141 |
174 | V>G | No |
ClinGen TOPMed |
|
|
CA410374857 rs1569230553 |
178 | M>V | No |
ClinGen Ensembl |
|
|
CA321554021 rs75083034 |
179 | M>T | No |
ClinGen Ensembl |
|
|
CA410352599 rs1569232532 |
180 | V>L | No |
ClinGen Ensembl |
|
|
rs138056067 CA10041068 |
181 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10041070 rs759147987 |
182 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA321506080 rs987211956 |
184 | L>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 185 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351081363 CA410352733 |
188 | E>K | No |
ClinGen TOPMed |
|
|
rs142441719 CA10041071 |
189 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410352853 rs1200314318 |
193 | R>I | No |
ClinGen gnomAD |
|
|
CA10041072 rs752440795 |
194 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410352986 rs1191360601 |
196 | M>I | No |
ClinGen gnomAD |
|
|
CA410352975 rs1381247169 |
196 | M>T | No |
ClinGen TOPMed |
|
|
rs752178808 CA10041093 |
199 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA410355359 rs1379333627 |
200 | I>L | No |
ClinGen gnomAD |
|
|
rs1569235279 CA410355402 |
202 | T>I | No |
ClinGen Ensembl |
|
|
rs763851709 CA410355424 |
203 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763851709 CA10041095 |
203 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950128702 CA321510516 |
205 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10041099 rs750416442 |
208 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041101 rs148193127 |
210 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10041102 rs749343398 |
211 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041103 rs768803695 |
212 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041106 COSM69496 COSM1714033 rs772470306 COSM1714034 |
213 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10041105 rs368970394 |
213 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410355612 rs1417243333 |
215 | G>E | No |
ClinGen gnomAD |
|
|
CA410355609 rs1269478908 |
215 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761202119 CA10041108 |
216 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410355671 rs1601439432 |
218 | S>* | No |
ClinGen Ensembl |
|
|
CA10041110 rs139214949 |
218 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762373789 CA10041111 |
219 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10041113 rs774196934 |
222 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM188425 COSM188426 CA410355738 rs1294780786 |
222 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1294780786 CA410355746 |
222 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs896518835 CA321510676 |
223 | K>T | No |
ClinGen Ensembl |
|
|
CA10041114 rs761671203 |
224 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM271077 rs1445295054 CA410355820 COSM271076 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA410355831 rs1445295054 |
224 | R>L | No |
ClinGen gnomAD |
|
|
rs1331236304 CA410355855 |
226 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750210537 CA10041116 |
228 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321363363 CA410355989 |
230 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs371003064 CA10041118 |
232 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267375686 CA410356149 |
236 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10041119 rs753944583 |
237 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA410356220 COSM3423974 COSM3423972 rs1601439582 COSM3423973 |
239 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs748407553 CA10041122 |
241 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10041124 rs778148942 |
244 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747347107 CA10041125 |
245 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs377226245 CA410357500 |
245 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs141125749 CA10041156 |
246 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410357532 rs1178703622 |
248 | D>N | No |
ClinGen gnomAD |
|
|
rs1601445278 CA410357557 |
249 | S>G | No |
ClinGen Ensembl |
|
|
CA10041157 rs763086277 |
249 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs199762019 CA10041159 |
250 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321512861 rs779541183 |
253 | F>Y | No |
ClinGen Ensembl |
|
|
CA321512863 rs972490949 |
254 | Q>* | No |
ClinGen Ensembl |
|
|
CA410357705 rs1274283530 |
255 | V>E | No |
ClinGen gnomAD |
|
|
CA410357718 rs1486339338 |
256 | V>L | No |
ClinGen TOPMed |
|
|
CA10041160 rs564812607 |
257 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs933739584 CA321512869 |
258 | L>V | No |
ClinGen Ensembl |
|
|
rs143199611 CA10041163 |
263 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410357829 rs1287680561 |
265 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10041164 rs780777711 |
265 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10041165 rs780777711 |
265 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs771527268 CA10041166 |
266 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410357832 rs1381788181 |
266 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771527268 CA410357840 |
266 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054811187 CA321512891 |
267 | R>C | No |
ClinGen gnomAD |
|
|
rs777446902 CA10041167 |
267 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770636682 CA10041169 |
269 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378908567 CA410357866 |
269 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10041171 rs759331454 |
274 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763057728 CA10041174 |
278 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1462997325 CA410358030 |
280 | L>H | No |
ClinGen TOPMed |
|
|
COSM4164847 COSM4164849 CA10041176 rs547556687 COSM4164848 |
282 | E>K | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs547556687 CA410358055 |
282 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410358101 rs1311117859 |
285 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1311117859 CA410358102 |
285 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10041179 rs750810181 |
286 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410358125 rs1449084818 |
286 | Q>R | No |
ClinGen TOPMed |
|
|
rs772323233 CA10041213 COSM1031016 COSM1031017 |
289 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1341912152 CA410358549 |
290 | L>M | No |
ClinGen gnomAD |
|
|
CA10041214 rs147503566 |
291 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs887792970 CA410358562 |
291 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs887792970 CA321513716 |
291 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410358611 rs760934588 |
296 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041215 rs760934588 |
296 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041217 rs776796182 |
298 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041216 rs140116524 |
298 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601447441 CA410358647 |
299 | G>V | No |
ClinGen Ensembl |
|
|
rs1601447448 CA410358650 |
300 | K>E | No |
ClinGen Ensembl |
|
|
CA410358694 rs1435423490 |
303 | N>S | No |
ClinGen gnomAD |
|
|
rs56223204 CA321513736 |
304 | L>P | No |
ClinGen Ensembl |
|
|
CA10041219 rs765650540 |
305 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA410358720 rs1486778499 |
305 | V>M | No |
ClinGen gnomAD |
|
|
rs1174420858 CA410358749 |
307 | Y>H | No |
ClinGen gnomAD |
|
|
CA10041220 rs753297151 |
309 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA410358825 rs1195368046 |
311 | L>F | No |
ClinGen gnomAD |
|
|
rs1459322566 CA410358839 |
312 | G>D | No |
ClinGen TOPMed |
|
|
CA410358853 rs1375880527 |
313 | L>Q | No |
ClinGen gnomAD |
|
|
CA410358877 rs1387043849 |
314 | N>K | No |
ClinGen TOPMed |
|
|
CA410358871 rs1477626150 |
314 | N>S | No |
ClinGen gnomAD |
|
|
rs758934699 CA10041221 |
315 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA10041222 rs766964836 |
317 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA10041223 rs766964836 |
317 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1458683554 CA410358982 |
319 | H>Q | No |
ClinGen TOPMed |
|
|
rs777925695 CA10041250 |
326 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA410359719 rs1601450760 |
328 | V>G | No |
ClinGen Ensembl |
|
|
rs1241451500 CA410359711 |
328 | V>I | No |
ClinGen gnomAD |
|
|
CA10041254 rs145438298 |
331 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10041256 rs775856302 |
332 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769136599 CA10041258 |
333 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10041261 rs760142871 |
334 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs866211577 CA321515238 |
334 | G>S | No |
ClinGen gnomAD |
|
|
CA10041263 rs753315195 |
339 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10041264 rs148226451 |
339 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764804648 CA410359996 |
341 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10041265 rs764804648 |
341 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10041267 rs758328427 |
343 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10041271 rs201983330 |
345 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201983330 CA10041270 |
345 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751587938 CA10041269 |
345 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410360093 rs1217159325 |
348 | M>I | No |
ClinGen TOPMed |
|
|
CA10041272 rs745939443 |
348 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA410360086 rs1261636191 |
348 | M>T | No |
ClinGen TOPMed |
|
|
CA410360099 rs1315990521 |
349 | C>G | No |
ClinGen gnomAD |
|
|
rs756353022 CA10041273 |
349 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1161669981 CA410360122 |
350 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769044920 CA10041276 |
353 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041277 rs774725294 |
354 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA410360161 rs1423972346 |
355 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748609747 CA10041278 |
356 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA410360177 rs1374008694 |
357 | L>F | No |
ClinGen TOPMed |
|
|
rs151254598 CA10041279 |
358 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10041280 rs776142726 |
359 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410360188 rs759038061 |
359 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041281 rs759038061 |
359 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1569239566 | 359 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10041282 rs764931677 |
360 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410360202 rs1401780715 |
361 | A>D | No |
ClinGen gnomAD |
|
|
CA410360206 rs1338502014 |
362 | E>G | No |
ClinGen gnomAD |
|
|
CA10041283 rs781438237 |
362 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs949236511 CA321515323 |
363 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1217986313 CA410360210 |
363 | V>M | No |
ClinGen gnomAD |
|
|
CA10041285 rs763941692 |
367 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751413543 CA10041286 |
368 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA321515334 rs373885762 |
370 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10041288 rs373885762 |
370 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM2149433 CA10041287 rs757151743 COSM2149434 COSM2149435 |
370 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410360260 rs1477193362 |
371 | P>A | No |
ClinGen gnomAD |
|
|
CA410360264 rs1193709806 |
371 | P>R | No |
ClinGen gnomAD |
|
|
rs386818895 CA321515338 |
372 | S>F | No |
ClinGen Ensembl |
|
|
rs557387658 CA10041289 |
372 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10041290 rs756194222 |
375 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1236119693 CA410360296 |
376 | K>R | No |
ClinGen TOPMed |
|
|
rs1174397752 CA410360305 |
377 | Q>R | No |
ClinGen gnomAD |
|
|
CA10041291 rs577566323 |
380 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs376798940 CA10041292 |
380 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369893716 CA10041293 |
381 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10041295 rs748469594 |
383 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10041294 rs779194669 |
383 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376466579 CA410360544 |
387 | D>G | No |
ClinGen gnomAD |
|
|
CA410360564 rs1199695960 |
388 | S>F | No |
ClinGen TOPMed |
|
|
CA10041336 rs748782852 |
389 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA410360584 rs1216084615 |
390 | S>T | No |
ClinGen gnomAD |
|
|
rs1601451838 CA410360612 |
391 | M>R | No |
ClinGen Ensembl |
|
|
rs1334611460 CA410360604 |
391 | M>V | No |
ClinGen gnomAD |
|
|
rs778514460 CA10041338 |
392 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256616211 CA410360622 |
392 | E>K | No |
ClinGen gnomAD |
|
|
rs778514460 CA410360632 |
392 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041339 rs368270596 |
399 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1448345605 CA410360770 |
399 | A>V | No |
ClinGen gnomAD |
|
|
rs771765054 CA10041340 |
400 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041342 rs760534980 |
401 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760534980 CA410360810 |
401 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139448062 CA10041343 |
403 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10041346 rs765262456 |
404 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1410352317 CA410360859 |
405 | F>L | No |
ClinGen gnomAD |
|
|
CA10041347 rs775662095 |
405 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA410361008 rs1446831412 |
410 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764442866 COSM116627 CA10041349 |
411 | R>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs751856034 CA10041350 |
412 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10041351 rs757743866 |
413 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA410361104 rs1569239913 |
417 | M>I | No |
ClinGen Ensembl |
|
|
CA10041352 rs768104744 |
417 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937944971 CA321515829 |
419 | D>N | No |
ClinGen TOPMed |
|
|
COSM293920 COSM293919 CA10041355 rs756708334 |
420 | S>L | large_intestine Variant assessed as Somatic; 5.237e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10041354 rs756708334 |
420 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762065526 CA410361591 |
425 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10041389 rs762065526 |
425 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1304552863 COSM1031027 COSM1031028 CA410361594 |
426 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10041390 rs772426399 |
426 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10041391 rs773704659 |
428 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA321517529 rs757223058 |
429 | S>L | No |
ClinGen gnomAD |
|
|
CA10041392 rs761163025 |
430 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA321517536 rs765237454 |
431 | I>V | No |
ClinGen Ensembl |
|
|
rs766775708 CA10041393 |
432 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763611070 CA10041396 |
434 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759995198 CA10041395 |
434 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs763611070 CA410361641 |
434 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160896596 CA410361658 |
437 | I>N | No |
ClinGen gnomAD |
|
|
CA410361676 rs1234875334 COSM1414256 COSM1414255 |
440 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM188427 COSM188428 rs1392934034 CA410361706 |
445 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs780891600 CA10041399 |
447 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410361720 rs780891600 |
447 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963515138 CA321517561 |
450 | K>R | No |
ClinGen Ensembl |
|
|
CA10041400 rs377114276 |
451 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410361756 rs1336530079 |
452 | L>S | No |
ClinGen gnomAD |
|
|
rs1335609437 CA410361772 |
454 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410361781 rs1241297323 |
455 | S>Y | No |
ClinGen gnomAD |
|
|
rs779744242 CA10041402 |
456 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410361822 rs1314846522 |
461 | S>F | No |
ClinGen gnomAD |
|
|
rs768487801 CA10041404 |
462 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041405 rs779065020 |
466 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1250822536 CA410361854 |
466 | M>T | No |
ClinGen gnomAD |
|
|
CA10041407 rs772406417 |
468 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410361867 rs1184783690 |
468 | A>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10041408 rs772406417 |
468 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10041411 rs558678693 |
471 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410361890 rs1338837882 |
472 | P>T | No |
ClinGen gnomAD |
|
|
CA10041412 rs760030822 |
474 | V>I | No |
ClinGen ExAC |
|
| TCGA novel | 475 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10041413 rs765739334 |
476 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs147988618 CA10041435 |
478 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296098717 CA410362553 |
480 | E>K | No |
ClinGen gnomAD |
|
|
rs1230740995 CA410362611 |
483 | V>G | No |
ClinGen gnomAD |
|
|
CA410362628 rs1285299295 |
484 | F>C | No |
ClinGen gnomAD |
|
|
CA321518340 COSM1684857 rs866324798 COSM1684858 COSM1684856 |
485 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA410362657 rs1323511115 |
486 | R>Q | No |
ClinGen TOPMed |
|
|
CA321518341 rs202091918 |
486 | R>W | No |
ClinGen gnomAD |
|
|
rs754866225 CA10041438 |
491 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs765239212 CA10041439 |
493 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10041442 rs777942102 |
500 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs111659272 CA321518377 |
503 | T>I | No |
ClinGen Ensembl |
|
|
CA410363018 rs1430692574 |
503 | T>P | No |
ClinGen gnomAD |
|
|
CA10041443 rs143298194 |
507 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10041444 rs143298194 |
507 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410363127 rs1389553531 |
510 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779334336 CA10041472 |
512 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs746494022 CA10041473 |
513 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs776230444 CA10041475 |
517 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770309071 CA10041474 |
517 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10041478 rs374879637 |
521 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10041479 rs374879637 |
521 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10041481 CA410363433 rs751411076 |
523 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 524 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761831525 CA10041482 |
525 | T>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1031032 COSM1031031 CA410363497 rs1406129471 |
526 | S>L | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA410363550 rs1442478823 |
530 | D>N | Variant assessed as Somatic; 4.701e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755336578 CA410363567 |
531 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755336578 CA10041488 |
531 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748557431 CA10041490 |
532 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410363593 rs1336027152 |
533 | R>C | No |
ClinGen gnomAD |
|
|
CA410363597 rs1230392604 |
533 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780786215 CA10041492 |
538 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769557787 CA10041494 |
539 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775332325 CA10041495 |
539 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA410363735 rs1476110147 |
542 | T>I | No |
ClinGen gnomAD |
|
|
rs1601458060 CA410363724 |
542 | T>P | No |
ClinGen Ensembl |
|
|
CA410363760 rs1601458077 |
544 | T>P | No |
ClinGen Ensembl |
|
|
CA410363784 rs1220114499 |
545 | S>C | No |
ClinGen Ensembl |
|
|
rs1569241918 CA410363847 |
553 | L>V | No |
ClinGen Ensembl |
|
|
CA10041500 rs767556953 |
554 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1413643910 CA410363879 |
556 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200786874 CA321519106 |
556 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA321519132 rs769061442 |
558 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041503 rs769061442 |
558 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231353030 CA410363900 |
558 | A>V | No |
ClinGen TOPMed |
|
|
CA10041505 rs755253834 |
560 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569993728 CA10041522 |
564 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1190348724 CA410364742 |
566 | T>A | No |
ClinGen gnomAD |
|
|
rs765566023 CA10041523 |
567 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA410364769 rs752990354 |
568 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752990354 CA10041524 |
568 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163576183 CA410364788 |
569 | G>D | No |
ClinGen TOPMed |
|
|
rs1468173795 CA410364822 |
571 | V>A | No |
ClinGen gnomAD |
|
|
rs374787290 CA10041526 |
575 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757850522 CA10041528 |
576 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 579 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10041529 rs779638354 |
580 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 581 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977728671 CA321522276 |
584 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754573333 CA10041531 |
586 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs770132764 CA10041533 |
591 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410364976 rs1601464704 |
594 | Q>E | No |
ClinGen Ensembl |
|
|
rs145701469 CA10041535 |
598 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10041536 rs746893208 |
601 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770862526 CA10041537 |
603 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601467259 CA410366129 |
606 | F>V | No |
ClinGen Ensembl |
|
|
CA410366144 rs768973015 |
607 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768973015 CA10041581 |
607 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA321523681 rs267606138 |
608 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 609 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368624947 CA410366215 |
611 | L>P | No |
ClinGen TOPMed |
|
|
CA410366278 rs1466527225 |
615 | G>D | No |
ClinGen gnomAD |
|
|
CA10041585 rs773460100 |
618 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041584 rs772431337 |
618 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761179577 CA410366331 |
622 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs766864363 CA10041588 |
622 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766864363 CA10041587 |
622 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041586 rs761179577 |
622 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1366985650 CA410366353 |
625 | I>V | No |
ClinGen gnomAD |
|
|
rs1429311699 CA410366359 |
626 | D>N | No |
ClinGen TOPMed |
|
|
rs199627225 CA10041591 |
628 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1569244978 CA410366408 |
632 | Q>R | No |
ClinGen Ensembl |
|
|
rs750249283 CA10041594 |
634 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10041595 rs750249283 |
634 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1381720281 CA410366424 |
635 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 636 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 636 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10041597 rs749343697 |
639 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410366451 rs1204979100 |
639 | R>W | No |
ClinGen gnomAD |
|
|
rs1191953526 CA410366463 |
641 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 645 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763701369 CA321523804 |
650 | L>P | No |
ClinGen Ensembl |
|
|
rs772187257 CA10041601 |
653 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373692935 CA10041603 |
654 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10041606 COSM3405422 COSM3405421 CA410366562 rs760071193 COSM3405423 |
656 | G>R | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
CA321523847 rs942549501 |
656 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1203293043 CA410366590 |
660 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA321523848 rs76283685 |
661 | S>P | No |
ClinGen Ensembl |
|
|
rs1302262582 CA410366608 |
663 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs919514504 COSM3785470 CA321523849 COSM3785469 COSM3785468 |
663 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA10041607 rs763550370 |
665 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA321523855 rs549568995 |
666 | A>V | No |
ClinGen Ensembl |
|
| VAR_012279 | 668 | F>L | No | UniProt | |
|
CA410366644 rs1304219533 |
669 | V>I | No |
ClinGen gnomAD |
|
|
rs773867647 CA10041608 |
671 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA10041609 rs761520661 |
671 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041610 rs767130138 |
674 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410366685 rs755897014 |
675 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10041612 rs755897014 |
675 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1181381 CA10041611 rs201747032 COSM1181380 |
675 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1377121657 CA410366705 |
678 | R>S | No |
ClinGen TOPMed |
|
|
rs753779156 CA10041614 |
679 | R>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with P45844
5 regional properties for P45844
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 77 - 317 | IPR003439 |
| domain | AAA+ ATPase domain | 110 - 293 | IPR003593 |
| domain | ABC-2 type transporter, transmembrane domain | 403 - 611 | IPR013525 |
| conserved_site | ABC transporter-like, conserved site | 217 - 231 | IPR017871 |
| domain | ABC transporter family G domain | 274 - 336 | IPR043926 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type sterol transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + sterol(in) = ADP + phosphate + sterol(out). |
| ADP binding | Binding to ADP, adenosine 5'-diphosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| cholesterol binding | Binding to 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 transfer activity | Removes cholesterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle. |
| floppase activity | Catalysis of the movement of a lipid from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP. |
| phosphatidylcholine floppase activity | Catalysis of the movement of phosphatidylcholine from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| toxin transmembrane transporter activity | Enables the transfer of a toxin from one side of a membrane to the other. A toxin is a poisonous compound (typically a protein) that is produced by cells or organisms and that can cause disease when introduced into the body or tissues of an organism. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| amyloid precursor protein catabolic process | The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of amyloid-beta, a glycoprotein associated with Alzheimer's disease. |
| cellular response to high density lipoprotein particle 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 high density lipoprotein particle stimulus. |
| cholesterol efflux | The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| glycoprotein transport | The directed movement of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| high-density lipoprotein particle remodeling | The acquisition, loss or modification of a protein or lipid within a high-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL. |
| intracellular cholesterol transport | The directed movement of cholesterol, cholest-5-en-3-beta-ol, within cells. |
| low-density lipoprotein particle remodeling | The acquisition, loss or modification of a protein or lipid within a low-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL. |
| negative regulation of cholesterol storage | Any process that decreases the rate or extent of cholesterol storage. Cholesterol storage is the accumulation and maintenance in cells or tissues 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. |
| negative regulation of macrophage derived foam cell differentiation | Any process that decreases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions. |
| phospholipid efflux | The directed movement of a phospholipid out of a cell or organelle. |
| phospholipid homeostasis | Any process involved in the maintenance of an internal steady state of phospholipid within an organism or cell. |
| positive regulation of amyloid-beta formation | Any process that activates or increases the frequency, rate or extent of amyloid-beta formation. |
| 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. |
| positive regulation of cholesterol efflux | Any process that increases the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| positive regulation of protein secretion | Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. |
| regulation of cholesterol metabolic process | Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| response to lipid | 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 a lipid stimulus. |
| response to organic substance | 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 organic substance stimulus. |
| reverse cholesterol transport | The directed movement of peripheral cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9H172 | ABCG4 | ATP-binding cassette sub-family G member 4 | Homo sapiens (Human) | PR |
| Q99PE8 | Abcg5 | ATP-binding cassette sub-family G member 5 | Mus musculus (Mouse) | PR |
| Q64343 | Abcg1 | ATP-binding cassette sub-family G member 1 | Mus musculus (Mouse) | PR |
| Q99PE7 | Abcg5 | ATP-binding cassette sub-family G member 5 | Rattus norvegicus (Rat) | PR |
| Q09466 | wht-3 | ABC transporter ATP-binding protein/permease wht-3 | Caenorhabditis elegans | PR |
| Q11180 | wht-1 | ABC transporter ATP-binding protein/permease wht-1 | Caenorhabditis elegans | PR |
| Q9MAG3 | ABCG24 | ABC transporter G family member 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M2V6 | ABCG17 | ABC transporter G family member 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9MAH4 | ABCG10 | ABC transporter G family member 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SZR9 | ABCG9 | ABC transporter G family member 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MACLMAAFSV | GTAMNASSYS | AEMTEPKSVC | VSVDEVVSSN | MEATETDLLN | GHLKKVDNNL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TEAQRFSSLP | RRAAVNIEFR | DLSYSVPEGP | WWRKKGYKTL | LKGISGKFNS | GELVAIMGPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GAGKSTLMNI | LAGYRETGMK | GAVLINGLPR | DLRCFRKVSC | YIMQDDMLLP | HLTVQEAMMV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SAHLKLQEKD | EGRREMVKEI | LTALGLLSCA | NTRTGSLSGG | QRKRLAIALE | LVNNPPVMFF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DEPTSGLDSA | SCFQVVSLMK | GLAQGGRSII | CTIHQPSAKL | FELFDQLYVL | SQGQCVYRGK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VCNLVPYLRD | LGLNCPTYHN | PADFVMEVAS | GEYGDQNSRL | VRAVREGMCD | SDHKRDLGGD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AEVNPFLWHR | PSEEVKQTKR | LKGLRKDSSS | MEGCHSFSAS | CLTQFCILFK | RTFLSIMRDS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VLTHLRITSH | IGIGLLIGLL | YLGIGNEAKK | VLSNSGFLFF | SMLFLMFAAL | MPTVLTFPLE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MGVFLREHLN | YWYSLKAYYL | AKTMADVPFQ | IMFPVAYCSI | VYWMTSQPSD | AVRFVLFAAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GTMTSLVAQS | LGLLIGAAST | SLQVATFVGP | VTAIPVLLFS | GFFVSFDTIP | TYLQWMSYIS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YVRYGFEGVI | LSIYGLDRED | LHCDIDETCH | FQKSEAILRE | LDVENAKLYL | DFIVLGIFFI |
| 670 | |||||
| SLRLIAYFVL | RYKIRAER |