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 Q2VYF4

Entry ID Method Resolution Chain Position Source
AF-Q2VYF4-F1 Predicted AlphaFoldDB

402 variants for Q2VYF4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs769324819
CA4717592
2 A>T No ClinGen
ExAC
gnomAD
CA4717593
rs373615661
3 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA370713094
rs1295820672
4 Y>C No ClinGen
TOPMed
gnomAD
rs1046984697
CA175120204
5 S>N No ClinGen
Ensembl
rs1002833768
CA175120223
9 V>A No ClinGen
Ensembl
rs1018464274
CA175120227
13 A>D No ClinGen
TOPMed
gnomAD
CA370713157
rs1286014810
14 R>* No ClinGen
gnomAD
rs749773573
CA370713158
14 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4717594
rs749773573
14 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA370713170
rs1228670045
16 R>I No ClinGen
gnomAD
CA4717610
rs754025929
17 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA4717614
rs754749299
23 H>N No ClinGen
ExAC
gnomAD
rs1471821066
CA370715397
25 T>I No ClinGen
TOPMed
gnomAD
CA370715368
rs1296274153
25 T>P No ClinGen
TOPMed
CA370715565
rs780856797
31 P>A No ClinGen
ExAC
gnomAD
CA4717615
rs780856797
31 P>S No ClinGen
ExAC
gnomAD
rs752260399
CA4717616
CA370715605
32 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs949369805
CA175122014
33 C>R No ClinGen
Ensembl
TCGA novel 34 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370259371
CA370715740
36 L>R No ClinGen
TOPMed
TCGA novel 36 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755813998
CA4717617
39 P>L No ClinGen
ExAC
rs777252041
CA4717618
40 D>E No ClinGen
ExAC
gnomAD
rs748865530
CA4717619
41 S>P No ClinGen
ExAC
gnomAD
rs1333039267
CA370715866
42 H>Y No ClinGen
TOPMed
gnomAD
rs779305461
CA4717621
44 N>D No ClinGen
ExAC
gnomAD
rs746197557
CA4717623
47 C>R No ClinGen
ExAC
TOPMed
rs1284271910
CA370716027
48 M>I No ClinGen
gnomAD
CA370716020
rs1431895702
48 M>R No ClinGen
TOPMed
CA175122064
rs200086755
49 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA370716073
rs1299744136
51 Y>* No ClinGen
gnomAD
CA370716069
rs1226012392
51 Y>C No ClinGen
gnomAD
rs772359023
CA4717624
51 Y>N No ClinGen
ExAC
gnomAD
CA175122067
rs1055824678
52 E>* No ClinGen
TOPMed
gnomAD
CA370716075
rs1055824678
52 E>K No ClinGen
TOPMed
gnomAD
rs775966942
CA4717625
53 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1338612073
CA370716122
54 K>E No ClinGen
gnomAD
CA4717626
rs144305067
57 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148738728
CA4717628
59 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4717629
rs372275125
62 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766289460
CA4717630
64 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs537786240
CA175122103
64 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA4717632
rs542290756
65 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA370716417
rs1172327760
66 V>L No ClinGen
gnomAD
CA370716433
rs1405684388
67 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs752547527
CA4717634
69 P>R No ClinGen
ExAC
gnomAD
CA175122107
rs958590715
69 P>S No ClinGen
TOPMed
gnomAD
rs755759012
CA4717635
71 T>I No ClinGen
ExAC
gnomAD
rs777409697
CA4717636
74 I>M No ClinGen
ExAC
gnomAD
CA370716578
rs1432306427
75 Q>* No ClinGen
gnomAD
rs1020894480
CA175122113
79 T>I No ClinGen
Ensembl
rs376807655
CA4717637
80 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA370716722
rs1585980362
82 C>R No ClinGen
Ensembl
CA4717640
rs746333592
86 E>G No ClinGen
ExAC
gnomAD
CA4717639
rs779438461
86 E>Q No ClinGen
ExAC
gnomAD
rs1221095742
CA370716920
89 G>V No ClinGen
gnomAD
CA175122126
rs1021399195
91 P>R No ClinGen
TOPMed
gnomAD
CA370716967
rs1263995067
92 Q>* No ClinGen
TOPMed
gnomAD
rs997801460
CA175122128
92 Q>R No ClinGen
TOPMed
gnomAD
CA370716988
rs1206879245
94 E>K No ClinGen
gnomAD
rs199547470
CA175122132
95 Q>K No ClinGen
Ensembl
rs1029966464
CA175122133
99 H>R No ClinGen
TOPMed
CA4717641
rs772688230
101 Q>P No ClinGen
ExAC
gnomAD
CA370717128
rs1212031824
102 V>M No ClinGen
gnomAD
rs1480508627
CA370717164
103 T>R No ClinGen
TOPMed
rs780273690
CA4717642
104 S>G No ClinGen
ExAC
gnomAD
CA4717643
rs369522263
104 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 105 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376227478
CA370717216
106 Q>* No ClinGen
gnomAD
CA370717212
rs1376227478
106 Q>K No ClinGen
gnomAD
rs768939911
CA175122134
113 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs768939911
CA4717644
113 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA370717347
rs777013953
114 E>K No ClinGen
ExAC
gnomAD
CA4717645
rs777013953
114 E>Q No ClinGen
ExAC
gnomAD
rs769731386
CA4717647
115 I>T No ClinGen
ExAC
gnomAD
rs773388994
CA4717648
116 K>E No ClinGen
ExAC
gnomAD
rs767558652
CA4717650
117 E>D No ClinGen
ExAC
gnomAD
CA4717649
rs759379631
117 E>G No ClinGen
ExAC
gnomAD
rs1332537259
CA370717473
120 Q>P No ClinGen
gnomAD
CA4717651
rs752424957
121 S>C No ClinGen
ExAC
gnomAD
rs752424957
CA370717512
121 S>F No ClinGen
ExAC
gnomAD
CA4717652
rs760477930
122 Y>H Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 122 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370717575
rs1439116990
124 Q>* No ClinGen
TOPMed
gnomAD
TCGA novel 126 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150983987
CA4717655
126 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA370717652
rs1351513832
127 M>T No ClinGen
gnomAD
CA370717645
COSM1285911
COSM1285912
rs1585980862
127 M>V autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
Ensembl
CA4717658
rs764635159
131 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4717659
rs750011845
134 Y>* No ClinGen
ExAC
gnomAD
rs1200578196
CA370717773
134 Y>N No ClinGen
TOPMed
gnomAD
rs1471400987
CA370717790
135 N>D No ClinGen
TOPMed
gnomAD
rs758760494
CA4717660
135 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1338009683
CA370717810
136 G>E No ClinGen
TOPMed
rs1363809093
CA370717819
137 F>L No ClinGen
gnomAD
CA370717830
rs1457142652
137 F>L No ClinGen
TOPMed
CA581431035
rs1563386105
138 Y>* No ClinGen
Ensembl
CA4717661
rs780716788
138 Y>C No ClinGen
ExAC
TOPMed
rs780716788
CA370717840
138 Y>S No ClinGen
ExAC
TOPMed
CA4717662
rs747325319
139 L>* No ClinGen
ExAC
TOPMed
gnomAD
rs747325319
CA370717855
139 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs375193498
CA4717664
141 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781718167
CA4717665
143 D>H No ClinGen
ExAC
gnomAD
rs770111359
CA370717932
144 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs770111359
CA4717667
144 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA175122182
rs981997582
145 K>E No ClinGen
Ensembl
CA4717668
rs773162729
145 K>R No ClinGen
ExAC
gnomAD
CA4717669
rs749391639
146 V>F No ClinGen
ExAC
gnomAD
CA4717670
rs749391639
146 V>I No ClinGen
ExAC
gnomAD
rs976388655
CA175122193
147 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 148 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1204249199
CA370717963
149 R>K No ClinGen
TOPMed
rs1263813404
CA370717986
152 W>* No ClinGen
gnomAD
rs775430653
CA4717672
153 R>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 154 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1585981387
CA370718019
155 L>V No ClinGen
Ensembl
CA370718041
rs1223968080
156 H>P No ClinGen
gnomAD
rs760426573
CA370718046
156 H>Q No ClinGen
ExAC
gnomAD
CA370718037
rs1223968080
156 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA370718069
rs1482285171
158 Q>R No ClinGen
gnomAD
rs372850103
CA4717674
163 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776463175
CA4717675
163 R>Q No ClinGen
ExAC
gnomAD
CA4717676
rs574356512
166 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4717677
rs764943977
166 R>Q No ClinGen
ExAC
gnomAD
CA370718182
rs1167899107
167 R>M No ClinGen
gnomAD
rs1408303275
CA370718583
174 D>A No ClinGen
TOPMed
gnomAD
rs1408303275
CA370718584
174 D>G No ClinGen
TOPMed
gnomAD
TCGA novel 175 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1037902290
CA175122631
177 R>C No ClinGen
TOPMed
gnomAD
CA4717693
rs374786773
177 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA370718667
rs374786773
177 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4717694
rs764745142
180 P>L No ClinGen
ExAC
gnomAD
CA370718757
rs1311988479
182 M>V No ClinGen
TOPMed
gnomAD
CA4717695
rs772946645
183 V>M No ClinGen
ExAC
gnomAD
rs1264652902
CA370718805
184 F>Y No ClinGen
gnomAD
CA370718926
rs929614648
190 M>L No ClinGen
TOPMed
gnomAD
rs929614648
CA175122644
190 M>V No ClinGen
TOPMed
gnomAD
rs1429970291
CA370719029
193 L>V No ClinGen
Ensembl
CA175122648
rs531601752
195 P>S No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 199 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370719215
rs1354609903
199 K>R No ClinGen
TOPMed
CA175122663
rs549663160
200 L>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1285329029
CA370719367
204 M>I No ClinGen
TOPMed
CA370719366
rs1266334566
204 M>T No ClinGen
TOPMed
gnomAD
CA370719450
rs762551516
208 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs762551516
CA4717696
208 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA370719524
rs1325354194
211 S>N No ClinGen
TOPMed
CA175122668
rs1003206692
212 E>D No ClinGen
TOPMed
rs753535533
CA4717697
213 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA175122675
rs1016723565
214 K>E No ClinGen
TOPMed
gnomAD
rs1312024944
CA370721913
216 E>A No ClinGen
gnomAD
CA370721914
rs1312024944
216 E>G No ClinGen
gnomAD
rs1429552798
CA370721919
217 E>* No ClinGen
gnomAD
rs1429552798
CA370721918
217 E>K No ClinGen
gnomAD
CA4717721
rs762652799
219 Q>* No ClinGen
ExAC
CA175125130
rs762652799
219 Q>K No ClinGen
ExAC
CA370721944
rs1193631431
220 K>R No ClinGen
gnomAD
rs1251747722
CA370721948
221 K>Q No ClinGen
TOPMed
CA4717723
rs776843286
223 M>I No ClinGen
ExAC
gnomAD
rs759132231
CA4717724
224 A>D No ClinGen
ExAC
gnomAD
rs76995206
CA175125151
225 V>G No ClinGen
Ensembl
rs768090246
CA4717725
226 K>N No ClinGen
ExAC
gnomAD
CA370722028
COSM169129
rs1203708860
232 F>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA370722033
rs1315680993
233 L>F No ClinGen
gnomAD
TCGA novel 233 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4717728
rs761128959
234 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA4717727
rs761128959
234 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA370722052
rs1202730381
236 T>A No ClinGen
gnomAD
rs968827885
CA175125179
237 M>T No ClinGen
Ensembl
rs1274901213
CA370722059
237 M>V No ClinGen
gnomAD
CA370722066
rs1252602286
238 T>A No ClinGen
TOPMed
rs958526848
CA175125185
238 T>I No ClinGen
TOPMed
gnomAD
CA370722088
rs1311276491
241 A>P No ClinGen
TOPMed
TCGA novel 242 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370722104
rs1236914429
243 R>S No ClinGen
gnomAD
rs1013162912
CA175125194
243 R>T No ClinGen
TOPMed
CA4717730
rs147445988
245 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185926240
CA370722126
247 K>Q No ClinGen
gnomAD
rs140611222
CA4717731
248 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs933529350
CA175125198
249 G>S No ClinGen
Ensembl
CA370722150
rs1407959925
250 D>G No ClinGen
TOPMed
rs779116752
CA4717732
250 D>N No ClinGen
ExAC
gnomAD
CA175125201
rs987754899
252 S>A No ClinGen
Ensembl
rs539486775
CA4717733
252 S>C No ClinGen
1000Genomes
ExAC
gnomAD
CA4717735
rs201328621
253 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA370722171
rs1454138281
254 Q>* No ClinGen
gnomAD
CA370722172
rs1298842021
254 Q>P No ClinGen
TOPMed
CA4717737
rs769676111
256 S>A No ClinGen
ExAC
gnomAD
CA4717738
rs147828005
257 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA370722192
rs147828005
257 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA370722201
rs1339842427
259 V>M No ClinGen
gnomAD
rs956954561
CA175125263
261 Q>E No ClinGen
TOPMed
gnomAD
CA4717742
rs774170105
261 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1205622513
CA370722219
261 Q>P No ClinGen
TOPMed
gnomAD
CA4717762
rs775064904
262 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA370722240
rs1160181078
263 Q>* No ClinGen
gnomAD
CA370722260
rs1411116945
266 H>N No ClinGen
TOPMed
TCGA novel 269 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4717764
rs745859990
269 S>G No ClinGen
ExAC
gnomAD
rs1347232480
CA370722292
270 T>I No ClinGen
gnomAD
CA4717765
rs777149932
272 E>K No ClinGen
ExAC
gnomAD
rs1431210478
CA370722312
273 I>M No ClinGen
TOPMed
COSM348136
rs529555864
CA4717767
COSM348137
273 I>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA4717766
rs562215790
273 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA4717768
rs773622372
274 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs1031738432
CA175125602
274 V>I No ClinGen
TOPMed
rs188774054
CA4717769
275 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769707508
CA4717770
275 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4717773
rs764053490
281 E>* No ClinGen
ExAC
gnomAD
CA370722357
rs1183313553
281 E>A No ClinGen
gnomAD
CA175125636
rs764053490
281 E>K No ClinGen
ExAC
gnomAD
rs1472419640
CA370722375
283 Q>R No ClinGen
gnomAD
CA370722378
rs1161610651
284 L>M No ClinGen
gnomAD
CA370722381
rs1563394196
284 L>P No ClinGen
Ensembl
TCGA novel 285 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370722399
rs1367133740
287 E>V No ClinGen
TOPMed
gnomAD
CA370722406
rs1277985647
288 H>R No ClinGen
TOPMed
CA370722413
rs1425102174
289 L>S No ClinGen
gnomAD
CA4717775
rs144972979
290 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs533338214
CA4717776
291 R>H No ClinGen
1000Genomes
TOPMed
gnomAD
rs1389953163
CA370722433
292 P>L No ClinGen
gnomAD
CA370722444
rs1228118410
294 L>V No ClinGen
TOPMed
rs1309218706
CA370722459
296 A>V No ClinGen
TOPMed
gnomAD
CA4717780
rs745727874
299 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1313589034
CA370722484
300 L>P No ClinGen
gnomAD
CA4717782
rs779590451
302 E>G No ClinGen
ExAC
CA4717784
rs768017536
304 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs776164598
CA4717786
309 N>K No ClinGen
ExAC
gnomAD
CA370722548
rs983548200
310 N>I No ClinGen
gnomAD
CA175125706
rs983548200
310 N>S No ClinGen
gnomAD
CA370722555
rs1386990673
311 L>P No ClinGen
gnomAD
rs200885810
CA4717788
313 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1371184301
CA370722565
313 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1371184301
CA370722567
313 R>L No ClinGen
TOPMed
gnomAD
rs773497727
CA4717790
316 L>F No ClinGen
ExAC
gnomAD
rs1456445791
CA370722593
317 L>P No ClinGen
TOPMed
CA4717791
rs763240295
320 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs774468254
CA4717793
323 I>V No ClinGen
ExAC
gnomAD
rs1281032601
CA370723237
329 I>K No ClinGen
gnomAD
rs750292042
CA4717821
330 I>N No ClinGen
ExAC
gnomAD
CA4717820
rs750292042
330 I>T No ClinGen
ExAC
gnomAD
CA4717822
rs145121919
331 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4717824
rs754583761
333 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA4717826
rs780881691
334 G>A No ClinGen
ExAC
gnomAD
rs780881691
CA4717825
334 G>E No ClinGen
ExAC
gnomAD
CA370723300
rs1194773036
334 G>R No ClinGen
TOPMed
CA370723315
rs1267335480
335 V>E No ClinGen
TOPMed
TCGA novel 335 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4717828
rs144610156
336 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749707283
CA4717829
337 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs749707283
CA4717830
337 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs746307854
CA4717833
338 L>F No ClinGen
ExAC
gnomAD
rs1252077231
CA370723395
342 E>Q No ClinGen
gnomAD
rs146651641
CA4717834
345 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199861550
CA4717836
346 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA370723421
rs1455867093
346 A>P No ClinGen
gnomAD
rs1455867093
CA370723422
346 A>S No ClinGen
gnomAD
rs1455867093
CA370723420
346 A>T No ClinGen
gnomAD
rs199861550
CA4717837
346 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200034574
CA175126439
347 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4717838
rs200034574
347 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200034574
CA370723427
347 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766408230
CA4717840
349 A>D No ClinGen
ExAC
gnomAD
rs1281243677
CA370723439
349 A>T No ClinGen
TOPMed
rs774005560
CA4717841
350 R>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs1586017323
CA370723443
350 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
TCGA novel 351 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1099613
COSM1099612
CA4717842
rs140730377
351 G>R endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA370723457
rs1216486401
352 M>I No ClinGen
gnomAD
rs752306519
CA4717844
352 M>L No ClinGen
ExAC
gnomAD
rs1290691000
CA370723459
353 R>G No ClinGen
gnomAD
CA175126446
rs145867034
355 L>P No ClinGen
ESP
TOPMed
CA370723476
rs755785230
356 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA4717845
rs755785230
356 G>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1673863
rs200302486
COSM1673862
CA4717846
357 L>F prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs757697771
CA4717848
358 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs746192491
CA4717850
359 E>K No ClinGen
ExAC
gnomAD
CA4717851
rs111985311
360 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA370723513
rs747174125
362 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1479455897
CA370723515
362 L>P No ClinGen
TOPMed
rs747174125
CA4717853
362 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs202148627
CA4717855
363 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1472116
COSM1472115
rs376204298
CA4717856
363 R>Q prostate [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 364 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4717857
rs770752782
366 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA370723539
rs770752782
366 L>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 367 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4717858
rs776017169
367 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4717859
rs776017169
367 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA370724002
rs1238349091
371 D>E No ClinGen
TOPMed
gnomAD
CA370723997
rs1185981926
371 D>G No ClinGen
gnomAD
CA370724026
rs767053584
373 H>P No ClinGen
ExAC
gnomAD
rs767053584
CA4717888
373 H>R No ClinGen
ExAC
gnomAD
CA370724041
rs1586024863
374 L>P No ClinGen
Ensembl
rs1421178220
CA370724056
375 K>N No ClinGen
gnomAD
rs755411571
CA4717890
376 E>D No ClinGen
ExAC
gnomAD
rs1175086142
CA370724082
377 N>S No ClinGen
gnomAD
CA4717891
rs1554538746
378 V>I No ClinGen
Ensembl
rs1019742176
CA175127465
379 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA370724131
rs1325587180
381 S>C No ClinGen
gnomAD
CA175127467
rs964217639
382 L>F No ClinGen
TOPMed
rs1428355369
CA370724143
382 L>P No ClinGen
gnomAD
CA370724165
rs1283499072
384 L>H No ClinGen
TOPMed
CA4717893
rs781441934
384 L>V No ClinGen
ExAC
CA4717894
rs752915294
387 R>C No ClinGen
ExAC
gnomAD
rs756304385
CA4717895
387 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs756304385
CA370724203
387 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4717897
rs749436119
388 T>N No ClinGen
ExAC
rs1586025184
CA370724207
388 T>P No ClinGen
Ensembl
CA370724230
rs1206083644
389 F>L No ClinGen
gnomAD
CA4717898
rs771980736
389 F>S No ClinGen
ExAC
gnomAD
CA370724239
rs1446983280
390 Y>C No ClinGen
gnomAD
rs780014217
CA4717900
390 Y>H No ClinGen
ExAC
gnomAD
rs780014217
CA4717899
390 Y>N No ClinGen
ExAC
gnomAD
CA370724237
rs1446983280
390 Y>S No ClinGen
gnomAD
CA4717901
rs768454587
391 L>P No ClinGen
ExAC
gnomAD
rs776307287
CA4717902
392 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA4717903
rs200474752
394 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs893811139
CA175127483
395 K>R No ClinGen
Ensembl
CA370724401
rs1313584716
398 P>L No ClinGen
TOPMed
CA370724383
rs1342153474
398 P>T No ClinGen
TOPMed
CA370724425
rs1398129510
399 I>T No ClinGen
gnomAD
rs763212040 400 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA370724470
rs1399530110
401 I>L No ClinGen
TOPMed
CA175127521
rs1042847605
401 I>M No ClinGen
TOPMed
gnomAD
rs1358672277
CA370724475
401 I>T No ClinGen
TOPMed
CA370724484
rs752073783
402 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs752073783
CA4717909
402 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 406 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370724552
rs1343668472
406 E>V No ClinGen
gnomAD
CA4717936
rs760991828
407 A>T No ClinGen
ExAC
gnomAD
CA370725198
rs1435605763
407 A>V No ClinGen
gnomAD
rs764267866
CA4717937
408 P>A No ClinGen
ExAC
gnomAD
rs753165229
CA175128803
409 K>T No ClinGen
Ensembl
rs958393935
CA175128820
411 D>G No ClinGen
TOPMed
rs754016101
CA4717938
413 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1023918565
CA175128838
414 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4717940
rs112380505
415 E>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1099614
COSM1099615
CA175128850
rs894523403
416 L>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA4717942
rs754932891
417 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4717943
rs781043985
418 T>I No ClinGen
ExAC
gnomAD
TCGA novel 419 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4717945
rs755934759
419 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA175128888
rs113805573
421 E>G No ClinGen
Ensembl
CA370725287
rs748892988
422 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA4717947
rs748892988
422 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs112258553
CA4717949
424 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA370725305
rs1250439494
425 N>D No ClinGen
TOPMed
gnomAD
CA4717952
rs374619049
428 D>A No ClinGen
ESP
ExAC
gnomAD
rs745425021
CA4717951
428 D>H No ClinGen
ExAC
gnomAD
CA4717953
rs775899648
431 P>S No ClinGen
ExAC
gnomAD
CA4717954
rs761273566
432 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA370725389
rs762021381
437 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1221119013
CA370725423
440 D>E No ClinGen
gnomAD
CA4717977
rs770029509
440 D>V No ClinGen
ExAC
gnomAD
rs773267715
CA4717978
442 I>T No ClinGen
ExAC
gnomAD
rs763260402
CA4717979
443 Q>* No ClinGen
ExAC
gnomAD
CA370725439
rs763260402
443 Q>E No ClinGen
ExAC
gnomAD
rs766312848
CA4717980
444 P>L No ClinGen
ExAC
gnomAD
CA370725458
rs1258665185
446 P>S No ClinGen
gnomAD
CA370725456
rs1258665185
446 P>T No ClinGen
gnomAD
rs751664700
CA4717983
448 T>I No ClinGen
ExAC
gnomAD
TCGA novel 448 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764184697
CA370725494
452 I>K No ClinGen
ExAC
gnomAD
rs764184697
CA4717985
452 I>T No ClinGen
ExAC
gnomAD
rs147462562
CA4717984
452 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1381986036
CA370725514
455 S>L No ClinGen
TOPMed
CA4717986
rs753662493
457 P>A No ClinGen
ExAC
gnomAD
CA4717987
rs757157302
457 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA370725524
rs753662493
457 P>T No ClinGen
ExAC
gnomAD
rs1159025513
CA370725548
458 I>T No ClinGen
gnomAD
CA4717989
rs749992245
460 L>S No ClinGen
ExAC
gnomAD
CA4717990
rs370581255
461 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA370725592
rs1458408313
461 P>S No ClinGen
TOPMed
rs779360886
CA4717991
463 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4717992
rs372995502
464 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1471580638
CA370725638
464 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1402781354
CA370725692
467 S>F No ClinGen
gnomAD
rs769134544
CA4717993
468 S>P No ClinGen
ExAC
gnomAD
CA370725736
rs1367696079
470 E>D No ClinGen
gnomAD
CA4718023
rs771034690
473 L>R No ClinGen
ExAC
gnomAD
CA4718024
rs774753456
474 Q>K No ClinGen
ExAC
gnomAD
rs1480461184
CA370726030
475 A>G No ClinGen
TOPMed
CA370726028
rs1480461184
475 A>V No ClinGen
TOPMed
rs1466020754
CA370726065
478 Q>K No ClinGen
gnomAD
rs150451779
CA4718026
480 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4718028
rs761586668
481 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4718030
rs772863192
482 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA370726120
rs772863192
482 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1214214465
CA370726129
482 Q>L No ClinGen
gnomAD
rs1276312479
CA370726149
483 N>K No ClinGen
TOPMed
gnomAD
rs571396653
CA4718031
484 S>C No ClinGen
1000Genomes
ExAC
rs766196251
CA4718033
485 K>Q No ClinGen
ExAC
gnomAD
CA4718034
rs143818037
486 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4718035
rs143818037
486 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1212681083
CA370726197
487 S>G No ClinGen
gnomAD
CA175132829
rs960061113
487 S>T No ClinGen
TOPMed
gnomAD
CA175132834
rs886093015
488 S>L No ClinGen
Ensembl
rs752273597
CA4718038
490 G>A No ClinGen
ExAC
gnomAD
CA370726234
rs1191074213
490 G>R No ClinGen
TOPMed
gnomAD
rs1586039246
CA370726250
491 A>E No ClinGen
Ensembl
rs756566429
CA4718039
491 A>T No ClinGen
ExAC
gnomAD

No associated diseases with Q2VYF4

2 regional properties for Q2VYF4

Type Name Position InterPro Accession
domain LETM1-like, ribosome-binding domain 160 - 438 IPR033122
domain LETM2, N-terminal 1 - 111 IPR045742

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion inner membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.

1 GO annotations of molecular function

Name Definition
ribosome binding Binding to a ribosome.

1 GO annotations of biological process

Name Definition
cellular metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q06493 YLH47 LETM1 domain-containing protein YLH47, mitochondrial Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q0VCA3 LETM1 Mitochondrial proton/calcium exchanger protein Bos taurus (Bovine) PR
Q5ZK33 LETM1 Mitochondrial proton/calcium exchanger protein Gallus gallus (Chicken) PR
O95202 LETM1 Mitochondrial proton/calcium exchanger protein Homo sapiens (Human) PR
Q9Z2I0 Letm1 Mitochondrial proton/calcium exchanger protein Mus musculus (Mouse) PR
Q7TNU7 Letm2 LETM1 domain-containing protein LETM2, mitochondrial Mus musculus (Mouse) PR
Q5XIN6 Letm1 Mitochondrial proton/calcium exchanger protein Rattus norvegicus (Rat) PR
Q5PQQ5 Letm2 LETM1 domain-containing protein LETM2, mitochondrial Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAFYSYNSVL AIARTRFPSH FVHPTCSSYS PSCAFLHLPD SHLNKTCMKN YESKKYSDPS
70 80 90 100 110 120
QPGNTVLHPG TRLIQKLHTS TCWLQEVPGK PQLEQATKHP QVTSPQATKE TGMEIKEGKQ
130 140 150 160 170 180
SYRQKIMDEL KYYYNGFYLL WIDAKVAARM VWRLLHGQVL TRRERRRLLR TCVDFFRLVP
190 200 210 220 230 240
FMVFLIVPFM EFLLPVFLKL FPEMLPSTFE SESKKEEKQK KKMAVKLELA KFLQETMTEM
250 260 270 280 290 300
ARRNRAKMGD ASTQLSSYVK QVQTGHKPST KEIVRFSKLF EDQLALEHLD RPQLVALCKL
310 320 330 340 350 360
LELQTFGTNN LLRFQLLMKL KSIKADDEII AKEGVTALSV SELQAACRAR GMRSLGLTEE
370 380 390 400 410 420
QLRQQLTEWQ DLHLKENVPP SLLLLSRTFY LIDVKPKPIE IPLSGEAPKT DILVELPTFT
430 440 450 460 470 480
ESKENMVDLA PQLKGTKDED FIQPPPVTSS PITPSTPISL PKGPITSSEE PTLQAKSQMT
490
AQNSKASSKG A