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 Q9NUD7

Entry ID Method Resolution Chain Position Source
AF-Q9NUD7-F1 Predicted AlphaFoldDB

363 variants for Q9NUD7

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753272371
CA9721995
2 A>V No ClinGen
ExAC
gnomAD
TCGA novel 4 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238037682
CA407889381
4 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1451920429
CA407889328
5 L>* No ClinGen
gnomAD
TCGA novel 6 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755584717
CA9721993
6 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1220553942
CA407888156
8 P>S No ClinGen
gnomAD
CA407888114
rs1479851147
9 K>R No ClinGen
TOPMed
CA310630753
rs375975887
13 T>A No ClinGen
Ensembl
rs561439438
CA9721943
13 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA310630746
rs561439438
13 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA9721942
rs745370755
16 I>T No ClinGen
ExAC
gnomAD
CA407887842
rs1269018990
16 I>V No ClinGen
gnomAD
CA407887664
rs780910984
19 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA9721941
rs780910984
19 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA407887598
rs1600193146
20 F>C No ClinGen
Ensembl
CA407887588
rs1414518543
20 F>L No ClinGen
gnomAD
CA9721940
rs756843278
21 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA407887576
rs1600193130
21 Q>R No ClinGen
Ensembl
rs1415201130
CA407887517
23 P>L No ClinGen
gnomAD
CA9721924
rs746321638
24 D>G No ClinGen
ExAC
gnomAD
rs1258081046
CA407887145
31 S>P No ClinGen
gnomAD
rs770528771
CA9721922
32 K>E No ClinGen
ExAC
gnomAD
rs1323145659
CA407887102
32 K>T No ClinGen
Ensembl
CA407887047
rs1600192795
34 E>K No ClinGen
Ensembl
rs1600192789
CA407887029
35 T>P No ClinGen
Ensembl
CA9721921
rs372566973
38 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9721920
rs777448744
39 T>A No ClinGen
ExAC
gnomAD
CA407886936
rs777448744
39 T>P No ClinGen
ExAC
gnomAD
TCGA novel 42 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752522624
CA9721918
44 Q>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 45 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407886814
rs1307383173
45 Q>E No ClinGen
gnomAD
rs754772928
CA9721916
46 A>T No ClinGen
ExAC
gnomAD
rs1401139154
CA407886769
47 N>K No ClinGen
TOPMed
gnomAD
CA310630545
rs1004241442
49 L>F No ClinGen
TOPMed
CA9721914
rs766326969
51 T>A No ClinGen
ExAC
gnomAD
rs1166705386
CA407886685
51 T>K No ClinGen
TOPMed
gnomAD
CA407886684
rs1166705386
51 T>R No ClinGen
TOPMed
gnomAD
rs761859654
CA9721913
53 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 54 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9721911
rs375746621
57 L>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375746621
CA310630536
57 L>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1568494805
CA407886444
59 R>G No ClinGen
Ensembl
rs1160535333
CA407886419
60 V>I No ClinGen
TOPMed
rs114292813
CA407886388
61 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9721909
rs201857645
62 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376791854
CA9721884
64 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376791854
CA9721885
64 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1296163931
CA407902508
67 K>R No ClinGen
gnomAD
rs1299460867
CA407902496
68 P>A No ClinGen
TOPMed
COSM3963435
CA407902485
COSM3963434
rs1401580993
69 T>A lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA310628943
rs1012464000
69 T>I No ClinGen
Ensembl
COSM1130671
CA9721882
rs768337298
70 T>M Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA310628941
rs959900859
70 T>P No ClinGen
TOPMed
gnomAD
rs1464182102
CA407902411
74 S>I No ClinGen
TOPMed
gnomAD
rs1464182102
CA407902414
74 S>N No ClinGen
TOPMed
gnomAD
rs571813775
CA9721880
76 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9721879
rs755918979
76 Q>R No ClinGen
ExAC
gnomAD
rs372813606
CA9721878
77 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9721876
rs758364042
78 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs752858013
CA9721875
78 K>T No ClinGen
ExAC
rs1488834176
CA407902328
79 N>K No ClinGen
gnomAD
rs1003978704
CA310628923
79 N>S No ClinGen
TOPMed
CA407902311
rs1160397252
81 R>G No ClinGen
TOPMed
CA407902308
rs1414593100
81 R>T No ClinGen
TOPMed
CA407902298
rs1198950233
COSM1025440
82 E>* endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs779269360
CA9721874
82 E>G No ClinGen
ExAC
gnomAD
rs754123949
CA9721872
83 L>R No ClinGen
ExAC
gnomAD
CA9721873
rs755306700
83 L>V No ClinGen
ExAC
gnomAD
CA9721871
rs766782570
84 H>R No ClinGen
ExAC
gnomAD
rs750846591
CA9721869
87 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9721870
rs371871076
87 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761198522
CA9721867
92 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA9721866
rs773918581
93 K>R No ClinGen
ExAC
CA9721865
rs137926498
94 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407902087
rs762536700
95 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA9721864
rs762536700
95 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1265906849
CA407902033
97 K>N No ClinGen
gnomAD
COSM3939286
rs775131817
CA9721863
COSM3939287
99 W>* oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA9721862
rs769438414
100 L>F No ClinGen
ExAC
gnomAD
CA407901967
rs1290030556
101 M>R No ClinGen
TOPMed
CA407901034
rs764779901
103 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA9721826
rs764779901
103 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
CA310627391
rs1018640095
104 S>* No ClinGen
TOPMed
gnomAD
CA407901017
rs1453249841
105 L>F No ClinGen
gnomAD
CA407901019
rs1453249841
105 L>V No ClinGen
gnomAD
CA407901002
rs1269402981
106 R>M No ClinGen
gnomAD
CA407900983
rs1215596249
107 S>R No ClinGen
gnomAD
CA9721822
rs760568622
108 G>E No ClinGen
ExAC
gnomAD
rs766156164
CA9721824
CA9721823
108 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA407900973
rs760568622
108 G>V No ClinGen
ExAC
gnomAD
CA407900979
rs766156164
108 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA310627387
rs867228077
109 R>G No ClinGen
gnomAD
CA310627386
rs952711137
110 A>V No ClinGen
TOPMed
gnomAD
CA9721819
rs373695950
111 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867848473
CA310627383
111 A>S No ClinGen
Ensembl
rs769778652
CA9721817
113 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140397500
CA9721816
113 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140397500
CA407900924
113 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407900918
rs1568491732
114 E>Q No ClinGen
Ensembl
rs757571940
CA9721814
115 L>V No ClinGen
ExAC
gnomAD
CA407900891
rs1423234855
116 R>* No ClinGen
gnomAD
rs1174375989
CA407900887
116 R>P No ClinGen
gnomAD
rs532299971
CA9721812
117 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9721811
rs151192874
117 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151192874
CA9721810
117 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754475212
CA9721808
118 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754475212
CA407900865
118 R>L No ClinGen
ExAC
gnomAD
rs754475212
CA407900867
118 R>P No ClinGen
ExAC
gnomAD
CA9721809
rs540093816
118 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA407900857
rs1463778568
119 E>K No ClinGen
TOPMed
CA310627361
rs568029243
120 N>K No ClinGen
Ensembl
CA9721804
rs760513871
121 F>L No ClinGen
ExAC
gnomAD
rs753479250
CA9721805
121 F>Y No ClinGen
ExAC
gnomAD
rs1220434810
CA407900815
122 L>F No ClinGen
gnomAD
rs1220434810
CA407900816
122 L>V No ClinGen
gnomAD
CA9721801
rs773207477
123 S>G No ClinGen
ExAC
gnomAD
rs778816117
CA407900800
123 S>R No ClinGen
TOPMed
gnomAD
CA407900808
rs773207477
123 S>R No ClinGen
ExAC
gnomAD
rs1217286844
CA407900782
124 K>N No ClinGen
gnomAD
CA407900767
rs1396497640
125 L>R No ClinGen
TOPMed
rs1314675597
CA407900757
126 N>S No ClinGen
TOPMed
CA407900748
rs1413947915
127 R>Q No ClinGen
TOPMed
CA9721800
rs767548353
127 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9721799
rs761785476
128 E>D No ClinGen
ExAC
gnomAD
rs1568491669
CA407900717
129 L>R No ClinGen
Ensembl
CA9721795
rs370729462
130 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9721793
rs771185646
131 E>Q No ClinGen
ExAC
gnomAD
rs144826952
CA9721792
132 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA310627337
COSM1025415
rs947621657
133 I>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA407900663
rs1476759803
134 Q>K No ClinGen
gnomAD
rs1283102450
CA407900656
134 Q>R No ClinGen
TOPMed
CA9721788
rs779307758
136 M>I No ClinGen
ExAC
gnomAD
CA9721789
rs748646086
136 M>V No ClinGen
ExAC
gnomAD
rs1211753398
CA407900615
137 E>* No ClinGen
gnomAD
CA407900618
rs1211753398
137 E>Q No ClinGen
gnomAD
rs1600187245
CA407900557
140 T>K No ClinGen
Ensembl
CA9721785
rs779847571
141 T>S No ClinGen
ExAC
gnomAD
CA9721784
rs199683042
142 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA9721783
rs750115099
143 H>Q No ClinGen
ExAC
gnomAD
rs767355858
CA9721782
144 V>A No ClinGen
ExAC
gnomAD
rs901973553
CA310627322
COSM371394
144 V>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs901973553
CA407900515
144 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs761734222
CA9721781
145 R>Q No ClinGen
ExAC
gnomAD
CA310627319
rs1053044162
145 R>W No ClinGen
TOPMed
rs751467899
CA9721780
148 L>P No ClinGen
ExAC
rs1298560194
CA407900466
149 Q>* No ClinGen
TOPMed
rs1568491617
CA407900460
149 Q>L No ClinGen
Ensembl
CA407900462
rs1568491617
149 Q>R No ClinGen
Ensembl
CA9721778
rs146587791
150 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759632891
CA9721777
151 Q>* No ClinGen
ExAC
CA310627304
rs1019174508
152 D>E No ClinGen
Ensembl
rs776645140
CA9721775
152 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1176212512
CA407900414
153 T>N No ClinGen
gnomAD
CA407900421
rs1237094588
153 T>S No ClinGen
gnomAD
rs760817006
CA9721773
154 L>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 155 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407900395
rs1221409097
155 A>V No ClinGen
gnomAD
CA9721732
rs369933636
158 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777377372
CA9721733
158 I>V No ClinGen
ExAC
gnomAD
rs200900480
CA9721730
159 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9721729
rs750561764
160 I>F No ClinGen
ExAC
gnomAD
CA9721727
rs767775692
160 I>S No ClinGen
ExAC
rs750561764
CA9721728
160 I>V No ClinGen
ExAC
gnomAD
rs1486315111
CA407900204
161 L>S No ClinGen
gnomAD
CA407900193
rs1229087766
162 E>* No ClinGen
TOPMed
rs761874884
CA9721726
163 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA9721725
rs774646072
164 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA310627013
rs148500999
165 N>K No ClinGen
ESP
TOPMed
CA9721724
rs764316427
165 N>Y No ClinGen
ExAC
gnomAD
rs763404636
CA9721721
166 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1423692892
CA407900124
167 K>E No ClinGen
TOPMed
rs145711790
CA9721719
168 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 168 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1340308451
CA407900084
171 Q>* No ClinGen
gnomAD
rs1301799263
CA407900048
176 L>V No ClinGen
gnomAD
CA9721718
rs770469688
177 Q>* No ClinGen
ExAC
gnomAD
rs745354557
CA9721717
178 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs776343892
CA9721716
178 E>D No ClinGen
ExAC
gnomAD
rs745354557
CA310627004
178 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9721715
rs770475121
179 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1168415886
CA407899954
182 K>N No ClinGen
TOPMed
rs746597205
CA9721714
183 K>T No ClinGen
ExAC
gnomAD
CA9721711
rs747988519
185 C>* No ClinGen
ExAC
gnomAD
CA310626994
rs1019703714
186 K>R No ClinGen
TOPMed
rs1263758718
CA407899890
CA407899889
187 M>I No ClinGen
TOPMed
gnomAD
CA407899894
rs1462721128
187 M>T No ClinGen
gnomAD
CA9721684
rs777842535
190 L>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 190 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1390545330
CA407899310
191 E>K No ClinGen
gnomAD
CA407899309
rs1390545330
191 E>Q No ClinGen
gnomAD
COSM3707667
CA407899300
rs1161808328
COSM1615419
192 Q>* liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs758757282
CA9721683
193 Q>* No ClinGen
ExAC
gnomAD
rs1386056498
CA407899282
194 A>V No ClinGen
gnomAD
rs1343608409
CA407899272
196 Q>E No ClinGen
TOPMed
gnomAD
rs1343608409
CA407899273
196 Q>K No ClinGen
TOPMed
gnomAD
rs200957700
CA9721682
197 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1334847558
CA407899256
198 N>I No ClinGen
TOPMed
rs765635517
CA9721681
199 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs760014846
CA9721680
200 K>E No ClinGen
ExAC
gnomAD
rs112677690
CA9721679
201 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 202 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 202 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1299482222
CA407899219
204 T>P No ClinGen
TOPMed
CA9721677
rs150666895
205 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150666895
CA310626725
205 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772847665
CA9721676
205 Q>P No ClinGen
ExAC
gnomAD
CA407899212
rs772847665
205 Q>R No ClinGen
ExAC
gnomAD
CA407899207
rs771576019
206 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA9721675
rs771576019
206 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA310626724
rs144025240
209 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
rs774014341
CA9721673
210 F>V No ClinGen
ExAC
CA407899147
rs1280778101
212 S>N No ClinGen
gnomAD
CA407899139
rs1313640259
213 T>A No ClinGen
TOPMed
rs1568490417
CA407899129
214 Y>N No ClinGen
Ensembl
CA9721672
rs768398625
214 Y>S No ClinGen
ExAC
gnomAD
rs562179308
CA9721670
215 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs749120015
CA9721671
215 M>V No ClinGen
ExAC
gnomAD
TCGA novel 216 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310626716
rs893440987
217 H>N No ClinGen
Ensembl
rs747052756
CA9721668
217 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs777839051
CA9721667
218 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 221 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9721666
rs199526456
223 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA310626710
rs940892572
224 V>I No ClinGen
TOPMed
CA407898973
rs1485092665
225 Q>H No ClinGen
TOPMed
rs752932257
CA9721665
225 Q>R No ClinGen
ExAC
gnomAD
CA407898956
rs1568490388
226 I>M No ClinGen
Ensembl
rs1470501057
CA407898950
227 S>A No ClinGen
TOPMed
gnomAD
CA310626706
rs372622119
229 L>F No ClinGen
ESP
TOPMed
gnomAD
rs372622119
CA310626704
229 L>I No ClinGen
ESP
TOPMed
gnomAD
rs1490782944
CA407898915
230 M>T No ClinGen
TOPMed
gnomAD
rs147158424
CA9721663
231 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407898906
rs147158424
231 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766793783
CA9721661
231 R>H Variant assessed as Somatic; 0.0003235 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766793783
CA9721662
231 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1285800060
CA407898886
232 Q>H No ClinGen
gnomAD
rs750908008
CA9721659
233 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs368143993
CA9721658
238 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1281956554
CA407898786
240 Q>* No ClinGen
gnomAD
CA9721657
rs761344398
240 Q>L No ClinGen
ExAC
gnomAD
rs761344398
CA310626695
240 Q>R No ClinGen
ExAC
gnomAD
rs1380758903
CA407898723
242 D>N No ClinGen
gnomAD
rs751126025
CA9721637
244 L>P No ClinGen
ExAC
gnomAD
CA407898660
rs1470941369
246 D>V No ClinGen
gnomAD
rs1169602554
CA407898654
247 L>V No ClinGen
gnomAD
rs762597351
CA9721635
248 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1186749529
CA407898630
249 E>Q No ClinGen
gnomAD
rs775014541
CA9721634
250 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1240794364
CA407898611
250 M>R No ClinGen
gnomAD
CA9721633
COSM3423556
COSM3423555
rs573549117
251 R>C large_intestine Variant assessed as Somatic; 9.27e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs573549117
CA9721632
251 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs550866771
CA9721631
251 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs550866771
CA9721630
251 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748236997
CA9721629
253 K>R No ClinGen
ExAC
gnomAD
TCGA novel 253 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407898550
rs1309635540
255 L>V No ClinGen
gnomAD
rs774507819
CA9721628
257 S>F No ClinGen
ExAC
gnomAD
CA9721627
rs143525888
259 S>T No ClinGen
ESP
ExAC
gnomAD
CA407898485
rs1317297398
260 D>N No ClinGen
gnomAD
rs1317297398
CA407898483
260 D>Y No ClinGen
gnomAD
CA407898444
rs1555770295
262 I>M No ClinGen
1000Genomes
CA9721625
rs373753442
263 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
rs746279889
CA9721622
263 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA407898442
rs373753442
263 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
CA9721623
rs756469578
263 Q>R No ClinGen
ExAC
gnomAD
CA310626642
rs530605323
265 K>N No ClinGen
gnomAD
rs781654102
CA9721621
266 K>N No ClinGen
ExAC
gnomAD
TCGA novel 267 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs6046368
CA9721617
268 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA310626636
rs747835513
268 K>R No ClinGen
ExAC
gnomAD
CA9721618
rs747835513
268 K>T No ClinGen
ExAC
gnomAD
CA407898327
rs763534240
269 I>F No ClinGen
ExAC
gnomAD
CA407898303
rs1165044301
269 I>M No ClinGen
gnomAD
TCGA novel 269 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757865035
CA9721615
269 I>T No ClinGen
ExAC
rs763534240
CA9721616
269 I>V No ClinGen
ExAC
gnomAD
rs752350964
CA9721613
270 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1444741822
CA407898295
270 L>V No ClinGen
gnomAD
CA407898251
rs1387719174
272 S>Y No ClinGen
TOPMed
gnomAD
CA9721611
rs759366822
275 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs759366822
CA9721612
275 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769920971
CA9721587
277 T>I No ClinGen
ExAC
gnomAD
CA9721586
rs769920971
COSM576882
277 T>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA407898055
rs1568490132
278 Q>P No ClinGen
Ensembl
CA9721584
rs113722416
279 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771240781
CA9721583
279 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9721582
rs771240781
279 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9721581
rs747411459
281 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA407898007
rs1286716053
282 E>K No ClinGen
gnomAD
TCGA novel 283 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407897992
rs1454913634
283 E>K No ClinGen
gnomAD
CA407897930
rs1177906608
286 L>P No ClinGen
TOPMed
rs778334608
CA9721580
287 Q>R No ClinGen
ExAC
gnomAD
rs989299616
CA310626548
288 K>M No ClinGen
Ensembl
CA9721579
rs772525783
288 K>Q No ClinGen
ExAC
gnomAD
CA9721577
rs778232002
289 M>I No ClinGen
ExAC
rs748695512
CA9721578
289 M>T No ClinGen
ExAC
gnomAD
rs1468637166
CA407897858
290 W>R No ClinGen
TOPMed
CA407897804
rs1428183690
293 Q>R No ClinGen
gnomAD
CA9721576
rs754559449
295 F>L No ClinGen
ExAC
gnomAD
CA9721574
rs779892545
297 K>R No ClinGen
ExAC
gnomAD
rs767485299
CA9721571
299 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA9721572
rs750242886
299 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs757074568
CA9721570
301 R>K No ClinGen
ExAC
gnomAD
CA310626532
rs1002362911
301 R>S No ClinGen
TOPMed
CA407897682
rs1325587181
302 F>L No ClinGen
gnomAD
CA9721567
rs541368648
304 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9721568
rs138663865
304 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9721542
VAR_056847
rs3827147
305 I>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1301529281
CA407897553
305 I>T No ClinGen
gnomAD
rs3827147
CA407897555
305 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769346598
CA9721541
306 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1426782151
CA407897545
306 I>V No ClinGen
gnomAD
CA310626328
rs745877230
310 E>A No ClinGen
Ensembl
rs1158046263
CA407897474
310 E>D No ClinGen
gnomAD
rs570488394
CA9721539
313 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA407897424
rs1183841698
313 M>R No ClinGen
gnomAD
rs1362023905
CA407897433
313 M>V No ClinGen
gnomAD
CA310626324
rs941900711
314 P>R No ClinGen
TOPMed
gnomAD
rs1267837355
CA407897414
314 P>S No ClinGen
gnomAD
rs745458252
CA9721537
318 A>V No ClinGen
ExAC
gnomAD
CA9721535
COSM1025398
rs756968503
319 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407897305
rs1281771125
322 E>V No ClinGen
TOPMed
rs746867839
CA9721534
323 L>F No ClinGen
ExAC
gnomAD
rs1371873348
CA407897288
323 L>R No ClinGen
TOPMed
CA407897272
rs1568489800
325 A>S No ClinGen
Ensembl
CA407897266
rs1281755664
325 A>V No ClinGen
gnomAD
CA407897250
rs1316211767
326 Q>L No ClinGen
TOPMed
rs367958111
CA407897226
328 R>L No ClinGen
gnomAD
rs367958111
CA310626313
328 R>Q No ClinGen
gnomAD
CA9721531
rs201883976
328 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1399051778
CA407897224
329 E>K No ClinGen
gnomAD
rs756250702
CA9721529
330 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA9721530
rs756250702
330 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA9721528
rs202179540
331 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA407897199
rs202179540
331 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA407897195
rs1457701977
331 R>Q No ClinGen
TOPMed
gnomAD
rs1568489753
CA407897176
333 V>I No ClinGen
Ensembl
CA407896671
rs1196975549
334 I>M No ClinGen
gnomAD
CA9721527
rs754072214
334 I>V No ClinGen
ExAC
gnomAD
rs762073039
CA9721526
335 F>C No ClinGen
ExAC
rs752035358
CA9721525
337 D>Y No ClinGen
ExAC
gnomAD
rs964337705
CA310626299
338 V>A No ClinGen
TOPMed
rs1280886882
CA407896629
338 V>I No ClinGen
gnomAD
rs764556586
CA9721524
341 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1025397
COSM3840626
rs1246943904
CA407896590
341 R>W Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA9721522
rs113419123
342 R>I No ClinGen
1000Genomes
ExAC
gnomAD
CA407896561
rs1209964876
342 R>S No ClinGen
gnomAD
CA310626293
rs987070571
343 P>L No ClinGen
Ensembl
CA407895149
rs1359586554
CA407895148
344 K>N No ClinGen
gnomAD
CA9721501
rs758952270
349 M>I No ClinGen
ExAC
gnomAD
rs765819879
CA407895020
349 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs765819879
CA9721502
349 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA9721500
rs776142813
352 I>V No ClinGen
ExAC
gnomAD
rs140504163
CA9721499
353 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866315273
CA310624368
354 N>K No ClinGen
Ensembl
CA407894877
rs1202832925
354 N>S No ClinGen
TOPMed
gnomAD
rs946062240
CA310624367
356 P>A No ClinGen
TOPMed
gnomAD
rs1275634851
CA407894773
358 E>A No ClinGen
gnomAD
CA407894660
rs1288348557
362 P>R No ClinGen
TOPMed

No associated diseases with Q9NUD7

No regional properties for Q9NUD7

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9NUD7

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

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
MAHVLQKPKH SGTHSIVQEF QVPDYVPWQQ SKQETKPSTL PPVQQANSLH TSKMKTLTRV
70 80 90 100 110 120
QPVFHFKPTT VVTSCQPKNP RELHRRRKLD PGKMHAKIWL MKTSLRSGRA ALRELRSREN
130 140 150 160 170 180
FLSKLNRELI ETIQEMENST TLHVRALLQQ QDTLATIIDI LEYSNKKRLQ QLKSELQEWE
190 200 210 220 230 240
EKKKCKMSYL EQQAEQLNAK IEKTQEEVNF LSTYMDHEYS IKSVQISTLM RQLQQVKDSQ
250 260 270 280 290 300
QDELDDLGEM RRKVLESLSD KIQKKKKKIL SSVVAETQRP YEEALLQKMW ESQDFLKCMQ
310 320 330 340 350 360
RFREIIDQFE ENMPVLRAEV EELQAQTREP REVIFEDVLL RRPKCTPDMD VILNIPVEEP
LPF