Descriptions

RFX1 is a transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').

Autoinhibitory domains (AIDs)

Target domain

238-331 (DNA-binding domain)

Relief mechanism

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

3 structures for Q99856

Entry ID Method Resolution Chain Position Source
2KK0 NMR - A 218-351 PDB
4LJX X-ray 221 A A/B 216-351 PDB
AF-Q99856-F1 Predicted AlphaFoldDB

523 variants for Q99856

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1484338581
CA402920942
5 A>S No ClinGen
gnomAD
CA402920962
rs1599379100
6 V>G No ClinGen
Ensembl
rs1384979178
CA402921001
9 T>M No ClinGen
gnomAD
CA9028944
rs775391208
16 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1157683802
CA402921072
16 R>W No ClinGen
gnomAD
CA9028945
rs762575709
17 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA402921092
rs1381759794
18 R>C No ClinGen
gnomAD
CA9028946
rs763786581
18 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1351255252
CA402921120
20 E>G No ClinGen
gnomAD
rs773745826
CA303967318
24 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs972745936
CA402921159
24 R>L No ClinGen
TOPMed
gnomAD
CA303967319
rs972745936
24 R>Q No ClinGen
TOPMed
gnomAD
CA9028947
rs773745826
24 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA402921195
rs1282267735
27 L>R No ClinGen
gnomAD
rs1160823369
CA402921203
28 P>L No ClinGen
TOPMed
CA402921200
rs1242994523
28 P>S No ClinGen
gnomAD
CA9028948
rs761318578
29 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9028949
rs3746143
30 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9028950
rs3746143
30 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs920210954
CA303967336
31 P>T No ClinGen
TOPMed
gnomAD
CA303967346
rs760005633
32 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs760005633
CA9028951
32 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA402921248
rs1339384384
33 A>P No ClinGen
gnomAD
CA402921252
rs1405142146
33 A>V No ClinGen
gnomAD
rs765638846
CA402921261
34 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA9028952
rs765638846
34 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA402921274
rs1404830450
35 P>L No ClinGen
gnomAD
CA402921265
rs1207997767
35 P>S No ClinGen
TOPMed
rs1207997767
CA402921268
35 P>T No ClinGen
TOPMed
CA402921277
rs1270074412
36 P>A No ClinGen
TOPMed
rs17857499
CA303967352
VAR_033203
36 P>H No ClinGen
UniProt
ExAC
dbSNP
gnomAD
rs17857499
CA9028954
36 P>R No ClinGen
ExAC
gnomAD
CA402921279
rs1270074412
36 P>S No ClinGen
TOPMed
CA402921288
rs3746142
37 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9028956
rs3746142
37 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757309861
CA303967388
38 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs757309861
CA9028958
38 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs372928434
CA9028957
38 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1391556382
CA402921305
39 A>S No ClinGen
TOPMed
CA9028960
rs745854452
40 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9028959
rs566450902
40 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs901576100
CA303967393
41 A>P No ClinGen
TOPMed
gnomAD
CA402921323
rs901576100
41 A>T No ClinGen
TOPMed
gnomAD
rs1321621039
CA402921328
41 A>V No ClinGen
TOPMed
gnomAD
rs984404034
CA303967394
42 A>P No ClinGen
TOPMed
gnomAD
CA402921340
rs1274124719
42 A>V No ClinGen
gnomAD
CA402921350
rs1180277346
43 P>L No ClinGen
gnomAD
rs780064122
CA9028962
43 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs780064122
CA402921342
43 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs533592758
CA402921365
44 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA303967415
rs865967345
44 D>G No ClinGen
Ensembl
CA9028964
rs768209693
44 D>N No ClinGen
ExAC
gnomAD
rs761261637
CA9028966
45 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs761261637
CA9028967
45 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs772686733
CA9028968
47 R>I No ClinGen
ExAC
CA402921403
rs1172618028
48 E>* No ClinGen
gnomAD
CA9028969
rs760093392
49 P>A No ClinGen
ExAC
rs753006514
CA402921431
50 E>* No ClinGen
ExAC
gnomAD
CA9028971
rs753006514
50 E>K No ClinGen
ExAC
gnomAD
rs1351494358
CA402921449
51 S>I No ClinGen
gnomAD
CA402921452
rs1405658944
52 A>S No ClinGen
gnomAD
rs1340380238
CA402921456
52 A>V No ClinGen
TOPMed
rs201419429
CA9028974
53 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9028973
rs764241109
53 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA402921468
rs1271203326
54 M>I No ClinGen
gnomAD
CA9028975
rs757518273
54 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs1395992590
CA402921473
55 Q>R No ClinGen
TOPMed
CA303967479
rs1036213275
56 R>Q No ClinGen
TOPMed
gnomAD
rs781483243
CA9028976
56 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA402921482
rs1490645828
57 A>S No ClinGen
gnomAD
rs1222642121
CA402921490
58 Q>R No ClinGen
gnomAD
CA9028979
rs780084740
61 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA9028980
rs749060364
62 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs565542220
CA402921527
64 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs565542220
CA303967503
64 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs565542220
CA9028981
64 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs1423226940
CA402921535
65 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
rs778542537
CA9028982
65 M>K No ClinGen
ExAC
gnomAD
CA303967511
rs865909266
66 R>L No ClinGen
TOPMed
gnomAD
rs865909266
CA303967513
66 R>Q No ClinGen
TOPMed
gnomAD
CA9028983
rs747883380
66 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9028985
rs772774665
67 A>T No ClinGen
ExAC
gnomAD
rs1401846810
CA402921542
67 A>V No ClinGen
gnomAD
rs760109900
CA9028986
68 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA303967518
rs1026903484
68 A>V No ClinGen
TOPMed
gnomAD
CA9028987
rs770296331
70 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs985649822
CA303967522
71 G>D No ClinGen
TOPMed
gnomAD
rs1290486699
CA402921564
72 L>M No ClinGen
gnomAD
rs774570726
CA9028992
73 G>* No ClinGen
ExAC
gnomAD
TCGA novel 73 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9028991
rs774570726
73 G>R No ClinGen
ExAC
gnomAD
rs767784999
CA9028993
74 H>Q No ClinGen
ExAC
gnomAD
rs756215696
CA9028995
75 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs756215696
CA9028996
75 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA9028994
rs750546639
75 P>T No ClinGen
ExAC
gnomAD
rs923050266
CA303967557
76 A>T No ClinGen
TOPMed
CA402921586
rs1244732487
76 A>V No ClinGen
gnomAD
rs1445231636
CA402921591
77 S>N No ClinGen
gnomAD
CA402921606
rs1383238230
78 P>H No ClinGen
gnomAD
CA9029001
rs116393241
79 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1384577937
CA402921615
79 G>D No ClinGen
TOPMed
gnomAD
rs116393241
CA402921612
79 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000965412
CA9029000
rs116393241
79 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA402921628
rs1383988513
80 G>D No ClinGen
gnomAD
CA9029002
rs777347924
80 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1383988513
CA402921626
80 G>V No ClinGen
gnomAD
CA402921639
rs1452292676
81 S>F No ClinGen
gnomAD
CA402921633
rs1251214921
81 S>T No ClinGen
TOPMed
CA402921649
rs1240607634
82 E>G No ClinGen
gnomAD
CA402921641
rs1356411784
82 E>K No ClinGen
gnomAD
CA9029004
rs770384410
83 D>G No ClinGen
ExAC
gnomAD
rs1260776110
CA402921659
83 D>N No ClinGen
gnomAD
CA9029006
rs749846450
84 G>E No ClinGen
ExAC
CA9029005
rs528482891
84 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1265689894
CA402921682
85 P>L No ClinGen
TOPMed
CA9029008
rs769043677
85 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA9029009
rs774786700
86 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA9029010
rs762212890
86 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs774786700
CA402921686
86 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA402921699
rs1182685148
87 G>D No ClinGen
gnomAD
rs1420775177
CA402921694
87 G>R No ClinGen
gnomAD
CA303967635
rs370403414
88 S>L No ClinGen
ExAC
TOPMed
CA9029011
rs370403414
88 S>W No ClinGen
ExAC
TOPMed
CA402921723
rs1451989551
90 E>K No ClinGen
TOPMed
gnomAD
rs1407038830
CA402921743
91 E>G No ClinGen
gnomAD
rs1376223527
CA402921771
93 A>E No ClinGen
TOPMed
gnomAD
COSM3357229
rs375623283
CA9029014
93 A>T haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA402921774
rs1376223527
93 A>V No ClinGen
TOPMed
gnomAD
CA402921789
rs755008780
95 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs765015703
CA9029018
95 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9029017
rs755008780
95 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1411298200
CA402921806
96 E>D No ClinGen
TOPMed
rs752500578
CA402921796
96 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs752500578
CA9029019
96 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375496194
CA9029021
99 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375496194
CA402921837
99 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA402921831
rs1202844303
99 P>S No ClinGen
gnomAD
rs1196301677
CA402921841
100 G>R No ClinGen
gnomAD
rs925892527
CA303967682
102 P>A No ClinGen
TOPMed
gnomAD
CA9029023
rs756833434
103 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs756833434
CA402921872
103 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs934605415
CA303967693
104 R>Q No ClinGen
gnomAD
CA402921891
rs1480218334
105 G>D No ClinGen
gnomAD
rs200325004
CA9029025
106 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1462752427
CA402921901
106 R>I No ClinGen
gnomAD
rs1394905517
CA402921937
109 P>R No ClinGen
gnomAD
rs1407488749
CA402921949
110 G>V No ClinGen
gnomAD
rs1284612476
CA402921966
112 E>A No ClinGen
gnomAD
CA402921970
rs1345807601
112 E>D No ClinGen
gnomAD
CA402921974
rs1222509748
113 H>Y No ClinGen
TOPMed
gnomAD
rs1299010844
CA402922013
116 D>N No ClinGen
gnomAD
CA402922034
rs1227822470
117 M>T No ClinGen
gnomAD
CA402922029
rs1232118450
117 M>V No ClinGen
TOPMed
TCGA novel 118 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 119 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402922060
rs187709308
120 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029027
rs187709308
120 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029029
rs772606131
121 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201922730
CA402922098
123 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029031
rs371181848
123 M>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201922730
CA9029030
123 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1381897611
CA402923154
126 K>Q No ClinGen
TOPMed
gnomAD
rs776667346
CA9029051
127 W>* No ClinGen
ExAC
TCGA novel 129 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775520957
CA9029054
130 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs199594401
CA9029053
130 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA402923280
rs1462947351
132 M>V No ClinGen
gnomAD
rs750083906
CA9029061
137 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA9029058
rs546907163
137 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029060
rs750083906
137 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA9029059
rs546907163
137 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1408886070
CA402923371
138 E>D No ClinGen
TOPMed
rs779769476
CA9029066
139 D>E No ClinGen
ExAC
rs1179167918
CA402923372
139 D>N No ClinGen
TOPMed
CA303970408
rs1054875210
140 E>K No ClinGen
Ensembl
TCGA novel 141 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1157927357
CA402923499
145 E>K No ClinGen
gnomAD
rs747420465
CA9029071
147 Y>C No ClinGen
ExAC
gnomAD
CA9029070
rs778366147
147 Y>D No ClinGen
ExAC
gnomAD
CA9029075
rs71335278
148 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs71335278
CA303970439
148 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029079
rs1347225312
149 D>E No ClinGen
TOPMed
CA402923585
rs1281415177
149 D>N No ClinGen
gnomAD
CA9029083
rs201472856
150 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA402923607
rs1568355559
150 E>K No ClinGen
Ensembl
rs775610546
CA9029084
151 E>V No ClinGen
ExAC
gnomAD
rs1325884054
CA402923662
152 E>D No ClinGen
gnomAD
CA9029085
rs141023843
152 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029086
rs141023843
152 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402923687
rs1204761231
154 E>K No ClinGen
gnomAD
CA9029088
CA402923727
rs565227251
155 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA402923712
rs1568355573
155 D>N No ClinGen
Ensembl
CA402923738
rs1568355580
156 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1441257850
CA402923775
157 E>D No ClinGen
TOPMed
gnomAD
CA402923785
rs1599383282
158 G>A No ClinGen
Ensembl
CA9029089
rs767267079
158 G>W No ClinGen
ExAC
gnomAD
CA402923828
rs1486447970
160 G>D No ClinGen
TOPMed
rs1019560008
CA303970532
161 P>T No ClinGen
Ensembl
CA402923857
rs1409362708
162 P>L No ClinGen
TOPMed
gnomAD
rs754487740
CA9029094
165 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs753412215
CA9029093
165 A>P No ClinGen
ExAC
gnomAD
CA402923902
rs754487740
165 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA303970553
rs1044805119
170 T>A No ClinGen
TOPMed
CA303970557
rs773573379
170 T>M No ClinGen
TOPMed
gnomAD
rs61735587
CA9029097
171 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA402924024
rs1224344789
173 F>L No ClinGen
gnomAD
rs570019877
CA9029099
174 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs570019877
CA402924028
174 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA402924044
rs1343326860
175 R>* No ClinGen
gnomAD
TCGA novel 175 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402924045
rs1216637592
175 R>Q No ClinGen
TOPMed
gnomAD
rs537575733
CA303970567
176 K>E No ClinGen
1000Genomes
rs990078382
CA402924064
176 K>N No ClinGen
TOPMed
CA402924108
rs1267782468
179 P>L No ClinGen
TOPMed
rs995146387
CA303970593
181 Q>P No ClinGen
TOPMed
CA9029101
rs756346008
182 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9029103
rs749403652
184 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9029104
rs201690655
184 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA402924170
rs749403652
184 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs911982273
CA303970630
185 G>S No ClinGen
TOPMed
gnomAD
CA9029106
rs534929571
186 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs534929571
CA303970635
186 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029107
rs772042824
187 G>D No ClinGen
ExAC
gnomAD
CA303970649
rs927823241
188 V>I No ClinGen
TOPMed
gnomAD
rs1302798263
CA402924212
190 R>G No ClinGen
gnomAD
CA402924225
rs1483911661
190 R>S No ClinGen
gnomAD
rs1175029513
CA402924234
191 V>A No ClinGen
gnomAD
CA303970666
rs939166353
191 V>L No ClinGen
TOPMed
gnomAD
CA402924227
rs939166353
191 V>M No ClinGen
TOPMed
gnomAD
rs1226601752
CA402924259
194 G>D No ClinGen
TOPMed
CA402924280
rs1381950584
196 E>K No ClinGen
TOPMed
CA402924298
rs373775705
197 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029108
rs373775705
197 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs894864274
CA303970676
197 R>W No ClinGen
TOPMed
gnomAD
rs760487324
CA9029109
198 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1360994837
CA402924304
198 P>S No ClinGen
gnomAD
rs886087583
CA303970712
199 G>V No ClinGen
TOPMed
CA9029110
rs766151255
200 P>L No ClinGen
ExAC
gnomAD
rs766151255
CA402924335
200 P>R No ClinGen
ExAC
gnomAD
rs1433004905
CA402924340
201 G>R No ClinGen
gnomAD
rs35228814
CA303970718
202 P>S No ClinGen
gnomAD
CA402924375
rs1448864737
204 H>D No ClinGen
TOPMed
gnomAD
CA402924381
rs1599383596
204 H>P No ClinGen
Ensembl
CA402924377
rs1448864737
204 H>Y No ClinGen
TOPMed
gnomAD
rs776380486
CA9029111
206 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA402924409
rs1388905828
207 G>R No ClinGen
gnomAD
CA402924435
rs1319468213
209 A>T No ClinGen
gnomAD
CA402924460
rs577924521
211 V>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA303970764
rs577924521
211 V>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs111301205
CA402924476
212 A>D No ClinGen
gnomAD
rs111301205
CA303970768
212 A>V No ClinGen
gnomAD
CA303970774
rs538210190
213 P>L No ClinGen
1000Genomes
TOPMed
CA402924491
rs1353894208
214 Q>* No ClinGen
gnomAD
CA402924494
rs1206526401
214 Q>P No ClinGen
gnomAD
CA402924502
rs1284444131
215 L>M No ClinGen
TOPMed
gnomAD
rs367623103
CA9029114
217 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA303970791
rs763395935
217 P>S No ClinGen
Ensembl
rs757767143
CA9029116
221 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA402924573
rs1445144445
221 G>S No ClinGen
gnomAD
rs1036013642
CA303970800
222 D>N No ClinGen
TOPMed
gnomAD
CA402924585
rs1036013642
222 D>Y No ClinGen
TOPMed
gnomAD
CA303995134
rs777850746
232 L>H No ClinGen
Ensembl
CA9029139
rs761152181
234 E>K No ClinGen
ExAC
gnomAD
CA402927526
rs766789167
235 L>F No ClinGen
ExAC
gnomAD
rs766789167
CA9029140
235 L>I No ClinGen
ExAC
gnomAD
rs766789167
CA9029141
235 L>V No ClinGen
ExAC
gnomAD
rs970653088
CA303995167
236 D>E No ClinGen
TOPMed
gnomAD
CA402927534
rs779139236
236 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA9029143
rs779139236
COSM1172696
236 D>N oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9029144
rs752740985
237 G>R No ClinGen
ExAC
gnomAD
CA402927561
rs1412807882
238 D>G No ClinGen
TOPMed
CA402927553
rs1407389507
238 D>H No ClinGen
gnomAD
rs769342047
CA9029151
246 D>N No ClinGen
ExAC
gnomAD
CA402927718
rs1292824667
250 S>R No ClinGen
gnomAD
rs972773194
CA303995210
253 Q>E No ClinGen
Ensembl
CA402928586
rs1405866299
258 P>R No ClinGen
TOPMed
CA303999008
rs868683152
261 R>H No ClinGen
Ensembl
CA303999015
rs866993552
263 P>S No ClinGen
Ensembl
TCGA novel 269 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402928790
rs1346552034
274 M>I No ClinGen
gnomAD
rs1235008185
CA402928783
274 M>V No ClinGen
TOPMed
rs749030700
CA402928806
277 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs749030700
CA9029170
277 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 278 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1454504887
CA402928827
280 T>M No ClinGen
gnomAD
CA9029173
rs747600455
286 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs866421579
CA303999070
288 V>G No ClinGen
Ensembl
CA402928875
rs1228218964
288 V>I No ClinGen
gnomAD
CA402928953
rs1266612874
299 K>E No ClinGen
gnomAD
rs1463104251
CA402928963
300 G>D No ClinGen
gnomAD
rs1482658281
CA402928994
305 T>M No ClinGen
gnomAD
rs759927569
CA9029176
306 S>F No ClinGen
ExAC
gnomAD
rs17857501
VAR_033204
CA303999657
320 K>E No ClinGen
UniProt
Ensembl
dbSNP
CA402929134
rs1323062149
324 P>L No ClinGen
gnomAD
rs1433264132
CA402929155
327 C>Y No ClinGen
gnomAD
CA303999688
rs774570359
330 R>Q No ClinGen
TOPMed
gnomAD
COSM1004329
rs145361495
CA9029215
330 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA402929185
rs1227095806
331 G>S No ClinGen
gnomAD
rs934402938
CA303999693
332 L>F No ClinGen
Ensembl
CA9029217
rs368350530
336 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368350530
CA9029216
336 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1183749059
CA402929249
337 E>Q No ClinGen
gnomAD
rs1449679620
CA402929310
342 I>V No ClinGen
TOPMed
gnomAD
CA9029220
rs766373330
344 S>G No ClinGen
ExAC
gnomAD
CA9029222
rs759445593
350 R>Q No ClinGen
ExAC
gnomAD
rs752484238
CA9029224
351 R>C No ClinGen
ExAC
gnomAD
CA9029225
rs758046272
351 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1162910979
CA402929450
353 S>R No ClinGen
gnomAD
CA9029226
rs777228150
354 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA9029227
rs751100042
359 F>L No ClinGen
ExAC
gnomAD
rs756678274
CA9029228
361 Y>C No ClinGen
ExAC
gnomAD
CA9029230
rs372075149
362 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1341760308
CA402929557
363 P>T No ClinGen
gnomAD
CA402929575
rs1283271334
364 G>D No ClinGen
gnomAD
rs779427974
CA9029232
364 G>R No ClinGen
ExAC
gnomAD
rs773267886
CA9029235
365 G>E No ClinGen
ExAC
gnomAD
COSM1398251
CA9029234
rs538606329
365 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1206752922
CA402929602
367 H>Y No ClinGen
TOPMed
gnomAD
rs868103098
CA303999897
368 G>D No ClinGen
Ensembl
rs143163296
CA9029238
368 G>R No ClinGen
ESP
ExAC
gnomAD
rs143163296
CA402929613
368 G>S No ClinGen
ESP
ExAC
gnomAD
rs1046566620
CA303999898
372 S>L No ClinGen
TOPMed
CA303999900
rs891123182
373 P>S No ClinGen
TOPMed
gnomAD
CA9029241
rs752498725
377 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs375909439
CA402929773
381 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029242
rs375909439
381 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029244
rs751208667
382 L>P No ClinGen
ExAC
gnomAD
rs763836736
CA9029243
382 L>V No ClinGen
ExAC
gnomAD
CA402929791
rs1262697969
383 A>G No ClinGen
TOPMed
CA402929786
rs1333117894
383 A>S No ClinGen
gnomAD
rs749890340
CA9029247
384 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1288498751
CA402929816
385 S>I No ClinGen
gnomAD
CA9029248
rs575203453
386 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA402929841
rs12608658
CA402929842
387 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 387 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779513674
CA9029249
387 N>S No ClinGen
ExAC
gnomAD
CA9029251
rs758731649
388 G>S No ClinGen
ExAC
gnomAD
rs778179350
CA9029252
389 S>I No ClinGen
ExAC
gnomAD
CA402929863
rs1599424557
389 S>R No ClinGen
Ensembl
rs747251396
CA9029253
390 S>C No ClinGen
ExAC
gnomAD
rs747251396
CA402929873
390 S>F No ClinGen
ExAC
gnomAD
CA9029254
rs771180105
391 I>V No ClinGen
ExAC
gnomAD
rs745885970
CA9029256
392 T>N No ClinGen
ExAC
gnomAD
CA9029255
rs776697309
392 T>P No ClinGen
ExAC
gnomAD
rs1436581385
CA402929900
393 P>S No ClinGen
TOPMed
rs147399288
CA402929908
394 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147399288
COSM1004330
CA9029258
394 A>T endometrium skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA9029259
rs762844219
394 A>V No ClinGen
ExAC
gnomAD
rs1373230182
CA402929921
395 P>H No ClinGen
gnomAD
CA402929919
rs1171560627
395 P>S No ClinGen
gnomAD
rs763856062
CA9029260
397 I>V No ClinGen
ExAC
gnomAD
rs1414835402
CA402929968
398 K>R No ClinGen
TOPMed
CA304000912
rs975933739
400 E>V No ClinGen
TOPMed
rs1391347278
CA402930818
402 D>V No ClinGen
gnomAD
CA9029273
rs145850291
404 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9029275
rs375227599
406 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402930840
rs375227599
406 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1340053626
CA402930849
407 I>T No ClinGen
gnomAD
rs1297155248
CA402930845
407 I>V No ClinGen
gnomAD
CA9029277
rs768575143
408 T>P No ClinGen
ExAC
gnomAD
CA9029279
rs761624925
409 V>A No ClinGen
ExAC
gnomAD
rs774034068
CA9029278
409 V>I No ClinGen
ExAC
gnomAD
rs767107570
CA9029280
411 G>D No ClinGen
ExAC
gnomAD
CA402930868
rs1450497130
411 G>R No ClinGen
gnomAD
rs143073569
CA9029281
412 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368267576
CA9029282
412 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9029284
rs753391986
414 P>S No ClinGen
ExAC
gnomAD
rs1457306707
CA402930886
415 V>M No ClinGen
gnomAD
rs1045674988
CA304001030
417 L>R No ClinGen
TOPMed
gnomAD
rs751888436
CA9029287
418 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA402930924
rs1354051547
421 P>L No ClinGen
TOPMed
rs1313484710
CA402930931
422 V>G No ClinGen
gnomAD
CA402930933
rs1231936611
423 V>M No ClinGen
gnomAD
CA402930950
rs1599426737
425 A>G No ClinGen
Ensembl
CA402930954
rs1599426741
426 Q>P No ClinGen
Ensembl
CA9029290
rs750690353
428 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs937201928
CA304001109
429 A>T No ClinGen
TOPMed
gnomAD
CA402930976
rs1208481657
430 V>L No ClinGen
gnomAD
rs1484670654
CA402930982
431 Q>E No ClinGen
gnomAD
rs756327494
CA9029291
432 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1331176469
CA402930998
433 A>G No ClinGen
TOPMed
CA402931008
rs1422739050
435 A>T No ClinGen
TOPMed
gnomAD
rs1162617457
CA402931011
435 A>V No ClinGen
gnomAD
rs999477648
CA304001119
436 Q>R No ClinGen
TOPMed
gnomAD
rs1457754865
CA402931030
438 A>V No ClinGen
gnomAD
rs1343252018
CA402931034
439 V>A No ClinGen
gnomAD
CA9029293
rs749335471
COSM1189739
439 V>M lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA402931043
rs995627264
441 A>S No ClinGen
TOPMed
gnomAD
CA304001138
rs995627264
441 A>T No ClinGen
TOPMed
gnomAD
CA9029295
rs778870269
443 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA402931059
rs1290357880
443 A>V No ClinGen
gnomAD
rs1282545796
CA402931089
448 Q>R No ClinGen
gnomAD
rs886770931
CA304001148
449 L>V No ClinGen
Ensembl
CA9029299
rs371676089
450 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773129754
CA9029298
450 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA402931100
rs1185137227
451 E>K No ClinGen
gnomAD
rs1181396793
CA402931131
455 S>A No ClinGen
TOPMed
gnomAD
CA9029303
rs548635209
459 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548635209
CA402931159
459 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029308
rs756345868
466 V>A No ClinGen
ExAC
gnomAD
CA9029307
rs750722798
466 V>L No ClinGen
ExAC
gnomAD
rs772160745
CA9029309
467 A>T No ClinGen
ExAC
rs1220171155
CA402931218
468 D>E No ClinGen
gnomAD
CA9029311
rs369884232
468 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1278425843
CA402931220
469 E>K No ClinGen
TOPMed
gnomAD
rs1346671874
CA402931236
471 Q>K No ClinGen
gnomAD
CA9029312
rs144256341
471 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA9029314
rs772133293
472 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs140181068
CA9029313
472 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029315
CA402931266
rs777713031
475 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA9029316
rs746742501
COSM1183574
476 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA9029317
rs559697185
476 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029318
rs776302212
478 L>F No ClinGen
ExAC
gnomAD
CA402931286
rs1376966400
479 Q>R No ClinGen
TOPMed
gnomAD
CA9029319
rs759076550
480 Q>K No ClinGen
ExAC
gnomAD
CA402931293
rs1469683411
480 Q>R No ClinGen
TOPMed
rs769392624
CA9029320
482 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1429188198
CA402931313
483 L>V No ClinGen
gnomAD
rs1049199971
CA304001261
485 M>L No ClinGen
TOPMed
CA304001268
rs949347853
486 A>V No ClinGen
Ensembl
CA9029323
rs534931697
488 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA402931345
rs1599427176
488 Q>P No ClinGen
Ensembl
CA9029324
rs773591927
491 M>I No ClinGen
ExAC
gnomAD
rs140675218
CA9029326
494 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9029325
rs760991193
494 R>W No ClinGen
ExAC
gnomAD
CA402931393
rs1194726175
496 N>H No ClinGen
gnomAD
TCGA novel 499 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA402931418
rs1304492542
499 A>P No ClinGen
TOPMed
rs1212737500
CA402931706
501 E>A No ClinGen
TOPMed
CA9029360
rs537786817
501 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029361
rs781106095
503 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143256319
CA9029362
503 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755814713
CA9029363
504 Q>R No ClinGen
ExAC
gnomAD
CA9029364
rs779533318
505 D>N No ClinGen
ExAC
gnomAD
CA402931800
rs1183562614
509 N>H No ClinGen
gnomAD
rs1599429212
CA402931807
509 N>T No ClinGen
Ensembl
rs142537557
CA9029366
511 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA304002932
rs1025651534
515 G>D No ClinGen
TOPMed
gnomAD
CA402931877
rs1174748444
515 G>S No ClinGen
TOPMed
gnomAD
CA402931913
rs1022065150
517 N>K No ClinGen
gnomAD
rs1434997315
CA402931943
520 S>G No ClinGen
gnomAD
rs1353051807
CA402931956
521 M>L No ClinGen
gnomAD
rs1353051807
CA402931955
521 M>V No ClinGen
gnomAD
CA9029370
rs747585677
522 S>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 523 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1599429281
CA402931992
523 V>G No ClinGen
Ensembl
rs1276448472
CA402932029
526 N>S No ClinGen
gnomAD
rs770082664
CA9029374
527 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA402932065
rs1319113851
529 M>R No ClinGen
TOPMed
gnomAD
CA402932064
rs1319113851
529 M>T No ClinGen
TOPMed
gnomAD
CA9029376
rs763245378
529 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA304005446
rs879114353
533 V>I No ClinGen
Ensembl
rs1294890712
CA402932124
536 A>G No ClinGen
gnomAD
rs1383026538
CA402932120
536 A>T No ClinGen
TOPMed
gnomAD
rs1308784506
CA402932129
537 Q>L No ClinGen
TOPMed
CA9029402
rs547744138
538 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029405
rs145475596
539 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9029404
rs145475596
539 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA402932141
rs1266544789
539 P>S No ClinGen
gnomAD
CA9029407
rs757883431
540 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9029408
rs201677585
542 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780569363
CA9029411
543 P>A No ClinGen
ExAC
gnomAD
rs1418467220
CA402932176
546 A>T No ClinGen
gnomAD
CA402932183
rs1460900570
547 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1021870103
CA304005481
551 G>C No ClinGen
TOPMed
rs769033902
CA304005508
552 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs769033902
CA9029420
552 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA9029422
rs748380647
553 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs772101781
CA9029423
553 G>V No ClinGen
ExAC
gnomAD
rs1270360847
CA402932227
554 G>D No ClinGen
gnomAD
CA9029425
rs200079740
554 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1259778621
CA402932230
555 G>D No ClinGen
gnomAD
CA9029427
rs572708769
555 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1484721214
CA402932235
556 G>D No ClinGen
gnomAD
rs1051505
VAR_033205
CA9029430
556 G>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
COSM1004340
CA9029435
rs752338179
557 S>G Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA402932240
rs1257650853
557 S>N No ClinGen
gnomAD
CA9029436
rs758051704
558 S>G No ClinGen
ExAC
gnomAD
rs763578244
CA9029437
559 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs751013219
CA9029439
560 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA9029440
rs576049092
561 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1158182095
CA402932270
561 A>V No ClinGen
gnomAD
CA9029441
rs749782323
562 G>S No ClinGen
ExAC
gnomAD
rs779323045
CA9029443
COSM178096
563 G>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1286285525
CA402932280
563 G>V No ClinGen
gnomAD
rs143689585
CA9029445
564 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143689585
CA402932282
564 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9029446
rs143689585
564 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374272985
CA9029444
564 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770883132
CA9029448
565 G>E No ClinGen
ExAC
gnomAD
CA9029447
rs747064662
565 G>R No ClinGen
ExAC
gnomAD
rs770883132
CA402932285
565 G>V No ClinGen
ExAC
gnomAD
rs776587212
CA9029449
566 G>R No ClinGen
ExAC
gnomAD
CA9029450
rs535008862
568 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs561845616
CA9029452
569 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9029453
rs529074862
570 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1208554450
CA402932313
570 T>N No ClinGen
gnomAD
rs1253873193
CA402932316
571 S>G No ClinGen
gnomAD
rs148111495
CA9029455
571 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA402932326
rs1405564900
572 G>D No ClinGen
gnomAD
CA9029456
rs371664837
572 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1394487799
CA402932329
573 G>D No ClinGen
gnomAD
CA9029458
rs754455044
573 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1599433311
CA402932336
574 Q>R No ClinGen
Ensembl
rs755538493
CA9029459
575 A>G No ClinGen
ExAC
gnomAD
rs141917785
CA9029460
576 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368720844
CA9029461
577 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA402932352
rs1309997687
577 P>S No ClinGen
gnomAD
CA402932356
rs1254377590
578 A>P No ClinGen
TOPMed
CA9029462
rs150609955
578 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781231612
CA9029466
582 T>I No ClinGen
ExAC
gnomAD
rs745869302
CA9029467
583 P>T No ClinGen
ExAC
gnomAD
rs1230906725
CA402932390
584 S>C No ClinGen
gnomAD
CA9029469
rs775161413
584 S>T No ClinGen
ExAC
gnomAD
rs1206458145
CA402932396
585 T>I No ClinGen
TOPMed
CA402932404
rs1599433393
587 T>P No ClinGen
Ensembl
CA9029470
rs762759062
588 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs768306091
CA9029471
590 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA304005625
rs767204634
591 S>* No ClinGen
ExAC
gnomAD
rs767204634
CA9029474
591 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9029473
rs761544461
591 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs760137708
CA402932452
592 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs765729766
CA9029477
593 P>S No ClinGen
ExAC
gnomAD

No associated diseases with Q99856

No regional properties for Q99856

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q99856

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Shuttles between nucleus and cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
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.

4 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.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding Binding to an identical protein or proteins.
transcription coregulator activity A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

2 GO annotations of biological process

Name Definition
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.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8BM75 Arid5b AT-rich interactive domain-containing protein 5B Mus musculus (Mouse) PR
Q62431 Arid3a AT-rich interactive domain-containing protein 3A Mus musculus (Mouse) PR
O02326 cfi-1 AT-rich interactive domain-containing protein cfi-1 Caenorhabditis elegans PR
C0SUW7 ARID6 AT-rich interactive domain-containing protein 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q0WNR6 ARID5 AT-rich interactive domain-containing protein 5 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MKLQAVMETL LQRQQRARQE LEARQQLPPD PPAAPPGRAR AAPDEDREPE SARMQRAQMA
70 80 90 100 110 120
ALAAMRAAAA GLGHPASPGG SEDGPPGSEE EDAAREGTPG SPGRGREGPG EEHFEDMASD
130 140 150 160 170 180
EDMKPKWEEE EMEEDLGEDE EEEEEDYEDE EEEEDEEGLG PPGPASLGTT ALFPRKAQPP
190 200 210 220 230 240
QAFRGDGVPR VLGGQERPGP GPAHPGGAAH VAPQLQPPDH GDWTYEEQFK QLYELDGDPK
250 260 270 280 290 300
RKEFLDDLFS FMQKRGTPVN RIPIMAKQVL DLFMLYVLVT EKGGLVEVIN KKLWREITKG
310 320 330 340 350 360
LNLPTSITSA AFTLRTQYMK YLYPYECEKR GLSNPNELQA AIDSNRREGR RQSFGGSLFA
370 380 390 400 410 420
YSPGGAHGML SSPKLPVSSL GLAASTNGSS ITPAPKIKKE EDSAIPITVP GRLPVSLAGH
430 440 450 460 470 480
PVVAAQAAAV QAAAAQAAVA AQAAALEQLR EKLESAEPPE KKMALVADEQ QRLMQRALQQ
490 500 510 520 530 540
NFLAMAAQLP MSIRINSQAS ESRQDSAVNL TGTNGSNSIS MSVEINGIMY TGVLFAQPPA
550 560 570 580 590
PTPTSAPNKG GGGGGGSSSN AGGRGGNTGT SGGQAGPAGL STPSTSTSNN SLP