Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q0P651
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q0P651-F1 | Predicted | AlphaFoldDB |
308 variants for Q0P651
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs868867503 CA105663528 |
4 | S>N | No |
ClinGen Ensembl |
|
|
CA105663529 rs759840611 CA358167912 |
4 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1230078382 CA358167938 |
6 | L>F | No |
ClinGen gnomAD |
|
|
CA358167970 rs1343618527 |
9 | L>V | No |
ClinGen TOPMed |
|
|
rs758565519 CA3077645 |
11 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1051142 CA3077644 rs750671699 |
11 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA358168015 rs1228354813 |
13 | L>P | No |
ClinGen gnomAD |
|
|
rs1390095513 CA358168019 |
14 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| rs1266588013 | 15 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190689359 CA358168093 |
20 | I>V | No |
ClinGen gnomAD |
|
|
CA105663637 rs868522262 |
21 | R>I | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755502727 CA358168134 |
23 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs755502727 CA3077650 |
23 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1165529198 CA358168156 |
25 | R>K | No |
ClinGen gnomAD |
|
|
CA3077651 rs370471176 |
26 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358168183 rs1474978064 |
27 | E>A | No |
ClinGen TOPMed |
|
|
CA358168179 rs1474978064 |
27 | E>G | No |
ClinGen TOPMed |
|
|
CA358168175 rs1456327345 |
27 | E>Q | No |
ClinGen gnomAD |
|
|
CA358168199 rs1162441342 |
28 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 28 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389034663 CA358168235 |
31 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA358168948 rs1579191298 |
38 | M>K | No |
ClinGen Ensembl |
|
|
rs1223113040 CA358168961 |
39 | I>V | No |
ClinGen TOPMed |
|
|
rs1466226523 CA358168975 |
40 | G>R | No |
ClinGen gnomAD |
|
|
rs1579191379 CA358169010 COSM1051146 |
42 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs868003753 CA105664749 |
42 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs776631224 CA3077661 |
43 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA358169035 rs1376272596 |
44 | R>G | No |
ClinGen gnomAD |
|
|
rs1453492467 CA358169072 |
46 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761613127 CA3077662 |
49 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3077663 CA358169141 rs201269910 |
51 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763200871 CA3077665 |
52 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA358169142 rs560511632 |
52 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3077664 rs560511632 |
52 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358169143 rs560511632 |
52 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546570012 CA3077666 |
53 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359236427 CA358169170 |
56 | H>R | No |
ClinGen TOPMed |
|
|
CA3077667 rs751695029 |
56 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1211021315 CA358169175 |
57 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs971145762 CA105664834 |
58 | D>V | No |
ClinGen TOPMed |
|
|
rs1286865615 CA358169519 |
60 | I>V | No |
ClinGen gnomAD |
|
|
CA358169559 rs1236149576 |
65 | D>V | No |
ClinGen TOPMed |
|
|
CA3077675 rs758185567 |
67 | K>Q | No |
ClinGen ExAC |
|
| TCGA novel | 70 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358169606 rs1275435894 |
72 | H>N | No |
ClinGen gnomAD |
|
|
CA358169610 rs1483997171 |
72 | H>R | No |
ClinGen gnomAD |
|
|
rs1216948195 CA358169622 |
74 | V>I | No |
ClinGen TOPMed |
|
|
CA358169637 rs1232113327 |
76 | P>R | No |
ClinGen gnomAD |
|
|
rs996439290 CA105669224 |
76 | P>S | No |
ClinGen TOPMed |
|
|
rs775951168 CA3077679 |
77 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199789137 CA3077681 |
78 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3077680 rs199789137 |
78 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3077682 rs773055898 |
79 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358169660 rs1432219392 |
80 | Y>H | No |
ClinGen gnomAD |
|
|
rs1168683411 CA358169693 |
83 | D>G | No |
ClinGen gnomAD |
|
|
CA3077684 rs762721892 |
84 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077686 rs186826737 |
86 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186826737 CA358169729 |
86 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186826737 CA3077685 |
86 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358169750 rs1015238270 |
88 | E>* | No |
ClinGen gnomAD |
|
|
CA105669291 rs1015238270 |
88 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3077687 rs199862084 |
90 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3077688 rs199862084 |
90 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3077689 rs752689913 |
92 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765743526 CA3077714 |
93 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1354721536 CA358172627 |
98 | V>L | No |
ClinGen gnomAD |
|
|
CA358172634 rs1289982574 |
99 | P>H | No |
ClinGen gnomAD |
|
|
rs754725341 CA3077716 |
99 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA358172638 rs1326650304 |
100 | K>E | No |
ClinGen gnomAD |
|
|
rs780694361 CA3077717 |
103 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358172674 rs1278736222 |
104 | S>N | No |
ClinGen gnomAD |
|
|
rs1443598097 CA358172681 |
105 | K>R | No |
ClinGen gnomAD |
|
|
rs867186579 CA105683100 |
106 | Y>C | No |
ClinGen gnomAD |
|
|
rs1475159428 CA358172703 |
108 | P>H | No |
ClinGen gnomAD |
|
|
CA358172705 rs1183436926 |
109 | V>I | No |
ClinGen gnomAD |
|
|
CA358172707 rs1183436926 |
109 | V>L | No |
ClinGen gnomAD |
|
|
rs1579336837 CA358172720 |
111 | I>V | No |
ClinGen Ensembl |
|
|
rs952889212 CA105683124 |
116 | T>A | No |
ClinGen TOPMed |
|
|
CA3077721 rs567962998 |
117 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358172793 rs1302079040 |
120 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 123 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358172821 rs574956758 |
124 | R>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs574956758 CA105683222 |
124 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA105683228 rs769642474 |
124 | R>Q | No |
ClinGen gnomAD |
|
|
rs773100732 COSM1426980 CA3077745 |
125 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA358172825 COSM1426982 rs1186504338 |
125 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1195658337 CA358172848 |
129 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748228526 CA358172855 |
130 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077747 rs748228526 |
130 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105683236 rs762996383 |
130 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769855907 CA3077748 |
131 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077750 rs767446806 |
132 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773598649 CA3077749 |
132 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA105683254 rs942302192 |
136 | A>S | No |
ClinGen gnomAD |
|
|
rs1422365325 CA358172899 |
137 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766702105 CA3077751 |
137 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1038337058 CA105683257 |
138 | M>R | No |
ClinGen Ensembl |
|
|
CA3077752 rs560711930 |
139 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3077753 rs560711930 |
139 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358172919 rs1392543667 |
140 | S>F | No |
ClinGen gnomAD |
|
|
CA358172923 rs1458062993 |
141 | L>S | No |
ClinGen TOPMed |
|
|
rs1161848380 CA358172929 |
142 | L>S | No |
ClinGen TOPMed |
|
|
CA3077755 rs763721644 |
145 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1463604363 CA555019932 |
147 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1560895503 CA358172993 |
148 | Y>C | No |
ClinGen Ensembl |
|
|
rs1185212348 CA358172997 |
149 | G>S | No |
ClinGen TOPMed |
|
|
CA358173006 rs777886651 |
150 | C>F | No |
ClinGen gnomAD |
|
|
CA358173008 rs777886651 |
150 | C>Y | No |
ClinGen gnomAD |
|
|
CA358173011 rs1459724296 |
151 | R>G | No |
ClinGen gnomAD |
|
|
rs1163930460 CA358173017 |
151 | R>S | No |
ClinGen gnomAD |
|
|
rs1402130350 CA358173033 |
154 | K>E | No |
ClinGen gnomAD |
|
|
CA358173052 rs1228116212 |
156 | Q>R | No |
ClinGen Ensembl |
|
|
rs1294931929 CA358169212 |
158 | R>M | No |
ClinGen TOPMed |
|
|
CA3077777 rs750162292 |
158 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077778 rs749921776 |
160 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3077780 rs762868585 |
162 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358169248 rs1234141242 |
163 | N>K | No |
ClinGen gnomAD |
|
|
rs939047850 CA105685253 |
164 | V>M | No |
ClinGen TOPMed |
|
|
CA3077783 rs199818126 |
166 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3077782 rs199818126 |
166 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3077785 rs752989934 |
167 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA3077786 rs756328534 |
170 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1175240952 CA358169298 |
171 | G>E | No |
ClinGen gnomAD |
|
|
rs777781413 CA3077788 |
172 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1433400427 CA358169316 |
174 | L>P | No |
ClinGen gnomAD |
|
|
CA358169322 rs1177604696 |
175 | V>A | No |
ClinGen gnomAD |
|
|
CA358169350 COSM1426984 rs1393459982 |
179 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1433425600 CA358169352 |
180 | A>P | No |
ClinGen gnomAD |
|
|
rs1173516874 CA358169359 |
181 | L>F | No |
ClinGen gnomAD |
|
|
rs1173516874 CA358169358 |
181 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3077791 rs779395033 CA358169385 |
184 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs200066744 CA3077793 |
187 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1579392508 CA358169408 |
188 | E>G | No |
ClinGen Ensembl |
|
|
CA3077794 rs775805089 |
188 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233622070 CA358169417 |
189 | G>V | No |
ClinGen gnomAD |
|
|
CA358169421 rs1476563489 |
190 | Y>C | No |
ClinGen gnomAD |
|
|
CA3077795 rs761417024 |
191 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772658667 CA3077797 |
194 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488608831 CA358169464 |
197 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762540377 CA3077798 |
199 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077800 rs751579898 |
200 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3077799 rs765922969 |
200 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200952665 CA358169508 |
203 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759499203 CA3077801 |
203 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077826 rs757444653 |
204 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202204733 CA105686837 |
204 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3077825 rs202204733 |
204 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765337908 CA3077827 |
207 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077828 COSM203701 rs761660121 |
208 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA105686880 rs537069265 CA3077830 |
211 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1015969705 CA105686861 |
211 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA358169798 rs1378523088 |
212 | W>C | No |
ClinGen TOPMed |
|
|
rs974862964 CA105686881 |
219 | I>N | No |
ClinGen TOPMed |
|
|
CA358169854 rs1211235725 |
219 | I>V | No |
ClinGen gnomAD |
|
|
CA358169865 rs1285788040 |
220 | P>L | No |
ClinGen gnomAD |
|
|
CA105686886 rs868337589 |
223 | S>F | No |
ClinGen Ensembl |
|
|
rs781364186 CA3077833 |
223 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1242107147 CA358169889 |
224 | W>* | No |
ClinGen gnomAD |
|
|
rs770677812 CA3077835 |
226 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358169902 rs1193627047 |
226 | T>K | No |
ClinGen gnomAD |
|
|
rs774061812 CA3077836 COSM319094 |
227 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1175774919 CA358169907 |
227 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745384841 CA3077838 |
230 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs774107227 CA3077840 |
233 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077842 rs760477366 |
233 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760477366 CA3077841 |
233 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774107227 CA3077839 |
233 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358171477 rs1219475798 |
236 | S>T | No |
ClinGen TOPMed |
|
|
rs1165359481 CA358171532 |
240 | G>* | No |
ClinGen gnomAD |
|
|
rs1027650461 CA105691426 |
240 | G>V | No |
ClinGen TOPMed |
|
|
CA3077872 rs190125887 |
241 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358171545 rs1324661433 |
241 | Q>R | No |
ClinGen gnomAD |
|
|
CA358171563 rs1383385636 |
242 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA358171553 rs1002275312 |
242 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA105691429 rs1002275312 |
242 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA105691430 rs1020392118 |
243 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325189557 CA358171588 |
246 | H>Y | No |
ClinGen gnomAD |
|
|
CA3077873 rs767921744 |
249 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA358171633 rs1294223803 |
249 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753188106 CA3077874 |
250 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA358171652 rs1231627834 |
251 | A>S | No |
ClinGen gnomAD |
|
|
rs1231627834 CA358171650 |
251 | A>T | No |
ClinGen gnomAD |
|
|
CA3077876 rs778233139 |
252 | D>E | No |
ClinGen ExAC |
|
|
CA3077875 rs756577253 |
252 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077878 rs530111747 |
257 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3077877 rs530111747 |
257 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1259642716 CA358171725 |
258 | N>Y | No |
ClinGen gnomAD |
|
|
rs779678124 CA3077879 |
260 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188395781 CA358171782 |
263 | T>A | No |
ClinGen gnomAD |
|
|
rs1560933730 CA358171787 |
263 | T>I | No |
ClinGen Ensembl |
|
|
rs1162771243 CA358171797 |
264 | L>F | No |
ClinGen TOPMed |
|
|
rs746484680 CA3077881 |
269 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358171885 rs1369784076 |
272 | V>I | No |
ClinGen TOPMed |
|
|
CA358171916 rs1163813206 |
274 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1034107618 CA105691465 |
278 | A>V | No |
ClinGen Ensembl |
|
|
rs781116601 COSM1725934 CA3077885 |
279 | D>Y | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3077886 rs748039911 |
280 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769601961 CA3077887 |
281 | H>R | No |
ClinGen ExAC |
|
|
CA358172023 rs1399875584 |
283 | S>F | No |
ClinGen gnomAD |
|
|
CA358172039 rs1402514819 |
285 | K>E | No |
ClinGen gnomAD |
|
|
CA358172063 rs1427368897 |
286 | T>I | No |
ClinGen TOPMed |
|
|
rs1035534390 CA105691473 |
287 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs199644075 CA3077890 |
289 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330582211 CA358172097 |
290 | A>T | No |
ClinGen gnomAD |
|
|
rs58225850 CA3077891 |
290 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA105691508 rs1020843129 |
296 | L>S | No |
ClinGen TOPMed |
|
|
CA358172163 rs753277762 |
297 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA3077896 rs753277762 |
297 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA3077897 rs761237962 |
299 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA358172201 rs1305812471 |
302 | K>N | No |
ClinGen TOPMed |
|
|
CA105691514 COSM3365490 rs1017084052 |
303 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA358172203 rs1280216286 |
303 | M>V | No |
ClinGen TOPMed |
|
|
CA3077899 rs373013839 |
304 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3077898 rs373013839 |
304 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3077900 rs201787908 |
305 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3077901 rs767049484 |
305 | R>H | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3077902 rs751161286 |
307 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs35763794 CA3077903 |
307 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780634500 CA3077904 |
308 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs932329900 CA105691524 |
309 | T>A | No |
ClinGen TOPMed |
|
|
CA3077905 rs748133822 |
311 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3077906 rs756016785 |
314 | K>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA105691550 COSM3365492 rs375508834 |
314 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
rs183677438 CA3077907 |
315 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3077908 rs749023538 |
316 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358172290 rs1304986347 |
317 | Y>H | No |
ClinGen gnomAD |
|
|
CA358172297 rs1268713355 |
318 | T>A | No |
ClinGen TOPMed |
|
|
rs141361679 CA3077909 |
320 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs141361679 CA3077910 |
320 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368434647 CA3077911 |
320 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282461049 CA358172317 |
321 | N>S | No |
ClinGen gnomAD |
|
|
rs772325581 CA3077912 |
322 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1251618595 CA358172342 |
325 | Y>H | No |
ClinGen gnomAD |
|
|
rs199917794 CA105691567 |
328 | L>P | No |
ClinGen 1000Genomes |
|
|
rs761329589 CA3077914 |
330 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077915 rs764681255 |
331 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1454371026 CA358172391 |
332 | Q>* | No |
ClinGen gnomAD |
|
|
CA3077916 rs777216469 |
333 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3077918 CA3077917 rs60505265 |
333 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751196852 CA3077919 |
336 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA358172417 rs751196852 |
336 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754639860 CA3077920 |
337 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA105691575 rs374051835 |
337 | L>V | No |
ClinGen ESP |
|
|
CA3077922 rs752198419 |
338 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077921 rs556836116 |
338 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1560935741 CA358172441 COSM159620 |
340 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3077923 rs568611329 |
343 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1332587397 CA358172475 |
345 | M>V | No |
ClinGen TOPMed |
|
|
CA3077926 rs749208645 |
349 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs535438593 CA3077925 |
349 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358172510 rs1324015956 |
350 | D>N | No |
ClinGen TOPMed |
|
|
rs1218528047 CA358172521 |
351 | E>A | No |
ClinGen gnomAD |
|
|
CA3077927 rs757023413 |
353 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3077928 rs778745875 |
354 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3077929 rs746113225 |
354 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1390458947 CA358172541 |
354 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3077946 rs778636734 |
361 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA358173089 rs1467261271 |
363 | D>Y | No |
ClinGen TOPMed |
|
|
CA358173095 rs1356139706 |
364 | P>T | No |
ClinGen TOPMed |
|
|
rs1487099445 CA358173111 |
366 | L>F | No |
ClinGen gnomAD |
|
|
CA105692462 rs371328232 |
367 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs866463998 CA105692468 |
368 | I>T | No |
ClinGen gnomAD |
|
|
CA105692466 rs1043191062 |
368 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 369 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105692471 rs185221344 |
370 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185221344 CA3077950 |
370 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs976781449 CA105692474 |
371 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768881032 CA3077951 |
372 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3077952 rs559977339 |
373 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748647095 CA3077953 |
374 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA358173175 rs1428481661 |
376 | A>V | No |
ClinGen gnomAD |
|
|
CA3077954 rs770330173 |
378 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3077955 rs202120305 |
380 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA358173197 rs367696956 |
380 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3077957 rs367696956 |
380 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358173205 rs1202262917 |
381 | T>I | No |
ClinGen Ensembl |
|
|
rs763322382 CA3077958 |
382 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358173218 rs1355205312 COSM3825171 |
384 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs771220150 CA3077959 |
384 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1233914674 CA358173224 |
385 | S>N | No |
ClinGen TOPMed |
|
|
rs775144265 CA3077960 |
387 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs934901153 CA105692513 |
390 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA358173267 rs1310773836 |
391 | P>S | No |
ClinGen TOPMed |
|
|
rs1215040320 CA358173275 |
392 | G>D | No |
ClinGen gnomAD |
|
|
CA3077961 rs760296163 |
393 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs149965291 CA3077962 |
396 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376691032 CA3077963 |
396 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353183446 CA358173307 |
397 | Y>C | No |
ClinGen TOPMed |
|
|
CA358173312 rs1378131893 |
398 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3077964 rs761709628 |
399 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3077965 rs765230932 COSM447359 CA358173325 |
400 | G>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
CA3077967 rs758302240 |
405 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358173365 rs1412595873 |
406 | Y>H | No |
ClinGen gnomAD |
|
|
rs1447256881 CA358173373 |
407 | L>V | No |
ClinGen TOPMed |
|
|
CA358173400 rs1158014749 |
410 | Q>H | No |
ClinGen gnomAD |
|
|
CA358173399 rs1357211635 |
410 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA105692549 rs34975863 |
411 | G>E | No |
ClinGen Ensembl |
|
|
rs1175347867 CA358173411 |
412 | L>P | No |
ClinGen TOPMed |
No associated diseases with Q0P651
1 regional properties for Q0P651
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Costars domain | 304 - 380 | IPR027817 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGVSKLDILY | RRLLLTKLFI | RGWGRPEDLK | RLFEFRKMIG | NRERCQNLVS | SDYPVHIDKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEQSDCKILD | GHFVSPMAHY | VPDIMPIESV | IARFQFIVPK | EWNSKYRPVC | IHLAGTGDHH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YWRRRTLMAR | PMIKEARMAS | LLLENPYYGC | RKPKDQVRSS | LKNVSDLFVM | GGALVLESAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLHWLEREGY | GPLGMTGISM | GGHMASLAVS | NWPKPMPLIP | CLSWSTASGV | FTTTDSFKMG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QEFVKHFTSS | ADKLTNLNLV | SRTLNLDISN | QVVSQKPADC | HNSSKTSVSA | TSEGLLLQDT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SKMKRFNQTL | STNKSGYTSR | NPQSYHLLSK | EQSRNSLRKE | SLIFMKGVMD | ECTHVANFSV |
| 370 | 380 | 390 | 400 | 410 | |
| PVDPSLIIVV | QAKEDAYIPR | TGVRSLQEIW | PGCEIRYLEG | GHISAYLFKQ | GLFR |