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

4 structures for Q9H2U1

Entry ID Method Resolution Chain Position Source
2N16 NMR - A 53-70 PDB
2N21 NMR - A 53-70 PDB
6Q6R X-ray 150 A E/F/G/H 53-81 PDB
AF-Q9H2U1-F1 Predicted AlphaFoldDB

660 variants for Q9H2U1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1440204061
CA355120834
2 S>N No ClinGen
gnomAD
rs370181315
CA2674428
3 Y>H No ClinGen
ESP
ExAC
gnomAD
CA2674427
rs771686732
4 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1170756954
CA355120811
5 Y>C No ClinGen
gnomAD
rs375589062
CA2674426
5 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372982076
CA2674424
6 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773934907
CA2674425
6 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2674423
rs748752789
7 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs777707368
CA2674422
8 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs756053986
CA2674421
CA355120790
8 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1181666717
CA355120777
10 G>D No ClinGen
gnomAD
CA355120774
rs1576888682
11 R>S No ClinGen
Ensembl
rs1329511191
CA355120749
14 G>D No ClinGen
TOPMed
gnomAD
TCGA novel
CA355120750
rs1329511191
14 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
CA2674420
rs747936122
16 R>C No ClinGen
ExAC
gnomAD
rs745406144
CA2674419
16 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2674418
rs758611003
17 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA355120735
rs758611003
17 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA355120727
rs1272470194
18 S>C No ClinGen
gnomAD
CA355120730
rs1306010350
18 S>P No ClinGen
gnomAD
rs750691599
CA355120721
19 G>A No ClinGen
ExAC
gnomAD
rs1247186254
CA355120723
19 G>S No ClinGen
gnomAD
rs750691599
CA2674417
19 G>V No ClinGen
ExAC
gnomAD
rs1009578310
CA85784465
21 G>A No ClinGen
TOPMed
gnomAD
rs533475988
CA2674414
22 Y>S No ClinGen
ExAC
rs753922693
CA2674413
24 G>R No ClinGen
ExAC
gnomAD
CA2674412
rs764748750
25 G>R No ClinGen
ExAC
gnomAD
rs1306964560
CA355120687
25 G>V No ClinGen
gnomAD
rs759751451
CA2674407
26 P>R No ClinGen
ExAC
gnomAD
rs1559963470
CA355120684
26 P>S No ClinGen
Ensembl
CA2674406
rs774020317
27 A>E No ClinGen
ExAC
gnomAD
rs770517246
CA2674405
28 G>E No ClinGen
ExAC
gnomAD
CA2674404
rs762496026
30 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs1479663687
CA355120653
31 G>E No ClinGen
gnomAD
CA355120655
rs1479663687
31 G>V No ClinGen
gnomAD
rs1576888584
CA355120650
32 G>C No ClinGen
Ensembl
rs772676265
CA2674403
34 R>Q No ClinGen
ExAC
gnomAD
CA355120631
rs1223494155
35 G>A No ClinGen
gnomAD
CA85784464
rs764811567
35 G>S No ClinGen
Ensembl
CA2674401
rs748106524
37 G>E No ClinGen
ExAC
gnomAD
CA355120623
rs1290013457
37 G>R No ClinGen
gnomAD
CA2674397
rs576957075
44 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs576957075
CA355120579
44 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1370526043
CA355120580
44 G>R No ClinGen
gnomAD
rs576957075
CA355120578
44 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2674396
rs779300245
45 G>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 45 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376557871
CA2674395
46 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs558792451
CA2674393
47 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1345725102
CA355120556
49 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 49 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2674392
rs756088630
49 G>V No ClinGen
ExAC
gnomAD
rs1559963379
CA355120551
50 R>W No ClinGen
Ensembl
CA2674390
rs753252393
51 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA2674389
rs376376653
52 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA355120519
rs1486365314
55 G>A No ClinGen
gnomAD
CA355120522
rs200451346
CA2674387
55 G>R No ClinGen
ExAC
gnomAD
CA355120506
rs1314660044
57 L>R No ClinGen
gnomAD
CA2674384
rs772770487
57 L>V No ClinGen
ExAC
gnomAD
CA355120494
rs1200601058
59 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1223544645
CA355120482
61 E>G No ClinGen
gnomAD
rs769364061
CA2674383
61 E>K No ClinGen
ExAC
rs1159039437
CA355120467
63 G>A No ClinGen
TOPMed
rs1347047519
CA355120469
63 G>S No ClinGen
TOPMed
gnomAD
CA85784461
rs866694888
CA85784462
64 M>I No ClinGen
TOPMed
CA2674382
rs761165750
64 M>L No ClinGen
ExAC
gnomAD
CA2674381
rs776661898
66 Y>F No ClinGen
ExAC
gnomAD
CA2674379
rs746851158
68 K>E No ClinGen
ExAC
gnomAD
rs1451511014
CA355120427
69 K>T No ClinGen
gnomAD
CA355120394
rs1427488260
73 K>N No ClinGen
TOPMed
gnomAD
rs199746825
CA2674375
74 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2674376
rs749533653
74 N>S No ClinGen
ExAC
gnomAD
rs756248849
CA2674374
75 K>R No ClinGen
ExAC
gnomAD
rs767557562
CA2674373
76 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1185343876
CA355120368
77 A>G No ClinGen
gnomAD
CA2674371
rs187165766
79 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1259848519
CA355120351
80 Q>E No ClinGen
Ensembl
CA2674343
rs760194903
84 V>I No ClinGen
ExAC
gnomAD
rs1429562996
CA355120291
86 H>Q No ClinGen
gnomAD
rs1386248260
CA355120284
87 M>I No ClinGen
gnomAD
TCGA novel 87 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201423228
CA2674342
88 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs375298743
CA2674341
90 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA85783560
rs954292951
90 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA355120262
rs1186267485
91 R>* No ClinGen
gnomAD
rs759420266
CA2674340
91 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770117599
CA2674338
93 E>A No ClinGen
ExAC
gnomAD
CA2674339
rs773983100
93 E>Q No ClinGen
ExAC
gnomAD
rs748303595
CA2674337
94 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 95 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs976806523
CA85783559
95 I>V No ClinGen
TOPMed
TCGA novel 96 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355120226
rs1481761535
97 Q>E No ClinGen
TOPMed
CA2674334
rs747055754
97 Q>R No ClinGen
ExAC
gnomAD
rs967186926
CA85783557
98 L>S No ClinGen
Ensembl
rs780565013
CA2674333
99 L>V No ClinGen
ExAC
gnomAD
rs758881420
CA2674332
101 S>Y No ClinGen
ExAC
gnomAD
CA2674331
rs746285368
104 A>T No ClinGen
ExAC
gnomAD
CA2674330
rs372294393
104 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA85783556
rs142405159
105 K>R No ClinGen
ESP
TOPMed
CA355120170
rs1390675087
106 N>D No ClinGen
gnomAD
CA355120156
rs1159630633
107 D>E No ClinGen
gnomAD
rs1412003608
CA355120161
107 D>Y No ClinGen
TOPMed
rs572056315
CA2674327
110 S>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1164733878
CA355120139
110 S>A No ClinGen
TOPMed
rs572056315
CA355120135
110 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355120128
rs1472066814
111 E>D No ClinGen
gnomAD
rs1022716866
CA85783555
113 Q>R No ClinGen
TOPMed
rs777526815
CA2674326
114 I>V No ClinGen
ExAC
gnomAD
rs1449604463
CA355120104
115 S>Y No ClinGen
gnomAD
rs755707305
CA2674325
116 W>S No ClinGen
ExAC
gnomAD
rs369663360
CA2674324
117 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2674323
rs767599231
118 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs759383912
CA2674322
119 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA355120071
rs1381688056
120 E>V No ClinGen
TOPMed
CA2674321
rs377209125
122 H>Y No ClinGen
ESP
ExAC
gnomAD
CA2674320
rs766104286
123 G>E No ClinGen
ExAC
TOPMed
CA2674294
rs138481688
124 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1412418114
CA355120017
127 E>K No ClinGen
gnomAD
rs374481403
CA2674292
130 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2674291
rs759618376
130 T>I No ClinGen
ExAC
gnomAD
rs1454421554
CA355119981
132 N>S No ClinGen
TOPMed
rs774738637
CA2674290
133 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA355119972
rs1388301072
134 P>T No ClinGen
gnomAD
CA2674289
rs771442180
135 C>Y No ClinGen
ExAC
gnomAD
CA2674288
rs749710536
137 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA355119934
rs1404600321
139 K>R No ClinGen
TOPMed
rs1225542681
CA355119926
140 L>P No ClinGen
gnomAD
CA355119915
rs1284140683
142 I>V No ClinGen
TOPMed
rs566031900
CA2674286
143 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355119896
rs1559959785
144 E>D No ClinGen
Ensembl
CA355119898
rs1221856437
144 E>G No ClinGen
TOPMed
rs1221856437
CA355119897
144 E>V No ClinGen
TOPMed
rs1306274182
CA355119893
145 K>E No ClinGen
TOPMed
rs747815107
COSM1040209
CA2674285
145 K>N Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs945630937
CA355119874
147 L>F No ClinGen
TOPMed
gnomAD
CA355119869
rs1234893253
148 I>K No ClinGen
gnomAD
rs367855835
CA2674283
148 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 149 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1304088085
CA355119860
149 N>K No ClinGen
gnomAD
rs1445125300
CA355119857
150 Q>E No ClinGen
gnomAD
rs1445125300
CA355119858
150 Q>K No ClinGen
gnomAD
rs879119392
CA85783470
150 Q>P No ClinGen
gnomAD
CA85783469
rs879119392
150 Q>R No ClinGen
gnomAD
rs779905545
CA2674281
151 E>D No ClinGen
ExAC
gnomAD
rs1058299
VAR_027140
CA2674282
151 E>K No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA355119843
rs1319877362
152 K>T No ClinGen
gnomAD
CA85783468
rs923207712
153 K>N No ClinGen
TOPMed
rs373108427 154 M>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2674280
rs758329623
154 M>L No ClinGen
ExAC
gnomAD
rs1393934825
CA355119817
155 F>L No ClinGen
gnomAD
CA2674277
rs750288689
156 R>G No ClinGen
ExAC
gnomAD
CA355119797
rs1445178962
156 R>T No ClinGen
TOPMed
gnomAD
rs1053785889
CA85783467
160 R>G No ClinGen
Ensembl
CA2674276
rs756991329
160 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA2674274
rs752946103
161 S>T No ClinGen
ExAC
TOPMed
rs746768660
CA85783466
162 Y>C No ClinGen
Ensembl
CA85783465
rs1015561990
163 I>V No ClinGen
TOPMed
rs766862291
CA2674270
165 R>Q No ClinGen
ExAC
CA355119669
rs1482315163
166 D>V No ClinGen
gnomAD
CA2674269
rs763540594
167 S>F No ClinGen
ExAC
gnomAD
rs1383483307
CA355119363
172 Q>P No ClinGen
TOPMed
CA2674267
rs770285464
173 E>G No ClinGen
ExAC
gnomAD
rs748486094
CA2674266
175 E>G No ClinGen
ExAC
gnomAD
CA355119342
rs1559959675
175 E>K No ClinGen
Ensembl
rs1424065620
CA355119336
176 P>S No ClinGen
TOPMed
CA355119327
rs1226167723
177 D>G No ClinGen
gnomAD
CA355119325
rs1226167723
177 D>V No ClinGen
gnomAD
rs1559959664
CA355119316
179 T>P No ClinGen
Ensembl
rs776171731
CA2674265
180 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs768333798
CA2674264
184 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs746541770
CA2674263
185 L>W No ClinGen
ExAC
CA355119267
rs1368257371
186 E>K No ClinGen
gnomAD
CA2674262
rs779616243
188 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA355119234
rs1351565397
189 Q>K No ClinGen
gnomAD
TCGA novel 193 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs61757215
CA2674259
CA2674260
194 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1408797895
CA355119152
194 D>G No ClinGen
gnomAD
CA355119145
rs1471738542
195 L>F No ClinGen
gnomAD
CA355119135
rs757064717
196 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM1420116
rs370724025
CA2674257
196 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM23511
rs757064717
CA2674258
196 R>W Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs571544760
CA2674255
199 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA355119105
rs1221472102
199 E>Q No ClinGen
gnomAD
rs970803871
CA85783463
200 M>I No ClinGen
TOPMed
gnomAD
CA85783099
rs963787216
202 H>Y No ClinGen
TOPMed
gnomAD
rs770821327
CA2674239
205 E>G No ClinGen
ExAC
gnomAD
CA2674238
rs749100005
207 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2674237
rs777610388
COSM1040207
209 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2674236
rs755806882
210 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA355118226
rs1416615950
212 M>I No ClinGen
TOPMed
CA355118223
rs1293330018
213 Q>* No ClinGen
TOPMed
rs1337710062
CA355118221
213 Q>R No ClinGen
TOPMed
gnomAD
CA355118196
rs1576877593
215 E>K No ClinGen
Ensembl
rs760885157
CA2674220
218 N>D No ClinGen
ExAC
gnomAD
CA85782900
rs896783106
220 I>T No ClinGen
TOPMed
CA2674219
rs775242605
220 I>V No ClinGen
ExAC
gnomAD
rs565024141
CA2674218
222 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2674217
rs759083962
224 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs149886314
CA2674214
226 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2674213
rs777503457
228 I>V No ClinGen
ExAC
gnomAD
CA2674212
rs769660438
229 S>N No ClinGen
ExAC
gnomAD
rs747851403
CA2674211
229 S>R No ClinGen
ExAC
gnomAD
rs193282907
CA2674209
231 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355118074
rs1227183820
233 G>A No ClinGen
TOPMed
CA355118078
rs1410646805
233 G>S No ClinGen
gnomAD
TCGA novel 233 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866037055
CA85782897
235 G>D No ClinGen
Ensembl
CA2674208
rs758663359
246 D>V No ClinGen
ExAC
gnomAD
rs750597793
CA2674207
248 Y>C No ClinGen
ExAC
gnomAD
CA2674206
rs779126431
249 I>V No ClinGen
ExAC
gnomAD
rs764470095
CA2674203
258 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA355117899
rs761148618
259 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA355117897
rs1231169493
259 I>T No ClinGen
gnomAD
CA2674202
rs761148618
259 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA85782896
rs917090818
260 V>I No ClinGen
TOPMed
gnomAD
rs188272051
CA85782895
262 T>P No ClinGen
1000Genomes
CA2674200
rs767220511
266 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2674183
rs778381631
272 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA355117354
rs778381631
272 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs756572280
CA2674182
273 A>T No ClinGen
ExAC
gnomAD
CA355117336
rs1297009891
273 A>V No ClinGen
gnomAD
CA355117329
rs1332804295
274 E>G No ClinGen
TOPMed
rs560624516
CA2674179
278 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs751242466
CA2674178
280 R>K No ClinGen
ExAC
gnomAD
CA2674176
rs762575010
282 E>* No ClinGen
ExAC
gnomAD
rs545178351
CA2674174
283 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1399763825
CA355117218
284 C>F No ClinGen
gnomAD
rs200760394
CA85782519
286 S>R No ClinGen
Ensembl
CA2674172
rs776656161
288 N>S No ClinGen
ExAC
gnomAD
rs761644070
CA2674173
288 N>Y No ClinGen
ExAC
gnomAD
rs768580381
CA2674171
290 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA2674169
rs774740694
294 I>V No ClinGen
ExAC
gnomAD
CA355117144
rs1466359277
295 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs771024580
CA2674168
298 S>G No ClinGen
ExAC
gnomAD
rs189057829
CA2674153
299 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs761343968
CA2674154
299 R>W No ClinGen
ExAC
gnomAD
rs764076484
CA2674152
302 R>K No ClinGen
ExAC
gnomAD
CA2674151
rs760599389
303 K>R No ClinGen
ExAC
gnomAD
CA355117078
rs1279467174
304 Q>K No ClinGen
TOPMed
CA85782402
rs899176569
304 Q>R No ClinGen
TOPMed
gnomAD
CA355117072
rs1207652992
305 G>S No ClinGen
gnomAD
CA355117062
rs1265052384
306 S>C No ClinGen
Ensembl
CA85782401
rs1037895319
307 I>V No ClinGen
TOPMed
gnomAD
rs1274484799
CA355117046
309 Y>H No ClinGen
TOPMed
gnomAD
rs771239703
CA2674149
312 T>I No ClinGen
ExAC
gnomAD
rs1305700904
CA355116980
318 W>* No ClinGen
gnomAD
CA355116959
rs1308443938
321 S>L No ClinGen
gnomAD
rs769794924
CA2674146
321 S>T No ClinGen
ExAC
gnomAD
CA2674145
rs375675104
322 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781700028
CA2674144
323 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2674127
rs769979088
324 Y>C No ClinGen
ExAC
gnomAD
rs1235949164
CA355116912
327 S>G No ClinGen
TOPMed
CA2674125
rs776689416
329 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA2674124
rs371491624
331 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1459672619
CA355116879
332 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA85782395
rs867608114
335 E>* No ClinGen
Ensembl
CA85782394
rs536261791
344 D>G No ClinGen
gnomAD
CA355116773
rs1467614875
347 M>V No ClinGen
gnomAD
rs557690427
CA85782393
348 T>A No ClinGen
1000Genomes
gnomAD
rs780544054
CA2674122
349 V>L No ClinGen
ExAC
gnomAD
CA355127321
rs1326571872
352 D>G No ClinGen
gnomAD
CA85782391
rs3172334
354 L>I No ClinGen
Ensembl
CA2674120
rs772357295
355 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1219544180
CA355127302
355 N>S No ClinGen
gnomAD
rs746199451
COSM1566636
CA2674119
357 R>* large_intestine Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2674118
rs151135113
357 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753453392
CA2674116
362 V>A No ClinGen
ExAC
gnomAD
CA2674114
rs142114460
363 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1419677023
CA355127243
364 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767440112
CA2674112
364 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA355127246
rs1387383019
364 L>S No ClinGen
TOPMed
rs1484707168
CA355127183
373 K>E No ClinGen
gnomAD
rs762011011
CA2674108
376 E>K No ClinGen
ExAC
gnomAD
rs991112283
CA85782389
378 F>L No ClinGen
Ensembl
rs1372997889
CA355127118
380 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2674094
rs781031768
381 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA2674093
rs754937391
383 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA355127089
rs1299934150
384 I>T No ClinGen
TOPMed
CA2674092
rs139842779
385 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA355127074
rs1324648858
386 I>M No ClinGen
gnomAD
rs766175399
CA2674091
386 I>T No ClinGen
ExAC
gnomAD
rs1425220907
CA355127077
386 I>V No ClinGen
gnomAD
CA355127069
rs1388826508
387 P>L No ClinGen
gnomAD
CA2674090
rs758123951
387 P>S No ClinGen
ExAC
gnomAD
rs1210480391
CA355127065
388 G>A No ClinGen
TOPMed
TCGA novel 390 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1483245039
CA355127039
392 P>A No ClinGen
gnomAD
CA2674089
rs754091943
392 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs760718691
CA2674087
396 Y>C No ClinGen
ExAC
gnomAD
rs775613115
CA2674086
397 L>V No ClinGen
ExAC
gnomAD
rs999621606
CA85782248
398 L>V No ClinGen
TOPMed
gnomAD
CA355126983
rs529965388
400 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355126989
rs1332986759
400 D>N No ClinGen
gnomAD
rs1410870522
CA355126981
401 V>I No ClinGen
TOPMed
gnomAD
rs1176396180
CA355126968
403 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1362514485
CA355126949
405 I>K No ClinGen
gnomAD
rs146498505
CA2674084
406 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146498505
CA2674083
406 R>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355126943
rs146498505
406 R>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2674065
rs759492179
407 Y>C No ClinGen
ExAC
gnomAD
rs1200907512
CA355126914
409 P>S No ClinGen
gnomAD
CA2674058
rs761541315
414 H>Q No ClinGen
ExAC
gnomAD
CA2674059
rs769389381
414 H>R No ClinGen
ExAC
rs543903099
CA2674060
414 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA355126871
rs1204957832
415 R>K No ClinGen
gnomAD
CA2674057
rs9438
VAR_027141
416 S>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs9438
CA355126863
416 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746474123
CA2674055
423 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA355126815
rs1254892200
423 M>V No ClinGen
gnomAD
rs1302098656
CA355126790
426 H>R No ClinGen
gnomAD
CA2674052
rs745734355
427 V>A No ClinGen
ExAC
gnomAD
rs1010043030
CA85781992
428 N>H No ClinGen
Ensembl
CA2674051
rs778759805
428 N>S No ClinGen
ExAC
gnomAD
rs201175580
CA2674050
429 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2674049
rs752990736
431 E>G No ClinGen
ExAC
gnomAD
rs1432822056
CA355126743
433 E>A No ClinGen
gnomAD
CA2674048
rs781220404
434 E>G No ClinGen
ExAC
gnomAD
rs1189351206
CA355126724
435 K>N No ClinGen
gnomAD
rs755131401
CA2674047
437 A>V No ClinGen
ExAC
TOPMed
CA2674043
rs763540777
438 I>M No ClinGen
ExAC
gnomAD
CA355126707
rs751657520
438 I>R No ClinGen
ExAC
gnomAD
CA2674045
rs751657520
438 I>T No ClinGen
ExAC
gnomAD
CA355126701
rs1186038497
439 Y>C No ClinGen
TOPMed
CA2674042
rs750902113
440 K>E No ClinGen
ExAC
gnomAD
rs765639976
CA2674041
442 R>C No ClinGen
ExAC
gnomAD
CA2674040
rs762046431
442 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs765639976
CA355126681
442 R>S No ClinGen
ExAC
gnomAD
CA355126659
rs1347815111
445 D>G No ClinGen
TOPMed
gnomAD
CA355126650
rs1405076107
446 Y>F No ClinGen
TOPMed
CA2674037
rs149315263
449 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149315263
CA355126631
449 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774980712
CA2674036
451 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs191495075
CA2674034
452 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 452 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355126610
rs1340631917
453 R>K No ClinGen
gnomAD
TCGA novel 454 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2674024
rs758486477
455 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs371713336
CA355126579
456 A>S No ClinGen
ESP
gnomAD
CA85781964
rs371713336
456 A>T No ClinGen
ESP
gnomAD
CA2674023
rs750970956
456 A>V No ClinGen
ExAC
gnomAD
CA2674022
rs111899617
457 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 458 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1032424652
CA85781963
459 V>I No ClinGen
TOPMed
gnomAD
CA355126554
rs1444301834
460 D>G No ClinGen
gnomAD
CA355126558
rs1308350099
460 D>N No ClinGen
gnomAD
CA355126553
rs1444301834
460 D>V No ClinGen
gnomAD
rs1352654246
CA355126550
461 V>I No ClinGen
gnomAD
rs763875729
CA2674019
462 I>T No ClinGen
ExAC
gnomAD
CA355126529
rs1389639064
464 M>V No ClinGen
TOPMed
gnomAD
CA2674018
rs201400534
465 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 468 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2674016
rs775068749
470 V>A No ClinGen
ExAC
gnomAD
rs1179249482
CA355126472
471 D>G No ClinGen
gnomAD
CA355126466
rs1395012777
472 L>Q No ClinGen
TOPMed
rs112262409
CA85781961
473 N>D No ClinGen
Ensembl
rs758993869
CA85781960
476 V>I No ClinGen
ExAC
gnomAD
CA2674014
rs758993869
476 V>L No ClinGen
ExAC
gnomAD
rs536514494
CA85781959
478 L>V No ClinGen
Ensembl
rs1274726510
CA355126424
479 I>T No ClinGen
gnomAD
rs1036399719
CA85781958
479 I>V No ClinGen
Ensembl
CA2674013
rs774393087
480 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 481 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355126417
rs1450721317
481 Y>N No ClinGen
TOPMed
TCGA novel 481 Y>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770740239
CA2674012
483 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs749172236
CA2674011
485 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762811159
CA2673993
488 D>V No ClinGen
ExAC
gnomAD
COSM728641
CA2673992
rs773134906
490 A>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1055041069
CA85781887
491 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA355126320
rs1452157323
494 F>L No ClinGen
gnomAD
CA85781886
rs867985484
496 P>S No ClinGen
Ensembl
rs1437163102
CA355126298
497 G>A No ClinGen
gnomAD
rs1191263664
CA355126270
501 I>V No ClinGen
gnomAD
rs775904709
CA2673989
502 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA355126233
rs1559952988
506 D>A No ClinGen
Ensembl
TCGA novel 508 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA85781885
rs1045735686
509 M>V No ClinGen
TOPMed
gnomAD
rs746029389
CA2673987
510 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1259931668
CA355126196
511 Q>H No ClinGen
gnomAD
rs916682162
CA85781884
512 V>I No ClinGen
Ensembl
TCGA novel 519 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355126116
rs1478788728
520 L>F No ClinGen
TOPMed
CA2673954
rs761830719
521 I>V No ClinGen
ExAC
gnomAD
CA355126097
rs1395162267
523 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs776349643
CA2673952
523 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774482192
CA2673950
528 M>I No ClinGen
ExAC
gnomAD
rs201995049
CA2673948
530 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA355126020
rs1365536357
535 Q>* No ClinGen
gnomAD
rs766565110
CA355125967
540 T>I No ClinGen
ExAC
gnomAD
rs766565110
CA2673929
540 T>N No ClinGen
ExAC
gnomAD
CA2673927
rs773354597
543 G>R No ClinGen
ExAC
gnomAD
rs773354597
CA2673928
543 G>S No ClinGen
ExAC
gnomAD
CA85781246
rs143919087
545 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2673925
rs143919087
545 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370292953
CA2673926
545 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355125934
rs1486405293
547 I>V No ClinGen
TOPMed
CA2673922
rs376255288
548 V>A No ClinGen
ESP
ExAC
gnomAD
CA2673921
rs775911753
549 I>V No ClinGen
ExAC
gnomAD
rs555040815
CA2673919
554 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2673881
rs769129846
560 I>M No ClinGen
ExAC
gnomAD
CA2673882
rs777343688
560 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 561 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749806167
COSM3004427
CA2673880
562 D>G large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1204653300
CA355125817
563 V>I No ClinGen
gnomAD
rs754807929
CA355125810
564 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs754807929
CA2673878
564 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2673877
rs751332755
565 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA2673876
rs779164052
570 G>A No ClinGen
ExAC
gnomAD
CA2673875
rs375099457
572 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs911524805
CA85781118
575 T>M No ClinGen
TOPMed
gnomAD
CA355125735
rs1231204154
575 T>S No ClinGen
gnomAD
CA355125732
rs1300923973
576 H>N No ClinGen
TOPMed
CA85781117
rs934434664
576 H>R No ClinGen
gnomAD
CA2673872
rs760620287
582 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA85781116
VAR_027142
rs17853513
583 I>N No ClinGen
UniProt
Ensembl
dbSNP
rs1405027474
CA355125679
583 I>V No ClinGen
TOPMed
rs747991225
CA2673871
584 S>C No ClinGen
ExAC
gnomAD
rs747991225
CA85781115
584 S>G No ClinGen
ExAC
gnomAD
CA2673870
rs768102537
585 T>I No ClinGen
ExAC
gnomAD
rs774855423
CA2673868
586 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1405105096
CA355125661
586 M>T No ClinGen
gnomAD
rs774855423
CA85781114
586 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA2673866
rs762683262
588 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1469002134
CA355125646
588 A>V No ClinGen
gnomAD
CA355125630
rs1468682616
590 W>C No ClinGen
gnomAD
CA2673864
rs769378583
597 K>E No ClinGen
ExAC
gnomAD
rs778305476 599 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2673861
rs781157437
600 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA355125550
rs1223273053
602 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 602 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1576864462
CA355125532
605 R>K No ClinGen
Ensembl
CA2673843
rs763189600
606 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA2673842
rs772959037
607 Q>H No ClinGen
ExAC
gnomAD
CA2673841
rs764775767
608 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA355125501
rs1576862260
608 P>R No ClinGen
Ensembl
TCGA novel 609 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761444991
CA2673840
610 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA355125474
rs1374135662
612 Y>C No ClinGen
TOPMed
TCGA novel 615 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1429025334
CA355125447
616 N>D No ClinGen
gnomAD
rs1314010717
CA355125417
620 A>G No ClinGen
gnomAD
rs1396372358
CA355125396
624 D>H No ClinGen
gnomAD
rs775355206
CA2673836
626 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs371829924
CA85780788
631 I>N No ClinGen
ESP
rs771930327
CA2673835
633 R>T No ClinGen
ExAC
gnomAD
CA2673834
rs745616345
634 T>I No ClinGen
ExAC
gnomAD
rs143189936
CA2673833
637 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 638 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262462940
CA355125285
640 C>Y No ClinGen
gnomAD
CA355125261
rs1211525526
643 I>T No ClinGen
gnomAD
CA355125254
rs1233159297
644 K>R No ClinGen
TOPMed
rs535950163
CA2673814
647 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs755150998
CA2673812
649 G>A No ClinGen
ExAC
gnomAD
CA2673813
rs755150998
649 G>D No ClinGen
ExAC
gnomAD
rs2666194
CA355125213
649 G>R No ClinGen
gnomAD
rs2666194
CA85780729
649 G>S No ClinGen
gnomAD
rs747063807
CA2673810
650 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1057155848
CA85780727
651 I>T No ClinGen
Ensembl
CA2673809
rs374959754
652 A>S No ClinGen
ESP
ExAC
gnomAD
CA355125190
rs1463763987
653 Y>C No ClinGen
gnomAD
TCGA novel 655 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs908638366
CA85780726
659 M>T No ClinGen
TOPMed
gnomAD
CA85780725
rs984168279
661 P>A No ClinGen
TOPMed
gnomAD
rs984168279
CA355125135
661 P>S No ClinGen
TOPMed
gnomAD
rs984168279
CA85780724
661 P>T No ClinGen
TOPMed
gnomAD
TCGA novel 663 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355125112
rs1419530710
664 N>K No ClinGen
gnomAD
rs765531803
CA2673806
667 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA355125097
rs1247490947
667 V>M No ClinGen
TOPMed
CA355125089
rs1176799059
668 L>S No ClinGen
gnomAD
rs1576861615
CA355125083
669 L>F No ClinGen
Ensembl
rs1274013189
CA355125074
670 S>F No ClinGen
gnomAD
CA85780722
rs201582480
671 I>M No ClinGen
1000Genomes
TOPMed
gnomAD
CA2673803
rs763701497
671 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA355125055
rs1240396068
673 H>Q No ClinGen
gnomAD
CA2673786
rs746382604
678 N>Y No ClinGen
ExAC
gnomAD
rs757655851
CA2673784
679 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA355124971
rs149205201
684 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149205201
CA2673782
684 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773557405 685 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 685 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA85780292
rs1023547104
687 T>I No ClinGen
TOPMed
CA355124943
rs1382539365
688 P>A No ClinGen
gnomAD
rs1382539365
CA355124942
688 P>S No ClinGen
gnomAD
rs1362459799
CA355124918
692 H>Y No ClinGen
gnomAD
CA2673780
rs755754972
695 R>* No ClinGen
ExAC
gnomAD
rs752340783
CA2673779
695 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs766960645
CA2673778
697 P>L No ClinGen
ExAC
rs375447310
CA2673776
698 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773137935
CA2673773
701 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA355124863
rs1449445667
701 H>Y No ClinGen
gnomAD
CA355124856
rs1357657536
702 I>F No ClinGen
TOPMed
CA355124854
rs1168794447
702 I>T No ClinGen
gnomAD
CA355124814
rs1222257475
708 F>L No ClinGen
TOPMed
rs1424691368
CA355124796
710 A>V No ClinGen
gnomAD
CA85780289
rs372524615
712 F>L No ClinGen
Ensembl
rs1261405159
CA355124781
713 C>G No ClinGen
TOPMed
gnomAD
TCGA novel 717 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355124742
rs1249904189
718 V>A No ClinGen
TOPMed
rs1194332211
CA355124746
718 V>I No ClinGen
TOPMed
CA85780287
rs998897815
720 T>A No ClinGen
TOPMed
gnomAD
rs1280443240
CA355124728
721 I>V No ClinGen
gnomAD
CA355124709
rs1383306234
724 S>G No ClinGen
TOPMed
CA2673770
rs775729954
724 S>T No ClinGen
ExAC
gnomAD
rs199954319
CA85780285
725 L>F No ClinGen
Ensembl
rs1342485127
CA355124699
725 L>R No ClinGen
gnomAD
CA355124697
rs1443734599
726 S>G No ClinGen
TOPMed
TCGA novel 727 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768176187
CA2673769
728 K>R No ClinGen
ExAC
gnomAD
rs370305174
CA2673767
732 V>I No ClinGen
ESP
ExAC
gnomAD
rs370305174
CA85780284
732 V>L No ClinGen
ESP
ExAC
gnomAD
rs1043187850
CA85780283
733 I>V No ClinGen
TOPMed
TCGA novel 737 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA85780276
rs1006752629
738 E>G No ClinGen
Ensembl
CA355124579
rs1467398968
741 A>V No ClinGen
gnomAD
rs1432551622
CA355124578
742 D>N No ClinGen
Ensembl
CA85780275
rs889193975
743 A>G No ClinGen
TOPMed
CA2673749
rs759590228
743 A>S No ClinGen
ExAC
gnomAD
CA85780274
rs889193975
743 A>V No ClinGen
TOPMed
TCGA novel 745 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173603513
CA355124549
746 K>R No ClinGen
TOPMed
CA2673748
rs774480904
749 A>T No ClinGen
ExAC
gnomAD
CA2673747
rs763254140
751 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA355124516
rs763254140
751 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1472720050
CA355124479
756 H>D No ClinGen
gnomAD
CA2673745
rs773671514
760 V>A No ClinGen
ExAC
gnomAD
rs773260677
CA2673744
762 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 767 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465022762
CA355124068
768 E>G No ClinGen
TOPMed
CA2673708
rs753647774
771 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA2673707
rs777634590
771 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM728643
CA2673706
rs755829356
772 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751823753
CA2673705
772 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2673704
rs766568571
774 F>C No ClinGen
ExAC
gnomAD
CA355124009
rs1477564808
775 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1263556631
CA355124004
775 R>S No ClinGen
gnomAD
COSM1420110
CA355123989
rs1487247381
777 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs983909341
CA85780009
779 D>N No ClinGen
TOPMed
CA355123909
rs1211664222
783 E>G No ClinGen
gnomAD
CA2673701
rs765164564
784 Y>F No ClinGen
ExAC
gnomAD
rs762396977
CA2673700
789 N>D No ClinGen
ExAC
gnomAD
rs776953926
CA2673699
790 T>I No ClinGen
ExAC
gnomAD
CA85779999
rs952113824
792 Q>R No ClinGen
TOPMed
rs146446831
CA2673682
796 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355123686
rs1398242873
796 N>K No ClinGen
gnomAD
CA355123679
rs1484180595
797 M>T No ClinGen
TOPMed
rs1185888771
CA355123659
799 G>R No ClinGen
TOPMed
CA2673681
rs530250010
799 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1300529451
CA355123620
802 A>T No ClinGen
gnomAD
rs1164939005
CA355123545
809 G>A No ClinGen
TOPMed
CA2673679
rs754409173
812 S>R No ClinGen
ExAC
gnomAD
rs1172611926
CA355123473
816 P>A No ClinGen
gnomAD
rs1463863908
CA355123471
816 P>H No ClinGen
gnomAD
CA355123448
rs1165415483
818 D>G No ClinGen
gnomAD
CA355123417
rs1425443544
821 S>Y No ClinGen
gnomAD
rs756689810
CA2673656
826 D>A No ClinGen
ExAC
gnomAD
rs112204498
CA85779429
828 E>G No ClinGen
Ensembl
rs1265369789
CA355123295
829 K>T No ClinGen
gnomAD
rs762931017
CA85779427
835 I>V No ClinGen
TOPMed
gnomAD
CA85779422
rs766398981
836 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA2673655
rs766398981
836 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs768012758
CA2673654
841 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA355123162
rs1391845027
842 K>R No ClinGen
TOPMed
CA355123136
rs1334781429
844 A>G No ClinGen
gnomAD
CA355123106
rs1324011744
847 R>Q No ClinGen
TOPMed
gnomAD
rs527309363
CA85779410
849 N>K No ClinGen
gnomAD
rs1158088108
CA355123085
850 L>M No ClinGen
TOPMed
gnomAD
rs1388559804
CA355123072
851 G>D No ClinGen
gnomAD
rs1388559804
CA355123069
851 G>V No ClinGen
gnomAD
rs1035914470
CA85779407
853 K>N No ClinGen
Ensembl
CA85778787
rs1033707683
856 M>I No ClinGen
Ensembl
CA2673653
rs199890757
856 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs753284230
CA2673634
858 K>N No ClinGen
ExAC
CA355122147
rs1195502919
858 K>R No ClinGen
TOPMed
rs768118881
CA355122131
860 Y>D No ClinGen
ExAC
gnomAD
rs768118881
CA2673633
860 Y>H No ClinGen
ExAC
gnomAD
CA355122091
rs751870066
864 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA2673631
rs751870066
864 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA2673630
rs766702613
867 V>A No ClinGen
ExAC
gnomAD
CA355121988
rs1319449725
878 Q>E No ClinGen
TOPMed
rs761280991
CA2673627
880 D>H No ClinGen
ExAC
gnomAD
rs761280991
CA2673626
880 D>Y No ClinGen
ExAC
gnomAD
rs776597389
CA2673625
882 H>N No ClinGen
ExAC
gnomAD
COSM1040187
CA2673624
rs372465114
884 N>S endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA2673623
rs760584736
885 W>C No ClinGen
ExAC
gnomAD
TCGA novel 886 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355121914
rs1429870397
888 Y>C No ClinGen
gnomAD
CA2673622
rs368518294
889 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 889 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA355121894
rs1284270899
891 K>R No ClinGen
TOPMed
rs1405581806
CA355121862
895 S>R No ClinGen
gnomAD
rs1394534782
CA355121864
895 S>T No ClinGen
gnomAD
CA2673606
rs199866859
898 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1166071480
CA355121796
COSM1203546
903 T>A large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1384021500
CA355121785
904 E>D No ClinGen
gnomAD
CA2673604
rs760538965
905 V>I No ClinGen
ExAC
gnomAD
CA355121754
rs1203534130
909 C>S No ClinGen
gnomAD
CA85778551
rs757479472
910 L>F No ClinGen
Ensembl
rs1207928464
CA355121700
917 I>F No ClinGen
TOPMed
gnomAD
CA85778547
rs866726380
920 Q>K No ClinGen
Ensembl
CA355121653
rs377323319
923 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs998150992
CA355121649
924 D>A No ClinGen
TOPMed
rs998150992
CA85778542
924 D>G No ClinGen
TOPMed
CA2673598
rs151188512
924 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA85778539
rs902108724
926 E>K No ClinGen
TOPMed
rs781438310
CA2673597
926 E>V No ClinGen
ExAC
gnomAD
CA355121613
rs1279376763
929 A>V No ClinGen
gnomAD
CA355121602
rs1200671964
931 D>G No ClinGen
TOPMed
gnomAD
CA355121601
rs1200671964
931 D>V No ClinGen
TOPMed
gnomAD
rs750771753
CA2673592
933 W>* No ClinGen
ExAC
gnomAD
CA355121541
rs1364444849
940 A>T No ClinGen
gnomAD
TCGA novel 942 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 943 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753427207
CA2673589
944 H>Q No ClinGen
ExAC
gnomAD
CA2673590
rs756907366
944 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs142222613
CA2673591
944 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355121446
rs1559942446
952 E>K No ClinGen
Ensembl
CA355121439
rs1479521182
953 L>V No ClinGen
TOPMed
rs144256684
CA85778421
955 I>M No ClinGen
ESP
gnomAD
rs779262363
CA2673572
955 I>T No ClinGen
ExAC
gnomAD
rs1196984514
CA355121426
955 I>V No ClinGen
gnomAD
CA2673570
rs748967470
959 E>G No ClinGen
ExAC
gnomAD
rs777448506
CA355121392
960 K>M No ClinGen
ExAC
gnomAD
CA2673569
rs777448506
960 K>R No ClinGen
ExAC
gnomAD
CA355121385
rs1576852179
961 I>T No ClinGen
Ensembl
CA2673568
rs755625188
962 E>Q No ClinGen
ExAC
gnomAD
rs752250569
CA2673567
965 H>Y No ClinGen
ExAC
gnomAD
CA355121352
rs1277011065
966 P>S No ClinGen
TOPMed
gnomAD
rs766874499
CA2673566
967 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1223249933
CA355121337
968 D>E No ClinGen
gnomAD
rs1441179765
CA355121342
968 D>H No ClinGen
TOPMed
CA355121328
rs1319294505
969 W>* No ClinGen
gnomAD
CA2673565
rs377213039
970 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866209660
CA85778410
972 T>A No ClinGen
Ensembl
CA85778407
rs1032662220
975 R>G No ClinGen
TOPMed
gnomAD
rs1424792297
CA355121278
977 C>S No ClinGen
TOPMed
CA355121274
rs1287727041
977 C>S No ClinGen
TOPMed
gnomAD
CA355121275
rs1287727041
977 C>Y No ClinGen
TOPMed
gnomAD
CA2673563
rs766309241
979 V>I No ClinGen
ExAC
gnomAD
rs777044563
CA2673561
983 I>V No ClinGen
ExAC
gnomAD
rs1297969330
CA355121231
984 I>M No ClinGen
TOPMed
rs905581871
CA85778400
984 I>V No ClinGen
TOPMed
TCGA novel 985 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA85778397
rs201136651
990 Q>L No ClinGen
Ensembl
TCGA novel 992 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2673560
rs555450521
994 T>P No ClinGen
1000Genomes
ExAC
gnomAD
rs372847714
CA2673559
996 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1426624053
CA355120930
997 N>S No ClinGen
gnomAD
CA355120917
rs1261160680
999 P>A No ClinGen
gnomAD
CA2673558
rs147970714
999 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA85778389
rs894924455
1000 P>T No ClinGen
TOPMed
CA2673556
rs143454337
1001 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs140010768
CA2673555
1001 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA355120882
rs1260348335
1004 D>E No ClinGen
gnomAD
rs147479799
CA2673554
1005 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA85778382
rs867399225
1006 Y>C No ClinGen
gnomAD
CA2673552
rs61757598
1008 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1009 S>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1009 S>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q9H2U1

6 regional properties for Q9H2U1

Type Name Position InterPro Accession
domain Helicase, C-terminal 477 - 647 IPR001650
conserved_site DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site 329 - 338 IPR002464
domain Helicase-associated domain 669 - 760 IPR007502
domain DEAD/DEAH box helicase domain 212 - 372 IPR011545
domain DEAD-box helicase, OB fold 831 - 917 IPR011709
domain Helicase superfamily 1/2, ATP-binding domain 205 - 396 IPR014001

Functions

Description
EC Number 3.6.4.12 Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Cytoplasm, cytosol
  • Cytoplasm, Stress granule
  • Nucleus speckle
  • Chromosome, telomere
  • Mitochondrion
  • Perikaryon
  • Cell projection, dendrite
  • Cell projection, axon
  • Predominantly localized in the nucleus (PubMed:18279852)
  • Colocalizes with SRSF2 in nuclear speckles (PubMed:18279852)
  • Colocalizes with DDX5 in nucleolar caps upon transcription inhibition (PubMed:18279852)
  • Accumulates and colocalized with TIA1 in cytoplasmic stress granules (SGs) in an arsenite-, heat shock- and RNA-binding-dependent manner (PubMed:18854321)
  • Shuttles into and out of SGs in an ATPase-dependent manner (PubMed:18854321)
  • Colocalizes in the cytosol with the multi-helicase-TICAM1 complex that translocates to the mitochondria upon poly(I:C) RNA ligand stimulation (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.

19 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATP-dependent activity, acting on DNA Catalytic activity that acts to modify DNA, driven by ATP hydrolysis.
DNA helicase activity Unwinding of a DNA helix, driven by ATP hydrolysis.
double-stranded RNA binding Binding to double-stranded RNA.
G-quadruplex DNA binding Binding to G-quadruplex DNA structures, in which groups of four guanines adopt a flat, cyclic Hoogsteen hydrogen-bonding arrangement known as a guanine tetrad. The stacking of guanine tetrads results in G-quadruplex DNA structures. G-quadruplex DNA can form under physiological conditions from some G-rich sequences, such as those found in telomeres, immunoglobulin switch regions, gene promoters, fragile X repeats, and the dimerization domain in the human immunodeficiency virus (HIV) genome.
G-quadruplex RNA binding Binding to a G-quadruplex RNA structure, in which groups of four guanines adopt a flat, cyclic hydrogen-bonding arrangement known as a guanine tetrad.
histone deacetylase binding Binding to histone deacetylase.
magnesium ion binding Binding to a magnesium (Mg) ion.
mRNA 3'-UTR AU-rich region binding Binding to a region containing frequent adenine and uridine bases within the 3' untranslated region of a mRNA molecule or in pre-mRNA intron. The ARE-binding element consensus is UUAUUUAUU. ARE-binding proteins control the stability and/or translation of mRNAs.
mRNA 3'-UTR binding Binding to a 3' untranslated region of an mRNA molecule.
mRNA 5'-UTR binding Binding to an mRNA molecule at its 5' untranslated region.
pre-miRNA binding Binding to a precursor microRNA (pre-miRNA) transcript, a stem-loop-containing precursor of microRNA.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA helicase activity Unwinding of an RNA helix, driven by ATP hydrolysis.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
single-stranded DNA binding Binding to single-stranded DNA.
telomerase RNA binding Binding to the telomerase RNA template.
transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

32 GO annotations of biological process

Name Definition
3'-UTR-mediated mRNA destabilization An mRNA destabilization process in which one or more RNA-binding proteins associate with the 3'-untranslated region (UTR) of an mRNA.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular response to arsenite ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an arsenite ion stimulus.
cellular response to heat Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism.
cellular response to UV Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
G-quadruplex DNA unwinding The process by which G-quadruplex (also known as G4) DNA, which is a four-stranded DNA structure held together by guanine base pairing, is unwound or 'melted'.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
positive regulation of cardioblast differentiation Any process that activates or increases the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating.
positive regulation of cytoplasmic translation Any process that activates or increases the frequency, rate or extent of cytoplasmic translation.
positive regulation of dendritic spine morphogenesis Any process that increases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of hematopoietic progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation.
positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of interferon-alpha production Any process that activates or increases the frequency, rate, or extent of interferon-alpha production.
positive regulation of intracellular mRNA localization Any process that activates or increases the frequency, rate or extent of intracellular mRNA localization.
positive regulation of mRNA 3'-end processing Any process that activates or increases the frequency, rate or extent of mRNA 3'-end processing.
positive regulation of myeloid dendritic cell cytokine production Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production.
positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay Any process that activates or increases the frequency, rate or extent of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay.
positive regulation of telomere maintenance Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA.
positive regulation of telomere maintenance via telomere lengthening Any process that activates or increases the frequency, rate or extent of telomere maintenance via telomere lengthening.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription initiation by RNA polymerase II Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter.
regulation of embryonic development Any process that modulates the frequency, rate or extent of embryonic development.
regulation of mRNA stability Any process that modulates the propensity of mRNA molecules to degradation. Includes processes that both stabilize and destabilize mRNAs.
regulation of transcription by RNA polymerase III Any process that modulates the frequency, rate or extent of transcription mediated by RNA ploymerase III.
response to exogenous dsRNA Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus.
RNA secondary structure unwinding The process in which a secondary structure of RNA are broken or 'melted'.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
telomerase RNA stabilization Prevention of degradation of telomerase RNA (TERC) molecules.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P43329 hrpA ATP-dependent RNA helicase HrpA Escherichia coli (strain K12) PR
O60231 DHX16 Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 Homo sapiens (Human) PR
Q8IX18 DHX40 Probable ATP-dependent RNA helicase DHX40 Homo sapiens (Human) PR
Q6P158 DHX57 Putative ATP-dependent RNA helicase DHX57 Homo sapiens (Human) PR
Q7L7V1 DHX32 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 Homo sapiens (Human) PR
O43143 DHX15 ATP-dependent RNA helicase DHX15 Homo sapiens (Human) PR
Q8IY37 DHX37 Probable ATP-dependent RNA helicase DHX37 Homo sapiens (Human) PR
Q92620 DHX38 Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 Homo sapiens (Human) PR
Q14BI7 Tdrd9 ATP-dependent RNA helicase TDRD9 Mus musculus (Mouse) PR
Q8VHK9 Dhx36 ATP-dependent DNA/RNA helicase DHX36 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSYDYHQNWG RDGGPRSSGG GYGGGPAGGH GGNRGSGGGG GGGGGGRGGR GRHPGHLKGR
70 80 90 100 110 120
EIGMWYAKKQ GQKNKEAERQ ERAVVHMDER REEQIVQLLN SVQAKNDKES EAQISWFAPE
130 140 150 160 170 180
DHGYGTEVST KNTPCSENKL DIQEKKLINQ EKKMFRIRNR SYIDRDSEYL LQENEPDGTL
190 200 210 220 230 240
DQKLLEDLQK KKNDLRYIEM QHFREKLPSY GMQKELVNLI DNHQVTVISG ETGCGKTTQV
250 260 270 280 290 300
TQFILDNYIE RGKGSACRIV CTQPRRISAI SVAERVAAER AESCGSGNST GYQIRLQSRL
310 320 330 340 350 360
PRKQGSILYC TTGIILQWLQ SDPYLSSVSH IVLDEIHERN LQSDVLMTVV KDLLNFRSDL
370 380 390 400 410 420
KVILMSATLN AEKFSEYFGN CPMIHIPGFT FPVVEYLLED VIEKIRYVPE QKEHRSQFKR
430 440 450 460 470 480
GFMQGHVNRQ EKEEKEAIYK ERWPDYVREL RRRYSASTVD VIEMMEDDKV DLNLIVALIR
490 500 510 520 530 540
YIVLEEEDGA ILVFLPGWDN ISTLHDLLMS QVMFKSDKFL IIPLHSLMPT VNQTQVFKRT
550 560 570 580 590 600
PPGVRKIVIA TNIAETSITI DDVVYVIDGG KIKETHFDTQ NNISTMSAEW VSKANAKQRK
610 620 630 640 650 660
GRAGRVQPGH CYHLYNGLRA SLLDDYQLPE ILRTPLEELC LQIKILRLGG IAYFLSRLMD
670 680 690 700 710 720
PPSNEAVLLS IRHLMELNAL DKQEELTPLG VHLARLPVEP HIGKMILFGA LFCCLDPVLT
730 740 750 760 770 780
IAASLSFKDP FVIPLGKEKI ADARRKELAK DTRSDHLTVV NAFEGWEEAR RRGFRYEKDY
790 800 810 820 830 840
CWEYFLSSNT LQMLHNMKGQ FAEHLLGAGF VSSRNPKDPE SNINSDNEKI IKAVICAGLY
850 860 870 880 890 900
PKVAKIRLNL GKKRKMVKVY TKTDGLVAVH PKSVNVEQTD FHYNWLIYHL KMRTSSIYLY
910 920 930 940 950 960
DCTEVSPYCL LFFGGDISIQ KDNDQETIAV DEWIVFQSPA RIAHLVKELR KELDILLQEK
970 980 990 1000
IESPHPVDWN DTKSRDCAVL SAIIDLIKTQ EKATPRNFPP RFQDGYYS