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 Q9UFC0

Entry ID Method Resolution Chain Position Source
AF-Q9UFC0-F1 Predicted AlphaFoldDB

685 variants for Q9UFC0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs942139397
CA163444834
2 G>D No ClinGen
Ensembl
CA368711394
rs1272444045
3 P>L No ClinGen
TOPMed
rs1322159427
CA368711384
3 P>T No ClinGen
TOPMed
rs1454372987
CA368711402
4 L>F No ClinGen
gnomAD
rs1386701376
CA368711435
6 A>V No ClinGen
gnomAD
CA368711479
rs1218515343
10 M>I No ClinGen
gnomAD
CA368711476
rs1341821064
10 M>R No ClinGen
TOPMed
CA368711493
rs1299107006
11 Q>R No ClinGen
gnomAD
rs1278293518
CA368711507
12 R>H No ClinGen
TOPMed
rs867907415
CA163444871
13 G>W No ClinGen
gnomAD
rs1215863037
CA368711526
14 R>C No ClinGen
gnomAD
CA368711532
rs1199041286
14 R>H No ClinGen
gnomAD
CA163444888
rs1023209207
16 K>R No ClinGen
TOPMed
gnomAD
CA4413384
rs765973508
17 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA368711589
rs1163384777
18 D>E No ClinGen
TOPMed
rs761307074
CA4413386
18 D>N No ClinGen
ExAC
rs1488364495
CA368711592
19 R>W No ClinGen
gnomAD
rs1424337076
CA368711619
21 G>V No ClinGen
TOPMed
CA368711641
rs1158483641
23 I>N No ClinGen
gnomAD
CA368711648
rs1192597769
24 R>W No ClinGen
TOPMed
CA163444932
rs1002390196
25 S>C No ClinGen
Ensembl
rs757494335 26 L>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1430452923
CA368711675
26 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 27 D>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4413442
rs200711890
32 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA368712352
rs1266459293
34 L>F No ClinGen
gnomAD
CA368712386
rs1449755963
35 S>C No ClinGen
gnomAD
CA4413444
rs778703203
36 E>K No ClinGen
ExAC
gnomAD
rs778703203
CA368712398
36 E>Q No ClinGen
ExAC
gnomAD
rs1471979849
CA368712446
38 L>V No ClinGen
TOPMed
gnomAD
rs745574402
CA4413445
40 P>S No ClinGen
ExAC
gnomAD
CA368712598
rs1393586988
45 R>C No ClinGen
gnomAD
rs773384348
CA368712605
45 R>L No ClinGen
ExAC
gnomAD
CA4413451
rs773384348
45 R>P No ClinGen
ExAC
gnomAD
CA368712691
rs1159129086
51 E>Q No ClinGen
TOPMed
gnomAD
rs990057895
CA163445686
53 D>A No ClinGen
TOPMed
COSM744377
rs1341261798
CA368712780
55 S>F lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA4413453
rs771346770
57 N>H No ClinGen
ExAC
gnomAD
CA368712824
rs1586736446
57 N>T No ClinGen
Ensembl
CA368712854
rs1207125477
58 H>P No ClinGen
gnomAD
CA4413455
rs117376828
60 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4413456
rs756456696
61 T>M No ClinGen
ExAC
gnomAD
rs371342787
CA4413459
COSM290324
63 P>L Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4413458
rs371342787
63 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1186419463
CA368712956
63 P>S No ClinGen
gnomAD
rs979789955
CA163445744
64 D>H No ClinGen
TOPMed
rs979789955
CA163445750
64 D>Y No ClinGen
TOPMed
rs1434355842
CA368713001
65 N>S No ClinGen
TOPMed
CA368713007
rs753783952
66 L>M No ClinGen
ExAC
gnomAD
rs753783952
CA4413460
66 L>V No ClinGen
ExAC
gnomAD
CA368713041
rs1169691082
68 L>V No ClinGen
gnomAD
rs757104289
CA4413461
69 S>T No ClinGen
ExAC
gnomAD
rs1586736512
CA368713084
70 H>P No ClinGen
Ensembl
CA368713129
COSM3745437
rs1395607947
72 R>H liver [Cosmic] No ClinGen
cosmic curated
gnomAD
CA368713134
rs1395607947
72 R>L No ClinGen
gnomAD
CA368713165
rs1328486327
74 L>F No ClinGen
gnomAD
CA4413465
rs779659216
75 R>C No ClinGen
ExAC
gnomAD
rs779659216
CA368713186
75 R>G No ClinGen
ExAC
gnomAD
rs1341324971
CA368713194
75 R>H No ClinGen
gnomAD
CA4413467
rs139115115
77 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139115115
CA4413468
COSM1083501
77 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1364274304
CA368713259
78 N>S No ClinGen
TOPMed
rs1483294553
CA368713290
79 N>S No ClinGen
TOPMed
gnomAD
CA368713311
rs1199455001
80 Q>* No ClinGen
gnomAD
CA368713305
rs1199455001
80 Q>K No ClinGen
gnomAD
rs901406802
CA163445862
82 G>E No ClinGen
TOPMed
gnomAD
rs201713941
CA163445870
84 V>G No ClinGen
TOPMed
gnomAD
CA4413470
rs572352133
84 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1389980580
CA368713419
85 T>I No ClinGen
gnomAD
CA4413471
rs774729386
86 A>T No ClinGen
ExAC
gnomAD
TCGA novel 86 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4413473
rs143977682
CA4413472
87 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA163445911
rs913040809
88 C>Y No ClinGen
TOPMed
CA4413474
rs775364198
89 Q>L No ClinGen
ExAC
gnomAD
CA368713525
rs1391070066
91 P>S No ClinGen
gnomAD
CA368713556
rs146433593
92 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4413476
rs764136889
92 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs753792771
CA4413477
92 K>R No ClinGen
ExAC
gnomAD
rs1303313942
CA368713580
94 E>K No ClinGen
gnomAD
rs750262596
CA4413480
96 L>R No ClinGen
ExAC
gnomAD
rs758064778
CA4413481
97 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4413483
rs751231484
100 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA368713701
rs1208988500
101 N>K No ClinGen
gnomAD
CA368713754
rs1463823086
105 T>M No ClinGen
gnomAD
CA4413503
rs199648871
106 V>L No ClinGen
ExAC
gnomAD
CA4413505
rs757696550
107 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA368713821
rs1287210530
107 N>K No ClinGen
gnomAD
rs757696550
CA4413504
107 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA368713827
rs1370683612
108 D>Y No ClinGen
gnomAD
CA4413506
rs746430950
110 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA163446110
rs367718460
112 V>I No ClinGen
ESP
rs1326543810
CA368713898
113 S>C No ClinGen
TOPMed
CA163446111
rs980198446
114 F>S No ClinGen
TOPMed
TCGA novel 115 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1321504989
CA368713927
115 L>P No ClinGen
gnomAD
rs1321504989
CA368713928
115 L>R No ClinGen
gnomAD
CA368713938
rs1483697145
116 L>Q No ClinGen
TOPMed
gnomAD
CA368713935
rs747209954
116 L>V No ClinGen
ExAC
gnomAD
CA368713945
rs1249753194
117 P>S No ClinGen
gnomAD
CA4413511
rs776711578
118 T>A No ClinGen
ExAC
gnomAD
rs200399227
CA4413512
118 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368713964
rs1470137649
119 L>I No ClinGen
TOPMed
rs770823521
CA4413515
120 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs766162260
CA4413516
120 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs766162260
CA4413517
120 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs767082952
CA4413519
123 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA368714033
rs1339006507
124 G>S No ClinGen
TOPMed
CA368714056
rs1284143028
125 K>R No ClinGen
gnomAD
rs1295737558
CA368714069
126 D>G No ClinGen
TOPMed
CA368714072
rs1295737558
126 D>V No ClinGen
TOPMed
rs745680542
CA163446246
127 A>T No ClinGen
Ensembl
CA4413520
rs752415055
127 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA163446272
rs898147005
128 S>F No ClinGen
Ensembl
rs986641243
CA368714106
129 S>* No ClinGen
TOPMed
gnomAD
CA163446281
rs986641243
129 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4413522
rs763641989
130 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1330348462
CA830694079
131 Y>* No ClinGen
TOPMed
rs750898527
CA4413523
131 Y>C No ClinGen
ExAC
gnomAD
rs1275510009
CA368714148
133 Q>* No ClinGen
gnomAD
rs776457074
CA163446307
134 V>M No ClinGen
Ensembl
rs911322445
CA163446315
135 E>G No ClinGen
TOPMed
rs1563653330
CA368714232
139 R>Q No ClinGen
Ensembl
rs77479583
CA4413525
139 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751880306
CA4413526
COSM598050
140 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1181492303
CA368714279
143 S>G No ClinGen
gnomAD
rs771112724
CA4413554
146 T>K No ClinGen
ExAC
gnomAD
rs1442668983
CA368715694
149 W>G No ClinGen
TOPMed
rs1249878121
CA368715702
150 E>K No ClinGen
TOPMed
rs77359539
CA163447539
153 M>R No ClinGen
TOPMed
CA368715729
rs77359539
153 M>T No ClinGen
TOPMed
rs914045179
CA163447521
153 M>V No ClinGen
TOPMed
CA4413555
rs542708497
154 A>V No ClinGen
ExAC
gnomAD
CA4413557
rs202069180
155 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372583053
CA4413556
155 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4413558
rs143788158
156 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368715750
rs1330777585
157 G>D No ClinGen
gnomAD
rs746611053
CA4413559
159 E>K No ClinGen
ExAC
gnomAD
rs1157150803
CA368715772
160 E>D No ClinGen
gnomAD
rs1393354817
CA368715797
164 K>E No ClinGen
gnomAD
CA4413560
rs768310536
164 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA4413562
rs141905334
166 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs375573347
CA4413564
167 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411716337
CA368715817
167 A>P No ClinGen
gnomAD
rs375573347
CA4413563
167 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753130559
CA4413567
172 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368715855
COSM1446884
rs1302284212
173 A>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA368715877
rs1290924891
176 D>V No ClinGen
gnomAD
CA368715882
rs1563654506
177 V>I No ClinGen
Ensembl
CA4413570
rs570334710
178 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4413571
rs757260413
178 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4413572
rs757260413
178 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA368715898
rs200102694
179 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368715892
rs1427349421
179 Y>H No ClinGen
TOPMed
rs758350510
CA4413574
CA4413575
180 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs768504896
CA4413577
182 E>* No ClinGen
ExAC
CA368715917
rs1586738958
183 S>A No ClinGen
Ensembl
CA163447679
rs11538920
183 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4413578
rs11538920
183 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4413580
rs560973225
185 S>R No ClinGen
ExAC
gnomAD
CA368715926
rs1308666984
185 S>R No ClinGen
gnomAD
rs772802522
CA4413581
186 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA368715941
rs1315101680
187 F>L No ClinGen
gnomAD
rs760062101
CA4413583
189 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA368715959
rs1267794288
189 Q>P No ClinGen
TOPMed
CA4413584
rs768147449
191 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA368715972
rs768147449
191 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA368715971
rs1314161074
191 R>W No ClinGen
TOPMed
gnomAD
rs1331185835
CA368715984
192 V>M No ClinGen
TOPMed
gnomAD
rs966938413
CA163448063
193 R>G No ClinGen
TOPMed
gnomAD
rs75691611
CA368715991
193 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75691611
CA4413613
193 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368715990
rs966938413
193 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs763006197
CA4413614
195 I>L No ClinGen
ExAC
gnomAD
rs1358630240
CA368716012
196 S>C No ClinGen
TOPMed
rs1246490265
CA368716009
196 S>P No ClinGen
TOPMed
CA368716021
rs1485150573
197 E>D No ClinGen
gnomAD
CA163448086
rs912025356
198 E>* No ClinGen
TOPMed
CA368716027
rs1265556743
198 E>D No ClinGen
gnomAD
rs766492912
CA4413615
199 L>R No ClinGen
ExAC
rs1586739333
CA368716038
200 V>G No ClinGen
Ensembl
COSM3831479
CA368716042
rs1586739336
201 A>V breast [Cosmic] No ClinGen
cosmic curated
Ensembl
rs150636663
CA368716046
202 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150636663
CA4413617
COSM1178977
202 A>T prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368716049
rs1197424828
202 A>V No ClinGen
gnomAD
CA163448120
rs1048034404
203 S>N No ClinGen
TOPMed
rs1159503607
CA368716059
204 R>K No ClinGen
TOPMed
gnomAD
CA163448148
rs967791669
208 Q>R No ClinGen
Ensembl
rs1366182970
CA368716092
209 K>E No ClinGen
gnomAD
rs755933895
CA4413621
210 A>S No ClinGen
ExAC
gnomAD
CA368716120
rs1280853788
213 P>T No ClinGen
gnomAD
rs1306665029
CA368716138
215 K>M No ClinGen
TOPMed
gnomAD
CA4413623
rs201552506
215 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1475749213
CA368716144
216 P>R No ClinGen
TOPMed
rs770536890
CA4413624
216 P>S No ClinGen
ExAC
gnomAD
CA368716149
rs1266524918
217 P>Q No ClinGen
gnomAD
rs1490341830
CA368716152
218 E>K No ClinGen
gnomAD
CA163448209
rs986744469
220 G>R No ClinGen
TOPMed
gnomAD
CA4413626
rs747466458
221 A>T No ClinGen
ExAC
rs769215241
CA4413627
222 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs769215241
CA368716180
222 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1490126942
CA368716185
223 H>P No ClinGen
TOPMed
CA368716183
rs1368040110
223 H>Y No ClinGen
gnomAD
rs35310665
CA4413628
224 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368716198
rs1417070845
225 P>S No ClinGen
gnomAD
CA163448264
rs529846798
226 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs530661786
CA163448269
226 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA368716234
rs1385839265
229 L>Q No ClinGen
TOPMed
CA4413644
rs374518114
230 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147219459
CA368716264
234 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147219459
CA4413647
234 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781715136
CA4413646
234 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA368716306
rs771146660
237 D>E No ClinGen
ExAC
TOPMed
rs749456596
CA4413650
237 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149295133
CA4413653
238 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1421915841
CA368716334
239 P>L No ClinGen
TOPMed
gnomAD
CA4413655
rs555553995
239 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4413657
rs368660562
241 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1327486373
CA368716376
243 S>P No ClinGen
gnomAD
CA4413658
rs763929295
244 P>S No ClinGen
ExAC
gnomAD
rs557613738
CA4413660
247 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753697304
CA4413659
247 R>W Variant assessed as Somatic; 0.0002108 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs937924960
CA163448557
248 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1321732122
CA368716483
250 A>V No ClinGen
gnomAD
rs750100070
CA4413662
252 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs750100070
CA4413663
252 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs575719006
CA4413665
253 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4413667
rs778047531
254 A>S No ClinGen
ExAC
gnomAD
CA4413668
rs749648883
254 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs774537250
CA4413670
256 V>A No ClinGen
ExAC
gnomAD
rs1000515753
CA163448636
256 V>M No ClinGen
Ensembl
CA4413673
rs746121183
258 G>D No ClinGen
ExAC
gnomAD
rs1586739734
CA368716605
260 P>R No ClinGen
Ensembl
CA163448669
rs902588150
261 V>L No ClinGen
TOPMed
rs772153478
CA4413674
262 A>V No ClinGen
ExAC
rs545896317
CA4413675
263 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA368716650
rs1343820858
264 S>F No ClinGen
gnomAD
rs112002983
CA4413678
265 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4413677
COSM3949666
rs764127576
265 D>N lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA163448730
rs111757318
268 Q>L No ClinGen
Ensembl
CA163448714
rs111757318
268 Q>P No ClinGen
Ensembl
rs1245369402
CA368716784
270 A>D No ClinGen
gnomAD
CA368716778
rs1180055821
270 A>T No ClinGen
gnomAD
rs1383986891
CA368716822
273 L>V No ClinGen
gnomAD
rs144573118
CA4413709
274 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368716831
rs1431719397
274 E>K No ClinGen
gnomAD
CA368716851
rs750754791
275 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs758860057
CA4413712
275 P>H No ClinGen
ExAC
gnomAD
rs750754791
CA368716853
275 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4413711
rs750754791
275 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1384727909
CA368716872
277 H>Y No ClinGen
gnomAD
CA4413714
rs747282451
278 F>L No ClinGen
ExAC
gnomAD
CA4413716
rs781450486
279 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA4413715
rs148425285
279 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1228931373
CA368716912
280 Q>* No ClinGen
gnomAD
CA368716937
rs1251416337
281 C>F No ClinGen
gnomAD
rs1193722997
CA368716956
282 H>L No ClinGen
gnomAD
CA368717067
rs769859590
286 N>K No ClinGen
ExAC
gnomAD
CA4413717
rs748048714
286 N>S No ClinGen
ExAC
gnomAD
rs1440763156
CA368717082
287 S>N No ClinGen
TOPMed
rs1372587872
CA368717101
288 P>L No ClinGen
gnomAD
CA163448920
rs372762588
288 P>S No ClinGen
ESP
gnomAD
CA4413719
rs570902848
289 Q>* No ClinGen
1000Genomes
ExAC
rs1407185666
CA368717198
292 E>D No ClinGen
TOPMed
gnomAD
rs370482367
CA4413721
292 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1421319554
CA368718299
296 W>R No ClinGen
TOPMed
rs1586740010
CA368718324
297 A>D No ClinGen
Ensembl
rs1335884705
CA368718351
299 A>T No ClinGen
gnomAD
rs773848190
CA368718373
300 F>L No ClinGen
ExAC
gnomAD
CA163451089
rs1040788149
301 E>G No ClinGen
TOPMed
CA368718375
rs1295592224
301 E>K No ClinGen
gnomAD
COSM744376
rs766967262
CA4413725
302 P>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs759222684
CA4413724
302 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs765655034
CA4413728
303 A>G No ClinGen
ExAC
gnomAD
rs1203394041
CA368718443
303 A>P No ClinGen
TOPMed
gnomAD
CA368718445
rs1203394041
303 A>S No ClinGen
TOPMed
gnomAD
CA368718447
rs765655034
303 A>V No ClinGen
ExAC
gnomAD
rs1206239968
CA368718460
304 W>C No ClinGen
gnomAD
rs750992768
CA4413729
304 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1261716822
CA368718467
305 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4413730
rs758664434
306 E>K No ClinGen
ExAC
gnomAD
rs751985953
CA4413753
307 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs766806541
CA4413731
CA368718501
307 G>R No ClinGen
ExAC
gnomAD
CA368718571
rs1297906013
308 A>S No ClinGen
gnomAD
CA368718568
rs1297906013
308 A>T No ClinGen
gnomAD
CA368718575
rs1375153004
308 A>V No ClinGen
TOPMed
gnomAD
rs558329285
CA163451444
309 T>I No ClinGen
1000Genomes
COSM1214038
rs1226641572
CA368718636
313 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs756118406
CA4413757
315 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1243643116
CA368718753
317 G>D No ClinGen
gnomAD
rs979331933
CA163451499
317 G>S No ClinGen
TOPMed
gnomAD
rs1179557588
CA368718757
318 G>R No ClinGen
TOPMed
gnomAD
CA368718763
rs1179557588
318 G>W No ClinGen
TOPMed
gnomAD
rs1586740317
CA368718781
319 E>G No ClinGen
Ensembl
TCGA novel 319 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368718804
rs1169306137
320 A>V No ClinGen
TOPMed
gnomAD
rs1471142179
CA368718807
CA368718806
321 V>L No ClinGen
gnomAD
CA163451522
rs572894856
322 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs572894856
CA4413762
322 C>S No ClinGen
1000Genomes
ExAC
gnomAD
CA368718814
rs1382624077
322 C>Y No ClinGen
gnomAD
CA163451534
rs866298455
323 V>I No ClinGen
TOPMed
gnomAD
rs866298455
CA368718830
323 V>L No ClinGen
TOPMed
gnomAD
rs746712396
CA368718862
324 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs894882359
CA163451541
324 I>T No ClinGen
TOPMed
CA4413764
rs775099117
324 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1325977545
CA368718905
326 C>Y No ClinGen
gnomAD
CA368718933
rs1205289989
327 Q>* No ClinGen
gnomAD
CA4413766
rs539926870
328 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368718979
rs539926870
328 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749017286
CA163451549
328 T>S No ClinGen
TOPMed
gnomAD
CA163451593
rs967968057
329 G>S No ClinGen
TOPMed
rs999412968
CA163451602
330 I>F No ClinGen
TOPMed
gnomAD
CA368719033
CA368719037
rs371074849
331 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4413769
rs371074849
331 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368719059
rs1563655684
332 L>F No ClinGen
Ensembl
CA4413770
rs375633907
332 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 333 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4413771
rs759957740
333 H>Q No ClinGen
ExAC
rs1413182975
CA368719082
333 H>Y No ClinGen
gnomAD
CA163451699
rs143862915
334 K>E No ClinGen
ESP
TOPMed
gnomAD
rs1218934500
CA368719129
335 Y>D No ClinGen
TOPMed
CA4413772
rs768036912
336 K>R No ClinGen
ExAC
CA368719190
rs1296459750
337 A>P No ClinGen
gnomAD
CA368719209
rs1347567402
337 A>V No ClinGen
gnomAD
rs1283612812
CA368719232
338 P>L No ClinGen
gnomAD
CA368719223
rs1224372270
338 P>S No ClinGen
gnomAD
rs573274500
CA4413774
339 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4413776
rs372295492
340 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1215198553
CA368719270
340 E>V No ClinGen
TOPMed
gnomAD
rs751373991
CA4413801
341 E>A No ClinGen
ExAC
gnomAD
rs984806972
CA368719386
341 E>D No ClinGen
TOPMed
CA368719437
rs1197188798
343 F>S No ClinGen
gnomAD
CA4413804
rs747796427
346 A>P No ClinGen
ExAC
gnomAD
rs1586740634
CA368719578
348 T>P No ClinGen
Ensembl
rs777449211
CA4413806
349 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs746321891
CA4413807
349 A>V No ClinGen
ExAC
gnomAD
CA163452130
rs1048238984
350 L>V No ClinGen
TOPMed
CA368719698
rs1316336664
353 V>F No ClinGen
TOPMed
CA368719695
rs1316336664
353 V>I No ClinGen
TOPMed
CA4413809
rs201003437
361 R>C No ClinGen
ExAC
gnomAD
rs761091580
CA4413810
361 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA368719940
rs1586740671
362 W>C No ClinGen
Ensembl
CA368719922
rs1563655923
362 W>R No ClinGen
Ensembl
CA4413812
rs776877482
363 S>C No ClinGen
ExAC
gnomAD
CA4413813
rs762049970
363 S>N No ClinGen
ExAC
gnomAD
rs1292882254
CA368719986
364 V>M No ClinGen
TOPMed
CA368720024
rs1311307667
365 L>V No ClinGen
gnomAD
CA368720042
rs1229053504
366 A>T No ClinGen
gnomAD
rs888310940
CA163452191
366 A>V No ClinGen
gnomAD
rs773290868
CA4413815
368 A>V No ClinGen
ExAC
gnomAD
rs762809716
CA4413816
370 L>P No ClinGen
ExAC
gnomAD
rs751501194
CA163452224
371 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs751501194
CA4413818
371 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs751501194
CA4413819
371 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs151324218
CA4413817
371 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1434119810
CA368720182
372 G>S No ClinGen
TOPMed
rs767248735
CA4413820
374 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA4413822
rs372063952
375 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4413821
rs752346910
375 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs777353850
CA4413823
376 L>P No ClinGen
ExAC
gnomAD
rs780584773
CA4413826
378 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs756888389
CA4413825
378 H>Y No ClinGen
ExAC
gnomAD
rs769022777
CA4413828
379 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4413829
rs376560819
380 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4413830
rs376560819
380 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763006469
CA368720449
382 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4413833
rs763006469
382 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA4413834
rs766409296
383 F>L No ClinGen
ExAC
gnomAD
CA4413836
rs759416316
386 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA368720566
rs1233043997
387 V>I No ClinGen
gnomAD
TCGA novel 387 V>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767286922
CA4413838
389 R>* No ClinGen
ExAC
gnomAD
CA4413837
rs767286922
389 R>G No ClinGen
ExAC
gnomAD
rs756042964
CA4413840
389 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1446886
rs756042964
CA4413839
389 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs199640101
CA4413841
390 A>S No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs199640101
CA163452345
390 A>T No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs1487394326
CA368720660
392 K>E No ClinGen
gnomAD
rs1433534747
CA368720700
CA368720698
393 K>N No ClinGen
gnomAD
CA163452362
rs947785313
393 K>R No ClinGen
TOPMed
gnomAD
rs947785313
CA368720692
393 K>T No ClinGen
TOPMed
gnomAD
rs1175142418
CA368720706
394 A>P No ClinGen
gnomAD
CA368720708
rs1175142418
394 A>S No ClinGen
gnomAD
CA368720722
rs1375821269
395 I>F No ClinGen
gnomAD
CA368720720
rs1375821269
395 I>V No ClinGen
gnomAD
CA368720737
rs1158653902
396 A>T No ClinGen
gnomAD
rs1345793699
CA368720846
401 S>N No ClinGen
gnomAD
CA4413843
rs778313861
402 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs747497615
CA368720890
403 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs747497615
CA4413844
403 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs201885983
CA368720924
404 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755451370
CA4413845
404 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs201914011
CA368720951
CA4413848
405 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs535806746
CA4413847
405 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368720958
rs1488296900
406 T>A No ClinGen
gnomAD
rs1179162564
CA368720991
407 H>Q No ClinGen
gnomAD
CA4413849
rs372243462
407 H>R No ClinGen
ESP
ExAC
gnomAD
CA368720975
rs1265004964
407 H>Y No ClinGen
TOPMed
gnomAD
rs749544550
CA4413850
408 L>F No ClinGen
ExAC
gnomAD
rs140653534 410 T>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA4413877
COSM3698013
rs760721958
410 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA4413880
rs761459558
413 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs762347199
CA4413883
416 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs750146673
COSM1214040
CA4413882
416 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1273729005
CA368721431
418 I>V No ClinGen
TOPMed
rs1563656513
CA368721500
422 I>V No ClinGen
Ensembl
CA4413887
rs145369828
423 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368721528
rs1341294266
424 V>L No ClinGen
gnomAD
CA368721540
rs1276619500
425 P>L No ClinGen
TOPMed
gnomAD
rs201681487
CA368721536
425 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4413889
rs201681487
425 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4413891
rs757701941
427 Q>L No ClinGen
ExAC
gnomAD
rs746146294
CA4413893
428 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA4413896
rs142392925
429 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772001352
CA4413894
429 Y>C No ClinGen
ExAC
gnomAD
CA4413897
rs376949005
430 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs567061763
CA4413898
431 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1456641260
CA368721658
432 Q>* No ClinGen
TOPMed
CA4413899
rs747880474
432 Q>R No ClinGen
ExAC
gnomAD
CA4413928
rs370005669
437 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368721839
rs765458287
438 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA4413929
rs765458287
438 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA163453681
rs544990990
440 D>E No ClinGen
1000Genomes
rs769341585
CA163453658
440 D>H No ClinGen
ExAC
gnomAD
CA4413931
rs769341585
440 D>N No ClinGen
ExAC
gnomAD
rs202106137
CA4413932
441 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377312037
CA4413935
COSM1083504
447 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781364822
CA4413936
447 R>H No ClinGen
ExAC
gnomAD
COSM1214041
rs749067680
CA4413940
452 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1445956311
CA368722052
452 A>V No ClinGen
gnomAD
rs1341724854
CA368722056
453 S>P No ClinGen
TOPMed
gnomAD
CA368722072
rs1244950835
454 C>R No ClinGen
gnomAD
rs778503361
CA4413943
455 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs778503361
CA4413942
455 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4413946
rs762163297
457 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs770332230
CA4413947
458 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4413948
rs542888497
458 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA368722147
rs542888497
458 R>L No ClinGen
1000Genomes
ExAC
gnomAD
rs372834127
CA163453846
459 L>P No ClinGen
ESP
TOPMed
rs763389210
CA4413949
460 L>P No ClinGen
ExAC
gnomAD
CA368722159
rs1366887176
461 A>T No ClinGen
gnomAD
CA368722176
rs1464957283
462 G>D No ClinGen
gnomAD
CA4413953
rs759851428
462 G>S No ClinGen
ExAC
gnomAD
CA368722188
rs1484621352
463 C>S No ClinGen
TOPMed
CA163453892
rs957285968
463 C>W No ClinGen
TOPMed
gnomAD
rs1404320320
CA368722191
463 C>Y No ClinGen
gnomAD
rs1332961523
CA368722199
464 E>K No ClinGen
TOPMed
gnomAD
rs374902207
CA4413954
465 G>D No ClinGen
ESP
ExAC
gnomAD
rs1554580139
CA4413958
466 G>S No ClinGen
Ensembl
CA4413960
rs756204371
468 C>Y No ClinGen
ExAC
gnomAD
rs1291804742
CA368722295
470 W>* No ClinGen
TOPMed
rs1220853858
CA368722306
471 D>Y No ClinGen
TOPMed
CA163453932
CA368722320
rs757003383
472 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA4413964
rs757003383
472 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA368722335
rs201589745
473 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4413966
rs201589745
473 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4413965
rs778697756
473 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1262799064
CA368722351
474 L>P No ClinGen
gnomAD
CA4413967
rs771764805
474 L>V No ClinGen
ExAC
gnomAD
rs1457579540
CA368722353
475 D>H No ClinGen
TOPMed
CA368722371
rs1379250292
476 Q>E No ClinGen
gnomAD
CA163453968
rs370868394
477 P>S No ClinGen
gnomAD
rs370868394
CA368722385
477 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4413972
rs763587231
478 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA4414013
CA368723329
rs772429333
481 R>S No ClinGen
ExAC
gnomAD
rs774859657
CA4413974
481 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4414014
rs775728037
482 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1426233871
CA368723346
483 C>R No ClinGen
TOPMed
gnomAD
rs747185253
CA4414015
483 C>Y No ClinGen
ExAC
gnomAD
CA368723363
rs1170566528
484 E>K No ClinGen
gnomAD
CA368723378
rs1450238014
485 V>M No ClinGen
gnomAD
CA368723395
rs1303510765
486 E>V No ClinGen
gnomAD
rs527362228
CA163457104
488 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4414018
rs527362228
488 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1228710770
CA368723457
490 S>C No ClinGen
TOPMed
CA368723451
rs1272152174
490 S>P No ClinGen
gnomAD
CA163457149
rs879939583
491 E>G No ClinGen
TOPMed
gnomAD
rs561603036
CA4414020
491 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA368723463
rs561603036
491 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs376086325
CA368723482
492 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM150362
rs1237555697
CA368723475
492 G>C stomach [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA4414021
rs376086325
492 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368723505
rs146629843
494 E>* No ClinGen
1000Genomes
ExAC
gnomAD
rs146629843
CA4414023
494 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs146629843
CA368723504
494 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs113220559
CA4414025
495 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4414024
rs113220559
RCV000952539
495 A>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4414026
rs767255596
495 A>V No ClinGen
ExAC
gnomAD
rs1416657114
CA368723533
496 S>F No ClinGen
gnomAD
CA4414027
rs752435769
497 G>A No ClinGen
ExAC
gnomAD
rs141553698
CA4414029
498 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA163457248
rs147046550
498 R>P No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs147046550
CA4414030
498 R>Q No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs141553698
CA4414028
498 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA163457269
rs1056146001
499 R>G No ClinGen
Ensembl
CA368723573
rs1300241009
499 R>K No ClinGen
gnomAD
rs1341394819
CA368723598
500 V>L No ClinGen
gnomAD
CA4414032
rs750880780
501 D>G No ClinGen
ExAC
gnomAD
CA368723725
rs1269393410
504 A>V No ClinGen
gnomAD
rs758830295
CA4414033
505 F>L No ClinGen
ExAC
gnomAD
rs1220869006
CA368723785
506 V>G No ClinGen
gnomAD
CA163457316
rs1005236323
507 N>S No ClinGen
TOPMed
gnomAD
rs1279316690
CA368723794
507 N>Y No ClinGen
gnomAD
CA368723856
rs1198117332
509 D>N No ClinGen
TOPMed
rs780681056
CA4414034
510 I>V No ClinGen
ExAC
gnomAD
CA368723921
rs1240710930
511 V>A No ClinGen
gnomAD
CA368723911
COSM1214039
rs1193308240
511 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA368725327
rs1272954186
513 S>F No ClinGen
TOPMed
gnomAD
rs775794017
CA163459045
514 K>R No ClinGen
Ensembl
rs1201059781
CA368725343
515 G>E No ClinGen
gnomAD
rs993526415
CA163459071
COSM1446889
516 S>R large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA163459101
rs947710319
517 G>S No ClinGen
TOPMed
gnomAD
CA368725403
rs1314946718
519 G>A No ClinGen
TOPMed
rs367887639
CA4414055
520 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367887639
CA368725406
520 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1209573737
CA368725428
521 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 522 C>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1390263579
CA368725459
523 L>P No ClinGen
gnomAD
CA368725465
rs1341822566
524 W>* No ClinGen
TOPMed
gnomAD
CA368725523
rs1292360770
527 R>G No ClinGen
gnomAD
rs1333123359
CA368725533
527 R>K No ClinGen
gnomAD
rs1220891433
CA368725544
528 Q>* No ClinGen
gnomAD
rs1220891433
CA368725547
528 Q>E No ClinGen
gnomAD
CA4414058
rs368086160
529 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs774114154
CA368725584
530 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA368725588
rs200423098
530 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4414064
CA163459164
rs200423098
530 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs539175596
CA4414061
530 W>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774114154
CA4414063
530 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA368725574
rs539175596
530 W>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774114154
CA4414062
530 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA368725606
rs1443133003
531 G>E No ClinGen
gnomAD
rs775426091
CA4414065
CA4414066
531 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs775426091
CA368725599
531 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA368725616
rs776399003
532 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs1474080229
CA368725619
532 G>D No ClinGen
gnomAD
CA368725614
rs776399003
532 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4414068
rs776399003
532 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1474080229
CA368725623
532 G>V No ClinGen
gnomAD
CA4414071
rs557391679
533 R>L No ClinGen
1000Genomes
ExAC
gnomAD
rs557391679
CA4414070
533 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs761200453
CA4414069
533 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs767803214
CA4414073
534 G>A No ClinGen
ExAC
gnomAD
rs767803214
CA368725650
534 G>D No ClinGen
ExAC
gnomAD
rs755491507
CA4414072
534 G>S No ClinGen
ExAC
gnomAD
rs753056744
CA4414074
535 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA4414076
rs756549538
535 S>R No ClinGen
ExAC
gnomAD
CA4414078
rs757234013
536 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA4414077
rs749553364
536 Q>K No ClinGen
ExAC
CA368725703
rs1279251513
537 S>C No ClinGen
TOPMed
gnomAD
CA368725705
rs1279251513
537 S>F No ClinGen
TOPMed
gnomAD
CA4414080
rs145790713
538 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775622533
CA4414082
541 V>G No ClinGen
ExAC
gnomAD
TCGA novel 542 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1210292387
CA368725764
542 V>M No ClinGen
gnomAD
rs1563658939
CA368725781
543 V>I No ClinGen
Ensembl
CA4414084
rs372186219
545 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4414085
rs372186219
545 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4414088
rs202055278
546 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4414087
rs764596350
546 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA368725853
rs1431259829
548 Q>* No ClinGen
TOPMed
rs1391164231
CA368725857
548 Q>R No ClinGen
TOPMed
rs1172504434
CA368725864
549 W>* No ClinGen
gnomAD
CA163459372
rs375511324
549 W>C No ClinGen
ESP
CA4414090
rs554936253
550 S>L Variant assessed as Somatic; 5.328e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA368725873
rs554936253
550 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4414093
rs764540681
552 T>A No ClinGen
ExAC
gnomAD
rs757503363
CA4414095
553 E>K No ClinGen
ExAC
gnomAD
CA368725899
rs1356027610
555 A>P No ClinGen
gnomAD
CA368725901
rs1356027610
555 A>T No ClinGen
gnomAD
CA368725920
rs1260413561
557 F>L No ClinGen
gnomAD
CA4414099
rs150762600
558 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4414098
rs758603982
558 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA368725924
rs150762600
558 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4414105
rs747690267
561 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs747690267
CA4414104
561 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA163459468
rs924972310
562 C>Y No ClinGen
TOPMed
gnomAD
CA4414108
rs770459556
563 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA368725951
rs770459556
563 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1428783000
CA368725972
564 D>E No ClinGen
gnomAD
CA4414148
rs748871732
565 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs569362171
CA4414150
566 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs142410118
CA4414149
566 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368725987
rs1413873679
567 I>F No ClinGen
gnomAD
TCGA novel 567 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4414152
rs771519188
567 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA368725999
rs1215075507
569 L>F No ClinGen
gnomAD
TCGA novel 569 L>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4414154
rs201275039
569 L>R No ClinGen
1000Genomes
ExAC
gnomAD
rs557927414
CA4414156
570 C>F No ClinGen
1000Genomes
ExAC
gnomAD
CA163459770
rs145973282
570 C>R No ClinGen
ESP
TOPMed
gnomAD
CA4414158
rs773720792
572 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA4414157
rs773720792
572 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA368726020
rs1563659273
573 E>K No ClinGen
Ensembl
rs1265792257
CA368726028
574 E>K No ClinGen
gnomAD
CA368726039
rs766694949
575 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA4414161
rs766694949
575 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA4414162
rs774487177
576 N>D No ClinGen
ExAC
gnomAD
CA368726048
rs143165955
COSM1622141
577 V>L liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143165955
CA4414163
577 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752620718
CA4414165
578 W>* No ClinGen
ExAC
gnomAD
CA368726056
rs1375002144
578 W>* No ClinGen
gnomAD
CA368726063
rs1300343517
579 L>F No ClinGen
gnomAD
CA4414168
rs144458335
580 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs10249943
CA4414172
581 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4414170
rs757089708
581 D>G No ClinGen
ExAC
gnomAD
CA4414169
rs753613507
581 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs767161528
CA4414174
582 V>F No ClinGen
ExAC
gnomAD
CA4414173
rs767161528
COSM1330210
582 V>I ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA4414175
rs748602816
583 S>R No ClinGen
ExAC
gnomAD
rs770420634
CA4414176
585 I>M No ClinGen
ExAC
gnomAD
rs774107879
CA163459911
585 I>V No ClinGen
Ensembl
rs1452325826
CA368726105
586 L>Q No ClinGen
TOPMed
CA4414177
rs773914956
589 P>L No ClinGen
ExAC
gnomAD
CA368726126
rs1489755477
589 P>S No ClinGen
gnomAD
rs771241277
CA4414179
590 P>R No ClinGen
ExAC
gnomAD
rs749651123
CA4414178
590 P>S No ClinGen
ExAC
gnomAD
CA4414180
rs537769035
592 L>M No ClinGen
1000Genomes
ExAC
gnomAD
rs148981077
CA4414183
593 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4414182
rs201290252
593 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201290252
CA4414181
593 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368726160
rs1586745957
596 L>P No ClinGen
Ensembl
rs1369310153
CA368726166
597 Q>R No ClinGen
TOPMed
CA4414189
rs757003570
598 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA368726170
rs1563659434
598 A>T No ClinGen
Ensembl
CA368726174
rs757003570
598 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4414191
rs750036357
600 T>A No ClinGen
ExAC
gnomAD
CA368726184
rs757995965
600 T>I No ClinGen
ExAC
gnomAD
CA4414192
rs757995965
600 T>K No ClinGen
ExAC
gnomAD
CA368726189
rs1190354754
601 Q>R No ClinGen
TOPMed
rs144678334
CA368726211
603 L>M No ClinGen
ESP
ExAC
gnomAD
rs144678334
CA4414238
603 L>V No ClinGen
ESP
ExAC
gnomAD
CA368726224
rs1586746300
605 W>R No ClinGen
Ensembl
CA4414241
rs147900518
607 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA830703567
rs1253473823
609 W>* No ClinGen
TOPMed
CA4414243
rs780413395
609 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA368726254
rs1586746322
609 W>L No ClinGen
Ensembl
rs758639657
CA4414242
609 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA163460422
rs916318558
610 A>S No ClinGen
TOPMed
gnomAD
rs200710432
CA4414244
610 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs755193043
CA4414245
611 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA368726267
rs1247956420
612 G>S No ClinGen
gnomAD
CA368726275
rs1311955066
613 Q>* No ClinGen
gnomAD
CA4414246
rs781455530
613 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs369747780
CA4414247
614 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs979096454
CA163460435
617 K>N No ClinGen
TOPMed
TCGA novel 618 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4414253
rs549030610
619 M>T No ClinGen
1000Genomes
ExAC
TOPMed
rs759460734
CA4414254
620 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs767255967
CA4414256
621 N>T No ClinGen
ExAC
gnomAD
CA368726335
rs1415293052
622 T>I No ClinGen
gnomAD
rs1446362200
CA368726339
623 V>A No ClinGen
gnomAD
rs775244670
CA4414257
623 V>L No ClinGen
ExAC
gnomAD
CA4414258
rs191022008
624 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763680178
CA4414259
625 A>S No ClinGen
ExAC
gnomAD
rs763680178
CA4414260
625 A>T No ClinGen
ExAC
gnomAD
rs758912423
CA4414262
626 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA4414261
rs758912423
626 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA4414264
rs755389275
628 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA4414265
rs781361448
628 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs748433864
CA4414266
629 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs756100065
CA4414267
630 T>I No ClinGen
ExAC
gnomAD
CA368726379
rs1586746447
631 Y>H No ClinGen
Ensembl
CA368726388
rs1371776557
632 L>F No ClinGen
gnomAD
rs889192109
CA163460634
634 A>D No ClinGen
TOPMed
rs150396748
CA4414271
COSM199901
634 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA163460658
rs745627593
635 L>P No ClinGen
ExAC
CA4414272
rs745627593
635 L>Q No ClinGen
ExAC
CA368726403
rs1240839730
635 L>V No ClinGen
gnomAD
rs772019011
CA4414273
636 T>M No ClinGen
ExAC
gnomAD
rs760386246
CA4414275
638 S>A No ClinGen
ExAC
gnomAD
CA4414276
rs763448049
638 S>Y No ClinGen
ExAC
gnomAD
CA368726422
rs1192494910
639 N>H No ClinGen
gnomAD
rs761375055
CA4414278
639 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs767947918
CA4414282
641 V>A No ClinGen
ExAC
gnomAD
CA4414281
rs376230863
641 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 642 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368726450
rs1307885949
643 I>T No ClinGen
TOPMed
CA368726459
rs1291863826
644 W>* No ClinGen
gnomAD
rs1586746538
CA368726455
644 W>R No ClinGen
Ensembl
rs756353133
CA4414286
645 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1392167880
CA368726469
646 R>K No ClinGen
gnomAD
CA368726470
rs1392167880
646 R>T No ClinGen
gnomAD
rs1277527121
CA368726480
647 M>I No ClinGen
TOPMed
rs757453164
CA4414290
648 M>Q No ClinGen
ExAC
TOPMed
gnomAD
CA368726489
rs148895778
648 M>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q9UFC0

7 regional properties for Q9UFC0

Type Name Position InterPro Accession
repeat Leucine-rich repeat 48 - 69 IPR001611
repeat WD40 repeat 272 - 325 IPR001680-1
repeat WD40 repeat 381 - 422 IPR001680-2
repeat WD40 repeat 540 - 581 IPR001680-3
repeat Leucine-rich repeat, typical subtype 46 - 69 IPR003591
conserved_site WD40 repeat, conserved site 408 - 422 IPR019775
repeat Leucine rich repeat 4 47 - 87 IPR025875

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Chromosome, centromere
  • Chromosome, telomere
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Chromosome, centromere, kinetochore
  • Localizes to heterochromatin during G1 phase
  • Restricted to centromeres or telomeres as cells progress though S phase
  • When cells enter mitosis, relocalizes to centromeres
  • Recruitment to pericentric heterochromatin largely depends on the presence of H3K9me3
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
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.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
kinetochore A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
microtubule organizing center An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
nuclear origin of replication recognition complex A multisubunit complex that is located at the replication origins of a chromosome in the nucleus.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.
pericentric heterochromatin Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3).

3 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
methyl-CpG binding Binding to a methylated cytosine/guanine dinucleotide.
methylated histone binding Binding to a histone in which a residue has been modified by methylation.

3 GO annotations of biological process

Name Definition
chromatin organization The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
DNA replication initiation The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate.
establishment of protein localization to chromatin The directed movement of a protein to a part of a chromosome that is organized into chromatin.

36 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3MHH9 ECM2 Extracellular matrix protein 2 Bos taurus (Bovine) PR
P58874 OPTC Opticin Bos taurus (Bovine) PR
Q24K06 LRRC10 Leucine-rich repeat-containing protein 10 Bos taurus (Bovine) PR
Q9V780 Lap1 Protein lap1 Drosophila melanogaster (Fruit fly) PR
Q96NW7 LRRC7 Leucine-rich repeat-containing protein 7 Homo sapiens (Human) PR
Q8IWT6 LRRC8A Volume-regulated anion channel subunit LRRC8A Homo sapiens (Human) PR
Q9HCJ2 LRRC4C Leucine-rich repeat-containing protein 4C Homo sapiens (Human) PR
Q96L50 LRR1 Leucine-rich repeat protein 1 Homo sapiens (Human) PR
Q86UN2 RTN4RL1 Reticulon-4 receptor-like 1 Homo sapiens (Human) PR
Q8IWK6 ADGRA3 Adhesion G protein-coupled receptor A3 Homo sapiens (Human) PR
Q7L1W4 LRRC8D Volume-regulated anion channel subunit LRRC8D Homo sapiens (Human) PR
Q96FE5 LINGO1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Homo sapiens (Human) PR
Q8TDW0 LRRC8C Volume-regulated anion channel subunit LRRC8C Homo sapiens (Human) PR
Q38SD2 LRRK1 Leucine-rich repeat serine/threonine-protein kinase 1 Homo sapiens (Human) EV
A6H694 Lrrc63 Leucine-rich repeat-containing protein 63 Mus musculus (Mouse) PR
Q9D9Q0 Lrrc69 Leucine-rich repeat-containing protein 69 Mus musculus (Mouse) PR
Q8BGI7 Lrrc39 Leucine-rich repeat-containing protein 39 Mus musculus (Mouse) PR
Q7TT36 Adgra3 Adhesion G protein-coupled receptor A3 Mus musculus (Mouse) PR
P59383 Lrrn4 Leucine-rich repeat neuronal protein 4 Mus musculus (Mouse) PR
Q9D1T0 Lingo1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Mus musculus (Mouse) PR
Q8R502 Lrrc8c Volume-regulated anion channel subunit LRRC8C Mus musculus (Mouse) PR
Q80WG5 Lrrc8a Volume-regulated anion channel subunit LRRC8A Mus musculus (Mouse) PR
Q8K0S5 Rtn4rl1 Reticulon-4 receptor-like 1 Mus musculus (Mouse) PR
Q80TE7 Lrrc7 Leucine-rich repeat-containing protein 7 Mus musculus (Mouse) PR
Q5DU41 Lrrc8b Volume-regulated anion channel subunit LRRC8B Mus musculus (Mouse) PR
Q5RKR3 Islr2 Immunoglobulin superfamily containing leucine-rich repeat protein 2 Mus musculus (Mouse) PR
Q8C031 Lrrc4c Leucine-rich repeat-containing protein 4C Mus musculus (Mouse) PR
P70587 Lrrc7 Leucine-rich repeat-containing protein 7 Rattus norvegicus (Rat) PR
Q4V8G0 Lrrc63 Leucine-rich repeat-containing protein 63 Rattus norvegicus (Rat) PR
Q80WD0 Rtn4rl1 Reticulon-4 receptor-like 1 Rattus norvegicus (Rat) PR
Q9TZM3 lrk-1 Leucine-rich repeat serine/threonine-protein kinase 1 Caenorhabditis elegans SS
Q9SHI4 RLP3 Receptor-like protein 3 Arabidopsis thaliana (Mouse-ear cress) SS
Q5G5E0 PIRL5 Plant intracellular Ras-group-related LRR protein 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q68F79 lrrc8e Volume-regulated anion channel subunit LRRC8E Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
B0JZ65 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
B0R160 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGPLSARLLM QRGRPKSDRL GKIRSLDLSG LELLSEHLDP KLLCRLTQLQ ELDLSNNHLE
70 80 90 100 110 120
TLPDNLGLSH LRVLRCANNQ LGDVTALCQF PKLEELSLEG NPFLTVNDNL KVSFLLPTLR
130 140 150 160 170 180
KVNGKDASST YSQVENLNRE LTSRVTAHWE KFMATLGPEE EAEKAQADFV KSAVRDVRYG
190 200 210 220 230 240
PESLSEFTQW RVRMISEELV AASRTQVQKA NSPEKPPEAG AAHKPRARLA ALKRPDDVPL
250 260 270 280 290 300
SLSPSKRACA SPSAQVEGSP VAGSDGSQPA VKLEPLHFLQ CHSKNNSPQD LETQLWACAF
310 320 330 340 350 360
EPAWEEGATS QTVATCGGEA VCVIDCQTGI VLHKYKAPGE EFFSVAWTAL MVVTQAGHKK
370 380 390 400 410 420
RWSVLAAAGL RGLVRLLHVR AGFCCGVIRA HKKAIATLCF SPAHETHLFT ASYDKRIILW
430 440 450 460 470 480
DIGVPNQDYE FQASQLLTLD TTSIPLRLCP VASCPDARLL AGCEGGCCCW DVRLDQPQKR
490 500 510 520 530 540
RVCEVEFVFS EGSEASGRRV DGLAFVNEDI VASKGSGLGT ICLWSWRQTW GGRGSQSTVA
550 560 570 580 590 600
VVVLARLQWS STELAYFSLS ACPDKGIVLC GDEEGNVWLY DVSNILKQPP LLPAALQAPT
610 620 630 640
QILKWPQPWA LGQVVTKTMV NTVVANASFT YLTALTDSNI VAIWGRM