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 Q8N8M0

Entry ID Method Resolution Chain Position Source
AF-Q8N8M0-F1 Predicted AlphaFoldDB

401 variants for Q8N8M0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs532463604
CA368649749
2 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs767752008
CA4406832
5 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4406829
rs141768939
11 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1231213480
CA368649626
13 E>D No ClinGen
TOPMed
gnomAD
CA163370814
rs373678437
13 E>K No ClinGen
ESP
CA368649608
rs1333807517
15 P>L No ClinGen
gnomAD
rs773603616
CA4406827
16 K>R No ClinGen
ExAC
gnomAD
rs143939241
CA4406822
17 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4406823
rs143939241
17 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146332959
CA4406825
17 P>S No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA4406824
rs146332959
17 P>T No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs1398168711
CA368649571
19 K>E No ClinGen
gnomAD
rs555118087
CA4406820
21 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199889473
CA4406819
22 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199889473
CA4406818
22 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1584222266
CA368649526
23 R>Q No ClinGen
Ensembl
rs755819266
CA4406817
24 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs752553136
CA4406816
25 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs867086471
CA163370802
25 A>V No ClinGen
Ensembl
CA4406814
rs767662024
27 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs566267507
CA4406813
28 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA368649476
rs1438527641
28 S>N No ClinGen
gnomAD
CA163370790
rs200993465
29 S>F No ClinGen
Ensembl
CA368649430
rs1240117858
31 T>I No ClinGen
gnomAD
CA368649434
rs1240117858
31 T>N No ClinGen
gnomAD
rs1584222212
CA368649442
31 T>P No ClinGen
Ensembl
rs766494955
CA4406811
32 R>W No ClinGen
ExAC
gnomAD
rs1273528974
CA368649420
33 P>T No ClinGen
gnomAD
CA4406810
rs763485972
34 Q>L No ClinGen
ExAC
gnomAD
CA368649400
rs1434832979
35 E>* No ClinGen
TOPMed
CA4406808
rs369470948
36 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368649357
rs1445725552
38 A>V No ClinGen
Ensembl
rs1239697931
CA368649353
39 E>* No ClinGen
TOPMed
gnomAD
rs1239697931
CA368649354
39 E>K No ClinGen
TOPMed
gnomAD
rs200814753
CA4406806
40 P>L No ClinGen
1000Genomes
ExAC
gnomAD
COSM1199000
CA368649338
rs1323341352
40 P>S large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1323341352
CA368649341
40 P>T No ClinGen
gnomAD
rs1326961991
CA368649329
41 R>K No ClinGen
TOPMed
gnomAD
CA368649327
rs1326961991
41 R>M No ClinGen
TOPMed
gnomAD
CA368649318
rs1307656509
COSM1446818
42 S>L large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA163370757
rs969687102
43 G>* No ClinGen
gnomAD
CA368649311
rs969687102
43 G>R No ClinGen
gnomAD
CA163370756
rs868016095
44 S>L No ClinGen
TOPMed
CA4406803
rs778539700
45 G>E No ClinGen
ExAC
gnomAD
rs756791990
CA4406802
46 P>S No ClinGen
ExAC
gnomAD
TCGA novel 47 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748856557
CA4406801
48 A>V No ClinGen
ExAC
gnomAD
CA368649252
rs1253938608
49 E>A No ClinGen
gnomAD
CA4406800
rs777517613
49 E>D No ClinGen
ExAC
gnomAD
TCGA novel 49 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4406799
rs756085636
50 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs755170919
CA4406796
51 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs762892730
CA4406793
52 P>L No ClinGen
ExAC
gnomAD
rs766619515
CA4406794
52 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4406791
rs765594961
54 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs774424411
CA163370713
COSM743521
56 V>A lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA368649174
rs1324983267
56 V>M No ClinGen
gnomAD
rs148986263
CA4406789
59 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765929180
CA163370701
60 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA4406787
rs765929180
60 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs774102605
CA368649128
61 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4406786
rs774102605
61 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1459459616
CA368649111
63 F>L No ClinGen
gnomAD
rs34985488
VAR_036903
CA4406785
63 F>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1562874738
CA368649097
64 E>K No ClinGen
Ensembl
CA163370665
rs888719265
65 E>K No ClinGen
TOPMed
gnomAD
CA4406784
rs748682002
66 V>E No ClinGen
ExAC
CA4406781
rs748166096
68 A>V No ClinGen
ExAC
gnomAD
CA4406778
rs751377393
69 I>L No ClinGen
ExAC
gnomAD
CA368649037
rs1280133277
69 I>M No ClinGen
gnomAD
rs1562874715
CA368649040
69 I>T No ClinGen
Ensembl
rs1212398263
CA368649027
70 S>L No ClinGen
gnomAD
CA4406775
rs750463591
71 G>R No ClinGen
ExAC
gnomAD
rs201666132
CA4406774
72 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA368649017
rs1401059973
72 G>S No ClinGen
gnomAD
rs201666132
CA4406773
72 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1310036075
CA368649008
73 I>L No ClinGen
gnomAD
rs764724362
CA4406770
73 I>T No ClinGen
ExAC
gnomAD
CA4406767
rs770488727
74 Y>* No ClinGen
ExAC
gnomAD
CA4406768
rs199835653
74 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199835653
CA163370630
74 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4406769
rs761066274
74 Y>H No ClinGen
ExAC
gnomAD
rs762726335
CA4406766
77 L>P No ClinGen
ExAC
gnomAD
CA4406765
rs772576785
79 Y>S No ClinGen
ExAC
rs769386646
CA4406764
81 P>L No ClinGen
ExAC
gnomAD
rs1041018030
CA163370619
84 Y>H No ClinGen
TOPMed
gnomAD
rs1041018030
CA368648895
84 Y>N No ClinGen
TOPMed
gnomAD
CA4406761
rs768594896
87 W>* No ClinGen
ExAC
gnomAD
CA368648825
rs373407624
89 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4406760
rs373407624
89 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 89 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779964441
CA4406759
90 D>N No ClinGen
ExAC
gnomAD
CA368648808
rs141085888
91 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4406757
rs141085888
91 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757315538
CA4406755
92 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA4406753
rs764632562
93 R>C No ClinGen
ExAC
gnomAD
CA4406754
rs764632562
93 R>S No ClinGen
ExAC
gnomAD
rs1448395607
CA368648781
94 T>K No ClinGen
gnomAD
rs1304625905
CA368648769
95 V>A No ClinGen
gnomAD
rs1380587012
CA368648775
95 V>L No ClinGen
gnomAD
CA368648763
rs1360699824
96 V>L No ClinGen
gnomAD
CA4406751
rs374694349
97 L>P No ClinGen
ESP
ExAC
gnomAD
CA4406750
rs374694349
97 L>Q No ClinGen
ESP
ExAC
gnomAD
CA4406749
rs762482160
99 K>* No ClinGen
ExAC
gnomAD
CA368648739
rs762482160
99 K>E No ClinGen
ExAC
gnomAD
CA163370576
rs925908745
99 K>M No ClinGen
gnomAD
rs1396458548
CA368648724
100 R>C No ClinGen
TOPMed
rs371229816
CA4406748
100 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA163370568
rs371229816
100 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1396458548
CA368648729
100 R>S No ClinGen
TOPMed
CA368648712
rs761254836
CA4406746
101 N>K No ClinGen
ExAC
gnomAD
CA4406745
rs776121685
102 G>R No ClinGen
ExAC
gnomAD
CA368648696
rs1415928277
104 V>M No ClinGen
TOPMed
gnomAD
CA4406706
rs369492361
109 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368647963
rs369492361
109 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1296087606
CA368647969
109 S>T No ClinGen
TOPMed
gnomAD
rs767489413
CA4406705
110 V>A No ClinGen
ExAC
gnomAD
rs544430736
CA4406704
111 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1226983129
CA368647940
112 V>M No ClinGen
gnomAD
CA368647926
rs1197547539
113 I>F No ClinGen
TOPMed
rs762874878
CA4406701
114 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs762874878
CA4406702
114 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1231330505
CA368647904
115 A>S No ClinGen
gnomAD
rs773518847
CA4406700
115 A>V No ClinGen
ExAC
gnomAD
rs965828709
CA163369777
116 G>E No ClinGen
TOPMed
CA4406699
rs770154793
116 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4406697
rs202212832
117 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA4406696
rs375132035
118 T>K No ClinGen
ESP
ExAC
gnomAD
rs1461717001
CA368647880
118 T>S No ClinGen
TOPMed
CA368647871
rs1327907822
119 V>L No ClinGen
TOPMed
rs1173332299
CA368647844
122 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA368647839
rs1474492634
122 E>V No ClinGen
gnomAD
rs780362510
CA163369754
123 G>A No ClinGen
ExAC
gnomAD
rs780362510
CA4406694
123 G>E No ClinGen
ExAC
gnomAD
rs747518733
CA163369760
123 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs747518733
CA4406695
123 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA4406693
rs555655635
124 L>R No ClinGen
1000Genomes
ExAC
gnomAD
CA368647827
rs1425571710
124 L>V No ClinGen
gnomAD
rs750804809
CA4406692
125 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4406691
rs777346007
125 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4406689
rs746429184
126 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA4406690
rs200194215
126 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA163369726
rs979673761
128 P>S No ClinGen
TOPMed
gnomAD
CA4406685
rs766442181
129 W>* No ClinGen
ExAC
gnomAD
CA4406686
rs572755206
129 W>R No ClinGen
1000Genomes
ExAC
gnomAD
CA4406684
rs762778679
130 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs372443350
CA4406683
131 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1390480121
CA368647767
131 R>H No ClinGen
TOPMed
gnomAD
rs1390480121
CA368647765
131 R>L No ClinGen
TOPMed
gnomAD
CA368647761
rs1250652671
132 G>R No ClinGen
TOPMed
rs761997494
CA4406681
136 A>S No ClinGen
ExAC
gnomAD
CA4406680
rs776748256
136 A>V No ClinGen
ExAC
gnomAD
rs775923236
CA368647686
140 Q>* No ClinGen
ExAC
gnomAD
CA4406676
rs775923236
140 Q>K No ClinGen
ExAC
gnomAD
CA368647671
rs1348511961
141 R>H No ClinGen
gnomAD
CA163369697
rs781560090
141 R>S No ClinGen
TOPMed
CA4406675
rs557780669
142 F>S No ClinGen
1000Genomes
ExAC
gnomAD
rs779311549
CA4406673
143 C>R No ClinGen
ExAC
gnomAD
TCGA novel 144 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368647639
rs1562873884
144 S>W No ClinGen
Ensembl
CA368647628
rs1439712240
145 Q>P No ClinGen
gnomAD
rs1457368624
CA368647607
147 V>A No ClinGen
TOPMed
CA368647609
rs1330843739
147 V>I No ClinGen
gnomAD
CA368647604
rs1407555880
148 K>E No ClinGen
TOPMed
gnomAD
CA368647596
rs1358126473
148 K>N No ClinGen
Ensembl
rs569010209
CA4406669
149 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 149 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4406668
rs754397489
150 Q>* No ClinGen
ExAC
gnomAD
CA368647576
rs1382263848
150 Q>H No ClinGen
gnomAD
rs550776605
CA4406667
150 Q>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 151 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1487520089
CA368647537
154 V>A No ClinGen
gnomAD
CA4406665
rs758476098
154 V>F No ClinGen
ExAC
gnomAD
CA4406666
rs758476098
154 V>I No ClinGen
ExAC
gnomAD
rs750227849
CA4406664
156 V>E No ClinGen
ExAC
gnomAD
rs1264972036
CA368647511
157 A>S No ClinGen
gnomAD
rs1262458947
CA368647506
157 A>V No ClinGen
gnomAD
rs762062727
CA4406662
158 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1334566074
CA368647502
158 R>W No ClinGen
TOPMed
rs1345343462
CA368647481
160 T>I No ClinGen
gnomAD
rs1218229583
CA368647488
160 T>P No ClinGen
TOPMed
gnomAD
CA4406661
rs776673558
161 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1298067387
CA368647462
162 D>E No ClinGen
gnomAD
CA368647459
rs746531603
163 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs746531603
CA163369648
163 D>Y No ClinGen
TOPMed
rs1171901403
CA368647442
CA368647440
164 Q>H No ClinGen
TOPMed
gnomAD
CA4406659
rs373822203
164 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772557794
CA4406658
164 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs772557794
CA4406657
164 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA4406656
rs746425054
166 G>D No ClinGen
ExAC
gnomAD
CA4406655
rs774671784
167 P>H No ClinGen
ExAC
gnomAD
CA163369639
rs369513802
167 P>S No ClinGen
Ensembl
CA4406653
rs749686941
168 R>Q No ClinGen
ExAC
gnomAD
CA4406654
rs771163513
168 R>W No ClinGen
ExAC
gnomAD
CA4406652
rs780651588
169 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1168006499
CA368647391
170 L>Q No ClinGen
TOPMed
rs1489242416
CA368647363
172 K>N No ClinGen
gnomAD
rs370796034
CA163369620
173 Y>H No ClinGen
ESP
TOPMed
CA368647348
rs1416886618
174 R>C No ClinGen
TOPMed
rs1254747811
CA368647347
174 R>H No ClinGen
gnomAD
CA4406650
rs746511872
178 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs779767462
CA4406649
179 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1264084341
CA368647242
180 G>D No ClinGen
TOPMed
gnomAD
CA368647232
rs759555931
181 I>N No ClinGen
ExAC
gnomAD
CA4406618
rs759555931
181 I>T No ClinGen
ExAC
gnomAD
rs1301625124
CA368647205
183 L>F No ClinGen
gnomAD
CA368647199
rs1387936195
184 V>I No ClinGen
TOPMed
gnomAD
CA368647183
rs751664579
185 R>* No ClinGen
ExAC
gnomAD
rs751664579
CA4406617
185 R>G No ClinGen
ExAC
gnomAD
rs942544822
CA163369119
185 R>P No ClinGen
gnomAD
rs1457506521
CA368647152
187 N>D No ClinGen
TOPMed
CA368647154
rs1457506521
187 N>H No ClinGen
TOPMed
rs917890345
CA163369115
188 A>G No ClinGen
TOPMed
rs1310189813
CA368647140
188 A>T No ClinGen
gnomAD
rs1292753301
CA368647120
190 A>T No ClinGen
gnomAD
rs1156288736
CA368647100
191 L>P No ClinGen
gnomAD
rs766793827
CA4406616
191 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs868407988
CA163369109
193 A>S No ClinGen
Ensembl
CA163369105
rs987020746
194 G>R No ClinGen
gnomAD
rs987020746
CA368647075
194 G>W No ClinGen
gnomAD
CA4406615
rs763571946
195 L>M No ClinGen
ExAC
gnomAD
CA163369091
rs955345879
195 L>P No ClinGen
TOPMed
CA368647055
rs1191019754
196 G>D No ClinGen
gnomAD
CA4406614
rs773425116
196 G>R No ClinGen
ExAC
gnomAD
CA368647044
rs1562873438
197 A>E No ClinGen
Ensembl
CA368647032
rs1356524808
198 R>P No ClinGen
TOPMed
CA368647037
rs1489091557
198 R>W No ClinGen
TOPMed
gnomAD
rs1286871088
CA368647008
200 A>E No ClinGen
gnomAD
CA368647005
rs1286871088
200 A>V No ClinGen
gnomAD
CA368647002
rs1310719300
201 A>T No ClinGen
gnomAD
rs977802076
CA163369085
201 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA368646972
rs879584444
203 R>G No ClinGen
TOPMed
gnomAD
CA368646968
rs1399359434
203 R>Q No ClinGen
gnomAD
rs1022058799
CA163369072
207 T>I No ClinGen
gnomAD
CA368646925
rs1584219457
207 T>P No ClinGen
Ensembl
CA4406609
rs745306009
210 P>L No ClinGen
ExAC
gnomAD
CA368646884
rs1175782104
210 P>S No ClinGen
gnomAD
CA4406607
rs778549341
214 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA368646817
rs770754694
216 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs770754694
CA4406606
216 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA4406605
rs749290510
217 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA368646800
rs749290510
217 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1313696395
CA368646769
220 G>C No ClinGen
gnomAD
rs752502819
CA4406602
221 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs781324827
CA368646749
222 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs781324827
CA368646750
222 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4406601
rs781324827
222 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1393850407
CA368646735
223 V>L No ClinGen
TOPMed
gnomAD
rs1400890621
CA368646716
224 A>V No ClinGen
gnomAD
CA368646713
rs1401888894
225 R>G No ClinGen
TOPMed
rs1467290271
CA368646708
225 R>H No ClinGen
gnomAD
rs751579356
CA4406599
226 L>F No ClinGen
ExAC
gnomAD
CA4406598
rs766528598
227 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs370171748
CA4406597
230 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4406595
rs765866104
232 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA368646634
rs1021796848
232 V>L No ClinGen
TOPMed
gnomAD
CA163369010
rs1021796848
232 V>M No ClinGen
TOPMed
gnomAD
rs1584219349
CA368646622
233 Q>* No ClinGen
Ensembl
CA368646613
rs1255593367
234 R>C No ClinGen
TOPMed
gnomAD
CA368646606
rs1201199776
234 R>H No ClinGen
TOPMed
gnomAD
CA368646615
rs1255593367
234 R>S No ClinGen
TOPMed
gnomAD
rs762206776
CA4406594
235 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA163369007
rs1035211527
235 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 235 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777136357
CA4406593
236 V>L No ClinGen
ExAC
gnomAD
CA4406592
rs377192349
237 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4406591
rs759287497
237 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA4406588
rs748775852
239 G>S No ClinGen
ExAC
gnomAD
rs267601204
CA163368964
240 G>R No ClinGen
gnomAD
rs267601204
CA368646544
240 G>W No ClinGen
gnomAD
CA368646524
rs1329726933
241 T>S No ClinGen
gnomAD
CA163368947
rs769728216
242 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA4406586
rs769728216
242 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA163368941
rs771705925
243 I>M No ClinGen
TOPMed
rs1446947809
CA368646502
243 I>N No ClinGen
TOPMed
gnomAD
rs1307860484
CA368646510
243 I>V No ClinGen
gnomAD
CA4406585
rs747933304
244 Q>P No ClinGen
ExAC
gnomAD
CA4406584
rs781024841
245 D>E No ClinGen
ExAC
gnomAD
CA368646441
rs1367942785
247 Q>* No ClinGen
gnomAD
CA4406582
rs551457672
250 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs551457672
CA163368930
250 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368646373
rs1387048863
253 E>K No ClinGen
TOPMed
CA4406580
rs758454710
254 S>N No ClinGen
ExAC
gnomAD
rs34496028
CA4406577
257 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA163368924
rs898287785
257 R>P No ClinGen
TOPMed
CA4406578
rs34496028
257 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA163368899
rs1037529011
258 L>P No ClinGen
TOPMed
CA4406576
rs754238631
259 L>M No ClinGen
ExAC
gnomAD
CA368646304
rs1265487544
259 L>P No ClinGen
gnomAD
rs760979596
CA4406574
260 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA163368888
rs760979596
260 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1050958630
CA163368883
261 A>D No ClinGen
gnomAD
CA368646275
rs1173329732
262 K>R No ClinGen
gnomAD
rs1463473773
CA368646262
263 G>D No ClinGen
TOPMed
rs1436781056
CA368646245
264 L>Q No ClinGen
gnomAD
CA368646252
rs1331349992
264 L>V No ClinGen
gnomAD
rs550665110
CA4406572
267 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550665110
CA163368879
267 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA368646157
rs1426565693
269 D>H No ClinGen
gnomAD
CA368646112
rs1253705388
271 R>G No ClinGen
TOPMed
CA4406569
rs769707992
272 A>E No ClinGen
ExAC
gnomAD
rs529394330
CA368646092
272 A>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA163368870
rs529394330
272 A>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs1450964149
CA368646080
273 R>G No ClinGen
gnomAD
rs1562873227
CA368646059
274 P>A No ClinGen
Ensembl
CA368646049
rs1268047723
274 P>L No ClinGen
gnomAD
CA368646047
rs1234470087
275 R>G No ClinGen
gnomAD
TCGA novel 275 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368646035
rs1224628943
275 R>L No ClinGen
gnomAD
CA163368842
rs978376868
276 V>M No ClinGen
gnomAD
CA368645999
rs1355458562
277 L>F No ClinGen
gnomAD
rs967946590
CA163368827
279 L>P No ClinGen
Ensembl
rs1324709816
CA368645940
280 C>R No ClinGen
TOPMed
gnomAD
COSM4161667
CA368645933
rs1407332139
280 C>S thyroid [Cosmic] No ClinGen
cosmic curated
gnomAD
CA368645913
rs1161795214
281 T>A No ClinGen
TOPMed
rs768456612
CA4406563
281 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA368645853
rs1410527406
284 F>L No ClinGen
gnomAD
CA4406561
rs780265632
285 P>R No ClinGen
ExAC
gnomAD
CA368645831
rs1562873187
286 I>L No ClinGen
Ensembl
CA368645817
rs1256631359
286 I>T No ClinGen
TOPMed
gnomAD
rs1477543063
CA368645806
287 P>T No ClinGen
gnomAD
CA4406559
rs201659057
289 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA368645757
rs1201432121
289 G>R No ClinGen
gnomAD
rs1584219026
CA368645723
290 G>V No ClinGen
Ensembl
rs778723713
CA4406558
291 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA368645708
rs778723713
291 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs754359293
CA4406556
292 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1275995364
CA368645683
292 G>V No ClinGen
gnomAD
rs756447039
CA4406554
293 T>I No ClinGen
ExAC
gnomAD
rs764722492
CA4406555
293 T>S No ClinGen
ExAC
gnomAD
CA368645659
rs1284353931
294 W>* No ClinGen
gnomAD
CA368645647
rs1291501381
294 W>C No ClinGen
TOPMed
rs937986290
CA163368772
296 Y>C No ClinGen
TOPMed
CA368645605
rs1225868464
296 Y>H No ClinGen
gnomAD
rs753012590
CA368645578
298 N>I No ClinGen
ExAC
gnomAD
rs753012590
CA4406553
298 N>S No ClinGen
ExAC
gnomAD
CA4406551
COSM3831461
rs762571452
300 D>E breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA368645557
rs1410263733
300 D>Y No ClinGen
TOPMed
rs926897640
CA163368743
302 F>V No ClinGen
TOPMed
CA163368741
rs1003733858
303 G>C No ClinGen
TOPMed
gnomAD
CA368645527
rs1003733858
303 G>R No ClinGen
TOPMed
gnomAD
rs749914075
CA4406550
304 S>G No ClinGen
ExAC
gnomAD
CA368645508
rs1323650181
304 S>N No ClinGen
TOPMed
rs371351222
CA4406549
305 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA368645461
rs1584218933
306 G>D No ClinGen
Ensembl
CA368645451
rs1422899810
307 A>P No ClinGen
gnomAD
CA368645374
rs1476070521
310 Q>H No ClinGen
gnomAD
rs776502659
CA4406547
311 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA368645354
rs1352228436
311 S>R No ClinGen
gnomAD
CA4406546
rs768491747
315 W>C No ClinGen
ExAC
gnomAD
rs760447778
CA368645296
316 H>N No ClinGen
ExAC
gnomAD
CA4406544
rs775212418
316 H>R No ClinGen
ExAC
gnomAD
rs760447778
CA4406545
316 H>Y No ClinGen
ExAC
gnomAD
CA368645251
rs772322657
319 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1416587871
CA368645243
319 R>H No ClinGen
TOPMed
CA4406543
rs772322657
319 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs746139290
CA4406542
321 A>V No ClinGen
ExAC
gnomAD
TCGA novel 322 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771088891
CA4406540
323 R>H No ClinGen
ExAC
gnomAD
CA368645141
rs1447530136
325 V>A No ClinGen
gnomAD
rs1282544886
CA368645145
325 V>F No ClinGen
gnomAD
CA368645151
rs1282544886
325 V>I No ClinGen
gnomAD
TCGA novel 328 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA368645102
rs1341365893
328 N>T No ClinGen
gnomAD
rs1399280161
CA368645061
330 M>I No ClinGen
gnomAD
CA4406539
rs749396806
330 M>L No ClinGen
ExAC
gnomAD
rs778279872
CA4406538
330 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1309402164
CA368645033
331 C>* No ClinGen
TOPMed
rs1281726522
CA368645007
332 Q>* No ClinGen
TOPMed
gnomAD
rs1281726522
CA368645009
332 Q>E No ClinGen
TOPMed
gnomAD
rs1226486881
CA368644962
334 F>L No ClinGen
TOPMed
CA4406537
rs756647344
335 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1342876818
CA368644917
336 E>* No ClinGen
TOPMed
CA368644895
rs1410965689
336 E>D No ClinGen
gnomAD
CA4406535
rs781460191
337 P>L No ClinGen
ExAC
CA368644858
rs1180817482
338 Q>H No ClinGen
gnomAD
CA4406534
rs758017412
340 W>* No ClinGen
ExAC
gnomAD
rs767720651
CA163368656
342 Q>R No ClinGen
Ensembl
rs1207577774
CA368644784
344 A>S No ClinGen
TOPMed
rs1039039144
CA368644754
345 D>E No ClinGen
TOPMed
CA368644760
rs1272739308
345 D>G No ClinGen
TOPMed
CA4406532
rs750036457
347 C>R No ClinGen
ExAC
gnomAD
rs764891260
CA4406531
347 C>S No ClinGen
ExAC
gnomAD
rs1309823104
CA368644678
350 G>R No ClinGen
TOPMed
gnomAD
COSM4153705
CA368644676
rs1309823104
350 G>W ovary [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA4406529
rs753349664
352 G>R No ClinGen
ExAC
rs775329336
CA4406526
354 E>A No ClinGen
ExAC
gnomAD
rs775329336
CA4406525
354 E>G No ClinGen
ExAC
gnomAD
rs764083992
CA4406527
354 E>Q No ClinGen
ExAC
gnomAD
rs1472111222
CA368644543
358 G>S No ClinGen
TOPMed
CA163368599
rs890557561
359 Y>* No ClinGen
gnomAD
CA368644531
rs1181716223
359 Y>D No ClinGen
TOPMed
rs1412454836
CA368644518
360 T>I No ClinGen
TOPMed
rs540857589
CA4406522
361 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs771287019
CA4406521
362 Q>L No ClinGen
ExAC
gnomAD
CA368644473
rs1368282732
363 Y>* No ClinGen
TOPMed
rs201313983
CA4406520
366 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1348125127
CA368644455
366 E>K No ClinGen
gnomAD
CA368644432
rs1386567207
368 D>N No ClinGen
gnomAD
rs770313623
CA4406518
370 I>L No ClinGen
ExAC
gnomAD
CA368644414
rs1360641353
370 I>R No ClinGen
TOPMed

No associated diseases with Q8N8M0

1 regional properties for Q8N8M0

Type Name Position InterPro Accession
domain GNAT domain 53 - 188 IPR000182

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

2 GO annotations of molecular function

Name Definition
acetyltransferase activity Catalysis of the transfer of an acetyl group to an acceptor molecule.
acyltransferase activity, transferring groups other than amino-acyl groups Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor).

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MKLEASCGTA TSEVPKPEKK TARDAEPSSE TRPQEVEAEP RSGSGPEAEA EPLDFVVATE
70 80 90 100 110 120
REFEEVLAIS GGIYGGLDYL PSRYHSWLRD PDRTVVLAKR NGGVIALESV NVIDAGETVL
130 140 150 160 170 180
VEGLRVAPWE RGKGVAGLLQ RFCSQLVKRQ HPGVKVARLT RDDQLGPREL KKYRLITKQG
190 200 210 220 230 240
ILLVRFNASA LLAGLGARLA ALRTSGTFSP LPTEAVSEAG GDVARLLLSP SVQRDVLPGG
250 260 270 280 290 300
TIIQDWQPYR PSESNLRLLA AKGLEWRVDS RARPRVLTLC TRPFPIPHGG DGTWRYLNID
310 320 330 340 350 360
AFGSDGAQVQ SQLLWHLQRQ APRLVGLNVM CQLFLEPQLW SQLADFCQVG LGLELVKGYT
EQYLLEADI