Q96DM3
PR
Gene name |
RMC1 |
Protein name |
Regulator of MON1-CCZ1 complex |
Names |
Colon cancer-associated protein Mic1, Mic-1, WD repeat-containing protein 98 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29919 |
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 Q96DM3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96DM3-F1 | Predicted | AlphaFoldDB |
470 variants for Q96DM3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10647293 rs886053662 RCV000285788 |
658 | F>R | Niemann-Pick disease, type C1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA401776306 rs1204790315 |
2 | G>A | No |
ClinGen TOPMed |
|
|
CA401776297 rs1256348269 |
2 | G>C | No |
ClinGen TOPMed |
|
|
rs1271362936 CA401776323 |
3 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 3 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 4 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401776340 rs1598829608 |
4 | E>K | No |
ClinGen Ensembl |
|
|
CA8911870 rs769099314 |
5 | D>N | No |
ClinGen ExAC |
|
| TCGA novel | 6 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401776433 rs1295694600 |
7 | Y>C | No |
ClinGen TOPMed |
|
|
CA8911872 rs143953070 |
8 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1237266759 CA401776476 |
9 | E>G | No |
ClinGen gnomAD |
|
|
rs1349457011 CA401776503 |
11 | C>G | No |
ClinGen gnomAD |
|
|
CA8911874 rs773158906 |
12 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368559324 CA8911875 |
14 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401776563 rs368559324 |
14 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs563278933 CA401776579 |
15 | V>A | No |
ClinGen TOPMed |
|
|
rs563278933 CA297050987 |
15 | V>G | No |
ClinGen TOPMed |
|
|
CA401776571 rs1208881387 |
15 | V>L | No |
ClinGen gnomAD |
|
|
CA297050989 rs766522142 |
16 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1356024967 CA401776632 |
17 | F>L | No |
ClinGen TOPMed |
|
|
rs758230015 CA8911879 |
19 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8911877 rs754020386 |
19 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8911880 rs751557365 |
20 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs527584310 CA8911881 COSM1388012 |
21 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8911883 rs112277818 RCV000879467 |
22 | P>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA401776756 rs112277818 |
22 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371339575 CA8911882 |
22 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 23 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416541436 CA401776793 |
24 | N>Y | No |
ClinGen gnomAD |
|
|
rs139349114 CA8911884 |
25 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748913666 CA8911886 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA401776858 rs1567909571 |
27 | F>V | No |
ClinGen Ensembl |
|
|
rs866265496 TCGA novel CA297051007 |
28 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA8911887 rs769189517 |
30 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8911889 rs748754565 |
31 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177385524 CA401777734 |
32 | N>H | No |
ClinGen TOPMed |
|
|
CA401777752 CA401777750 rs1336710154 |
32 | N>K | No |
ClinGen gnomAD |
|
|
rs772460759 CA8911891 |
33 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321394779 CA401777787 |
34 | Q>E | No |
ClinGen gnomAD |
|
|
rs760645850 CA8911923 |
37 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766051039 CA401778091 |
39 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1212599068 COSM473682 CA401778183 |
44 | T>I | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1405779035 CA401778215 |
46 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8911927 rs765002435 |
49 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA401778357 rs1379967633 |
50 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752353259 CA8911928 |
50 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1326916698 CA401778475 |
55 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA297051403 rs752337606 |
56 | P>A | No |
ClinGen Ensembl |
|
|
rs925318441 CA297051407 |
57 | I>M | No |
ClinGen Ensembl |
|
|
CA401778492 rs1281201862 |
57 | I>V | No |
ClinGen gnomAD |
|
|
CA401779531 rs1386953796 |
63 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751969324 CA8911950 |
64 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310179271 CA401779673 |
68 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355966131 CA401779716 |
70 | I>N | No |
ClinGen gnomAD |
|
|
CA401779775 rs1443435056 |
72 | F>L | No |
ClinGen TOPMed |
|
|
CA401779810 rs1244709049 |
74 | L>* | No |
ClinGen gnomAD |
|
|
CA401779834 rs1291731740 |
75 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781689587 CA8911952 |
76 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746347209 CA8911953 |
79 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs756231382 CA8911954 |
81 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401779894 rs756231382 |
81 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401779897 rs1598839612 |
82 | Q>* | No |
ClinGen Ensembl |
|
|
rs780165634 CA8911955 |
87 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8911956 rs749537209 |
87 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774130691 CA8911968 |
89 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751177020 CA8911969 |
91 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401779994 rs1183541340 |
94 | I>T | No |
ClinGen gnomAD |
|
|
CA401780007 rs1417241963 |
96 | D>V | No |
ClinGen gnomAD |
|
|
CA401780022 rs1409190912 |
98 | S>F | No |
ClinGen gnomAD |
|
|
rs1171179823 CA401780057 |
103 | T>K | No |
ClinGen gnomAD |
|
|
rs1002897408 CA297053129 |
104 | Q>K | No |
ClinGen Ensembl |
|
|
CA401780071 rs1402174143 |
105 | E>G | No |
ClinGen gnomAD |
|
|
rs781131339 CA8911982 |
108 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs745593018 CA8911983 |
108 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769786166 CA8911984 |
109 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775245096 CA8911985 |
109 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201825808 CA8911987 |
110 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8911986 rs201825808 |
110 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401780206 rs1316372067 |
111 | A>G | No |
ClinGen gnomAD |
|
|
rs1325901246 CA401780224 |
112 | N>K | No |
ClinGen gnomAD |
|
|
rs374639318 CA8911988 |
112 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8911989 rs761437951 |
113 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8911990 rs767932485 |
116 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs945676275 CA297053588 |
117 | C>S | No |
ClinGen TOPMed |
|
|
CA401780390 rs1442241050 |
123 | E>A | No |
ClinGen TOPMed |
|
|
rs760893279 CA8911992 |
127 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs754260652 CA8911995 |
130 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs755127086 CA8911996 |
131 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779114087 CA8911997 COSM1189655 |
132 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM987069 CA8911998 rs753034758 |
133 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA401780606 rs1217258427 |
135 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1180632068 CA401782283 |
139 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8912013 rs766622385 |
142 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA401782411 rs1202666581 |
146 | L>F | No |
ClinGen TOPMed |
|
|
rs777245200 CA8912014 |
147 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs759956191 CA8912015 |
148 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401782512 rs1393337035 |
150 | H>Y | No |
ClinGen gnomAD |
|
|
rs1408519644 CA401782545 |
151 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339387243 CA401782588 |
153 | N>S | No |
ClinGen gnomAD |
|
|
CA8912018 rs758501055 |
156 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA401782703 rs1384735165 |
158 | M>L | No |
ClinGen TOPMed |
|
|
CA401782713 rs1310480256 |
158 | M>T | No |
ClinGen TOPMed |
|
|
CA401782734 rs1395443182 |
159 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751697840 CA8912020 |
162 | E>D | No |
ClinGen ExAC |
|
|
COSM1198293 rs1310886027 CA401782799 |
162 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs191243720 CA8912021 |
163 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191243720 CA8912022 |
163 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1388014 rs1265896597 CA401782848 |
164 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8912024 rs754879938 |
164 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747682077 CA8912026 |
170 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401783013 rs1458422250 |
171 | T>M | No |
ClinGen gnomAD |
|
|
CA8912029 rs746621442 |
174 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292691698 CA401783125 |
177 | L>P | No |
ClinGen TOPMed |
|
|
CA8912031 rs776864076 |
181 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912030 rs149489770 |
181 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8912049 rs145956918 |
185 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777135810 CA8912048 |
185 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401783884 rs139940827 |
186 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139940827 CA8912050 |
186 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780846585 CA8912051 |
188 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401783909 rs1598869107 |
190 | L>M | No |
ClinGen Ensembl |
|
|
CA8912052 rs143371359 |
191 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297436166 CA401783949 |
195 | I>M | No |
ClinGen gnomAD |
|
|
CA401783947 rs1329664929 |
195 | I>T | No |
ClinGen TOPMed |
|
|
CA8912054 rs533549598 |
196 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770250549 CA8912053 |
196 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553858189 CA8912055 |
198 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146281079 CA8912058 |
199 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146281079 CA8912057 |
199 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374149112 CA8912059 |
200 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759368123 CA8912061 |
201 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348211595 CA401783979 |
201 | P>S | No |
ClinGen gnomAD |
|
|
rs1216536321 CA401783983 |
202 | K>Q | No |
ClinGen gnomAD |
|
|
CA8912062 rs201270524 |
206 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA297061192 rs201270524 |
206 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201270524 CA297061191 |
206 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA401784018 rs1489492776 |
207 | S>T | No |
ClinGen gnomAD |
|
|
CA401784042 rs1267081634 |
211 | R>G | No |
ClinGen gnomAD |
|
|
rs1432296618 CA401784044 |
211 | R>K | No |
ClinGen gnomAD |
|
|
CA401784047 rs758328006 |
211 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA401784049 rs1378868378 |
212 | D>N | No |
ClinGen gnomAD |
|
|
rs777708274 CA8912065 |
213 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1567920675 CA401784059 |
213 | I>T | No |
ClinGen Ensembl |
|
|
rs777708274 CA8912066 |
213 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA401784063 rs368667300 |
214 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368667300 CA8912067 |
214 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401784064 rs1236868878 |
214 | A>V | No |
ClinGen TOPMed |
|
|
rs148477145 CA8912069 |
215 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8912070 rs201621222 |
216 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA297061249 rs978826640 |
218 | I>T | No |
ClinGen Ensembl |
|
|
rs1483760695 CA401784087 |
218 | I>V | No |
ClinGen TOPMed |
|
|
rs974279018 CA297063238 |
220 | G>E | No |
ClinGen Ensembl |
|
|
CA8912089 rs755828006 |
220 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401784481 COSM1388017 rs1310152930 |
224 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA401784540 rs1227112419 |
226 | F>C | No |
ClinGen gnomAD |
|
|
CA401784652 rs1327244271 |
229 | H>Q | No |
ClinGen TOPMed |
|
|
rs142654383 CA8912094 |
230 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 230 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376189098 CA297063300 |
232 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs748668552 CA8912095 |
232 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401784732 rs1454467220 |
233 | T>N | No |
ClinGen TOPMed |
|
|
CA401784767 rs1365785221 |
234 | S>C | No |
ClinGen TOPMed |
|
|
rs772103682 CA401784803 |
235 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773276348 CA8912097 |
238 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1388018 CA8912098 rs747025423 |
239 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 240 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598878124 CA401784944 |
241 | V>G | No |
ClinGen Ensembl |
|
|
rs1469394649 CA401784960 |
243 | L>F | No |
ClinGen TOPMed |
|
|
rs762774870 CA8912101 |
244 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8912100 rs776793684 |
244 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297063344 rs970781284 |
245 | H>R | No |
ClinGen TOPMed |
|
|
CA8912102 rs763926463 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567922945 CA401785036 |
248 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 249 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359752563 CA401785144 |
249 | E>K | No |
ClinGen gnomAD |
|
|
rs1450908245 CA401785168 |
250 | G>S | No |
ClinGen gnomAD |
|
|
rs1462307560 CA401785198 |
251 | A>V | No |
ClinGen Ensembl |
|
|
CA8912120 rs746086714 |
254 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1400962466 CA401785295 |
255 | M>I | No |
ClinGen gnomAD |
|
|
rs1340355442 CA401785290 |
255 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8912121 rs534549693 |
256 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401785352 rs1281447734 |
257 | I>M | No |
ClinGen TOPMed |
|
|
rs1268539979 CA401785345 |
257 | I>T | No |
ClinGen gnomAD |
|
|
CA297063496 rs1018330418 |
257 | I>V | No |
ClinGen TOPMed |
|
|
CA8912124 rs372391248 |
261 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202070090 CA8912126 |
263 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA297063530 rs867666714 |
267 | A>V | No |
ClinGen Ensembl |
|
|
rs764730840 CA8912131 |
270 | V>M | No |
ClinGen ExAC |
|
|
CA401785764 rs1567923201 |
273 | N>H | No |
ClinGen Ensembl |
|
|
CA401785773 rs1313199699 |
273 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1448347988 CA401785817 |
275 | V>I | No |
ClinGen gnomAD |
|
|
CA8912134 rs187677149 |
276 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8912136 rs757383487 |
277 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781241792 CA297063602 |
279 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781241792 CA8912137 |
279 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912162 rs764268227 |
284 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401786104 rs1229210958 |
285 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1196910905 CA401786108 |
286 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8912166 rs112752406 |
288 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM987076 CA8912167 rs750535643 |
289 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745884709 CA297064363 |
291 | K>R | No |
ClinGen Ensembl |
|
|
rs1567924388 CA401786147 |
292 | L>I | No |
ClinGen Ensembl |
|
|
CA401786156 rs749451554 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749451554 CA8912170 |
293 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780368046 CA8912169 |
293 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777706980 CA8912172 |
294 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs772053520 CA8912171 |
294 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM73904 CA8912174 rs771005240 |
298 | G>S | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8912177 rs769164405 |
300 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762588766 CA8912179 |
303 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284575340 CA401786217 |
303 | H>Y | No |
ClinGen gnomAD |
|
|
CA401786224 rs1598882457 |
304 | H>P | No |
ClinGen Ensembl |
|
|
rs763666618 CA8912180 |
304 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8912181 rs147691863 |
305 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8912185 rs146723809 |
306 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8912184 rs146723809 |
306 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211401171 CA401786249 |
308 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 308 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401786255 rs1442360066 |
309 | A>V | No |
ClinGen gnomAD |
|
|
CA8912187 rs754159771 |
310 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8912188 rs149011489 |
310 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA297064470 rs957858635 |
311 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1306388416 CA401786270 |
312 | I>M | No |
ClinGen TOPMed |
|
|
rs779222190 CA8912189 |
313 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA401786287 rs1462137158 |
315 | Y>C | No |
ClinGen gnomAD |
|
|
rs746822630 CA8912190 |
315 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA401786296 rs1445412963 |
316 | Q>H | No |
ClinGen TOPMed |
|
|
CA8912191 rs757079651 |
316 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs368305336 CA297064518 |
317 | I>M | No |
ClinGen gnomAD |
|
|
CA297064523 rs993594786 |
318 | P>L | No |
ClinGen gnomAD |
|
|
CA401786308 rs993594786 |
318 | P>R | No |
ClinGen gnomAD |
|
|
rs1027717145 CA297064529 |
320 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779871462 CA297064535 |
320 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 322 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401787116 rs1156781513 |
324 | A>P | No |
ClinGen TOPMed |
|
|
CA8912213 rs143803533 |
325 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8912215 rs779988837 |
326 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA401787198 rs1441848421 |
329 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401787247 rs1208985494 |
333 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 339 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598896545 CA401787797 |
340 | W>C | No |
ClinGen Ensembl |
|
|
CA401787800 rs1274126210 |
341 | I>F | No |
ClinGen TOPMed |
|
|
rs200566715 CA8912243 |
344 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912244 rs147982431 |
347 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1416973722 CA401787868 |
351 | A>T | No |
ClinGen gnomAD |
|
|
CA297067753 rs911401933 |
351 | A>V | No |
ClinGen TOPMed |
|
|
rs775724739 CA8912246 |
352 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315699550 CA401787884 |
353 | Q>R | No |
ClinGen gnomAD |
|
|
CA401787905 rs1348519777 |
354 | G>A | No |
ClinGen gnomAD |
|
|
rs762981159 CA8912267 |
357 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768755307 CA8912268 |
358 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs906906901 CA297071548 |
361 | V>M | No |
ClinGen Ensembl |
|
|
rs1387947359 CA401787958 |
362 | K>I | No |
ClinGen TOPMed |
|
|
rs774497393 CA8912269 |
362 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776428067 CA8912272 |
366 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767664092 CA8912271 |
366 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8912274 rs765190813 |
368 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912275 rs752651387 |
368 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8912276 rs757896047 |
369 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs750965677 CA8912278 |
370 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs756983985 CA8912281 |
375 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1236478274 CA401788044 |
376 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1567931513 CA401788053 |
377 | M>T | No |
ClinGen Ensembl |
|
|
rs138572658 CA8912282 |
377 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401788065 rs368012391 |
378 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401788067 rs1224157898 |
379 | F>L | No |
ClinGen gnomAD |
|
|
rs1266729709 CA401788076 |
380 | L>F | No |
ClinGen TOPMed |
|
|
CA401788081 rs1450091331 |
381 | L>F | No |
ClinGen gnomAD |
|
|
rs1253773908 CA401788092 |
382 | Q>H | No |
ClinGen gnomAD |
|
|
rs1469863514 CA401788105 |
384 | K>R | No |
ClinGen gnomAD |
|
|
rs1469863514 CA401788104 |
384 | K>T | No |
ClinGen gnomAD |
|
|
CA297071581 rs774371052 |
386 | C>G | No |
ClinGen gnomAD |
|
|
CA401788118 rs774371052 |
386 | C>R | No |
ClinGen gnomAD |
|
|
CA297071582 rs959055112 |
386 | C>S | No |
ClinGen TOPMed |
|
|
rs761703858 CA8912285 |
388 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183693994 CA401788165 |
393 | V>L | No |
ClinGen Ensembl |
|
|
rs768688226 CA8912287 |
394 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA8912289 rs748172492 |
395 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA297072173 rs979061776 |
397 | M>I | No |
ClinGen gnomAD |
|
|
CA8912313 rs770989841 |
400 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA401788239 rs1168104356 |
402 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1372051532 CA401788263 |
405 | S>L | No |
ClinGen gnomAD |
|
|
CA8912316 rs752130632 |
407 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401788274 rs1321939725 |
408 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA401788284 rs1433963745 |
409 | I>T | No |
ClinGen gnomAD |
|
|
rs1398446278 CA401788314 |
414 | D>Y | No |
ClinGen gnomAD |
|
|
CA401788322 rs1295097768 |
415 | K>E | No |
ClinGen gnomAD |
|
|
rs1327141572 CA401788330 |
416 | L>V | No |
ClinGen gnomAD |
|
|
rs767119045 CA8912319 |
418 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1273098326 CA401788344 |
418 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212138921 CA401788362 |
420 | Y>C | No |
ClinGen gnomAD |
|
|
CA401788390 rs1487501641 |
424 | L>M | No |
ClinGen gnomAD |
|
|
rs960059692 CA297072209 |
425 | D>E | No |
ClinGen TOPMed |
|
|
rs1567933129 CA401788399 |
425 | D>G | No |
ClinGen Ensembl |
|
|
CA297072212 rs34497438 |
427 | E>D | No |
ClinGen Ensembl |
|
|
CA8912323 rs537587108 |
427 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755262971 CA8912324 |
430 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs373377494 CA297072216 |
431 | A>T | No |
ClinGen gnomAD |
|
|
CA8912326 rs139487898 COSM987080 |
431 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764805572 CA8912363 |
433 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764805572 CA401788681 |
433 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775853729 CA8912364 |
433 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764625487 CA8912366 |
434 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752038856 CA8912367 |
436 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8912368 rs757411563 |
437 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1162482753 CA401788713 |
438 | Q>R | No |
ClinGen gnomAD |
|
|
CA8912369 rs1652374 |
439 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361394734 CA401788724 |
440 | R>* | No |
ClinGen TOPMed |
|
|
rs1462114443 CA401788725 |
440 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1167199484 CA401788730 |
441 | S>G | No |
ClinGen gnomAD |
|
|
rs1245244357 CA401788731 |
441 | S>N | No |
ClinGen TOPMed |
|
|
rs1461975214 CA401788749 |
443 | P>L | No |
ClinGen gnomAD |
|
|
rs1299224447 CA401788752 COSM3378464 |
444 | L>F | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs756302278 CA8912372 |
445 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA297072929 rs943296387 |
446 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1303401410 CA401788766 |
446 | K>N | No |
ClinGen TOPMed |
|
|
CA401788765 rs943296387 |
446 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8912373 rs780377353 |
448 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866245801 CA297072932 |
448 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8912375 rs758240733 |
450 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8912374 rs747991509 |
450 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912376 rs777907083 |
452 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1251850468 CA401788803 |
453 | A>E | No |
ClinGen gnomAD |
|
|
CA8912377 rs746907912 |
453 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251850468 CA401788805 |
453 | A>V | No |
ClinGen gnomAD |
|
|
CA8912380 rs745331500 |
454 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8912379 rs776010486 |
454 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA297072951 rs1033185267 |
455 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8912381 rs769466031 |
458 | S>A | No |
ClinGen ExAC |
|
|
CA401788890 rs1427958362 |
467 | A>P | No |
ClinGen gnomAD |
|
|
rs763356885 CA8912383 |
468 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1788825 CA297072999 CA401788899 |
468 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8912387 rs550746772 |
469 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs144103523 CA8912386 CA8912385 |
469 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144103523 CA401788900 |
469 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401788912 rs1376438407 |
471 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8912423 rs750343587 |
474 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1407710049 CA401788966 |
476 | H>Q | No |
ClinGen gnomAD |
|
|
CA297073172 rs773145224 |
476 | H>R | No |
ClinGen gnomAD |
|
|
rs755687390 CA8912424 |
476 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779543752 CA401788984 CA8912425 |
479 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779543752 CA401788983 |
479 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297073177 rs974010916 |
480 | I>K | No |
ClinGen gnomAD |
|
|
CA401788990 rs974010916 |
480 | I>T | No |
ClinGen gnomAD |
|
|
CA8912426 rs748736739 |
480 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1438121334 CA401788997 |
481 | A>V | No |
ClinGen gnomAD |
|
|
CA297073181 rs919871887 |
482 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1438435687 CA401789013 |
484 | M>T | No |
ClinGen gnomAD |
|
|
CA8912429 rs748503941 |
487 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912430 COSM1750471 rs772461731 |
488 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1244502690 CA401789042 |
488 | R>H | No |
ClinGen TOPMed |
|
|
rs773650074 CA8912431 |
491 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8912433 rs771501685 |
493 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198774407 CA401789099 |
496 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759642405 CA8912435 |
498 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs896211734 CA297073216 |
498 | Q>R | No |
ClinGen Ensembl |
|
|
rs1485536626 CA401789151 |
502 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765549598 CA297073433 |
504 | L>F | No |
ClinGen Ensembl |
|
|
rs1231009441 CA401789165 |
504 | L>P | No |
ClinGen gnomAD |
|
|
rs766345369 CA8912468 |
505 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1443736375 CA401789176 |
506 | I>T | No |
ClinGen gnomAD |
|
|
CA401789191 rs1428247514 |
508 | T>S | No |
ClinGen TOPMed |
|
|
CA401789203 rs1164820747 |
510 | V>G | No |
ClinGen TOPMed |
|
|
rs754505702 CA8912470 |
510 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752086610 CA8912472 |
511 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA401789213 rs1393087194 |
512 | H>Y | No |
ClinGen gnomAD |
|
|
rs377450770 CA8912473 |
513 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401789227 COSM1522530 rs1404640755 |
514 | L>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8912475 rs747411365 |
515 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA297073459 rs866076209 |
516 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA401789251 rs1327082645 |
517 | M>K | No |
ClinGen gnomAD |
|
|
CA401789249 rs1327082645 |
517 | M>T | No |
ClinGen gnomAD |
|
|
CA8912477 rs781778415 |
519 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA297073460 rs527304363 |
520 | Q>* | No |
ClinGen 1000Genomes |
|
| TCGA novel | 521 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs73967112 CA8912480 |
526 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 528 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768953135 CA8912482 |
529 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401789338 rs1273782680 |
530 | S>A | No |
ClinGen TOPMed |
|
|
rs781690156 CA8912500 |
535 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA297073548 rs961779329 |
539 | S>P | No |
ClinGen TOPMed |
|
|
CA401789411 rs1162882322 |
540 | L>V | No |
ClinGen gnomAD |
|
|
CA297073557 rs866152463 |
541 | E>K | No |
ClinGen TOPMed |
|
|
CA401789415 rs866152463 |
541 | E>Q | No |
ClinGen TOPMed |
|
|
rs756666235 CA8912502 |
543 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA297073563 rs995438493 |
544 | Y>C | No |
ClinGen Ensembl |
|
|
rs200032808 CA297073566 |
545 | P>S | No |
ClinGen Ensembl |
|
|
rs1371764248 CA401789466 |
548 | H>P | No |
ClinGen gnomAD |
|
|
CA401789474 rs1222963933 |
549 | Q>H | No |
ClinGen TOPMed |
|
|
CA297073574 rs949903813 |
549 | Q>P | No |
ClinGen TOPMed |
|
|
rs749424259 CA8912504 |
550 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1045572626 CA297073584 |
553 | D>N | No |
ClinGen TOPMed |
|
|
rs748366615 CA8912507 |
554 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA297073653 rs866254778 |
557 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1396419968 CA401789532 |
557 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769460645 CA8912532 |
559 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA401789559 rs1417461454 |
562 | N>D | No |
ClinGen gnomAD |
|
|
CA8912533 rs775562196 |
565 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA297073677 rs1053412773 |
565 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 566 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401789625 rs1312600290 |
572 | K>Q | No |
ClinGen gnomAD |
|
|
CA8912536 rs774020771 |
573 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1358230446 CA401789638 |
573 | H>R | No |
ClinGen gnomAD |
|
|
rs1304145057 CA401789644 |
574 | Q>R | No |
ClinGen gnomAD |
|
|
rs768885449 CA297073699 |
577 | A>P | No |
ClinGen gnomAD |
|
|
rs768885449 CA401789662 |
577 | A>T | No |
ClinGen gnomAD |
|
|
rs1231828195 CA401789681 |
580 | R>K | No |
ClinGen gnomAD |
|
|
rs779048985 CA297073701 |
581 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8912540 rs761161083 |
583 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8912539 COSM1388023 rs772715965 |
583 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8912542 rs754165861 |
584 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs755489679 CA8912543 |
585 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912544 rs765688018 |
588 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1018457014 CA297073721 |
589 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 592 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401789761 rs1375779638 |
593 | A>T | No |
ClinGen TOPMed |
|
|
CA401789768 rs758443339 |
594 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8912548 rs778109735 |
594 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567937577 CA401789782 |
596 | F>Y | No |
ClinGen Ensembl |
|
|
rs1177751350 CA401789799 |
598 | D>G | No |
ClinGen gnomAD |
|
|
rs778625270 CA8912549 COSM987082 |
599 | A>T | endometrium Variant assessed as Somatic; 0.0005543 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757431665 CA8912550 |
605 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779721868 CA8912551 |
606 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367274353 CA401789874 |
607 | M>V | No |
ClinGen gnomAD |
|
|
CA401789913 rs1274093021 |
611 | T>I | No |
ClinGen gnomAD |
|
|
rs1307094632 CA401789921 |
612 | I>T | No |
ClinGen gnomAD |
|
|
CA8912553 rs371338099 |
614 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1228457877 COSM987083 CA8912554 |
614 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs79533717 CA297073754 |
616 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297073758 rs80213848 |
617 | E>* | No |
ClinGen Ensembl |
|
|
CA401789970 rs1270019288 |
618 | Q>R | No |
ClinGen gnomAD |
|
|
rs1354688245 CA401789976 |
619 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs374790771 CA8912558 |
619 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401789992 rs944196369 |
621 | Q>* | No |
ClinGen TOPMed |
|
|
CA401789996 rs772985708 CA8912560 |
621 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297073760 rs944196369 |
621 | Q>K | No |
ClinGen TOPMed |
|
|
CA8912561 rs760250700 |
622 | R>H | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA401790016 rs1175800665 |
624 | R>* | No |
ClinGen gnomAD |
|
|
rs766000038 CA8912562 |
624 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1383706760 CA401790022 |
625 | G>R | No |
ClinGen TOPMed |
|
|
CA8912564 rs534209336 |
630 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1233030878 CA401790104 |
633 | E>K | No |
ClinGen gnomAD |
|
|
rs756185917 CA8912588 |
635 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 643 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401790202 rs1292029938 |
644 | Q>* | No |
ClinGen TOPMed |
|
|
CA8912589 rs763380548 |
645 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA401790239 rs1274437802 |
648 | D>G | No |
ClinGen gnomAD |
|
|
CA297074537 rs899189709 |
649 | Q>H | No |
ClinGen TOPMed |
|
|
rs764608473 CA8912590 |
650 | A>V | No |
ClinGen ExAC |
|
|
rs369574306 CA297074559 |
652 | M>I | No |
ClinGen ESP |
|
|
CA8912591 rs751618341 |
652 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8912593 rs144687654 |
652 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144687654 CA401790269 |
652 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8912592 rs751618341 |
652 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA401790274 rs1440279530 |
653 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1046907199 CA297074577 |
655 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750659004 CA8912594 |
655 | T>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96DM3
1 regional properties for Q96DM3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Regulator of MON1-CCZ1 complex, C-terminal | 476 - 630 | IPR009755 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| Mon1-Ccz1 complex | A protein complex that functions as a guanine nucleotide exchange factor (GEF) and converts Rab-GDP to Rab-GTP. In S. cerevisiae, this complex consists of at least Mon1 and Ccz1, and serves as a GEF for the Rab Ypt7p. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| regulation of autophagy | Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8VC42 | Rmc1 | Regulator of MON1-CCZ1 complex | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEEDYYLEL | CERPVQFEKA | NPVNCVFFDE | ANKQVFAVRS | GGATGVVVKG | PDDRNPISFR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MDDKGEVKCI | KFSLENKILA | VQRTSKTVDF | CNFIPDNSQL | EYTQECKTKN | ANILGFCWTS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| STEIVFITDQ | GIEFYQVLPE | KRSLKLLKSH | NLNVNWYMYC | PESAVILLST | TVLENVLQPF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HFRAGTMSKL | PKFEIELPAA | PKSTKPSLSE | RDIAMATIYG | QLYVLFLRHH | SRTSNSTGAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VVLYHLPREG | ACKKMHILKL | NRTGKFALNV | VDNLVVVHHQ | DTETSVIFDI | KLRGEFDGSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TFHHPVLPAR | SIQPYQIPIT | GPAAVTSQSP | VPCKLYSSSW | IVFQPDIIIS | ASQGYLWNLQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VKLEPIVNLL | PDKGRLMDFL | LQRKECKMVI | LSVCSQMLSE | SDRASLPVIA | TVFDKLNHEY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KKYLDAEQSY | AMAVEAGQSR | SSPLLKRPVR | TQAVLDQSDV | YTHVLSAFVE | KKEMPHKFVI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AVLMEYIRSL | NQFQIAVQHY | LHELVIKTLV | QHNLFYMLHQ | FLQYHVLSDS | KPLACLLLSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ESFYPPAHQL | SLDMLKRLST | ANDEIVEVLL | SKHQVLAALR | FIRGIGGHDN | ISARKFLDAA |
| 610 | 620 | 630 | 640 | 650 | |
| KQTEDNMLFY | TIFRFFEQRN | QRLRGSPNFT | PGEHCEEHVA | FFKQIFGDQA | LMRPTTF |