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 Q9NQZ5

Entry ID Method Resolution Chain Position Source
AF-Q9NQZ5-F1 Predicted AlphaFoldDB

337 variants for Q9NQZ5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs941229827
CA52381208
2 L>P No ClinGen
TOPMed
rs755043599
CA52381210
2 L>V No ClinGen
Ensembl
rs1429338289
CA347643384
3 P>L No ClinGen
gnomAD
CA347643373
rs1573950118
4 R>Q No ClinGen
Ensembl
rs1337801102
CA347643376
4 R>W No ClinGen
gnomAD
CA347643359
rs1273708351
6 L>P No ClinGen
TOPMed
rs984791705
CA52381188
7 L>P No ClinGen
Ensembl
rs909829606
CA52381201
7 L>V No ClinGen
Ensembl
rs1415353059
CA347643352
8 A>S No ClinGen
gnomAD
CA347643346
rs1211767993
8 A>V No ClinGen
TOPMed
rs769162359
CA1777152
9 A>P No ClinGen
ExAC
TOPMed
rs769162359
CA347643342
9 A>T No ClinGen
ExAC
TOPMed
CA1777150
rs200913103
10 W>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs992620110
CA52381159
12 A>P No ClinGen
TOPMed
gnomAD
rs992620110
CA347643300
12 A>T No ClinGen
TOPMed
gnomAD
CA347643280
rs1259739039
13 G>A No ClinGen
gnomAD
rs1476848940
CA347643286
13 G>R No ClinGen
gnomAD
rs1553433177
CA347643269
14 T>K No ClinGen
Ensembl
rs1553433177
CA347643267
14 T>R No ClinGen
Ensembl
CA347643274
rs1408067953
14 T>S No ClinGen
TOPMed
gnomAD
rs1188799731
CA347643259
15 R>Q No ClinGen
gnomAD
CA1777148
rs746814222
16 G>A No ClinGen
ExAC
gnomAD
rs955275229
CA52381143
16 G>S No ClinGen
TOPMed
rs999675309
CA347643233
17 G>E No ClinGen
TOPMed
rs1031106814
CA347643236
17 G>R No ClinGen
gnomAD
rs999675309
CA52381123
17 G>V No ClinGen
TOPMed
CA52381131
rs1031106814
17 G>W No ClinGen
gnomAD
CA347643224
rs1465900421
18 G>C No ClinGen
TOPMed
gnomAD
rs1273202753
CA347643220
18 G>D No ClinGen
gnomAD
CA347643226
rs1465900421
18 G>R No ClinGen
TOPMed
gnomAD
rs748351378
CA1777144
20 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA347643185
rs1354724716
21 A>G No ClinGen
TOPMed
gnomAD
CA1777143
rs755001755
21 A>S No ClinGen
ExAC
gnomAD
rs755001755
CA1777142
21 A>T No ClinGen
ExAC
gnomAD
rs1179213657
CA347643171
22 L>R No ClinGen
gnomAD
CA347643161
rs1470553965
23 L>P No ClinGen
gnomAD
rs780433203
CA1777140
24 A>G No ClinGen
ExAC
gnomAD
rs1484987144
CA347643154
24 A>P No ClinGen
TOPMed
CA347643119
rs1258228355
26 Q>H No ClinGen
TOPMed
CA1777138
rs201289448
26 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA52381075
rs988324879
27 C>F No ClinGen
TOPMed
TCGA novel 27 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs988324879
CA347643114
27 C>Y No ClinGen
TOPMed
rs1186405547
CA347643108
28 R>C No ClinGen
TOPMed
CA347643107
rs1420358503
28 R>H No ClinGen
gnomAD
CA347643106
rs1420358503
28 R>L No ClinGen
gnomAD
rs767834090
CA1777137
29 F>L No ClinGen
ExAC
gnomAD
rs1412178891
CA347643098
29 F>L No ClinGen
TOPMed
gnomAD
CA347643101
rs1474961183
29 F>S No ClinGen
gnomAD
TCGA novel 30 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs889415053
CA347643088
31 T>K No ClinGen
gnomAD
rs889415053
CA52381073
31 T>M No ClinGen
gnomAD
CA347643084
rs1573949926
32 G>C No ClinGen
Ensembl
CA1777136
rs762640108
32 G>V No ClinGen
ExAC
gnomAD
CA347643081
rs1031820620
33 L>M No ClinGen
TOPMed
gnomAD
CA347643068
rs1252288620
35 V>A No ClinGen
gnomAD
CA1777132
rs776148826
CA1777133
35 V>L No ClinGen
ExAC
gnomAD
rs770797331
CA1777131
36 R>W No ClinGen
ExAC
gnomAD
rs760650619
CA1777130
37 R>G No ClinGen
ExAC
gnomAD
CA1777129
rs773182899
38 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1777128
rs748441449
39 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA1777127
rs748441449
39 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1278713578
CA347643046
40 Q>* No ClinGen
gnomAD
rs774434882
CA1777126
40 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs768859533
CA347643033
41 I>M No ClinGen
ExAC
gnomAD
CA347643031
rs1374032461
42 A>P No ClinGen
TOPMed
CA1777124
rs369373844
43 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1304546530
CA347643017
44 L>F No ClinGen
TOPMed
rs1161858681
CA347643007
45 Y>* No ClinGen
TOPMed
gnomAD
TCGA novel 45 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756650553
CA347643004
46 G>C No ClinGen
ExAC
gnomAD
CA1777121
rs756650553
46 G>S No ClinGen
ExAC
gnomAD
rs746349285
CA1777120
47 R>C No ClinGen
ExAC
gnomAD
CA1777119
rs781592450
47 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs746349285
CA347642999
47 R>S No ClinGen
ExAC
gnomAD
rs933705162
CA52380882
48 L>F No ClinGen
TOPMed
gnomAD
rs933705162
CA347642995
48 L>V No ClinGen
TOPMed
gnomAD
rs757612615
CA1777118
49 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1487845912
CA347642990
49 Y>H No ClinGen
gnomAD
rs764810546
CA1777116
50 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA347642975
rs1441305286
51 E>D No ClinGen
TOPMed
TCGA novel 51 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA52380790
rs753321107
51 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1777114
rs753321107
51 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA347642970
rs1558739101
52 S>N No ClinGen
Ensembl
CA347642967
rs375475304
CA1777113
52 S>R No ClinGen
ESP
ExAC
TOPMed
CA52380781
rs941198705
53 S>* No ClinGen
Ensembl
rs773271351
CA347642958
54 R>H No ClinGen
ExAC
gnomAD
rs773271351
CA1777111
54 R>P No ClinGen
ExAC
gnomAD
rs767489044
CA1777110
55 R>C No ClinGen
ExAC
gnomAD
rs767489044
CA347642955
55 R>G No ClinGen
ExAC
gnomAD
rs375153536
CA1777109
55 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1290690429
CA347642951
56 V>I No ClinGen
gnomAD
rs1345113584
CA347642939
58 L>V No ClinGen
gnomAD
CA347642933
rs1436909374
59 G>R No ClinGen
gnomAD
rs775814267
CA1777105
60 R>L No ClinGen
ExAC
gnomAD
rs770302206
CA1777104
61 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs770302206
CA347642520
61 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 62 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347642487
rs1377447530
62 W>C No ClinGen
TOPMed
gnomAD
rs1485910267
CA347642481
63 R>C No ClinGen
gnomAD
CA347642476
rs1339167636
63 R>P No ClinGen
TOPMed
gnomAD
rs757387212
CA1777100
64 R>G No ClinGen
ExAC
gnomAD
CA1777098
rs11539222
64 R>P No ClinGen
1000Genomes
ESP
TOPMed
rs778095890
CA1777097
66 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA347642436
rs1232329201
66 H>R No ClinGen
gnomAD
CA347642441
rs1194697594
66 H>Y No ClinGen
TOPMed
rs554052175
CA1777095
67 G>C No ClinGen
1000Genomes
ExAC
gnomAD
CA1777093
rs766358681
68 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA347642410
rs756123503
68 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1777092
rs756123503
68 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs766358681
CA347642416
68 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs145045733
CA1777090
69 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145045733
CA1777091
69 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA347642384
rs1573949618
70 G>V No ClinGen
Ensembl
rs773839860
CA1777088
71 H>Q No ClinGen
ExAC
CA1777089
rs761430971
71 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs763832768
CA1777087
72 A>T No ClinGen
ExAC
gnomAD
rs1375500267
CA347642361
72 A>V No ClinGen
TOPMed
gnomAD
CA347642344
rs1261871251
74 A>G No ClinGen
TOPMed
gnomAD
CA1777086
rs575047234
74 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA1777085
rs575047234
74 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA347642340
rs1261871251
74 A>V No ClinGen
TOPMed
gnomAD
rs1486600752
CA347642316
76 M>T No ClinGen
TOPMed
gnomAD
rs1258211734
CA347642294
78 A>P No ClinGen
gnomAD
rs1199660666
CA347642287
78 A>V No ClinGen
gnomAD
rs1253235783
CA347642260
80 A>V No ClinGen
gnomAD
CA1777083
rs770212436
83 F>Y No ClinGen
ExAC
gnomAD
rs992193468
CA52380621
84 V>L No ClinGen
TOPMed
gnomAD
CA347642197
rs1272162335
85 W>C No ClinGen
TOPMed
rs1276352294
CA347642207
85 W>G No ClinGen
gnomAD
rs1235277997
CA347642180
86 D>E No ClinGen
TOPMed
gnomAD
rs1214129859
CA347642176
87 E>K No ClinGen
TOPMed
rs1356655624
CA347642158
88 E>* No ClinGen
gnomAD
CA347642157
rs1573949554
88 E>G No ClinGen
Ensembl
rs866418925
CA52380615
89 R>G No ClinGen
Ensembl
rs1337520039
CA347642119
91 Q>* No ClinGen
TOPMed
CA347642104
rs1214895693
92 E>K No ClinGen
TOPMed
CA347642003
rs1394591610
96 Q>E No ClinGen
gnomAD
TCGA novel 98 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs970065647
CA52408224
99 I>V No ClinGen
TOPMed
gnomAD
CA1777054
rs374141714
100 N>S No ClinGen
ESP
ExAC
gnomAD
rs1353450405
CA347655576
101 E>K No ClinGen
gnomAD
CA347655546
rs1261897304
102 M>T No ClinGen
gnomAD
CA347655498
rs1244137302
104 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA1777053
rs769676604
104 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA347655426
rs1306572301
107 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 108 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1777052
rs200122639
108 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA1777051
rs781221907
110 N>D No ClinGen
ExAC
gnomAD
CA52408212
rs989128326
111 M>I No ClinGen
TOPMed
CA1777050
rs757227217
111 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA1777048
rs777325321
113 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA1777049
rs751521477
113 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs550294070
CA1777047
118 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs764901570
CA1777045
120 H>Y No ClinGen
ExAC
gnomAD
CA1777044
rs200880792
121 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA347655062
rs1364856580
122 P>L No ClinGen
TOPMed
gnomAD
CA1777043
rs754214358
123 E>Q No ClinGen
ExAC
gnomAD
CA347655044
rs1319167523
124 P>S No ClinGen
gnomAD
TCGA novel 126 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs570567602
CA347654985
CA1777040
127 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1573942429
CA347654988
127 Q>P No ClinGen
Ensembl
CA347654943
rs1448824044
130 G>E No ClinGen
gnomAD
rs558165041
CA52408133
130 G>R No ClinGen
Ensembl
rs762020485
CA1777038
131 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA347654922
rs1386513888
131 N>S No ClinGen
gnomAD
CA1777037
rs774671221
134 S>T No ClinGen
ExAC
gnomAD
rs769017540
CA1777036
136 G>D No ClinGen
ExAC
gnomAD
CA347654834
rs1235539046
136 G>S No ClinGen
gnomAD
rs141619739
CA52408123
137 K>E No ClinGen
ESP
rs1573942393
CA347654774
138 E>G No ClinGen
Ensembl
rs745594929
CA1777035
138 E>Q No ClinGen
ExAC
CA347654759
rs1289002766
139 Q>* No ClinGen
gnomAD
rs373055559
CA1777034
139 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1777033
COSM3426765
rs181733184
140 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347654732
rs2276650
140 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1777032
rs2276650
VAR_020345
140 R>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA52408110
rs181733184
140 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA347654659
rs1358599663
144 V>L No ClinGen
gnomAD
TCGA novel 147 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771200537
CA52408078
149 H>R No ClinGen
TOPMed
gnomAD
rs1171054502
CA347654436
151 K>N No ClinGen
gnomAD
CA347654441
rs1424647538
151 K>R No ClinGen
gnomAD
rs754628120
COSM1196655
CA1777027
154 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA347654365
rs754628120
154 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1193093626
CA347654370
154 R>W No ClinGen
gnomAD
CA1777026
rs753553383
155 R>C No ClinGen
ExAC
gnomAD
rs561682205
COSM1023853
CA1777025
155 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs149097861
CA1777024
COSM443383
156 P>S Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs767936137
CA1777022
157 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA347654289
rs1341083499
158 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA347654253
rs1278250362
158 T>I No ClinGen
gnomAD
CA347654248
rs1209356910
159 G>S No ClinGen
gnomAD
rs1338326784
CA347654204
160 T>I No ClinGen
gnomAD
CA347654175
rs1358388272
162 L>V No ClinGen
gnomAD
rs774581450
CA1777020
163 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA52408048
rs1027139678
164 Q>L No ClinGen
TOPMed
gnomAD
rs1424670070
CA347654104
165 Y>H No ClinGen
gnomAD
CA347654085
rs1573942295
166 R>Q No ClinGen
Ensembl
rs764339918
CA1777019
167 V>F No ClinGen
ExAC
gnomAD
rs757838003
CA1777004
170 T>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 172 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs901830366
CA52407821
173 D>V No ClinGen
Ensembl
CA1777002
rs764248203
176 P>A No ClinGen
ExAC
gnomAD
rs200450259
CA347653816
177 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs200450259
CA347653818
177 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA1777000
rs200450259
177 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs369340448
CA1777001
177 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1776999
rs765401746
181 N>D No ClinGen
ExAC
gnomAD
rs150385509
CA1776998
181 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 183 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347653105
rs1261144366
187 E>G No ClinGen
TOPMed
rs146539240
CA52406914
188 Y>C No ClinGen
ESP
TOPMed
gnomAD
CA347653091
rs1558734624
188 Y>H No ClinGen
Ensembl
TCGA novel 191 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1419003364
CA347653022
191 K>R No ClinGen
TOPMed
rs763770998
CA52406892
198 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 200 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372858958
CA1776976
200 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1776972
rs768599369
208 S>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 208 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1776971
rs762462471
208 S>T No ClinGen
ExAC
rs1296893030
CA347652725
209 G>D No ClinGen
gnomAD
CA347652654
rs1222182169
214 H>Y No ClinGen
TOPMed
gnomAD
rs1302673373
CA347652607
217 T>I No ClinGen
gnomAD
CA1776968
rs368142186
218 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1029515133
CA52406718
221 Y>C No ClinGen
TOPMed
rs1436103253
CA347652493
222 P>A No ClinGen
TOPMed
rs764625182
CA1776950
222 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1186578722
CA347652473
223 M>I No ClinGen
gnomAD
rs1374702843
CA347652482
223 M>V No ClinGen
TOPMed
rs1240197834
CA347652446
226 R>Q No ClinGen
TOPMed
gnomAD
rs569009343
CA1776948
226 R>W No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 228 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1776947
rs770721007
229 V>L No ClinGen
ExAC
gnomAD
rs144418439
COSM1227750
CA52406701
232 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
gnomAD
CA347652368
rs1211771618
233 R>Q No ClinGen
TOPMed
gnomAD
rs747311185
CA1776946
233 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA347652354
rs1265371387
234 Y>C No ClinGen
gnomAD
rs200306093
CA52406694
235 S>G No ClinGen
TOPMed
rs763820103
CA52406680
235 S>N No ClinGen
gnomAD
CA1776944
rs772545183
235 S>R No ClinGen
ExAC
gnomAD
rs763820103
CA347652336
235 S>T No ClinGen
gnomAD
rs148778899
CA52406669
242 M>V No ClinGen
ESP
TOPMed
gnomAD
CA52406663
rs187160371
CA52406666
243 M>I No ClinGen
1000Genomes
TOPMed
CA347652208
rs1375758505
243 M>L No ClinGen
TOPMed
gnomAD
CA347652205
rs1375758505
243 M>V No ClinGen
TOPMed
gnomAD
CA347652189
rs748579701
244 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs748579701
CA1776943
244 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA52406662
rs945442997
245 L>V No ClinGen
Ensembl
CA1776942
rs779513973
COSM1023847
247 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 248 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347652097
rs1162603886
248 R>H No ClinGen
gnomAD
rs1002670848
CA52406358
251 E>* No ClinGen
Ensembl
TCGA novel 251 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1281865022
CA347651758
253 P>L No ClinGen
TOPMed
CA52406355
rs907045436
253 P>T No ClinGen
Ensembl
rs774669103
CA1776923
255 V>M No ClinGen
ExAC
gnomAD
rs769915830
CA1776919
261 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs746062359
CA1776917
262 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 263 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1223643967
CA347651406
265 R>G No ClinGen
TOPMed
gnomAD
CA347651383
rs1216266195
266 S>T No ClinGen
TOPMed
gnomAD
rs1281640886
CA347651352
267 Y>H No ClinGen
gnomAD
CA347651169
rs1558734320
271 M>I No ClinGen
Ensembl
rs1573941080
CA347651210
271 M>T No ClinGen
Ensembl
rs1010589483
CA52406256
274 R>C No ClinGen
gnomAD
CA1776914
rs762860851
274 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 275 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA52406238
rs892448829
276 H>Q No ClinGen
TOPMed
CA1776913
rs778649160
276 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA347650992
rs1412064358
277 K>R No ClinGen
TOPMed
CA347649710
rs1201984076
286 Y>C No ClinGen
TOPMed
rs369139098
CA1776900
287 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781214291
CA1776899
288 L>P No ClinGen
ExAC
gnomAD
rs1441631365
CA347649691
288 L>V No ClinGen
TOPMed
CA1776897
rs747263368
289 T>I No ClinGen
ExAC
gnomAD
CA347649670
rs1415931370
290 Y>C No ClinGen
TOPMed
COSM576412
CA52403282
rs368914673
291 S>I lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
rs1159951960
CA347649633
293 N>S No ClinGen
TOPMed
CA347649610
rs1573938724
295 Q>L No ClinGen
Ensembl
CA1776896
rs149632619
296 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1776893
rs780170884
297 V>A No ClinGen
ExAC
gnomAD
TCGA novel 297 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347649570
rs1472682102
299 P>S No ClinGen
gnomAD
CA52403262
rs951200488
300 R>C No ClinGen
TOPMed
gnomAD
COSM1227748
rs138719942
CA1776891
300 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347649549
rs1238226425
301 Y>C No ClinGen
TOPMed
gnomAD
rs997703035
CA52403252
303 V>F No ClinGen
TOPMed
rs901967167
CA52403249
304 S>N No ClinGen
TOPMed
gnomAD
rs767009305
CA1776890
305 W>R No ClinGen
ExAC
gnomAD
rs1291946556
CA347649485
307 V>I No ClinGen
gnomAD
CA1776889
rs141727167
309 S>R No ClinGen
ESP
ExAC
CA52403023
rs143562757
311 M>V No ClinGen
ESP
TOPMed
TCGA novel 313 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1300428336
CA347649316
317 K>E No ClinGen
gnomAD
rs766449072
CA1776863
317 K>T No ClinGen
ExAC
gnomAD
CA1776862
rs760700979
318 L>P No ClinGen
ExAC
gnomAD
rs773518469
CA1776861
COSM3840275
320 M>V Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772432796
CA1776860
321 A>T No ClinGen
ExAC
gnomAD
CA1776859
rs749019876
323 L>Q No ClinGen
ExAC
gnomAD
TCGA novel 323 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868428636
CA52403004
326 K>N No ClinGen
Ensembl
CA347649227
rs1480063490
327 N>S No ClinGen
gnomAD
CA347649205
rs1266770379
330 I>F No ClinGen
gnomAD
CA347649204
rs1266770379
330 I>V No ClinGen
gnomAD
rs146759739
CA52403000
332 V>L No ClinGen
ESP
CA1776858
rs775418070
334 D>H No ClinGen
ExAC
gnomAD
CA347649167
rs775418070
334 D>N No ClinGen
ExAC
gnomAD
rs745790648
CA1776856
336 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA1776857
rs140563521
336 I>N No ClinGen
ESP
ExAC
TOPMed
CA52402958
rs370888124
338 A>V No ClinGen
ESP
TOPMed
CA1776852
rs777341785
343 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs200777125
CA1776853
343 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs570567633
CA1776851
345 S>N No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 346 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765565436
CA1776849
349 A>P No ClinGen
ExAC
gnomAD
CA1776848
rs755336827
350 T>P No ClinGen
ExAC
gnomAD
CA347648929
rs1281452228
354 S>Y No ClinGen
gnomAD
rs766817394
CA1776846
356 R>Q No ClinGen
ExAC
gnomAD
rs1451153062
CA347648898
357 K>R No ClinGen
gnomAD
CA347648876
rs1176153785
359 E>K No ClinGen
gnomAD
rs1313885184
CA347648862
360 G>S No ClinGen
gnomAD
TCGA novel 364 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1776843
rs767768801
364 P>L No ClinGen
ExAC
gnomAD
rs1195793193
CA347648810
364 P>S No ClinGen
gnomAD
CA347648799
rs932459835
365 A>G No ClinGen
TOPMed
rs932459835
CA52402928
365 A>V No ClinGen
TOPMed
COSM3380254
CA1776840
rs533954441
366 R>Q pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs774757302
CA1776841
366 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1203054186
CA347648783
367 I>T No ClinGen
TOPMed
gnomAD
rs1321540562
CA347648771
368 E>G No ClinGen
gnomAD
CA1776839
rs759275696
369 Y>C No ClinGen
ExAC
gnomAD
CA52402887
rs201771782
370 A>G No ClinGen
1000Genomes
rs1326412614
CA347648749
370 A>S No ClinGen
TOPMed
gnomAD
CA52402886
rs201771782
370 A>V No ClinGen
1000Genomes

No associated diseases with Q9NQZ5

2 regional properties for Q9NQZ5

Type Name Position InterPro Accession
domain START domain 121 - 329 IPR002913
domain STARD7, START domain 117 - 325 IPR041949

Functions

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

1 GO annotations of cellular component

Name Definition
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.

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

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9Y365 STARD10 START domain-containing protein 10 Homo sapiens (Human) PR
Q9JMD3 Stard10 START domain-containing protein 10 Mus musculus (Mouse) PR
Q8R1R3 Stard7 StAR-related lipid transfer protein 7, mitochondrial Mus musculus (Mouse) PR
10 20 30 40 50 60
MLPRRLLAAW LAGTRGGGLL ALLANQCRFV TGLRVRRAQQ IAQLYGRLYS ESSRRVLLGR
70 80 90 100 110 120
LWRRLHGRPG HASALMAALA GVFVWDEERI QEEELQRSIN EMKRLEEMSN MFQSSGVQHH
130 140 150 160 170 180
PPEPKAQTEG NEDSEGKEQR WEMVMDKKHF KLWRRPITGT HLYQYRVFGT YTDVTPRQFF
190 200 210 220 230 240
NVQLDTEYRK KWDALVIKLE VIERDVVSGS EVLHWVTHFP YPMYSRDYVY VRRYSVDQEN
250 260 270 280 290 300
NMMVLVSRAV EHPSVPESPE FVRVRSYESQ MVIRPHKSFD ENGFDYLLTY SDNPQTVFPR
310 320 330 340 350 360
YCVSWMVSSG MPDFLEKLHM ATLKAKNMEI KVKDYISAKP LEMSSEAKAT SQSSERKNEG
SCGPARIEYA