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 Q9UDX3

Entry ID Method Resolution Chain Position Source
4TLG X-ray 177 A A/B 1-406 PDB
AF-Q9UDX3-F1 Predicted AlphaFoldDB

378 variants for Q9UDX3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA411188465
rs753735197
2 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs9608956
CA10183069
VAR_024629
3 S>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10183067
rs750698533
4 R>Q No ClinGen
ExAC
CA10183065
rs776435869
CA10183064
6 G>R No ClinGen
ExAC
gnomAD
CA323194592
rs866178862
6 G>V No ClinGen
gnomAD
rs1458488141
CA411188362
7 D>N No ClinGen
TOPMed
gnomAD
CA411188359
rs1458488141
7 D>Y No ClinGen
TOPMed
gnomAD
rs1478667188
CA411188284
10 P>S No ClinGen
gnomAD
CA411188262
rs1313156105
11 Q>* No ClinGen
TOPMed
gnomAD
CA323194558
rs1055113710
11 Q>R No ClinGen
TOPMed
CA323194543
rs867356101
13 Q>K No ClinGen
Ensembl
CA411188112
rs1449445351
17 A>P No ClinGen
gnomAD
rs757014420
CA10183028
20 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs757014420
CA10183029
20 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411187216
rs1353183466
20 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs751744744
CA10183027
21 E>D No ClinGen
ExAC
gnomAD
CA411187172
rs1377792567
25 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 26 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10183024
rs148265305
29 I>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10183025
rs116656493
29 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10183026
rs116656493
29 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765357868
CA10183023
30 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1458308411
CA411187063
30 L>V No ClinGen
TOPMed
rs1386240926
CA411187047
31 P>S No ClinGen
TOPMed
CA411187013
rs1160158633
32 N>K No ClinGen
gnomAD
CA411187020
rs1358221221
32 N>S No ClinGen
gnomAD
rs1434088930
CA411186972
34 D>G No ClinGen
TOPMed
CA411186944
rs1439748227
35 D>V No ClinGen
gnomAD
rs373531991
CA10183021
37 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766667007
CA10183020
38 L>F No ClinGen
ExAC
gnomAD
CA10183019
rs143173846
38 L>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1488206259
CA411186809
40 R>C No ClinGen
gnomAD
CA411186801
rs768321574
40 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs768321574
CA10183017
40 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10183016
rs762501810
41 W>C No ClinGen
ExAC
gnomAD
CA411186782
rs1312045718
41 W>G No ClinGen
TOPMed
CA411186769
rs1322374970
41 W>L No ClinGen
TOPMed
CA10183015
rs775007023
43 R>* No ClinGen
ExAC
TOPMed
gnomAD
COSM1033296
CA10183014
rs769257410
43 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10182992
rs759076488
45 R>* No ClinGen
ExAC
gnomAD
rs759076488
CA411181745
45 R>G No ClinGen
ExAC
gnomAD
rs776503239
CA10182991
45 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA411181704
rs1415982185
46 N>T No ClinGen
gnomAD
rs1038696622
CA323190125
47 F>L No ClinGen
TOPMed
gnomAD
CA411181434
rs1253658527
53 E>D No ClinGen
gnomAD
rs771922845
CA10182987
53 E>K No ClinGen
ExAC
CA10182986
rs748392010
54 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA411181392
rs748392010
54 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA10182985
rs779259388
55 M>I No ClinGen
ExAC
gnomAD
CA411181372
rs1308773361
55 M>L No ClinGen
TOPMed
rs755175652
CA10182984
56 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs367862392
CA10182983
57 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM444867
CA10182982
rs780473734
57 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs753580604
CA10182934
59 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs765938609
CA10182933
60 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs755689813
CA10182932
61 E>K No ClinGen
ExAC
gnomAD
CA10182930
rs149120915
63 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10182931
rs757707441
63 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA323189961
rs867868520
67 D>G No ClinGen
Ensembl
CA10182929
rs761871379
67 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10182927
rs763965241
70 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA411180880
rs763965241
70 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs550650965
CA323189931
74 W>R No ClinGen
TOPMed
CA411180765
rs1422839171
75 Q>* No ClinGen
gnomAD
TCGA novel 75 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411180745
rs1168251381
76 P>S No ClinGen
gnomAD
rs202227787
CA10182925
77 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1569243547 77 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773690592
CA323189918
77 P>S No ClinGen
Ensembl
TCGA novel 79 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10182901
rs772436197
79 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA411180541
rs772436197
79 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA323189776
rs975564285
80 I>L No ClinGen
TOPMed
rs975564285
CA411180528
80 I>V No ClinGen
TOPMed
CA411180366
rs1376893619
83 Y>C No ClinGen
TOPMed
gnomAD
CA411180370
rs1376893619
83 Y>S No ClinGen
TOPMed
gnomAD
rs145663781
CA10182897
85 S>L Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10182894
rs368539183
86 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182895
rs368539183
86 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA323189754
rs1011206373
88 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1601847745
CA411180158
89 C>R No ClinGen
Ensembl
CA411180143
rs1441083647
89 C>Y No ClinGen
gnomAD
rs200916088
CA411180052
91 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10182891
rs146819813
91 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411180065
rs1436252357
91 Y>D No ClinGen
TOPMed
rs868396334
CA323189750
92 D>N No ClinGen
Ensembl
rs754750771
CA411179979
93 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA411179939
rs1225551398
94 E>G No ClinGen
gnomAD
CA411179948
rs1283887960
94 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA323189735
rs528348207
95 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA10182888
rs528348207
95 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA10182887
rs766552344
96 C>R No ClinGen
ExAC
gnomAD
rs1007181065
CA323189716
98 V>A No ClinGen
TOPMed
gnomAD
CA323189715
rs1007181065
98 V>G No ClinGen
TOPMed
gnomAD
CA411179809
rs1440065717
98 V>L No ClinGen
TOPMed
rs760788765
CA10182886
99 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10182884
rs767593600
101 N>S No ClinGen
ExAC
gnomAD
CA411179583
rs577477910
103 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs577477910
CA10182883
103 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs769201861
CA10182881
105 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA411179507
rs1259998227
106 L>F No ClinGen
gnomAD
CA411179480
rs746628646
107 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA10182877
rs746628646
COSM1225050
107 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs757861587
CA411179401
110 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA10182875
rs757861587
110 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs748091226
CA10182874
114 S>L No ClinGen
ExAC
gnomAD
rs1255327014
COSM1033295
CA411179297
116 S>F Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1289036557
CA411179261
118 Q>* No ClinGen
gnomAD
rs932990461
CA323189671
120 M>T No ClinGen
Ensembl
CA10182873
rs778815941
120 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs141056649
CA323189663
121 I>F No ClinGen
ESP
TOPMed
CA10182871
rs142968608
122 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77679347
CA10182872
122 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411179097
rs1399186429
123 K>R No ClinGen
gnomAD
rs9606739
CA10182870
124 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_051914
rs9606739
CA10182869
124 R>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs750590896
CA10182868
124 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1237072653
CA411179023
125 I>T No ClinGen
TOPMed
gnomAD
rs767506346
CA10182867
126 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1348741656
CA411178959
128 C>G No ClinGen
gnomAD
rs774789497
CA10182865
132 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA10182864
rs35032582
134 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA323221063
rs145035807
134 E>D No ClinGen
ESP
TOPMed
gnomAD
rs763461123
CA10182863
134 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs776023084
CA10182862
136 E>Q No ClinGen
ExAC
gnomAD
CA411199910
rs1188556838
137 L>M No ClinGen
TOPMed
gnomAD
rs1188556838
CA411199909
137 L>V No ClinGen
TOPMed
gnomAD
rs1274294586
CA411199900
138 Q>R No ClinGen
gnomAD
CA323221045
rs17670870
139 T>S No ClinGen
Ensembl
rs1328408341
CA411199864
141 K>N No ClinGen
TOPMed
gnomAD
rs768087720
CA10182837
142 L>R No ClinGen
ExAC
gnomAD
rs1395722135
CA411199792
145 K>R No ClinGen
gnomAD
CA10182834
rs202208921
147 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411199767
rs1385579258
147 E>D No ClinGen
TOPMed
CA411199774
rs202208921
147 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147383961
CA10182833
149 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182832
rs142766376
149 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411199741
rs1258580771
150 L>M No ClinGen
gnomAD
CA10182827
rs753318080
157 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA10182826
rs765740359
158 L>P No ClinGen
ExAC
gnomAD
TCGA novel 159 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305340955
CA411199630
159 S>R No ClinGen
TOPMed
rs1601846775
CA411199601
162 H>P No ClinGen
Ensembl
rs1309873144
CA411199579
164 W>S No ClinGen
gnomAD
CA411199542
rs1481604905
167 A>V No ClinGen
TOPMed
rs1392304890
CA411199526
169 E>A No ClinGen
gnomAD
CA10182824
rs754247839
169 E>D No ClinGen
ExAC
gnomAD
rs1311473446
CA411199520
170 V>F No ClinGen
gnomAD
rs1601846710
CA411199519
170 V>G No ClinGen
Ensembl
CA411199522
rs1311473446
170 V>I No ClinGen
gnomAD
rs1211714064
CA411199512
171 Y>C No ClinGen
TOPMed
rs1252258527
CA411199502
172 Q>* No ClinGen
TOPMed
CA10182809
rs547067828
174 F>I No ClinGen
1000Genomes
ExAC
gnomAD
rs547067828
CA10182810
174 F>V No ClinGen
1000Genomes
ExAC
gnomAD
rs755536919
CA10182808
175 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA10182806
rs766778067
177 I>M No ClinGen
ExAC
gnomAD
rs150573219
CA10182807
177 I>S No ClinGen
ESP
ExAC
gnomAD
CA323219892
rs976568802
179 E>A No ClinGen
TOPMed
CA10182804
rs751279311
179 E>K No ClinGen
ExAC
gnomAD
rs762499785
CA10182802
COSM725939
180 A>E lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10182803
rs762499785
180 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1314433897
CA411199344
182 Y>C No ClinGen
gnomAD
rs1440339707
CA411199330
183 P>L No ClinGen
gnomAD
rs1392200814
CA411199322
184 E>G No ClinGen
gnomAD
rs1601845803
CA411199293
187 K>T No ClinGen
Ensembl
rs759526206
CA10182799
188 N>D No ClinGen
ExAC
gnomAD
CA10182798
rs776377589
188 N>I No ClinGen
ExAC
CA411199259
rs1474861265
189 L>* No ClinGen
TOPMed
rs1476154794
CA411199266
189 L>I No ClinGen
gnomAD
CA10182797
rs770820775
190 I>V No ClinGen
ExAC
gnomAD
CA10182795
rs746799879
192 I>T No ClinGen
ExAC
gnomAD
COSM284849
CA323219848
rs141785416
193 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs772441064
CA10182794
193 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs772441064
CA10182793
193 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1469330494
CA411199191
194 A>T No ClinGen
gnomAD
rs1349862982
CA411198290
196 K>E No ClinGen
gnomAD
CA323218753
rs953843049
199 P>L No ClinGen
TOPMed
gnomAD
rs17738540
CA10182769
VAR_051915
200 V>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10182768
rs770308483
201 A>T No ClinGen
ExAC
gnomAD
rs1205761405
CA411198188
202 F>L No ClinGen
TOPMed
gnomAD
rs753320232
CA323218733
204 L>S No ClinGen
TOPMed
rs753320232
CA411198138
204 L>W No ClinGen
TOPMed
CA10182767
rs746336843
206 K>E No ClinGen
ExAC
TOPMed
gnomAD
COSM171583
CA10182766
rs145618105
207 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1157395326
CA411198078
208 F>L No ClinGen
gnomAD
CA411198067
rs1471447835
208 F>L No ClinGen
gnomAD
rs138852663
CA10182762
209 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182763
rs778430352
209 M>R No ClinGen
ExAC
gnomAD
rs778430352
CA10182764
209 M>T No ClinGen
ExAC
gnomAD
CA10182759
rs61744139
211 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_051916
rs17738527
CA10182760
211 E>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs144991281
COSM106746
CA323218654
212 E>K skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA10182758
rs376318758
213 T>I No ClinGen
ESP
ExAC
TOPMed
CA10182757
rs199853485
214 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199777878
COSM3390166
CA323218633
214 R>H pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs761507070
CA10182756
215 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10182755
rs774674443
215 R>K No ClinGen
ExAC
gnomAD
CA10182754
rs768737327
217 I>T No ClinGen
ExAC
gnomAD
CA411197966
rs1444214556
217 I>V No ClinGen
gnomAD
CA323218613
rs1015178939
218 V>M No ClinGen
Ensembl
CA10182737
rs373032648
225 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767531519
CA10182736
227 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA411197765
rs1422888884
229 T>I No ClinGen
gnomAD
CA411197722
rs1450240397
232 I>T No ClinGen
gnomAD
CA411197730
rs1178166693
232 I>V No ClinGen
TOPMed
gnomAD
rs1601842774
CA411197684
235 D>A No ClinGen
Ensembl
rs1601842780
CA411197686
235 D>Y No ClinGen
Ensembl
rs1284647262
CA411197671
236 Q>* No ClinGen
TOPMed
TCGA novel 237 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1203581076
CA411197636
239 V>L No ClinGen
gnomAD
CA411197608
rs1305373356
241 F>S No ClinGen
gnomAD
CA411197590
rs1206844430
242 G>E No ClinGen
TOPMed
CA411197596
rs1274767410
242 G>R No ClinGen
gnomAD
rs1369540956
CA411197580
243 G>E No ClinGen
gnomAD
CA411197560
rs1373858274
245 M>V No ClinGen
gnomAD
TCGA novel 246 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777166289
CA10182726
248 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs773449653
CA10182723
249 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs747507535
CA10182724
249 D>N No ClinGen
ExAC
gnomAD
CA10182722
rs369641628
252 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1171878671
CA411197461
252 P>S No ClinGen
gnomAD
rs779847306
CA10182721
256 T>I No ClinGen
ExAC
gnomAD
rs779847306
CA10182720
256 T>N No ClinGen
ExAC
gnomAD
rs1378125278 258 I>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA10182707
rs374774764
260 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773754494
CA10182705
261 G>E No ClinGen
ExAC
gnomAD
CA411197302
rs1374546275
263 E>K No ClinGen
gnomAD
CA411197285
rs1601842450
264 V>E No ClinGen
Ensembl
CA411197264
rs1308502540
266 K>Q No ClinGen
gnomAD
rs529136052
CA10182703
266 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA10182702
rs775330340
267 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10182701
rs139429739
269 Y>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139429739
CA10182700
269 Y>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411197203
rs61741444
271 C>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs540038842
CA10182699
271 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs563850172
CA10182697
272 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411197185
rs1355061769
274 V>M No ClinGen
gnomAD
CA323218111
rs575158416
277 Q>H No ClinGen
1000Genomes
gnomAD
rs531889100
CA10182696
277 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1179158831
CA411197160
278 Y>C No ClinGen
TOPMed
CA10182694
rs752470201
279 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs755193302
CA10182692
280 H>D No ClinGen
ExAC
gnomAD
CA411197148
rs755193302
280 H>Y No ClinGen
ExAC
gnomAD
rs367876819
CA10182690
281 T>M Variant assessed as Somatic; 0.000185 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10182691
rs367876819
281 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs750932309
CA10182688
282 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA10182686
rs371858918
284 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1485163772
CA411197096
285 G>S No ClinGen
gnomAD
rs774887890
CA10182685
286 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA323218054
rs1011388034
286 R>H No ClinGen
Ensembl
TCGA novel 287 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1334552416
CA411197077
287 G>S No ClinGen
TOPMed
gnomAD
rs759276473
CA10182682
288 S>F No ClinGen
ExAC
gnomAD
CA323218038
rs1055715342
289 S>T No ClinGen
gnomAD
CA411197011
rs1601842205
292 V>G No ClinGen
Ensembl
CA411197008
rs1197708504
293 E>K No ClinGen
TOPMed
CA411197006
rs1197708504
293 E>Q No ClinGen
TOPMed
rs746499914
CA10182679
294 N>S No ClinGen
ExAC
gnomAD
rs1460870230
CA411196979
295 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10182676
rs772023328
297 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA411196929
rs1372192008
299 P>A No ClinGen
TOPMed
gnomAD
rs754072544
CA10182672
299 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs754072544
CA10182674
299 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs754072544
CA10182673
299 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA411196927
rs1372192008
299 P>S No ClinGen
TOPMed
gnomAD
rs756196179
CA10182670
300 G>D No ClinGen
ExAC
gnomAD
CA411196883
rs1218483044
302 V>L No ClinGen
TOPMed
gnomAD
CA10182669
rs149720232
303 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10182668
rs767664665
304 R>M No ClinGen
ExAC
gnomAD
CA323217788
rs867694330
304 R>S No ClinGen
Ensembl
CA411196754
rs1422387695
305 W>* No ClinGen
TOPMed
CA10182645
rs765482631
305 W>C No ClinGen
ExAC
gnomAD
rs762501634
CA323217770
307 F>L No ClinGen
Ensembl
rs760384308
CA10182644
308 A>T No ClinGen
ExAC
gnomAD
rs1233721216
CA411196648
311 G>C No ClinGen
TOPMed
gnomAD
rs772722091
CA10182643
311 G>D No ClinGen
ExAC
gnomAD
rs1233721216
CA411196653
311 G>S No ClinGen
TOPMed
gnomAD
CA10182640
rs774319016
314 I>V No ClinGen
ExAC
gnomAD
CA10182638
rs372310044
315 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182637
rs372310044
315 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411224227
CA411196566
315 G>V No ClinGen
gnomAD
CA323217741
rs958901588
322 T>N No ClinGen
gnomAD
TCGA novel 323 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411196417
rs1432400528
324 M>I No ClinGen
gnomAD
CA411196411
rs1601841819
325 G>E No ClinGen
Ensembl
CA10182636
rs115178857
CA411196412
325 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1056003928
CA323217727
327 Q>* No ClinGen
TOPMed
gnomAD
rs1056003928
CA411196382
327 Q>E No ClinGen
TOPMed
gnomAD
rs746160644
CA10182635
327 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1393997850
CA411196354
328 Q>H No ClinGen
TOPMed
CA10182634
rs146280848
329 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA411196308
rs1196200770
331 R>K No ClinGen
gnomAD
rs1248328499
CA411196290
332 E>G No ClinGen
TOPMed
CA411196298
rs1360418409
332 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10182633
rs757455217
334 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777954140
CA10182631
335 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA323217677
rs745695548
336 V>M No ClinGen
Ensembl
CA10182630
rs758978373
337 L>P No ClinGen
ExAC
gnomAD
CA411196191
rs1244278688
338 P>S No ClinGen
TOPMed
rs199909190
CA10182627
341 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10182626
COSM3694013
rs368386943
341 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411196112
rs1292360815
342 Y>* No ClinGen
TOPMed
gnomAD
rs1350726122
CA411196128
342 Y>H No ClinGen
gnomAD
CA411196067
rs1412555615
345 H>Y No ClinGen
TOPMed
gnomAD
rs1399554380
CA411196059
346 M>V No ClinGen
TOPMed
rs773881704
CA411196035
348 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs773881704
CA10182623
348 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA411195964
rs1601841645
350 D>E No ClinGen
Ensembl
CA411195971
rs1569240401
350 D>V No ClinGen
Ensembl
rs867321945
CA323217627
351 G>R No ClinGen
gnomAD
TCGA novel 351 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867321945
CA411195958
351 G>W No ClinGen
gnomAD
rs1049141683
CA411195928
352 S>I No ClinGen
TOPMed
gnomAD
rs1049141683
CA323217623
352 S>N No ClinGen
TOPMed
gnomAD
rs762961704
CA10182621
352 S>R No ClinGen
ExAC
gnomAD
CA411195920
rs1231874348
352 S>R No ClinGen
TOPMed
gnomAD
CA411195900
rs1601841597
353 L>P No ClinGen
Ensembl
rs775276603
CA10182620
354 T>I No ClinGen
ExAC
gnomAD
CA411195892
rs1601841587
354 T>P No ClinGen
Ensembl
rs188527804
CA10182619
355 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1601841548
CA411195865
355 C>S No ClinGen
Ensembl
CA10182618
rs532977655
356 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs374331336
CA323217610
357 Q>R No ClinGen
Ensembl
rs771303466
CA10182616
359 G>D No ClinGen
ExAC
gnomAD
CA10182613
rs370511113
360 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182614
rs138793012
360 V>I Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201528567
CA10182568
361 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182567
rs201528567
361 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201528567
CA323216689
361 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1294522518
CA411194559
362 V>I No ClinGen
gnomAD
CA10182563
rs371346075
364 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144993910
CA10182562
364 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10182564
rs371346075
364 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1394386561
CA411194528
365 F>I No ClinGen
gnomAD
CA10182561
rs750192002
365 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA10182559
rs564814217
366 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA10182558
rs564814217
366 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA323216669
rs766006469
367 N>S No ClinGen
gnomAD
rs1556016202
CA411194477
369 Y>H No ClinGen
Ensembl
rs143756633
CA10182551
371 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369230865
CA10182552
371 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1047930808
CA323216616
372 M>R No ClinGen
Ensembl
CA411194421
rs1601839632
373 H>Y No ClinGen
Ensembl
rs1302385287
CA411194406
374 A>S No ClinGen
gnomAD
CA411194400
rs1223620038
374 A>V No ClinGen
gnomAD
CA10182549
rs148988804
375 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1190697060
CA411194387
375 K>N No ClinGen
TOPMed
rs1410676582
CA411194367
377 L>F No ClinGen
gnomAD
CA10182547
rs754598221
378 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10182546
rs748825329
379 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs920345988
CA323216584
380 T>A No ClinGen
Ensembl
CA10182545
rs575818753
380 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1158102754
CA411194308
381 V>A No ClinGen
gnomAD
rs756154375
CA10182544
382 E>* No ClinGen
ExAC
gnomAD
rs1293580145
CA411194284
383 V>L No ClinGen
TOPMed
gnomAD
CA411194246
rs1474695217
386 P>L No ClinGen
gnomAD
rs115546021
CA323216574
387 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs115546021
CA10182540
387 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10182538
rs372907232
389 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182537
rs372907232
389 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182539
rs372907232
389 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759980548
CA10182535
392 E>K No ClinGen
ExAC
gnomAD
CA10182534
rs368560771
393 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10182533
rs368560771
393 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411194188
rs1340117115
395 Q>H No ClinGen
gnomAD
rs1601839437
CA411194179
396 S>R No ClinGen
Ensembl
CA411194176
rs1203265700
397 L>F No ClinGen
TOPMed
CA10182531
rs773657589
397 L>H No ClinGen
ExAC
gnomAD
CA10182529
rs748911521
399 A>T No ClinGen
ExAC
gnomAD
CA10182528
rs148376799
399 A>V Variant assessed as Somatic; 0.0003239 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA323216476
rs987385398
400 M>L No ClinGen
gnomAD
rs745833384
CA10182526
400 M>T No ClinGen
ExAC
gnomAD
CA411194149
rs954707243
401 R>S No ClinGen
Ensembl
CA10182525
rs142649009
402 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA323216472
rs1053192751
403 S>F No ClinGen
TOPMed
CA10182524
rs757058239
404 P>Q No ClinGen
ExAC
gnomAD
rs753798129
CA10182523
405 T>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 405 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q9UDX3

3 regional properties for Q9UDX3

Type Name Position InterPro Accession
domain CRAL-TRIO lipid binding domain 76 - 249 IPR001251
domain GOLD domain 252 - 383 IPR009038
domain CRAL/TRIO, N-terminal domain 34 - 59 IPR011074

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name Definition
lipid binding Binding to a lipid.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

26 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5SYC1 CLVS2 Clavesin-2 Homo sapiens (Human) PR
Q9BTX7 TTPAL Alpha-tocopherol transfer protein-like Homo sapiens (Human) PR
Q8IUQ0 CLVS1 Clavesin-1 Homo sapiens (Human) PR
Q92503 SEC14L1 SEC14-like protein 1 Homo sapiens (Human) PR
B5MCN3 SEC14L6 Putative SEC14-like protein 6 Homo sapiens (Human) PR
Q8BG92 Clvs2 Clavesin-2 Mus musculus (Mouse) PR
Q9D4C9 Clvs1 Clavesin-1 Mus musculus (Mouse) PR
Q9D3D0 Ttpal Alpha-tocopherol transfer protein-like Mus musculus (Mouse) PR
Q8R0F9 Sec14l4 SEC14-like protein 4 Mus musculus (Mouse) PR
A6JFQ6 Clvs1 Clavesin-1 Rattus norvegicus (Rat) PR
A6JUQ6 Clvs2 Clavesin-2 Rattus norvegicus (Rat) PR
Q09270 C34C12.6 CRAL-TRIO domain-containing protein C34C12.6 Caenorhabditis elegans PR
Q8GXC6 SFH5 Phosphatidylinositol/phosphatidylcholine transfer protein SFH5 Arabidopsis thaliana (Mouse-ear cress) PR
F4IHJ0 SFH8 Phosphatidylinositol/phosphatidylcholine transfer protein SFH8 Arabidopsis thaliana (Mouse-ear cress) PR
Q93ZE9 SFH3 Phosphatidylinositol/phosphatidylcholine transfer protein SFH3 Arabidopsis thaliana (Mouse-ear cress) PR
F4JVA6 SFH6 Phosphatidylinositol/phosphatidylcholine transfer protein SFH6 Arabidopsis thaliana (Mouse-ear cress) PR
F4J7S8 SFH9 Phosphatidylinositol/phosphatidylcholine transfer protein SFH9 Arabidopsis thaliana (Mouse-ear cress) PR
Q56WK6 PATL1 Patellin-1 Arabidopsis thaliana (Mouse-ear cress) PR
Q56Z59 PATL3 Patellin-3 Arabidopsis thaliana (Mouse-ear cress) PR
Q56ZI2 PATL2 Patellin-2 Arabidopsis thaliana (Mouse-ear cress) PR
Q94A34 SFH12 Phosphatidylinositol/phosphatidylcholine transfer protein SFH12 Arabidopsis thaliana (Mouse-ear cress) PR
Q94C59 PATL4 Patellin-4 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M0R2 PATL5 Patellin-5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SI13 SFH10 Phosphatidylinositol/phosphatidylcholine transfer protein SFH10 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SIW3 SFH7 Phosphatidylinositol/phosphatidylcholine transfer protein SFH7 Arabidopsis thaliana (Mouse-ear cress) PR
Q5SPP0 clvs2 Clavesin-2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSSRVGDLSP QQQEALARFR ENLQDLLPIL PNADDYFLLR WLRARNFDLQ KSEDMLRRHM
70 80 90 100 110 120
EFRKQQDLDN IVTWQPPEVI QLYDSGGLCG YDYEGCPVYF NIIGSLDPKG LLLSASKQDM
130 140 150 160 170 180
IRKRIKVCEL LLHECELQTQ KLGRKIEMAL MVFDMEGLSL KHLWKPAVEV YQQFFSILEA
190 200 210 220 230 240
NYPETLKNLI VIRAPKLFPV AFNLVKSFMS EETRRKIVIL GDNWKQELTK FISPDQLPVE
250 260 270 280 290 300
FGGTMTDPDG NPKCLTKINY GGEVPKSYYL CEQVRLQYEH TRSVGRGSSL QVENEILFPG
310 320 330 340 350 360
CVLRWQFASD GGDIGFGVFL KTKMGEQQSA REMTEVLPSQ RYNAHMVPED GSLTCLQAGV
370 380 390 400
YVLRFDNTYS RMHAKKLSYT VEVLLPDKAS EETLQSLKAM RPSPTQ