Q96SK2
PR
Gene name |
TMEM209 |
Protein name |
Transmembrane protein 209 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84928 |
EC number |
|
Protein Class |
|
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 Q96SK2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96SK2-F1 | Predicted | AlphaFoldDB |
455 variants for Q96SK2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1233108354 | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4482935 rs768935806 |
2 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369286689 rs1331503091 |
3 | Q>R | No |
ClinGen gnomAD |
|
|
rs1303638907 CA369286684 |
4 | G>R | No |
ClinGen gnomAD |
|
|
CA4482932 rs779662205 |
5 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749537792 CA4482933 |
5 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769658764 CA4482931 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1350303249 CA369286661 |
7 | H>Q | No |
ClinGen TOPMed |
|
|
CA369286665 rs1404476080 |
7 | H>Y | No |
ClinGen gnomAD |
|
|
CA4482927 rs372033819 |
8 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs745685974 CA4482926 |
8 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4482928 rs372033819 |
8 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs959724092 CA166903321 |
9 | S>I | No |
ClinGen TOPMed |
|
|
CA369286635 rs1426435791 |
12 | L>F | No |
ClinGen gnomAD |
|
|
CA4482924 rs550108114 |
12 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369286637 rs1426435791 |
12 | L>V | No |
ClinGen gnomAD |
|
|
CA369286628 rs1435173805 |
13 | I>T | No |
ClinGen TOPMed |
|
|
rs751064765 CA4482923 |
14 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1465880423 CA369286614 |
15 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367876336 CA166903308 |
16 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4482922 rs367876336 |
16 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369286596 rs1203003621 |
18 | K>R | No |
ClinGen gnomAD |
|
|
rs757986885 CA4482921 |
19 | M>V | No |
ClinGen ExAC |
|
|
rs752380023 CA4482920 |
21 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482919 rs764839470 |
23 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538404668 CA4482916 |
25 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4482918 rs538404668 |
25 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA166903286 rs886861121 |
26 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750811961 CA4482915 |
26 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs750811961 CA369286544 |
26 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs768068217 CA4482914 |
27 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4482913 rs762419136 |
29 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1584703814 CA369286523 |
29 | V>G | No |
ClinGen Ensembl |
|
|
rs1415601039 CA369286445 |
36 | N>H | No |
ClinGen gnomAD |
|
|
rs769954891 CA4482908 |
37 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA369286432 CA4482909 rs775748044 |
37 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237349127 COSM1187434 CA369286401 |
39 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA369286387 rs1447558623 |
41 | G>R | No |
ClinGen TOPMed |
|
|
rs1584703709 CA369286362 |
42 | M>K | No |
ClinGen Ensembl |
|
|
rs1389119260 CA369286337 |
44 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs995362870 CA166903240 |
45 | T>I | No |
ClinGen TOPMed |
|
|
rs745659800 CA4482905 |
46 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1157910522 CA369286250 |
47 | M>I | No |
ClinGen TOPMed |
|
|
rs770733686 CA4482879 |
50 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs752001619 CA4482877 |
52 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369286196 rs1405408389 |
55 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA369286183 rs1415389552 |
57 | N>D | No |
ClinGen gnomAD |
|
|
CA166903043 rs181145537 |
57 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs181145537 CA4482875 |
57 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371175751 CA166903022 |
60 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA369286151 rs1291792845 |
61 | W>* | No |
ClinGen TOPMed |
|
|
CA4482871 rs781658361 |
62 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4482873 rs748919176 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748919176 CA4482872 |
62 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA369286141 rs1352663043 |
63 | L>R | No |
ClinGen TOPMed |
|
|
rs200007074 CA4482869 |
64 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs923267197 CA166902991 |
66 | I>T | No |
ClinGen gnomAD |
|
|
CA369286094 rs1415977293 |
68 | L>R | No |
ClinGen gnomAD |
|
|
rs758880550 CA4482843 |
68 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1414535732 CA369286088 |
69 | A>V | No |
ClinGen TOPMed |
|
|
CA369286085 rs1311511555 COSM598973 |
70 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA369286084 rs1168235171 |
70 | L>R | No |
ClinGen gnomAD |
|
|
rs754991353 CA4482840 |
71 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA369286077 rs1443266024 |
71 | A>V | No |
ClinGen TOPMed |
|
|
CA4482838 rs766584994 |
72 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238567993 CA369286069 |
73 | L>F | No |
ClinGen gnomAD |
|
|
CA4482837 rs760892839 |
76 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA369286036 rs1315089028 |
78 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4482835 rs767324847 |
79 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs370175241 CA4482836 |
79 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 83 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166902240 rs1056496295 |
84 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA369285978 rs1056496295 |
84 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1347147600 CA369285968 |
84 | R>S | No |
ClinGen TOPMed |
|
|
CA4482832 rs774128292 |
86 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs768683726 CA4482831 |
87 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4482830 rs762353049 |
88 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA4482829 rs775204795 |
91 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1368523987 CA369285859 |
91 | A>V | No |
ClinGen gnomAD |
|
|
rs183716648 CA4482828 |
93 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745527671 CA4482827 |
93 | T>R | No |
ClinGen ExAC TOPMed |
|
|
CA166902180 rs758877081 |
94 | S>I | No |
ClinGen TOPMed |
|
|
rs758877081 CA369285824 |
94 | S>T | No |
ClinGen TOPMed |
|
|
rs1584701172 CA369285804 |
97 | V>F | No |
ClinGen Ensembl |
|
|
CA369285788 rs1430714038 |
99 | P>S | No |
ClinGen gnomAD |
|
|
CA166902171 rs920853264 |
100 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778232934 CA4482825 |
101 | Q>E | No |
ClinGen ExAC |
|
|
rs1396203515 CA369285730 |
103 | T>A | No |
ClinGen TOPMed |
|
|
rs536099479 CA4482823 |
105 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1184154525 CA369285618 |
109 | T>I | No |
ClinGen gnomAD |
|
|
CA369285216 rs1386480868 |
112 | V>L | No |
ClinGen gnomAD |
|
|
CA369285208 rs1562900717 |
113 | Q>* | No |
ClinGen Ensembl |
|
|
CA4482806 rs759223524 |
113 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482807 rs759223524 |
113 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776390630 CA4482805 |
114 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA369285201 rs770675560 |
114 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482804 rs770675560 |
114 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369285199 rs1251524299 |
115 | T>A | No |
ClinGen TOPMed |
|
|
COSM1085496 CA4482802 rs200859439 |
115 | T>M | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs180774592 CA369285185 |
117 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs180774592 CA4482800 |
117 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs180774592 CA369285186 |
117 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1267624964 CA369285180 |
118 | H>R | No |
ClinGen gnomAD |
|
|
CA369285176 rs200051270 |
119 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4482798 rs200051270 |
119 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA369285168 rs1435318601 |
120 | L>V | No |
ClinGen TOPMed |
|
|
rs746001064 CA4482796 |
123 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4482793 rs751243745 |
126 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765305061 CA369285116 |
128 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs752711542 CA4482790 |
128 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482789 rs765305061 |
128 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759104004 CA4482788 |
129 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1364604172 CA369285113 |
129 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4482786 rs373907724 |
130 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4482787 rs376813382 |
130 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760390416 CA4482785 |
132 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482784 rs774533808 |
133 | S>A | No |
ClinGen ExAC |
|
|
rs1466893301 CA369285081 |
135 | Q>* | No |
ClinGen gnomAD |
|
|
rs749697715 CA4482781 |
139 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369285029 rs1447106589 |
142 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4482779 rs770339414 |
143 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4482777 rs781334321 |
146 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482776 rs199916709 |
146 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166901818 rs747276995 |
147 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345494831 CA369285002 |
147 | S>T | No |
ClinGen gnomAD |
|
|
rs747276995 CA4482775 |
147 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777389483 CA369284994 |
148 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777389483 CA4482774 |
148 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341534365 CA369284990 |
149 | S>N | No |
ClinGen gnomAD |
|
|
rs1298330562 CA369284980 |
150 | T>I | No |
ClinGen gnomAD |
|
|
rs758236576 CA4482773 |
151 | S>G | No |
ClinGen ExAC TOPMed |
|
|
CA369284976 rs1192855369 |
151 | S>T | No |
ClinGen TOPMed |
|
|
CA369284967 rs1393207495 |
152 | P>L | No |
ClinGen TOPMed |
|
|
CA369284962 rs1562900415 |
153 | K>R | No |
ClinGen Ensembl |
|
|
CA4482772 rs752587268 |
157 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482771 rs778991228 |
157 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397009397 CA369284934 |
157 | S>R | No |
ClinGen gnomAD |
|
|
rs1460198931 CA833266675 |
158 | C>* | No |
ClinGen TOPMed |
|
|
rs1404743150 CA369284929 |
158 | C>Y | No |
ClinGen gnomAD |
|
|
CA369284921 rs1427348180 |
159 | M>R | No |
ClinGen gnomAD |
|
|
rs1314345982 CA369284923 |
159 | M>V | No |
ClinGen gnomAD |
|
|
rs1389163987 CA369284911 |
160 | T>S | No |
ClinGen gnomAD |
|
|
rs1251821547 CA369284909 |
161 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369284900 rs1394526899 |
162 | Y>C | No |
ClinGen TOPMed |
|
|
rs754971255 CA4482770 |
162 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA4482768 rs765938765 |
164 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482766 rs533074803 |
167 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 170 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369284851 rs1482887613 |
170 | S>T | No |
ClinGen gnomAD |
|
|
CA369284845 rs1275598010 |
171 | S>P | No |
ClinGen gnomAD |
|
|
rs924360334 CA166901787 |
174 | S>N | No |
ClinGen gnomAD |
|
|
rs1284149533 CA369284812 |
176 | S>T | No |
ClinGen gnomAD |
|
|
rs1562900302 CA578152171 |
177 | Y>* | No |
ClinGen Ensembl |
|
|
rs775894905 CA4482763 |
177 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763294220 CA4482764 |
177 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA369284800 rs1469742802 |
178 | S>C | No |
ClinGen gnomAD |
|
|
rs1469742802 CA369284798 |
178 | S>G | No |
ClinGen gnomAD |
|
|
rs112117918 CA4482761 |
182 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762862113 CA166901736 |
183 | Y>C | No |
ClinGen Ensembl |
|
|
rs776522190 CA4482760 |
184 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411181360 CA369284755 |
185 | P>S | No |
ClinGen gnomAD |
|
|
rs775337438 CA166901715 |
186 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775337438 CA4482756 |
186 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166901708 rs775337438 |
186 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866368902 CA166901701 |
187 | S>G | No |
ClinGen Ensembl |
|
|
CA4482755 rs747886705 |
187 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778866632 CA4482754 |
189 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369284734 rs1486827964 |
189 | Y>D | No |
ClinGen TOPMed |
|
|
CA369284732 rs778866632 |
189 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252855453 CA369284725 |
190 | N>S | No |
ClinGen gnomAD |
|
|
CA369284714 rs1302735804 |
191 | K>R | No |
ClinGen gnomAD |
|
|
CA4482726 rs368539344 |
193 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4482725 rs368539344 |
193 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201333876 CA369283832 |
194 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201333876 CA4482723 |
194 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246202906 CA369283823 |
195 | F>L | No |
ClinGen gnomAD |
|
|
CA4482720 rs370053728 |
198 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs751240699 CA4482721 |
198 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs868767989 CA166895527 |
199 | P>S | No |
ClinGen Ensembl |
|
|
CA4482719 rs755346066 |
201 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754213345 CA369283724 |
202 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754213345 CA4482717 |
202 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454832982 CA369283719 |
203 | Y>H | No |
ClinGen TOPMed |
|
|
rs1584688974 CA369283715 |
203 | Y>S | No |
ClinGen Ensembl |
|
|
CA4482714 rs773377773 |
204 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs767738375 CA4482713 |
205 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1024975736 CA166895480 |
206 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4482712 rs762026740 |
207 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762026740 CA166895474 |
207 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166895473 rs955381209 |
209 | P>L | No |
ClinGen Ensembl |
|
|
CA369283650 rs1290524898 |
209 | P>T | No |
ClinGen gnomAD |
|
|
rs566596465 CA4482711 |
211 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1335117253 CA369283603 |
212 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA166895443 rs1015792500 |
213 | S>I | No |
ClinGen TOPMed |
|
|
rs993113988 CA166895464 |
213 | S>R | No |
ClinGen TOPMed |
|
|
CA166895448 rs1015792500 |
213 | S>T | No |
ClinGen TOPMed |
|
|
rs768822849 CA4482710 |
214 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4482707 rs370646313 |
216 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745824509 CA4482706 |
217 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756727957 CA4482704 |
218 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482705 rs756727957 |
218 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482703 rs746569941 |
218 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746569941 CA369283529 |
218 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029687309 CA166895374 |
219 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs377325560 CA4482702 |
220 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4482701 rs758053205 |
220 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369283509 rs758053205 |
220 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166895359 rs377325560 |
220 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754174060 CA4482700 |
223 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs996245358 CA166895330 |
223 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 224 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4482698 rs756606396 |
225 | V>I | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768190427 CA4482696 |
227 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs768190427 CA369283434 |
227 | N>T | No |
ClinGen ExAC TOPMed |
|
|
rs761973773 CA4482695 |
228 | S>L | No |
ClinGen ExAC |
|
|
CA369283416 rs1173815386 |
229 | P>S | No |
ClinGen gnomAD |
|
|
rs900203741 CA166895311 |
230 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4482694 rs201829964 |
230 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs900203741 CA369283408 |
230 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs190850344 CA4482692 |
231 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs190850344 CA4482693 |
231 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4482691 rs775302666 |
232 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4482690 rs769505605 |
233 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA369283331 rs1368997614 |
236 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776525894 CA4482688 |
238 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166895247 rs759734087 |
240 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs746516956 CA4482686 |
244 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1310076555 CA369283189 |
247 | R>G | No |
ClinGen TOPMed |
|
|
CA369283167 rs1415143737 |
248 | S>N | No |
ClinGen gnomAD |
|
|
rs1249205504 CA369283145 |
250 | E>G | No |
ClinGen gnomAD |
|
|
rs777152443 CA4482685 |
250 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA369283148 rs777152443 |
250 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA166895220 rs1000404867 |
253 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4482684 rs528889989 |
254 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747788294 CA4482683 |
255 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4482682 rs371219642 |
255 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369283105 rs1257093709 |
256 | V>I | No |
ClinGen gnomAD |
|
|
rs377705134 CA369283084 |
258 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771451399 CA369281819 |
260 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747740431 CA4482665 |
263 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs778414104 CA4482664 |
264 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900034535 CA166887225 |
265 | S>A | No |
ClinGen TOPMed |
|
|
CA166887224 rs778844952 |
265 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 267 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746165590 CA4482661 |
268 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA166887200 rs76457921 |
270 | P>H | No |
ClinGen Ensembl |
|
|
CA369281698 rs890095452 |
271 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA166887196 rs890095452 |
271 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs373339996 CA4482660 |
272 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369281665 rs1453285705 |
275 | Y>C | No |
ClinGen gnomAD |
|
|
rs1584680535 CA369281661 |
276 | S>G | No |
ClinGen Ensembl |
|
|
CA4482659 rs757794920 |
276 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA369281651 rs1463534636 |
277 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1194955415 CA369281653 |
277 | R>S | No |
ClinGen gnomAD |
|
|
rs752041691 CA4482658 |
279 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205543541 CA369281629 |
280 | G>E | No |
ClinGen gnomAD |
|
|
CA166887166 rs866896284 |
282 | Y>C | No |
ClinGen TOPMed |
|
|
rs1486701601 CA369281608 |
283 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA369281602 rs1254506491 |
284 | Q>H | No |
ClinGen gnomAD |
|
|
CA166887161 rs924512896 |
284 | Q>P | No |
ClinGen TOPMed |
|
|
CA166887160 rs916171780 |
285 | T>I | No |
ClinGen Ensembl |
|
|
CA369281558 rs758388799 |
290 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1305804109 CA369281551 |
291 | Y>* | No |
ClinGen gnomAD |
|
|
rs752882256 CA4482655 |
291 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs993113562 CA166887149 |
292 | Q>E | No |
ClinGen Ensembl |
|
|
rs1226254894 CA369281543 |
292 | Q>H | No |
ClinGen gnomAD |
|
|
CA369281526 rs1319516679 |
295 | C>Y | No |
ClinGen gnomAD |
|
|
rs765375105 CA4482654 |
296 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166887130 rs960540954 |
300 | P>A | No |
ClinGen Ensembl |
|
|
CA4482651 rs184581181 |
303 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA369281466 rs1311921554 |
304 | K>R | No |
ClinGen TOPMed |
|
|
CA4482648 rs772999463 |
305 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA369281458 rs760502369 |
305 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs760502369 CA4482649 |
305 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs192030189 CA4482647 |
306 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4482645 rs199551332 |
308 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369281433 rs1253733803 |
309 | L>H | No |
ClinGen gnomAD |
|
|
CA369281421 rs1199656541 |
311 | S>P | No |
ClinGen gnomAD |
|
|
rs777099730 CA4482642 |
313 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA369281390 rs535464239 |
313 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535464239 CA4482641 |
313 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4482640 rs747458552 |
314 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166887047 rs759012773 |
315 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1229635 CA4482638 rs759012773 |
315 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4482636 rs369405252 |
316 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 318 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036496171 CA369281103 |
320 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA369281107 rs1036496171 |
320 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA166886574 rs1036496171 |
320 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4482618 rs772401686 |
325 | N>H | No |
ClinGen ExAC |
|
|
rs942687538 CA166886571 |
325 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 329 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4482614 rs755027681 |
330 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4482615 rs755027681 |
330 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs549739519 CA166886566 |
330 | D>N | No |
ClinGen Ensembl |
|
|
rs1461785717 CA369280880 |
331 | H>Y | No |
ClinGen gnomAD |
|
|
rs184462311 CA4482613 |
332 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369280804 rs1584679035 |
335 | W>R | No |
ClinGen Ensembl |
|
|
CA4482612 rs780248134 |
337 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs367630141 CA4482611 |
339 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773400478 CA4482601 |
342 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA369279666 rs1394487792 |
342 | W>* | No |
ClinGen gnomAD |
|
|
CA4482602 rs773400478 |
342 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs117369236 CA4482600 |
344 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs532472396 CA4482598 |
346 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA166885164 rs904991250 |
347 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1447896264 CA369279568 |
347 | I>V | No |
ClinGen gnomAD |
|
|
rs1274309356 CA369279555 |
348 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369279523 rs1284544909 |
351 | L>V | No |
ClinGen gnomAD |
|
|
CA369279492 rs1345291751 |
353 | Q>P | No |
ClinGen gnomAD |
|
|
rs374386876 CA166885158 |
354 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4482595 rs769856251 |
355 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166885130 rs908186075 |
355 | I>M | No |
ClinGen TOPMed |
|
|
CA4482594 rs769856251 |
355 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757055963 CA4482590 |
358 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4482592 rs371439302 |
358 | V>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4482593 rs371439302 |
358 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs982542495 CA369279438 |
360 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs982542495 CA166885115 |
360 | T>K | No |
ClinGen TOPMed |
|
|
rs1295262117 CA369279441 |
360 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs777851764 CA4482588 |
362 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs571419654 CA4482589 |
362 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758416928 CA4482587 |
364 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752198667 CA4482586 |
364 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764825753 CA4482585 CA369279384 |
365 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174392959 CA369279380 |
366 | G>S | No |
ClinGen gnomAD |
|
|
CA369279324 rs1388889913 |
371 | Q>* | No |
ClinGen gnomAD |
|
|
rs759070814 CA4482584 |
373 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1188151182 CA369279101 |
376 | S>N | No |
ClinGen gnomAD |
|
|
rs561561189 CA4482570 |
377 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4482568 rs73144800 |
378 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1203189079 CA369279072 |
378 | T>S | No |
ClinGen gnomAD |
|
|
rs752713615 CA4482567 |
379 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4482566 rs778763706 |
379 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs140475659 CA4482564 |
380 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1392143013 CA369278952 |
386 | V>I | No |
ClinGen gnomAD |
|
|
rs1294146379 CA369278892 |
388 | A>V | No |
ClinGen gnomAD |
|
|
rs765988156 CA4482562 |
392 | P>L | Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1356827459 CA369278763 |
396 | T>A | No |
ClinGen gnomAD |
|
|
rs763344598 CA4482558 |
397 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4482556 rs765726354 |
398 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759659307 CA4482555 |
400 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs776581507 CA4482554 |
402 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1480650146 CA369278612 |
404 | T>I | No |
ClinGen gnomAD |
|
|
CA166883128 rs1011392856 |
410 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375222588 CA166883124 |
411 | F>L | No |
ClinGen ESP gnomAD |
|
|
CA369278489 rs1333890250 |
413 | R>G | No |
ClinGen gnomAD |
|
|
rs747259651 CA4482552 |
413 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs146812311 CA166883115 |
413 | R>S | No |
ClinGen 1000Genomes |
|
|
rs773101353 CA4482551 |
415 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315399063 CA369278454 |
416 | E>K | No |
ClinGen gnomAD |
|
|
CA369277695 rs1389587350 |
418 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776725781 CA4482536 |
419 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs996766355 CA166881156 |
421 | G>S | No |
ClinGen TOPMed |
|
|
rs376741645 CA4482534 |
422 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166881142 rs368516221 |
422 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368516221 CA4482535 |
422 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369277641 rs376741645 |
422 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422205887 CA369277621 |
423 | M>R | No |
ClinGen TOPMed |
|
|
rs1422205887 CA369277623 |
423 | M>T | No |
ClinGen TOPMed |
|
|
rs773555172 CA4482533 |
423 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482532 rs772489480 |
426 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs747908015 CA4482531 |
427 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260861854 CA369277529 |
428 | W>* | No |
ClinGen gnomAD |
|
|
CA369277480 rs774028320 |
431 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774028320 CA4482530 |
431 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210295888 CA369277459 |
433 | D>G | No |
ClinGen gnomAD |
|
|
rs758685655 CA4482528 |
433 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482527 rs755595290 |
434 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1283104212 CA369277446 |
435 | K>E | No |
ClinGen gnomAD |
|
|
CA369277432 rs1225787168 |
437 | R>* | No |
ClinGen gnomAD |
|
|
rs745444662 CA4482525 |
437 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1384250802 CA369277413 |
439 | W>* | No |
ClinGen gnomAD |
|
|
CA369277420 rs1296811699 |
439 | W>R | No |
ClinGen gnomAD |
|
|
rs1303962110 CA369277387 |
443 | L>P | No |
ClinGen TOPMed |
|
|
CA369277380 rs1310650560 |
444 | P>L | No |
ClinGen gnomAD |
|
|
CA369277381 rs1310650560 |
444 | P>R | No |
ClinGen gnomAD |
|
|
rs756909694 CA4482523 |
445 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779168837 CA369277374 |
446 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482521 rs779168837 |
446 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369277365 rs1372408001 |
447 | S>A | No |
ClinGen gnomAD |
|
|
CA369277356 rs1478656594 |
448 | A>V | No |
ClinGen gnomAD |
|
|
rs969153180 CA166879916 |
449 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM345906 rs1470126023 CA369277246 |
451 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA369277230 rs1171851812 |
452 | H>L | No |
ClinGen TOPMed |
|
|
rs780697472 CA4482504 |
456 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780697472 CA369277167 |
456 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 463 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467524231 CA369276957 |
465 | H>Q | No |
ClinGen gnomAD |
|
|
CA369276934 rs1273017709 |
466 | P>L | No |
ClinGen gnomAD |
|
|
rs17857472 VAR_042918 CA166879887 |
469 | P>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs754294783 CA4482499 |
470 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334596377 CA369276755 |
476 | S>Y | No |
ClinGen gnomAD |
|
|
rs1234584831 CA369276729 |
477 | Q>H | No |
ClinGen TOPMed |
|
|
CA166879864 rs370995504 |
479 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369276683 rs1197823938 |
481 | Q>H | No |
ClinGen TOPMed |
|
|
CA369276680 rs1448986306 |
482 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1448040 rs1392185059 CA369276678 |
482 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA369276676 rs1236834853 |
483 | P>T | No |
ClinGen gnomAD |
|
|
rs376857150 CA4482496 |
486 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203281817 CA369276630 |
487 | D>G | No |
ClinGen TOPMed |
|
|
CA4482485 rs746579543 |
489 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4482484 CA4482483 rs771760546 |
491 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482482 rs749607293 |
494 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780585918 CA4482481 |
496 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs868019696 CA166879750 |
497 | Y>C | No |
ClinGen gnomAD |
|
|
rs868019696 CA369276447 |
497 | Y>F | No |
ClinGen gnomAD |
|
|
rs1395038175 CA369276461 |
497 | Y>H | No |
ClinGen gnomAD |
|
|
CA369276417 rs1194743494 |
498 | Q>R | No |
ClinGen gnomAD |
|
|
CA369276380 rs1265131896 |
499 | S>R | No |
ClinGen TOPMed |
|
|
CA166879728 rs372800211 |
504 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA166879730 rs1007012717 |
504 | P>S | No |
ClinGen TOPMed |
|
|
VAR_042919 rs17854938 CA166879703 |
505 | H>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA369274707 rs1240784098 |
506 | Y>* | No |
ClinGen gnomAD |
|
|
rs1479210062 CA369274714 |
506 | Y>C | No |
ClinGen gnomAD |
|
|
CA369274660 rs1584667293 |
509 | I>T | No |
ClinGen Ensembl |
|
|
rs890970237 CA166879666 |
509 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA369274644 rs1446117469 |
510 | Y>S | No |
ClinGen gnomAD |
|
|
rs1052211568 CA166879650 |
511 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 511 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4482479 rs746343987 |
512 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4482478 rs781746172 |
512 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369274564 rs1345053544 |
514 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751724176 CA4482476 |
515 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4482475 rs764159252 |
516 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166877363 rs1007446346 |
523 | N>S | No |
ClinGen TOPMed |
|
|
rs747833628 CA4482460 |
524 | M>I | No |
ClinGen ExAC TOPMed |
|
|
CA369273950 rs1462250082 |
524 | M>V | No |
ClinGen TOPMed |
|
|
rs1413236811 CA369273888 |
527 | T>A | No |
ClinGen gnomAD |
|
|
CA369273800 rs1584663659 |
532 | L>R | No |
ClinGen Ensembl |
|
|
CA4482456 rs372998041 |
533 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369273743 rs1584663634 |
538 | K>E | No |
ClinGen Ensembl |
|
|
CA369273738 rs1584663621 |
538 | K>N | No |
ClinGen Ensembl |
|
|
rs746290811 CA4482455 |
542 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs746290811 CA369273716 |
542 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1410890948 CA369273697 |
544 | G>V | No |
ClinGen gnomAD |
|
|
CA369272860 rs1384345313 |
547 | N>H | No |
ClinGen gnomAD |
|
| rs1562882025 | 549 | G>F | No | Ensembl | |
|
rs1467827211 CA369272772 |
551 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1315337986 CA369272746 |
553 | V>L | No |
ClinGen gnomAD |
|
|
rs1222987761 CA369272638 |
557 | W>* | No |
ClinGen TOPMed |
|
|
CA166874494 rs767434615 |
559 | F>S | No |
ClinGen Ensembl |
|
|
CA369272556 rs1379808081 |
561 | E>A | No |
ClinGen gnomAD |
|
|
rs774129369 CA4482438 |
561 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q96SK2
No regional properties for Q96SK2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96SK2 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
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 |
|---|---|---|---|---|
| Q8BRG8 | Tmem209 | Transmembrane protein 209 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMQGEAHPSA | SLIDRTIKMR | KETEARKVVL | AWGLLNVSMA | GMIYTEMTGK | LISSYYNVTY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WPLWYIELAL | ASLFSLNALF | DFWRYFKYTV | APTSLVVSPG | QQTLLGLKTA | VVQTTPPHDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AATQIPPAPP | SPSIQGQSVL | SYSPSRSPST | SPKFTTSCMT | GYSPQLQGLS | SGGSGSYSPG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTYSPVSGYN | KLASFSPSPP | SPYPTTVGPV | ESSGLRSRYR | SSPTVYNSPT | DKEDYMTDLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLDTFLRSEE | EKQHRVKLGS | PDSTSPSSSP | TFWNYSRSMG | DYAQTLKKFQ | YQLACRSQAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CANKDEADLS | SKQAAEEVWA | RVAMNRQLLD | HMDSWTAKFR | NWINETILVP | LVQEIESVST |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QMRRMGCPEL | QIGEASITSL | KQAALVKAPL | IPTLNTIVQY | LDLTPNQEYL | FERIKELSQG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GCMSSFRWNR | GGDFKGRKWD | TDLPTDSAII | MHVFCTYLDS | RLPPHPKYPD | GKTFTSQHFV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QTPNKPDVTN | ENVFCIYQSA | INPPHYELIY | QRHVYNLPKG | RNNMFHTLLM | FLYIIKTKES |
| 550 | 560 | ||||
| GMLGRVNLGL | SGVNILWIFG | E |