Q567U6
Gene name |
CCDC93 |
Protein name |
Coiled-coil domain-containing protein 93 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54520 |
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
Autoinhibited structure
Activated structure
2 structures for Q567U6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8F2U | EM | 353 A | N | 1-631 | PDB |
| AF-Q567U6-F1 | Predicted | AlphaFoldDB |
472 variants for Q567U6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs982727301 CA54577817 |
2 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348336037 CA1844996 rs572505275 |
3 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767427061 CA1844997 |
3 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA348336033 rs1294772841 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA1844994 rs770677051 |
5 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA348336000 rs772677010 |
9 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844992 rs772677010 |
9 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769588404 CA1844991 |
10 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs375536207 CA348335988 |
11 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375536207 CA1844990 |
11 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370651764 CA1844989 |
12 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370651764 CA54577751 |
12 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844986 rs373187880 |
13 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54573276 rs1053431530 |
17 | T>A | No |
ClinGen Ensembl |
|
|
rs747844112 CA348335897 |
22 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573535617 CA348335889 |
23 | Q>H | No |
ClinGen Ensembl |
|
|
CA348335879 rs1208756681 |
25 | V>I | No |
ClinGen TOPMed |
|
|
rs1558808201 CA348335869 |
26 | K>R | No |
ClinGen Ensembl |
|
|
CA348335840 rs1335593085 |
30 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1380102236 CA348335843 |
30 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1237247088 CA348335836 |
31 | L>V | No |
ClinGen TOPMed |
|
|
CA1844970 rs544335383 |
32 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA54573212 rs544335383 |
32 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348335765 rs1441562401 |
42 | A>T | No |
ClinGen gnomAD |
|
|
CA1844968 rs746561328 |
43 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA348335742 rs1160273219 |
45 | K>T | No |
ClinGen TOPMed |
|
|
rs762485014 CA54573178 |
48 | S>P | No |
ClinGen Ensembl |
|
|
CA348335717 rs1281141557 |
49 | P>H | No |
ClinGen gnomAD |
|
|
rs775124006 CA1844947 |
62 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs761242541 CA54571554 |
62 | T>S | No |
ClinGen Ensembl |
|
|
rs1428343767 CA348335465 |
63 | T>A | No |
ClinGen gnomAD |
|
|
rs1426097668 CA348335460 |
63 | T>I | No |
ClinGen gnomAD |
|
|
CA1844945 rs749838435 |
66 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1844944 rs778086495 |
67 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA54571531 rs1044736618 |
68 | V>I | No |
ClinGen TOPMed |
|
|
CA54571524 rs930315541 |
70 | V>F | No |
ClinGen Ensembl |
|
|
rs1450844390 CA348335402 |
72 | L>V | No |
ClinGen TOPMed |
|
|
rs1314760969 CA348335394 |
73 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772074897 CA54571497 |
75 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs920314790 CA54571503 |
75 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 77 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1844941 rs781337040 |
78 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375816525 CA1844940 |
79 | T>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 84 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960590162 CA54566444 |
85 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 90 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468601392 CA348334880 |
90 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177482387 CA348334851 |
92 | S>L | No |
ClinGen gnomAD |
|
|
rs763988055 CA1844912 |
95 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844913 rs763988055 |
95 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439712820 CA348334752 |
101 | H>R | No |
ClinGen gnomAD |
|
|
CA1844910 rs767103390 |
102 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA348334741 rs1197967632 |
102 | Q>R | No |
ClinGen TOPMed |
|
|
CA348334722 rs1181326878 |
103 | L>P | No |
ClinGen gnomAD |
|
|
CA54566381 rs1033599760 TCGA novel |
104 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
| TCGA novel | 105 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773912518 CA1844907 |
109 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA348334614 rs1558804077 |
111 | M>L | No |
ClinGen Ensembl |
|
|
CA348334593 rs1354461276 |
112 | D>G | No |
ClinGen gnomAD |
|
|
CA1844905 rs763147634 |
112 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776841417 CA1844904 |
114 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA348334563 rs776841417 |
114 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs867011947 CA54566323 |
115 | H>N | No |
ClinGen Ensembl |
|
|
CA348334552 rs1450690524 |
115 | H>R | No |
ClinGen gnomAD |
|
|
CA1844902 rs747367448 |
116 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755451281 CA54566296 |
118 | P>A | No |
ClinGen Ensembl |
|
|
CA1844901 rs775715315 |
120 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844881 rs775777300 |
122 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1166423716 CA348334093 |
123 | L>P | No |
ClinGen gnomAD |
|
|
rs200821912 CA1844879 |
124 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs774550662 CA1844878 |
125 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777697897 CA1844876 |
126 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs777697897 CA1844877 |
126 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs560250128 CA1844873 |
126 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560250128 CA1844874 |
126 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779713937 CA1844870 |
127 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1844869 rs779713937 |
127 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1844872 rs754607494 |
127 | A>S | No |
ClinGen ExAC |
|
|
CA1844871 rs754607494 |
127 | A>T | No |
ClinGen ExAC |
|
|
rs779713937 CA348334057 |
127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA348334048 rs1488159170 |
128 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757837500 CA1844868 |
128 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348334032 rs1223988540 |
129 | E>D | No |
ClinGen gnomAD |
|
|
rs1266295183 CA348334039 |
129 | E>G | No |
ClinGen gnomAD |
|
|
rs1377348465 CA348334022 |
130 | T>R | No |
ClinGen TOPMed |
|
|
rs1558801559 CA348333991 |
133 | E>* | No |
ClinGen Ensembl |
|
|
CA348333980 rs757971766 |
133 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54561869 rs113727191 |
133 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 133 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM387077 rs764651148 CA348333968 CA1844866 |
134 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1558801527 CA348333979 |
134 | M>V | No |
ClinGen Ensembl |
|
|
CA1844864 rs753072596 |
137 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs548297852 CA1844863 |
138 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1844862 rs760000721 COSM3713369 |
139 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1844861 rs374030570 |
139 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348333860 rs1294978561 |
140 | S>F | No |
ClinGen gnomAD |
|
|
rs1309220292 CA348333841 |
141 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 142 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348333821 rs1384635969 |
143 | V>I | No |
ClinGen TOPMed |
|
|
CA348333822 rs1384635969 |
143 | V>L | No |
ClinGen TOPMed |
|
|
CA1844859 rs763029252 |
146 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1466936673 CA348333772 |
147 | Q>* | No |
ClinGen gnomAD |
|
|
rs930202687 CA54561765 |
147 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1573524114 CA348333758 |
148 | K>E | No |
ClinGen Ensembl |
|
|
rs773220121 CA1844858 |
148 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1844857 rs769743231 |
150 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA54561734 rs986213493 |
151 | S>I | No |
ClinGen Ensembl |
|
|
rs748087247 CA1844856 |
154 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765185486 CA1844838 |
155 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304953779 CA348333530 |
156 | D>H | No |
ClinGen gnomAD |
|
|
CA1844837 rs761987086 |
156 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA348333514 rs1181360503 |
157 | D>G | No |
ClinGen TOPMed |
|
|
CA348333516 rs1258223503 |
157 | D>Y | No |
ClinGen gnomAD |
|
|
CA348333508 rs1364608510 |
158 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs985326993 CA54560982 |
164 | K>N | No |
ClinGen TOPMed |
|
|
rs1352281642 CA348333453 |
165 | A>V | No |
ClinGen gnomAD |
|
|
CA54560981 rs748384094 |
166 | I>N | No |
ClinGen Ensembl |
|
|
rs768595029 CA1844835 |
168 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA348333416 rs146559024 |
171 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844834 rs146559024 |
171 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750813537 CA348332864 |
175 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1844804 rs750813537 |
175 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA348332865 rs1164589529 |
175 | V>M | No |
ClinGen TOPMed |
|
|
rs1288732412 CA348332857 |
176 | Y>C | No |
ClinGen gnomAD |
|
|
rs757543411 CA348332846 |
178 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753884678 CA1844801 |
178 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA348332843 rs753884678 |
178 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1844802 rs757543411 |
178 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_054108 CA1844800 rs33975708 |
179 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146353723 CA1844798 |
179 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146353723 CA1844799 |
179 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759191385 CA1844796 |
180 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767493504 CA1844797 |
180 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323196016 CA348332822 |
182 | Y>* | No |
ClinGen gnomAD |
|
|
CA1844795 rs547383441 |
182 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1844794 rs770482744 |
183 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844793 rs762731633 |
184 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773023570 COSM1613330 CA1844792 |
184 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1450869566 CA348332791 |
187 | G>E | No |
ClinGen gnomAD |
|
|
CA1844791 rs769391785 |
187 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382438779 CA348332783 |
189 | E>K | No |
ClinGen gnomAD |
|
|
rs1196411222 CA348332764 |
191 | L>P | No |
ClinGen gnomAD |
|
|
rs200757900 CA1844789 |
192 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844788 rs200757900 |
192 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348332752 rs746214930 |
193 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA348332757 rs1245596635 |
193 | D>N | No |
ClinGen gnomAD |
|
|
CA1844786 rs375214898 |
194 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757450696 COSM1172797 CA1844785 |
197 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM202216 CA1844784 rs754008225 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1399024 rs531145241 CA54554494 |
200 | A>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA54554492 rs758924778 |
201 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348332704 rs1489536910 |
201 | T>I | No |
ClinGen TOPMed |
|
|
CA348332706 rs758924778 |
201 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA54554478 rs187777209 |
202 | L>F | No |
ClinGen 1000Genomes |
|
|
rs778000234 CA1844783 |
203 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1844781 rs752835316 |
205 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1307411031 CA348332354 |
208 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1285924926 CA348332348 |
208 | R>S | No |
ClinGen TOPMed |
|
|
rs1381401803 CA348332344 |
209 | Y>C | No |
ClinGen TOPMed |
|
|
CA1844767 rs746438552 |
210 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844765 rs34095554 VAR_054109 |
213 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs138746784 CA1844764 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138746784 CA348332315 |
213 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348332280 rs1335393824 |
218 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 220 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321539819 CA348332247 |
220 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348332243 rs1235740136 |
221 | E>A | No |
ClinGen gnomAD |
|
|
rs773628715 COSM1005862 CA1844745 |
224 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs200815626 CA1844744 |
225 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368632876 CA1844741 |
226 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1043289000 CA54548921 |
227 | L>I | No |
ClinGen Ensembl |
|
|
VAR_054110 rs17512204 CA1844740 |
228 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA348332198 rs1291469998 |
228 | P>S | No |
ClinGen gnomAD |
|
|
CA1844738 rs758476502 |
230 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750213336 CA1844737 |
231 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765174029 CA1844736 |
232 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191929076 CA1844735 |
234 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372095143 CA348332165 |
234 | T>I | No |
ClinGen TOPMed |
|
|
CA1844732 rs760173703 |
236 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA54548872 rs866209565 |
239 | A>V | No |
ClinGen gnomAD |
|
|
rs766862811 CA1844729 |
241 | E>K | No |
ClinGen ExAC |
|
|
rs1369643221 CA348332089 |
245 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 245 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220973239 CA348332080 |
247 | A>T | No |
ClinGen TOPMed |
|
|
CA348332038 rs1199078015 |
251 | Q>* | No |
ClinGen gnomAD |
|
|
CA1844707 rs146540432 |
252 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844706 rs188870650 |
252 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348332019 rs1302154012 |
254 | Q>* | No |
ClinGen gnomAD |
|
|
rs762227659 CA1844705 |
254 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779620059 CA1844704 |
255 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779620059 CA54548719 |
255 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348332000 rs1230812804 |
257 | M>I | No |
ClinGen TOPMed |
|
|
CA54548713 rs974310684 |
257 | M>T | No |
ClinGen TOPMed |
|
|
rs1175833541 CA348332005 |
257 | M>V | No |
ClinGen gnomAD |
|
|
CA1844702 rs377352172 |
259 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348331970 rs1219313595 |
261 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348331969 rs577490713 |
262 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1844700 rs577490713 |
262 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867273470 CA54548699 |
263 | M>I | No |
ClinGen Ensembl |
|
|
rs368407933 CA1844699 |
263 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA54548696 rs553650037 |
265 | N>D | No |
ClinGen Ensembl |
|
|
CA348331949 rs1254707617 |
265 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs183129016 CA1844698 |
266 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348331937 rs1485737961 |
267 | E>K | No |
ClinGen gnomAD |
|
|
CA1844682 rs772434663 |
269 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140577157 CA1844681 |
269 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348331617 rs1449527706 |
270 | L>F | No |
ClinGen gnomAD |
|
|
rs1266146892 CA348331605 |
271 | T>N | No |
ClinGen gnomAD |
|
|
rs377718905 CA1844679 |
272 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377718905 CA1844678 |
272 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769537277 CA1844676 |
273 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844674 rs780811895 |
274 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844673 rs754693427 |
275 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348331554 rs1325428178 |
276 | G>S | No |
ClinGen gnomAD |
|
|
rs374241278 CA1844671 |
278 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374241278 CA1844672 |
278 | I>T | Variant assessed as Somatic; 4.692e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1844670 rs369512557 |
280 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764669710 CA1844668 |
283 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1169145371 CA348331459 |
284 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476732135 CA348331445 |
285 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375420124 CA54548283 |
286 | I>T | No |
ClinGen Ensembl |
|
|
CA54548280 rs951050424 |
287 | K>N | No |
ClinGen TOPMed |
|
|
CA348331400 rs1193851003 |
289 | I>F | No |
ClinGen gnomAD |
|
|
rs767844842 CA1844665 |
291 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767844842 CA348331385 |
291 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1200105 CA1844663 rs372750359 |
292 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA54543693 rs900834730 |
297 | Q>* | No |
ClinGen TOPMed |
|
|
CA348330328 rs900834730 |
297 | Q>E | No |
ClinGen TOPMed |
|
|
CA348330306 rs1483446810 |
297 | Q>H | No |
ClinGen TOPMed |
|
|
CA348330314 rs1374481901 |
297 | Q>P | No |
ClinGen gnomAD |
|
|
rs777649677 CA54543690 |
298 | S>C | No |
ClinGen Ensembl |
|
|
CA54543691 rs1040756389 |
298 | S>P | No |
ClinGen TOPMed |
|
|
rs1354341144 CA348330291 |
299 | E>G | No |
ClinGen gnomAD |
|
|
CA348330295 rs1446450248 |
299 | E>K | No |
ClinGen gnomAD |
|
|
rs762882454 CA1844643 |
300 | L>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs149812101 CA54543685 |
302 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348330257 rs1157855167 |
304 | E>D | No |
ClinGen gnomAD |
|
|
rs1358269449 CA348330260 |
304 | E>G | No |
ClinGen gnomAD |
|
|
rs769855202 CA1844642 |
305 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765129613 CA1844641 |
306 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1844640 rs761788327 |
308 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA54543679 rs925540598 |
309 | L>* | No |
ClinGen Ensembl |
|
|
rs1474846863 CA348330224 |
309 | L>F | No |
ClinGen gnomAD |
|
|
rs902942102 CA54543676 |
315 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| VAR_035499 | 315 | H>R | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA1844637 rs746828863 |
316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844636 rs774950823 |
316 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs746828863 CA348330185 |
316 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844634 rs745363342 |
317 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200247512 CA1844635 COSM362044 |
317 | R>W | lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA54543672 rs867173315 |
320 | I>N | No |
ClinGen Ensembl |
|
|
rs1226908460 CA348330156 |
321 | S>A | No |
ClinGen gnomAD |
|
|
CA348330155 rs1355392634 COSM3735590 |
321 | S>F | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs778603020 CA1844633 |
322 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA348330118 rs1416117673 |
326 | I>T | No |
ClinGen gnomAD |
|
|
rs151101188 CA348330111 |
327 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844632 rs151101188 |
327 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 328 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348330106 rs1213740768 |
328 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 329 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1844630 rs781772141 |
331 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844628 rs751965097 |
332 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs755230211 CA1844629 |
332 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1844627 rs780137457 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs926437344 CA54543663 |
335 | E>G | No |
ClinGen gnomAD |
|
|
CA348330062 rs1476249179 |
335 | E>K | No |
ClinGen gnomAD |
|
|
rs368763445 CA1844609 |
337 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368763445 CA1844610 |
337 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780519084 CA1844608 |
338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1480933728 CA348335645 |
341 | T>I | No |
ClinGen TOPMed |
|
|
rs1254016298 CA348335650 |
341 | T>P | No |
ClinGen gnomAD |
|
|
CA348335639 rs1203213192 |
342 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348335637 rs1422185731 |
342 | S>R | No |
ClinGen TOPMed |
|
|
CA1844607 rs758713336 |
345 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA348335610 rs1251203733 |
347 | Y>H | No |
ClinGen gnomAD |
|
|
rs972375174 CA54542199 |
348 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1844605 rs111848781 |
349 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA54542196 rs111848781 |
349 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1844604 rs757273236 |
351 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1005860 CA1844603 rs753979004 |
353 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1376314496 CA348335293 |
358 | K>R | No |
ClinGen gnomAD |
|
|
rs1175732311 CA348335272 |
361 | S>N | No |
ClinGen gnomAD |
|
|
rs908015789 CA348335251 |
364 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1183233860 CA348335249 |
364 | L>Q | No |
ClinGen gnomAD |
|
|
rs757545240 CA1844585 |
365 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1421408246 CA348335246 |
365 | D>H | No |
ClinGen gnomAD |
|
|
CA348335210 rs1485686657 |
369 | A>V | No |
ClinGen gnomAD |
|
|
CA54541470 rs983638561 |
370 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs983638561 CA348335209 |
370 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752637002 CA1844581 |
372 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs756165776 CA1844582 |
372 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754761873 CA1844579 |
374 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs767359277 CA1844580 |
374 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844577 rs766124263 |
375 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751983591 CA1844578 |
375 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762745507 CA1844576 |
378 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348335155 rs1282918254 |
378 | A>V | No |
ClinGen TOPMed |
|
|
rs368262892 CA1844575 |
380 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844553 rs767983584 |
381 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348335121 rs1244107669 |
382 | I>V | No |
ClinGen gnomAD |
|
|
rs771240780 CA1844550 |
388 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54541176 rs558356235 |
390 | V>A | No |
ClinGen Ensembl |
|
|
rs1573479415 CA348335071 |
390 | V>L | No |
ClinGen Ensembl |
|
|
rs773425552 CA1844548 |
391 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844549 rs773425552 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348335062 rs1469766190 |
392 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769967352 CA1844547 |
393 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs748253637 CA1844546 |
399 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1844545 rs527316000 |
400 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348334993 rs1230884784 |
401 | Q>* | No |
ClinGen gnomAD |
|
|
rs1016389201 CA54541166 |
402 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1369322125 CA348334962 |
405 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774975360 CA54541164 |
407 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs768880837 CA1844544 |
408 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1844542 rs780144445 |
408 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780144445 CA1844543 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750776665 CA1844513 |
409 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA348334900 rs1257142132 |
409 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1844511 rs530152837 |
411 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530152837 CA1844512 |
411 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1282612370 CA348334832 |
413 | R>* | No |
ClinGen gnomAD |
|
|
CA348334827 rs775274028 |
413 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844510 rs775274028 |
413 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352070814 CA348334802 |
415 | Q>H | No |
ClinGen gnomAD |
|
|
CA54540771 rs1005389551 |
415 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348334788 rs1290697981 |
416 | Q>P | No |
ClinGen gnomAD |
|
|
CA348334746 rs764469062 |
418 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764469062 CA1844509 |
418 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313187778 CA348334712 |
420 | N>K | No |
ClinGen gnomAD |
|
|
rs1449756928 CA348334666 |
424 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205569068 CA348334649 |
426 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760836670 CA1844508 |
427 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765211376 CA1844507 |
428 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844505 COSM385672 rs138026247 |
428 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138026247 CA1844506 |
428 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1844503 rs376640225 |
430 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 431 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754324382 CA1844491 |
433 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348334495 rs1573477093 |
433 | T>P | No |
ClinGen Ensembl |
|
|
rs1165607279 CA348334488 |
434 | L>F | No |
ClinGen gnomAD |
|
|
CA54540377 rs1049951957 |
436 | S>G | No |
ClinGen TOPMed |
|
|
CA348334478 rs1049951957 |
436 | S>R | No |
ClinGen TOPMed |
|
|
rs1320333250 CA348334465 |
438 | E>K | No |
ClinGen TOPMed |
|
|
rs1320333250 CA348334464 |
438 | E>Q | No |
ClinGen TOPMed |
|
|
rs141821049 CA1844490 |
439 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348334457 rs1417698438 |
439 | P>S | No |
ClinGen gnomAD |
|
|
rs1212150342 CA348334439 |
442 | T>A | No |
ClinGen gnomAD |
|
|
CA1844488 rs577755174 |
443 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1266566056 CA348334423 |
444 | T>I | No |
ClinGen TOPMed |
|
|
CA54540363 rs774112868 |
445 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 445 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 446 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767451265 CA1844487 |
446 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA54540359 rs912436800 |
448 | T>A | No |
ClinGen TOPMed |
|
|
CA348334399 rs1305237881 |
448 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348334403 rs912436800 |
448 | T>P | No |
ClinGen TOPMed |
|
|
rs1214780614 CA348334395 COSM1613329 |
449 | H>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs375460660 CA54540356 |
450 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844462 rs776136914 |
453 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs768423918 CA1844461 |
453 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149174692 CA1844459 |
456 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142085524 CA1844460 |
456 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1844457 rs749776201 |
457 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778425253 CA1844456 |
458 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs756485447 CA1844455 |
459 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753167698 CA1844454 |
459 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs781263452 CA1844453 |
461 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs766432802 CA1844450 |
464 | L>F | No |
ClinGen ExAC gnomAD |
|
|
VAR_054111 rs17047557 CA1844449 |
465 | Y>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750303114 CA1844448 |
467 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs765217420 CA1844447 |
468 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348334255 rs1467105888 |
468 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1364450989 CA348334250 |
469 | L>S | No |
ClinGen TOPMed |
|
|
rs776531013 CA1844445 |
471 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775146748 CA348333907 |
473 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1844422 rs775146748 |
473 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs147959653 CA1844420 |
473 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147959653 CA1844421 |
473 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774041462 CA1844419 |
474 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA54539166 rs775660660 |
474 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1844418 rs770401792 |
476 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144153360 CA1844417 |
476 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1844416 rs777035750 |
477 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933475665 COSM333396 CA54539158 |
478 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1179777677 CA348333811 |
480 | I>V | No |
ClinGen gnomAD |
|
|
CA1844415 rs768998173 |
481 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA348333781 rs1319111930 |
482 | H>Y | No |
ClinGen TOPMed |
|
|
CA1844414 rs747392111 |
483 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780250232 CA1844413 |
483 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844412 rs758662628 |
484 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1014127039 CA54539148 |
484 | K>M | No |
ClinGen Ensembl |
|
|
CA1844411 rs745926874 |
485 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 485 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348333726 rs1220113033 |
486 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1220113033 CA348333722 |
486 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348333683 rs1243577233 |
489 | P>L | No |
ClinGen TOPMed |
|
|
CA348333679 rs1158227384 |
490 | S>G | No |
ClinGen gnomAD |
|
|
rs778918390 CA1844410 |
491 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844409 rs150518527 |
491 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 492 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206757961 CA348333647 |
493 | E>K | No |
ClinGen TOPMed |
|
|
rs763956132 CA1844407 |
494 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372412683 CA1844406 |
496 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1844405 rs752603176 |
497 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs867740698 CA54539133 |
498 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 499 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1844404 rs767245569 |
500 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1844402 rs148434878 |
506 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs979411640 CA54539127 |
506 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756042609 CA1844385 |
509 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1844384 rs752515553 |
512 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348333357 rs1359361438 |
513 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 514 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1844382 rs754849739 |
515 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA348333275 rs1211894354 |
524 | T>N | No |
ClinGen TOPMed |
|
|
rs1573471535 CA348333263 |
526 | D>G | No |
ClinGen Ensembl |
|
|
rs762519962 CA1844379 |
527 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 527 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165497018 CA348333248 |
528 | K>R | No |
ClinGen gnomAD |
|
|
rs1446618163 CA348333238 |
529 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1407297420 CA348333244 |
529 | K>Q | No |
ClinGen gnomAD |
|
|
CA348333198 rs969718782 |
535 | E>* | No |
ClinGen gnomAD |
|
|
CA54538618 rs969718782 |
535 | E>K | No |
ClinGen gnomAD |
|
|
rs199804694 CA54538023 |
536 | I>M | No |
ClinGen Ensembl |
|
|
CA54538021 rs1014200589 |
537 | S>G | No |
ClinGen TOPMed |
|
|
CA1844361 rs754761942 |
542 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751467046 CA1844360 |
543 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1372571841 CA348333123 |
544 | E>D | No |
ClinGen gnomAD |
|
|
rs1410684207 CA348333127 |
544 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 545 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1844338 rs778643662 |
550 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1026172454 CA54537675 |
553 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376037036 CA54537672 |
554 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1844335 rs138708100 |
556 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1844336 rs372727967 |
556 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755684889 CA54537667 |
557 | D>E | No |
ClinGen gnomAD |
|
|
rs1229806585 CA348333033 |
557 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348333001 rs1352896320 |
561 | R>C | No |
ClinGen gnomAD |
|
|
CA1844334 rs140975342 |
561 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168545543 CA348332994 |
562 | Q>R | No |
ClinGen TOPMed |
|
|
rs1462851867 CA348332985 |
563 | M>I | No |
ClinGen TOPMed |
|
|
CA1844333 rs147078459 |
563 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766610084 CA1844332 |
564 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763379685 CA1844331 |
566 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA348332957 rs1170004478 |
567 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 567 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364318199 CA348332940 |
570 | I>V | No |
ClinGen TOPMed |
|
|
rs147943059 CA1844329 |
571 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761953219 CA1844328 |
573 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA348332916 rs1402006925 |
573 | S>N | No |
ClinGen gnomAD |
|
|
CA1844327 rs776901223 |
573 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 584 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779574804 | 617 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q567U6
No regional properties for Q567U6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q567U6 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytic recycling | The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. |
| Golgi to plasma membrane transport | The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLPRGPEGQ | GLPEVETRED | EEQNVKLTEI | LELLVAAGYF | RARIKGLSPF | DKVVGGMTWC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ITTCNFDVDV | DLLFQENSTI | GQKIALSEKI | VSVLPRMKCP | HQLEPHQIQG | MDFIHIFPVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QWLVKRAIET | KEEMGDYIRS | YSVSQFQKTY | SLPEDDDFIK | RKEKAIKTVV | DLSEVYKPRR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KYKRHQGAEE | LLDEESRIHA | TLLEYGRRYG | FSRQSKMEKA | EDKKTALPAG | LSATEKADAH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEDELRAAEE | QRIQSLMTKM | TAMANEESRL | TASSVGQIVG | LCSAEIKQIV | SEYAEKQSEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SAEESPEKLG | TSQLHRRKVI | SLNKQIAQKT | KHLEELRASH | TSLQARYNEA | KKTLTELKTY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SEKLDKEQAA | LEKIESKADP | SILQNLRALV | AMNENLKSQE | QEFKAHCREE | MTRLQQEIEN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKAERAPRGD | EKTLSSGEPP | GTLTSAMTHD | EDLDRRYNME | KEKLYKIRLL | QARRNREIAI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LHRKIDEVPS | RAELIQYQKR | FIELYRQISA | VHKETKQFFT | LYNTLDDKKV | YLEKEISLLN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SIHENFSQAM | ASPAARDQFL | RQMEQIVEGI | KQSRMKMEKK | KQENKMRRDQ | LNDQYLELLE |
| 610 | 620 | 630 | |||
| KQRLYFKTVK | EFKEEGRKNE | MLLSKVKAKA | S |