Q13371
Gene name |
PDCL (PHLOP1, PhLP1) |
Protein name |
Phosducin-like protein |
Names |
PHLP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5082 |
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
13 structures for Q13371
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8SFF | EM | 320 A | P | 1-301 | PDB |
| 8SG8 | EM | 300 A | P | 1-301 | PDB |
| 8SGC | EM | 290 A | P | 48-301 | PDB |
| 8SH9 | EM | 270 A | P | 18-301 | PDB |
| 8SHA | EM | 300 A | P | 1-301 | PDB |
| 8SHF | EM | 300 A | P | 1-301 | PDB |
| 8SHG | EM | 280 A | P | 1-301 | PDB |
| 8SHL | EM | 300 A | P | 1-301 | PDB |
| 8SHO | EM | 300 A | P | 1-301 | PDB |
| 8SHP | EM | 300 A | P | 1-301 | PDB |
| 8SHQ | EM | 290 A | P | 1-301 | PDB |
| 8SHT | EM | 300 A | P | 1-301 | PDB |
| AF-Q13371-F1 | Predicted | AlphaFoldDB |
219 variants for Q13371
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA374806916 rs1231949569 |
2 | T>A | No |
ClinGen gnomAD |
|
|
CA5228611 rs143503466 |
4 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275920619 CA374806846 |
4 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA199537517 rs143503466 |
4 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275920619 CA374806840 |
4 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1219116071 CA374806836 |
5 | D>N | No |
ClinGen gnomAD |
|
|
rs778145054 CA5228609 |
11 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755576055 CA5228604 |
15 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1292568891 CA374806440 |
16 | Y>C | No |
ClinGen TOPMed |
|
|
rs1175407364 CA374806422 |
17 | Y>C | No |
ClinGen gnomAD |
|
|
rs912475594 CA199537461 |
19 | S>G | No |
ClinGen Ensembl |
|
|
rs1457879017 CA374806360 |
20 | S>G | No |
ClinGen gnomAD |
|
|
rs1198157434 CA374806264 |
22 | D>Y | No |
ClinGen TOPMed |
|
|
CA199537458 rs936888309 |
23 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs764748313 CA5228602 |
27 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5228601 rs756766356 |
28 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 28 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374806069 rs1181921618 |
29 | D>E | No |
ClinGen TOPMed |
|
|
rs753451616 CA5228600 |
30 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924228664 CA199537409 |
31 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5228599 rs763760684 |
31 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5228598 rs760445119 |
32 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374806001 rs760445119 |
32 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202460111 CA374805988 |
33 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs986639244 CA199537402 |
33 | G>V | No |
ClinGen Ensembl |
|
|
CA5228597 rs775308084 |
34 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs573093443 CA5228596 |
35 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374805887 rs199656584 |
38 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5228595 rs199656584 |
38 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374805883 rs199656584 |
38 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334226109 CA374805868 |
39 | S>N | No |
ClinGen TOPMed |
|
|
rs1030762507 CA199537370 |
40 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5228594 rs774167052 |
41 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs150213570 CA5228592 |
43 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1377218863 CA374805783 |
43 | P>H | No |
ClinGen gnomAD |
|
|
CA199537346 rs141010515 |
44 | A>P | No |
ClinGen ESP |
|
|
CA374805755 rs1302542086 |
44 | A>V | No |
ClinGen gnomAD |
|
|
CA374805737 rs1218516950 |
45 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 47 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390929511 CA374805664 |
48 | L>P | No |
ClinGen gnomAD |
|
|
CA5228590 rs770189511 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA374805600 rs1165179338 |
51 | E>D | No |
ClinGen gnomAD |
|
|
CA5228588 rs374915234 |
51 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768916899 CA374805578 |
53 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs768916899 CA5228587 |
53 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs370419579 CA5228586 |
55 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA374805514 rs1251018477 |
56 | N>S | No |
ClinGen gnomAD |
|
|
rs1277377676 CA374804023 |
61 | G>C | No |
ClinGen TOPMed |
|
|
CA374803969 rs1301816127 |
63 | I>T | No |
ClinGen gnomAD |
|
|
rs780737317 CA5228561 |
63 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs143682667 CA5228560 |
64 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374803887 rs1257187211 |
66 | W>C | No |
ClinGen TOPMed |
|
|
rs1210213103 CA374803892 |
66 | W>L | No |
ClinGen TOPMed |
|
|
rs1444290069 CA374803873 |
67 | R>C | No |
ClinGen TOPMed |
|
|
rs766387107 CA5228558 |
68 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1104913 rs142225368 CA5228557 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs960669150 CA199534752 |
69 | F>I | No |
ClinGen TOPMed |
|
|
CA374803770 rs1166394839 |
71 | Q>H | No |
ClinGen gnomAD |
|
|
COSM3367541 rs750399527 CA5228556 |
71 | Q>P | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs765341761 CA374803761 |
72 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761831893 CA5228554 |
74 | T>R | No |
ClinGen ExAC TOPMed |
|
|
CA5228553 rs776865328 |
75 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs764273856 CA5228552 |
75 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376744911 CA5228551 |
77 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183320359 CA374803584 |
78 | E>A | No |
ClinGen gnomAD |
|
|
CA5228550 rs775903104 |
78 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5228546 rs147643312 |
82 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199534706 rs1011786080 |
82 | R>Q | No |
ClinGen TOPMed |
|
|
CA5228547 rs147643312 |
82 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374803432 rs1229592742 |
84 | M>V | No |
ClinGen TOPMed |
|
|
rs1346315719 CA374803371 |
86 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 87 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321300911 CA374803316 |
89 | K>R | No |
ClinGen gnomAD |
|
|
CA374803269 rs1256619713 |
92 | S>* | No |
ClinGen TOPMed |
|
|
rs746814945 CA5228542 |
93 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203554224 CA374803216 |
95 | C>Y | No |
ClinGen TOPMed |
|
|
CA5228539 rs750348131 COSM1624513 |
96 | R>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs113478749 CA199534665 |
97 | S>P | No |
ClinGen Ensembl |
|
|
rs765290467 CA5228538 |
98 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA374803081 rs1402240403 |
103 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588035374 CA374803005 |
108 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199534640 rs975933140 |
110 | D>A | No |
ClinGen Ensembl |
|
|
rs975933140 CA199534641 |
110 | D>G | No |
ClinGen Ensembl |
|
|
rs764377216 CA5228534 |
111 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1174751081 CA374802891 |
114 | K>N | No |
ClinGen TOPMed |
|
|
rs760868766 CA5228533 |
115 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA374802876 rs1473739825 |
115 | I>S | No |
ClinGen gnomAD |
|
|
CA5228532 rs775698700 |
116 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA5228531 rs369275022 |
117 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763427492 CA5228502 |
119 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199532648 rs141353870 |
119 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA5228501 rs756779592 |
120 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768011796 CA5228500 |
121 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1336881296 CA374801884 |
124 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760284998 CA199532629 |
126 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760284998 CA5228499 |
126 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199532618 rs948433160 |
128 | N>D | No |
ClinGen TOPMed |
|
|
rs775261843 CA5228498 |
129 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5228497 rs771893986 |
131 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771893986 CA374801831 |
131 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374801815 rs1301641549 |
133 | D>G | No |
ClinGen gnomAD |
|
|
CA199532588 rs895441368 |
135 | E>G | No |
ClinGen TOPMed |
|
|
rs375611102 CA5228494 |
139 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA199532537 rs536821125 |
141 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1418913938 COSM1219917 CA374801759 |
141 | R>Q | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA374801760 rs536821125 |
141 | R>W | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA5228493 rs749108331 |
142 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA374801740 rs1478334719 |
144 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs753559825 CA199532531 |
144 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753559825 CA374801738 |
144 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5228492 rs756094279 |
147 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA374801704 rs147830688 |
149 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5228490 rs149688506 |
149 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199532493 rs147830688 COSM3367540 |
149 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA199532483 rs992896754 |
150 | Q>R | No |
ClinGen Ensembl |
|
|
CA5228489 rs781359366 |
151 | Q>H | No |
ClinGen ExAC |
|
|
CA374801677 rs1305204743 |
153 | H>R | No |
ClinGen gnomAD |
|
|
CA5228487 rs139537562 |
154 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374801673 rs139537562 |
154 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281994417 CA374801655 |
156 | P>L | No |
ClinGen TOPMed gnomAD |
|
| rs1347726498 | 157 | Q>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5228485 rs763406601 |
159 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA199532424 rs960023448 |
160 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA199532423 rs924021402 |
160 | Q>R | No |
ClinGen TOPMed |
|
|
CA374801599 rs1218896588 |
164 | I>N | No |
ClinGen gnomAD |
|
|
CA374801600 rs1287711723 |
164 | I>V | No |
ClinGen TOPMed |
|
|
CA374801592 rs1334885071 |
165 | S>F | No |
ClinGen gnomAD |
|
|
CA374801588 rs1416294036 |
166 | S>G | No |
ClinGen gnomAD |
|
|
CA374801578 rs1362024228 |
167 | G>E | No |
ClinGen TOPMed |
|
|
rs750846814 CA199532407 |
169 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs750846814 CA5228484 |
169 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA374801561 rs1588034494 |
170 | F>V | No |
ClinGen Ensembl |
|
|
CA374801541 rs1216029274 |
172 | D>E | No |
ClinGen TOPMed |
|
|
CA374801534 rs1280936641 |
173 | M>I | No |
ClinGen TOPMed |
|
|
CA374801538 rs1174277663 |
173 | M>L | No |
ClinGen gnomAD |
|
|
CA5228483 rs765823932 |
174 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760233620 CA5228482 |
177 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 178 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4152036 rs1224449487 CA374801480 |
180 | S>N | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs748699646 CA5228480 |
181 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs748699646 CA5228481 |
181 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA374801461 rs770587268 |
183 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5228478 rs774062250 |
183 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1445708381 CA374801453 |
184 | M>I | No |
ClinGen TOPMed |
|
|
CA5228476 rs749127548 |
184 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199532302 rs1020422916 |
185 | V>F | No |
ClinGen gnomAD |
|
|
CA374801452 rs1020422916 |
185 | V>I | No |
ClinGen gnomAD |
|
|
rs1242839027 CA374801438 |
187 | I>V | No |
ClinGen TOPMed |
|
|
rs777546427 CA5228475 |
189 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA374801378 rs1290633652 |
195 | T>S | No |
ClinGen gnomAD |
|
|
rs1372849838 CA374801374 |
196 | E>K | No |
ClinGen gnomAD |
|
|
rs1428837109 CA374801364 |
197 | A>G | No |
ClinGen TOPMed |
|
|
rs1480002035 CA374801358 |
198 | M>T | No |
ClinGen TOPMed |
|
|
rs1285069906 CA374801360 |
198 | M>V | No |
ClinGen gnomAD |
|
|
CA199532265 rs964755066 |
200 | G>V | No |
ClinGen Ensembl |
|
|
CA199532258 rs866223881 |
202 | M>V | No |
ClinGen Ensembl |
|
|
CA374801318 rs1427186934 |
203 | I>M | No |
ClinGen TOPMed |
|
|
CA5228472 rs781306237 |
205 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA374801305 rs1334546687 |
205 | L>R | No |
ClinGen gnomAD |
|
|
COSM1472175 rs755064141 CA5228471 |
206 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5228469 rs375358955 |
207 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1417141338 CA374801267 |
211 | A>V | No |
ClinGen gnomAD |
|
|
rs1053794351 CA199532166 |
212 | V>L | No |
ClinGen Ensembl |
|
|
rs985293405 CA199532162 |
213 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1261697 rs1445860134 CA374801230 |
217 | V>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
VAR_050525 rs4466466 CA199532151 |
218 | K>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA374801204 rs1240750245 |
220 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1203546611 CA374801201 |
221 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1203546611 CA374801202 |
221 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5228465 rs367876908 |
224 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367876908 CA5228464 |
224 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374801176 rs1316770051 |
225 | S>T | No |
ClinGen gnomAD |
|
|
rs1223785003 CA374801167 |
226 | S>N | No |
ClinGen TOPMed |
|
|
CA199532103 rs1026860320 |
226 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374801128 rs1588034414 |
232 | A>T | No |
ClinGen Ensembl |
|
|
rs1043234018 CA199532092 |
235 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1043234018 CA199532094 |
235 | A>T | No |
ClinGen Ensembl |
|
|
rs1318865638 CA374801090 |
238 | I>M | No |
ClinGen TOPMed |
|
|
rs1314425193 CA374801085 |
239 | Y>C | No |
ClinGen gnomAD |
|
|
rs374168137 CA5228461 |
241 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365768055 CA374801055 |
243 | E>D | No |
ClinGen gnomAD |
|
|
rs1564267792 CA374801053 |
244 | L>V | No |
ClinGen Ensembl |
|
|
rs762626871 CA5228459 |
245 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374801031 rs1451354979 |
247 | N>S | No |
ClinGen gnomAD |
|
|
rs773128584 CA5228458 |
248 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528101355 CA5228457 |
250 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA374801012 rs1426204909 |
250 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs961345703 CA199532073 |
252 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374800969 rs1468381506 |
257 | D>N | No |
ClinGen TOPMed |
|
|
rs948485454 CA199532044 |
259 | F>L | No |
ClinGen Ensembl |
|
|
rs1264387120 CA374800926 |
263 | D>G | No |
ClinGen gnomAD |
|
|
rs548607299 CA5228453 |
263 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485736619 CA374800905 |
266 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374800907 rs1485736619 |
266 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA199531957 rs150508424 |
269 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1291338878 CA374800846 |
271 | F>I | No |
ClinGen gnomAD |
|
|
CA5228447 rs758711122 |
271 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1309408765 CA374800825 |
272 | G>A | No |
ClinGen gnomAD |
|
|
rs1380507553 CA374800777 |
275 | P>R | No |
ClinGen gnomAD |
|
|
CA5228445 rs779359405 |
278 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424959328 CA374800738 |
278 | E>K | No |
ClinGen TOPMed |
|
|
rs757697017 CA5228444 |
279 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA199531914 rs764724315 |
282 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs764724315 CA5228442 |
282 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754516672 CA5228441 |
283 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5228438 rs762726299 |
286 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA374800624 rs1427822305 |
286 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5228437 rs772754589 |
290 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142511594 CA5228435 |
291 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5228434 rs776527690 |
291 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1268442703 CA374800503 |
294 | E>D | No |
ClinGen gnomAD |
|
|
CA374800483 rs1243880809 |
296 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5228432 rs747053060 |
297 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA199531861 rs983128702 |
300 | I>K | No |
ClinGen Ensembl |
|
|
rs775694915 CA5228431 |
300 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA374800416 rs1226824328 |
301 | D>G | No |
ClinGen gnomAD |
No associated diseases with Q13371
1 regional properties for Q13371
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosducin, thioredoxin-like domain | 36 - 299 | IPR024253 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
| heterotrimeric G-protein complex assembly | The aggregation, arrangement and bonding together of a set of components to form a heterotrimeric G-protein complex. |
| positive regulation of smoothened signaling pathway | Any process that activates or increases the frequency, rate or extent of smoothened signaling. |
| regulation of G protein-coupled receptor signaling pathway | Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTLDDKLLG | EKLQYYYSSS | EDEDSDHEDK | DRGRCAPASS | SVPAEAELAG | EGISVNTGPK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVINDWRRFK | QLETEQREEQ | CREMERLIKK | LSMTCRSHLD | EEEEQQKQKD | LQEKISGKMT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKEFAIMNED | QDDEEFLQQY | RKQRMEEMRQ | QLHKGPQFKQ | VFEISSGEGF | LDMIDKEQKS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVIMVHIYED | GIPGTEAMNG | CMICLAAEYP | AVKFCKVKSS | VIGASSQFTR | NALPALLIYK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GGELIGNFVR | VTDQLGDDFF | AVDLEAFLQE | FGLLPEKEVL | VLTSVRNSAT | CHSEDSDLEI |
| D |