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 Q6ZS10

Entry ID Method Resolution Chain Position Source
AF-Q6ZS10-F1 Predicted AlphaFoldDB

286 variants for Q6ZS10

Variant ID(s) Position Change Description Diseaes Association Provenance
CA9255583
rs766081919
3 N>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 3 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA305701473
rs762497693
4 L>P No ClinGen
TOPMed
gnomAD
CA404444129
rs1337753453
6 S>Y No ClinGen
gnomAD
rs1357938517
CA404444136
7 I>T No ClinGen
TOPMed
rs1439831186
CA404444141
8 T>S No ClinGen
gnomAD
CA9255584
rs753870592
9 G>R No ClinGen
ExAC
gnomAD
rs1323913230
CA404444157
10 Y>* No ClinGen
TOPMed
gnomAD
CA9255585
rs754849090
11 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA305701497
rs975391458
COSM3422467
12 D>N large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs748265594
CA404444171
13 P>A No ClinGen
ExAC
gnomAD
rs1463264110
CA404444173
13 P>L No ClinGen
TOPMed
rs748265594
CA9255587
13 P>S No ClinGen
ExAC
gnomAD
rs540450558
CA9255588
14 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA404444175
rs1195864750
14 P>T No ClinGen
gnomAD
CA9255618
rs770517338
15 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA404444205
rs1568442911
17 M>T No ClinGen
Ensembl
CA9255619
rs776297892
17 M>V No ClinGen
ExAC
gnomAD
rs929782864
CA305701783
18 E>K No ClinGen
TOPMed
gnomAD
TCGA novel
rs759261392
CA404444224
19 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
rs765055669
CA9255624
20 E>K No ClinGen
ExAC
gnomAD
rs1441236364
COSM991924
CA404444247
22 E>D Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1446676949
CA404444255
23 D>E No ClinGen
gnomAD
rs1351257388
CA404444279
26 Y>* No ClinGen
TOPMed
CA9255627
rs762963063
COSM991925
27 E>D Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA305701800
rs1008366973
28 N>H No ClinGen
TOPMed
CA9255628
rs764311250
28 N>S No ClinGen
ExAC
gnomAD
rs1290604234
CA404444301
30 T>A No ClinGen
gnomAD
rs757315385
CA9255630
31 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA404444311
rs750595209
32 P>A No ClinGen
ExAC
gnomAD
rs750595209
CA9255632
32 P>S No ClinGen
ExAC
gnomAD
rs756540307
CA9255633
33 Y>* No ClinGen
ExAC
gnomAD
CA404444318
rs1160344271
33 Y>C No ClinGen
TOPMed
CA404444319
rs1160344271
33 Y>F No ClinGen
TOPMed
CA404444329
rs1432964303
34 K>N No ClinGen
TOPMed
rs1599524169
CA404444334
35 D>G No ClinGen
Ensembl
CA9255636
rs376824328
36 L>F No ClinGen
ESP
ExAC
gnomAD
rs376824328
CA9255635
36 L>V No ClinGen
ESP
ExAC
gnomAD
CA305701848
COSM3735542
rs200257988
37 P>S Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA404444349
rs1394605684
38 P>S No ClinGen
TOPMed
rs1191326688
CA404444368
41 G>R No ClinGen
TOPMed
gnomAD
rs955417794
CA305704884
41 G>V No ClinGen
TOPMed
rs1200125657
CA404444793
43 M>I No ClinGen
gnomAD
rs367580965
CA9255657
43 M>T No ClinGen
ESP
TOPMed
CA9255659
rs552112270
44 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1412313175
CA404444826
46 E>Q No ClinGen
gnomAD
CA9255660
COSM1201340
rs780733761
48 E>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404444883
rs1463228349
49 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 55 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404444971
rs1349072069
57 P>L No ClinGen
gnomAD
CA9255661
rs745548943
57 P>S No ClinGen
ExAC
gnomAD
rs371803480
CA9255665
62 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9255664
rs371803480
62 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774223439
CA9255666
62 L>P No ClinGen
ExAC
gnomAD
CA9255667
rs761798951
63 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9255668
rs767540826
64 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA404445028
rs1206920486
65 K>E No ClinGen
gnomAD
rs1444264891
CA404445048
66 P>R No ClinGen
TOPMed
rs1488731023
CA404445776
69 M>V No ClinGen
gnomAD
CA9255689
rs760753767
70 E>K No ClinGen
ExAC
gnomAD
rs967125043
CA305707795
72 E>Q No ClinGen
TOPMed
gnomAD
rs567554376
CA9255692
74 E>D No ClinGen
ExAC
gnomAD
CA9255691
rs776904591
74 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA404445869
rs753137908
CA9255694
75 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1354042720
CA404445865
75 D>G No ClinGen
gnomAD
rs765562448
CA9255693
75 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs764674868
CA9255697
77 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs763179467
CA9255695
77 D>H No ClinGen
ExAC
gnomAD
CA9255698
rs755756121
78 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA9255699
COSM228693
rs779700308
79 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA404445958
rs1461340763
82 T>A No ClinGen
gnomAD
CA9255701
rs754625408
83 P>L No ClinGen
ExAC
gnomAD
rs915727601
CA305707843
83 P>T No ClinGen
TOPMed
CA404445980
rs1235356271
84 P>A No ClinGen
TOPMed
gnomAD
CA404445981
rs1235356271
84 P>S No ClinGen
TOPMed
gnomAD
rs1357649404
CA404445995
85 Y>C No ClinGen
TOPMed
CA9255702
rs150637944
86 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1480982074
CA404446042
88 L>R No ClinGen
TOPMed
rs771702851
CA9255704
89 P>L No ClinGen
ExAC
gnomAD
TCGA novel 93 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404446552
rs1201595008
95 S>I No ClinGen
gnomAD
CA404446563
rs1238584776
97 P>A No ClinGen
TOPMed
rs1376019821
CA404446569
98 P>S No ClinGen
gnomAD
rs1168756889
CA404446597
102 R>S No ClinGen
gnomAD
rs777531272
CA9255723
104 A>T No ClinGen
ExAC
gnomAD
rs1599547115
CA404446629
106 E>K No ClinGen
Ensembl
rs1356515128
CA404446639
107 T>S No ClinGen
TOPMed
rs1162891939
CA404446663
110 P>L No ClinGen
TOPMed
CA9255739
rs752452950
110 P>T No ClinGen
ExAC
gnomAD
rs757963370
CA9255740
111 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 111 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9255741
rs763915824
114 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA9255742
rs763915824
114 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA404446690
rs1321976830
115 K>T No ClinGen
TOPMed
gnomAD
CA404446696
rs376222790
116 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376222790
CA9255743
116 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138054531
CA9255745
117 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9255744
rs369115211
117 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404446711
rs1234286907
119 M>L No ClinGen
TOPMed
CA9255746
rs756279350
119 M>T No ClinGen
ExAC
gnomAD
CA9255747
rs779979349
120 T>A No ClinGen
ExAC
gnomAD
TCGA novel 121 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1340191169
CA404446741
121 G>V No ClinGen
gnomAD
CA9255763
rs78269670
122 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375465288
CA9255764
123 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9255767
rs755048797
125 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367815850
CA9255769
126 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772622288
CA9255770
127 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA404446769
rs772622288
127 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA404446778
rs1472777603
128 T>S No ClinGen
gnomAD
CA9255772
rs747589482
129 C>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1267225767
CA404446794
131 P>A No ClinGen
TOPMed
rs1176157078
CA404446801
132 P>R No ClinGen
gnomAD
rs537474682
CA9255773
132 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777139189
CA9255774
134 L>V No ClinGen
ExAC
gnomAD
CA404446863
rs1568453259
140 P>A No ClinGen
Ensembl
CA305710743
rs368014882
140 P>L No ClinGen
ESP
TOPMed
rs1294599423
CA404446873
142 P>A Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1334702060
CA404446886
144 Q>* No ClinGen
TOPMed
rs371871014
CA9255797
145 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9255796
rs371871014
145 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1343142740
CA404446903
146 S>F No ClinGen
gnomAD
CA305710787
rs1045706174
147 L>V No ClinGen
TOPMed
gnomAD
CA404446909
rs1272232438
148 A>P No ClinGen
TOPMed
gnomAD
CA404446908
rs1272232438
148 A>T No ClinGen
TOPMed
gnomAD
CA404447569
rs1449152790
149 A>E No ClinGen
TOPMed
gnomAD
rs368206109
CA9255800
COSM1480683
149 A>T Variant assessed as Somatic; 9.282e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778589852
CA305712424
152 V>L No ClinGen
Ensembl
CA404447609
rs1164780206
153 P>R No ClinGen
gnomAD
rs747893944
CA305712437
155 L>F No ClinGen
Ensembl
CA305712457
rs890108053
COSM3388646
156 N>S pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA9255819
rs374642912
158 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374642912
CA9255818
158 R>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776533743
CA9255820
158 R>S No ClinGen
ExAC
gnomAD
CA9255821
rs759362478
161 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA9255822
rs201943272
162 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 163 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775509873
CA9255823
164 C>Y No ClinGen
ExAC
gnomAD
TCGA novel 165 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9255824
rs763010053
166 Q>H No ClinGen
ExAC
gnomAD
rs764221793
CA9255825
168 R>M No ClinGen
ExAC
gnomAD
rs751779668
CA404447776
169 W>G No ClinGen
ExAC
gnomAD
rs751779668
CA9255826
169 W>R No ClinGen
ExAC
gnomAD
CA9255827
rs757472883
170 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA404447797
rs1599551464
171 V>G No ClinGen
Ensembl
CA9255829
COSM1523794
rs750812921
172 Y>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1300008457
CA404447808
173 L>P No ClinGen
Ensembl
rs780540242
CA9255831
176 L>Q No ClinGen
ExAC
gnomAD
CA404447827
rs1171326452
CA404447829
177 V>L No ClinGen
TOPMed
rs1599551532
CA404447837
178 V>G No ClinGen
Ensembl
CA305712553
rs758358975
179 T>I No ClinGen
Ensembl
rs749793508
CA9255832
179 T>S No ClinGen
ExAC
gnomAD
rs757901878
CA9255833
180 S>F No ClinGen
ExAC
gnomAD
CA9255834
rs777312777
181 L>P No ClinGen
ExAC
gnomAD
CA9255836
rs770646733
184 G>A No ClinGen
ExAC
gnomAD
rs770646733
CA404447869
184 G>V No ClinGen
ExAC
gnomAD
rs776374091
CA9255837
186 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA404447890
rs1357265241
188 L>F No ClinGen
gnomAD
CA305712598
rs969992775
189 T>A No ClinGen
Ensembl
rs745670773
CA9255838
193 I>N No ClinGen
ExAC
gnomAD
rs1599551658
CA404447931
195 Y>H No ClinGen
Ensembl
rs1452323438
CA404447953
196 Q>* No ClinGen
gnomAD
CA404447964
rs1201097378
197 E>V No ClinGen
gnomAD
rs1169419690
CA404447982
199 M>I No ClinGen
gnomAD
rs1192588879
CA404447978
199 M>T No ClinGen
gnomAD
CA9255864
rs374356876
200 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404447992
rs1427552541
201 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9255866
rs140228268
204 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs866737571
CA305712751
208 Q>* No ClinGen
Ensembl
rs1388391041
CA404448049
209 Q>* No ClinGen
gnomAD
CA404448059
rs766766843
210 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA9255867
rs766766843
210 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA9255868
rs199539924
211 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA404448064
rs1599551974
211 T>P No ClinGen
Ensembl
CA9255870
rs765787102
213 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA9255871
COSM991928
rs753078060
213 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404448082
rs1225694558
214 T>A No ClinGen
gnomAD
rs1352521000
CA404448084
214 T>K No ClinGen
TOPMed
rs900874209
CA305714700
217 T>A No ClinGen
TOPMed
gnomAD
rs1452644078
COSM438733
CA404448454
218 G>S breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs753431748
CA9255896
220 A>S No ClinGen
ExAC
gnomAD
TCGA novel 220 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767654277
CA305714710
221 G>E No ClinGen
TOPMed
gnomAD
CA404448482
rs1311661328
222 L>R No ClinGen
gnomAD
CA9255897
rs754856408
222 L>V No ClinGen
ExAC
gnomAD
TCGA novel 228 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373607326
CA305714714
228 D>N No ClinGen
Ensembl
rs778546672
CA9255898
229 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA9255899
rs200596379
230 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA404448532
rs200596379
230 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA404448533
rs200596379
230 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs375201326
CA9255900
231 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9255901
rs777637590
COSM1600297
231 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404448553
rs770848670
234 A>D No ClinGen
ExAC
gnomAD
CA9255903
rs770848670
234 A>G No ClinGen
ExAC
gnomAD
CA9255902
rs747103231
234 A>T No ClinGen
ExAC
gnomAD
rs888597192
CA305714730
235 D>G No ClinGen
TOPMed
gnomAD
rs1240047942
CA404448567
236 T>S No ClinGen
gnomAD
rs746055612
CA9255905
CA404448573
237 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA9255904
rs776977838
237 N>S No ClinGen
ExAC
gnomAD
rs1034573226
CA305714737
240 L>V No ClinGen
Ensembl
rs763362627
CA9255908
243 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 244 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404448621
rs774935127
245 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA9255910
rs774935127
245 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA9255912
rs760331798
246 L>F No ClinGen
ExAC
gnomAD
TCGA novel 248 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404448660
rs1461871523
249 C>R No ClinGen
gnomAD
CA9255931
rs762605332
250 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9255932
rs776032874
250 R>H No ClinGen
ExAC
gnomAD
CA9255933
rs759035385
251 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764808677
CA404448672
251 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs764808677
COSM1717320
CA9255934
251 R>Q Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA404448675
rs1568457983
252 I>V No ClinGen
Ensembl
CA404448682
rs1365730226
253 T>A No ClinGen
gnomAD
rs752278108
CA9255935
253 T>I No ClinGen
ExAC
gnomAD
rs1262366644
CA404448694
255 P>S No ClinGen
TOPMed
rs532904394
CA9255937
257 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9255936
rs532904394
257 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9255939
rs757174646
258 W>C No ClinGen
ExAC
gnomAD
CA9255938
rs751538925
258 W>S No ClinGen
ExAC
gnomAD
rs551331621
CA9255940
262 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA9255941
rs566111046
264 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404448755
rs1568458033
264 K>N No ClinGen
Ensembl
CA404448796
rs1450875157
270 P>S No ClinGen
TOPMed
gnomAD
CA404448795
rs1450875157
270 P>T No ClinGen
TOPMed
gnomAD
CA305714953
rs765087072
271 S>C No ClinGen
Ensembl
rs1188676482
CA404448805
271 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1417754548
CA404448807
271 S>R No ClinGen
gnomAD
CA9255943
rs780493792
275 W>* No ClinGen
ExAC
gnomAD
CA404448848
rs1356934064
277 E>G No ClinGen
TOPMed
gnomAD
CA9255945
rs769195760
279 R>Q No ClinGen
ExAC
gnomAD
rs527321709
CA9255944
279 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1459927765
CA404448868
280 M>I No ClinGen
gnomAD
CA404448874
rs1568458106
281 F>S No ClinGen
Ensembl
rs779385827
CA9255946
283 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 284 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404448925
rs1433082337
288 H>Y No ClinGen
TOPMed
gnomAD
CA9255948
rs772476572
290 V>I No ClinGen
ExAC
gnomAD
CA305715009
rs988095549
298 H>R No ClinGen
TOPMed
rs1199358761
CA404447154
300 F>S No ClinGen
TOPMed
rs913304283
CA305672492
305 H>D No ClinGen
TOPMed
gnomAD
CA404447249
rs1599577239
308 P>L No ClinGen
Ensembl
rs1353497994
CA404447254
309 R>P No ClinGen
TOPMed
gnomAD
rs1353497994
CA404447255
309 R>Q No ClinGen
TOPMed
gnomAD
rs761612815
CA9255956
309 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1599577264
CA404447267
310 V>G No ClinGen
Ensembl
rs1232554263
CA404447328
316 N>S No ClinGen
TOPMed
gnomAD
rs971986552
CA305672501
318 R>G No ClinGen
TOPMed
gnomAD
CA404447351
rs1221761185
318 R>K No ClinGen
gnomAD
CA305672505
rs867937891
321 E>K No ClinGen
gnomAD
rs767363026
CA9255957
323 D>G No ClinGen
ExAC
gnomAD
CA305672521
rs551939773
327 L>P No ClinGen
1000Genomes
CA305672530
rs981685777
329 G>R No ClinGen
Ensembl
CA404447537
rs1222855703
334 L>F No ClinGen
TOPMed
rs750373272
CA9255958
335 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1346145627
CA404448116
336 F>S No ClinGen
gnomAD
CA404448144
rs1375550336
339 P>R No ClinGen
gnomAD
TCGA novel 343 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762401802
CA9255970
345 I>T No ClinGen
ExAC
gnomAD
CA9255971
rs768312458
347 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs773989623
CA9255972
349 D>G No ClinGen
ExAC
gnomAD
CA9255973
rs372917327
350 C>R No ClinGen
ESP
ExAC
gnomAD
rs767333885
CA9255974
350 C>Y No ClinGen
ExAC
gnomAD
rs750380113
CA9255975
351 A>T No ClinGen
ExAC
rs935537288
CA305674117
351 A>V No ClinGen
TOPMed
rs1433851272
CA404448237
352 T>A No ClinGen
gnomAD
rs1287770447
CA404448239
352 T>I No ClinGen
gnomAD
CA9255976
rs1345270005
354 N>H No ClinGen
gnomAD
TCGA novel 354 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760662849
CA9255978
355 K>E No ClinGen
ExAC
gnomAD
CA404448261
rs1398550789
355 K>R No ClinGen
gnomAD
TCGA novel 359 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766374913
CA9255979
363 S>F No ClinGen
ExAC
TOPMed
rs1408080301
CA404448331
365 Y>C No ClinGen
gnomAD
rs546292965
CA9255980
367 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA9255981
rs369718540
368 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1331138643
CA404448350
368 T>P No ClinGen
gnomAD
CA9255983
rs752957972
369 Y>N No ClinGen
ExAC
gnomAD
rs1234030363
CA404448366
370 W>* No ClinGen
gnomAD
rs1171523317
CA404448370
371 I>V No ClinGen
TOPMed
rs373656699
CA404448392
374 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs555278994
CA404448393
374 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9255986
rs555278994
374 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs373656699
CA9255985
374 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs896462597
CA305674144
378 C>Y No ClinGen
TOPMed
gnomAD

No associated diseases with Q6ZS10

1 regional properties for Q6ZS10

Type Name Position InterPro Accession
domain Thymidylate kinase-like domain 11 - 200 IPR039430

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass type II membrane protein
  • In fibroblasts, expressed on the cell surface
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cell surface The external part of the cell wall and/or plasma membrane.
external side of plasma membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

5 GO annotations of molecular function

Name Definition
carbohydrate binding Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.
fucose binding Binding to fucose, the pentose 6-deoxygalactose.
identical protein binding Binding to an identical protein or proteins.
mannose binding Binding to mannose, a monosaccharide hexose, stereoisomeric with glucose, that occurs naturally only in polymerized forms called mannans.
metal ion binding Binding to a metal ion.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P25031 Reg3b Regenerating islet-derived protein 3-beta Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MHNLYSITGY PDPPGTMEEE EEDDDYENST PPYKDLPPKP GTMEEEEEDD DYENSTPPYK
70 80 90 100 110 120
DLPPKPGTME EEEEDDDYEN STPPYKDLPP KPGSSAPPRP PRAAKETEKP PLPCKPRNMT
130 140 150 160 170 180
GLDLAAVTCP PPQLAVNLEP SPLQPSLAAT PVPWLNQRSG GPGCCQKRWM VYLCLLVVTS
190 200 210 220 230 240
LFLGCLGLTV TLIKYQELME ELRMLSFQQM TWRTNMTGMA GLAGLKHDIA RVRADTNQSL
250 260 270 280 290 300
VELWGLLDCR RITCPEGWLP FEGKCYYFSP STKSWDEARM FCQENYSHLV IINSFAEHNF
310 320 330 340 350 360
VAKAHGSPRV YWLGLNDRAQ EGDWRWLDGS PVTLSFWEPE EPNNIHDEDC ATMNKGGTWN
370
DLSCYKTTYW ICERKCSC