Q68DH5
PR
Gene name |
LMBRD2 |
Protein name |
G-protein coupled receptor-associated protein LMBRD2 |
Names |
LMBR1 domain-containing protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:92255 |
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 Q68DH5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q68DH5-F1 | Predicted | AlphaFoldDB |
437 variants for Q68DH5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086730 | 123 | W>R | DENBA [UniProt] | Yes | UniProt |
| VAR_086731 | 178 | E>K | DENBA; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086732 | 193 | W>R | DENBA; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1581052047 VAR_086733 RCV000998368 CA359449214 |
274 | K>E | DENBA; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_086734 | 326 | Q>E | DENBA; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086735 | 479 | M>R | DENBA; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001261973 rs1743709062 RCV003151845 |
483 | R>C | Developmental delay Developmental delay with variable neurologic and brain abnormalities [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086736 | 483 | R>H | DENBA [UniProt] | Yes | UniProt |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313232759 CA359455018 |
2 | S>T | No |
ClinGen TOPMed |
|
|
rs1316916665 CA359455011 |
3 | G>D | No |
ClinGen TOPMed |
|
|
rs760753088 CA3233968 |
5 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196293700 CA359454996 |
6 | L>V | No |
ClinGen TOPMed |
|
|
CA359454982 rs1457783550 |
8 | L>F | No |
ClinGen TOPMed |
|
|
CA3233967 rs750333141 |
9 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs560557664 CA3233966 |
10 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3233965 rs373517527 |
14 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs778753685 | 16 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM186551 CA117001268 rs938938053 |
17 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs762498312 CA3233961 COSM1695606 |
23 | R>* | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359454831 rs1260555708 |
23 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117001261 rs980422311 |
27 | F>L | No |
ClinGen Ensembl |
|
|
CA3233959 rs146504133 |
28 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA117001258 rs1022833722 |
31 | H>P | No |
ClinGen TOPMed |
|
|
CA359454720 rs778796446 |
31 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359454707 rs1334341354 COSM1213475 |
32 | R>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3233957 rs773874214 |
35 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3233956 rs772687998 |
36 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3233955 rs200304600 |
37 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112631471 CA117001235 |
40 | L>P | No |
ClinGen Ensembl |
|
|
CA3233953 rs755288664 |
41 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372902528 CA359454590 |
42 | W>L | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326563780 CA359454561 |
45 | C>Y | No |
ClinGen gnomAD |
|
|
CA359454557 rs1387997447 |
46 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749488150 CA3233952 |
47 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs780257676 CA3233951 |
49 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1372156238 CA359454531 |
50 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233949 rs750467152 |
53 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757181435 CA3233947 |
58 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1419807734 CA359454449 |
59 | T>S | No |
ClinGen gnomAD |
|
|
CA117000838 rs974720391 |
61 | Y>H | No |
ClinGen Ensembl |
|
|
rs1399721427 CA359454406 |
62 | N>S | No |
ClinGen TOPMed |
|
|
CA359454407 rs1399721427 |
62 | N>T | No |
ClinGen TOPMed |
|
|
rs768908876 CA3233936 |
62 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780162224 CA3233934 |
63 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs756328573 CA3233933 |
66 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746013624 CA3233932 |
66 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756328573 CA359454350 |
66 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117000821 rs968602877 |
68 | A>T | No |
ClinGen Ensembl |
|
|
rs1281274654 CA359454319 |
69 | A>T | No |
ClinGen gnomAD |
|
|
CA3233930 rs757267487 |
70 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334714153 CA359454256 |
73 | P>A | No |
ClinGen gnomAD |
|
|
rs751500190 CA3233929 |
73 | P>L | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 73 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359454246 rs1285878457 |
74 | P>S | No |
ClinGen gnomAD |
|
|
CA359454163 rs1319702368 |
79 | I>M | No |
ClinGen TOPMed |
|
|
CA359454148 rs1414265217 |
82 | L>W | No |
ClinGen gnomAD |
|
|
rs1234815416 CA359454143 |
83 | Y>N | No |
ClinGen TOPMed |
|
|
rs748136443 CA3233924 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs956135633 CA117000809 |
84 | A>V | No |
ClinGen Ensembl |
|
|
CA117000800 rs200866452 |
87 | N>D | No |
ClinGen Ensembl |
|
|
CA3233923 rs776342319 |
87 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760198682 CA3233921 |
88 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1035751846 CA117000784 |
90 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3233903 rs78598767 RCV000958787 |
92 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359453778 rs1215482617 |
100 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3233900 rs141490027 |
102 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359453735 rs1288488728 |
107 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs892856734 CA117000305 |
108 | P>Q | No |
ClinGen Ensembl |
|
|
rs151219919 CA3233899 |
109 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359453692 rs1270352557 |
113 | V>I | No |
ClinGen gnomAD |
|
|
CA3233896 rs775801702 |
117 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117000291 rs999072045 |
118 | S>* | No |
ClinGen Ensembl |
|
|
CA3233893 rs776857573 |
121 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs771115979 CA3233892 |
123 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1579523418 CA359453211 |
125 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1213473 rs866765522 CA116998509 |
130 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774368648 CA3233866 |
132 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359453089 rs1462007491 |
132 | Y>H | No |
ClinGen TOPMed |
|
|
CA3233864 rs749135279 |
136 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1579523371 CA917451548 |
137 | G>H | No |
ClinGen Ensembl |
|
|
rs779992299 CA3233863 |
140 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233862 rs750782154 |
141 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561521631 CA359452953 |
142 | G>E | No |
ClinGen Ensembl |
|
|
rs571776928 CA116998474 |
146 | T>P | No |
ClinGen 1000Genomes |
|
|
CA359452878 rs1579523315 |
147 | A>T | No |
ClinGen Ensembl |
|
|
CA3233859 rs756811839 |
152 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA359452727 rs1466415366 |
153 | I>T | No |
ClinGen gnomAD |
|
|
CA359452690 rs1402339333 |
155 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA359452697 rs1173921204 |
155 | Y>H | No |
ClinGen gnomAD |
|
|
rs765769786 CA3233857 |
162 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs755470410 CA3233856 |
163 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs754263493 CA3233855 |
164 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469266853 CA359452540 COSM1067602 |
164 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 164 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116998449 rs927787669 |
167 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359452482 rs1483816808 |
168 | Y>D | No |
ClinGen gnomAD |
|
|
CA359452474 rs1255750508 |
169 | V>I | No |
ClinGen gnomAD |
|
|
CA359452462 rs1324393910 |
171 | V>I | No |
ClinGen TOPMed |
|
|
CA3233854 rs766748249 |
174 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1319274626 CA359452428 |
176 | H>N | No |
ClinGen gnomAD |
|
|
rs144662594 CA3233853 |
179 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359452382 rs1245558962 |
180 | N>T | No |
ClinGen gnomAD |
|
|
CA3233837 rs370431372 |
181 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359452372 rs1348872601 |
181 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM482762 CA3233836 rs754351558 |
182 | L>P | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1365660742 CA359452361 |
183 | Q>R | No |
ClinGen gnomAD |
|
|
rs757409783 CA3233835 |
185 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359452337 rs1288453587 |
187 | I>L | No |
ClinGen gnomAD |
|
|
CA116998005 rs199947219 |
198 | L>P | No |
ClinGen 1000Genomes |
|
|
rs767822682 CA3233831 |
204 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs77314962 CA3233829 |
206 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233828 rs764272758 |
207 | V>G | No |
ClinGen ExAC |
|
| TCGA novel | 208 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463958156 CA359452201 |
208 | E>G | No |
ClinGen gnomAD |
|
|
rs775589686 CA3233826 |
209 | I>N | No |
ClinGen ExAC |
|
|
CA359452195 rs1439287418 |
209 | I>V | No |
ClinGen gnomAD |
|
|
rs769593989 CA3233825 |
210 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1488162582 CA359452177 |
211 | R>* | No |
ClinGen gnomAD |
|
|
CA359452172 rs759413826 |
211 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3233824 rs759413826 |
211 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1671585 rs1342670796 CA359452150 |
213 | Y>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA116997902 rs867741622 |
213 | Y>H | No |
ClinGen gnomAD |
|
|
rs1554082826 CA359452137 |
214 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA359452142 rs1296560977 |
214 | W>* | No |
ClinGen gnomAD |
|
|
rs368205857 CA116997899 |
214 | W>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA359452140 rs1296560977 |
214 | W>S | No |
ClinGen gnomAD |
|
|
rs1554082825 CA359452120 |
215 | N>K | No |
ClinGen Ensembl |
|
|
rs1554082823 CA359452105 |
216 | G>E | No |
ClinGen Ensembl |
|
|
rs1554082824 CA359452118 |
216 | G>R | No |
ClinGen Ensembl |
|
|
CA359452085 rs1367498961 |
217 | A>E | No |
ClinGen TOPMed |
|
|
rs1554082820 CA359452096 |
217 | A>T | No |
ClinGen Ensembl |
|
|
CA359452058 rs1225850634 |
218 | K>N | No |
ClinGen gnomAD |
|
|
rs1433500483 CA359452055 |
219 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3233822 rs770671334 |
219 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs753933353 CA116997894 |
220 | G>C | No |
ClinGen Ensembl |
|
|
CA3233821 rs574052902 |
220 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3233820 rs574052902 |
220 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA116997890 rs144958656 |
222 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1299574018 CA359451947 |
224 | M>R | No |
ClinGen gnomAD |
|
|
rs747610616 CA3233818 |
226 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359451804 rs928568963 |
233 | L>M | No |
ClinGen TOPMed |
|
|
rs1579522274 CA359451780 |
234 | M>I | No |
ClinGen Ensembl |
|
|
rs1447985449 CA359451786 |
234 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 242 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756549753 CA3233816 |
243 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA359451613 rs1490682876 |
244 | L>W | No |
ClinGen TOPMed |
|
|
CA359451557 rs1265333008 |
248 | M>V | No |
ClinGen gnomAD |
|
|
CA359449374 rs1256555316 |
251 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA359449373 rs1256555316 |
251 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs139182630 COSM176263 CA3233801 |
252 | R>C | kidney NS large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3233800 rs747697883 |
252 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581052104 CA359449321 |
258 | I>M | No |
ClinGen Ensembl |
|
|
CA3233799 rs778285047 |
260 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770391243 CA3233797 |
263 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359449280 rs1335311726 |
264 | L>W | No |
ClinGen gnomAD |
|
|
CA3233795 rs781695060 |
265 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148924369 CA3233794 |
271 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 274 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777052070 CA3233772 |
275 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA3233773 rs748783096 |
275 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233774 rs748783096 |
275 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318642078 CA359449188 |
276 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3233771 rs771532324 |
277 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747441804 CA3233770 |
278 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs191711543 CA359449173 |
278 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1581051263 CA359449164 |
280 | Q>K | No |
ClinGen Ensembl |
|
|
CA116990392 rs987936021 |
281 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758775721 CA3233768 |
281 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs374425943 CA3233767 |
283 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA3233766 rs779159434 |
284 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3233765 rs371285607 |
285 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359449128 rs1408149156 |
285 | R>K | No |
ClinGen TOPMed |
|
|
rs1581051220 CA359449117 |
286 | N>K | No |
ClinGen Ensembl |
|
|
CA359449086 rs1561516726 |
290 | Y>C | No |
ClinGen Ensembl |
|
|
rs1288771664 CA359449057 |
294 | D>H | No |
ClinGen gnomAD |
|
|
rs1288771664 CA359449058 |
294 | D>N | No |
ClinGen gnomAD |
|
|
rs1357791726 CA359449044 |
295 | E>D | No |
ClinGen gnomAD |
|
|
rs1207674557 CA359449050 |
295 | E>K | No |
ClinGen gnomAD |
|
|
rs753936093 CA3233764 |
296 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs753936093 CA359449038 |
296 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766270311 CA3233763 |
297 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756041545 CA3233762 COSM737928 |
298 | S>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3233761 rs146190853 |
298 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377639364 CA3233759 |
299 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377639364 CA3233760 |
299 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359449013 rs1561516689 |
300 | Y>C | No |
ClinGen Ensembl |
|
|
rs1350531462 CA359449017 |
300 | Y>N | No |
ClinGen gnomAD |
|
|
CA359449005 rs773895448 |
301 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773895448 CA3233758 |
301 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM737929 rs1581051139 CA359449009 |
301 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3233757 rs763778332 |
305 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3233756 rs762410355 |
305 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334349269 CA359448938 |
311 | K>R | No |
ClinGen TOPMed |
|
|
CA359448931 rs1581051087 |
312 | Q>R | No |
ClinGen Ensembl |
|
|
CA116989839 rs969701244 |
315 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 318 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252172317 CA359448842 |
318 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267600613 CA3233738 |
321 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751337379 CA3233737 |
321 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3233736 rs763720616 |
322 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1067600 rs762650524 CA3233735 |
322 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778407107 CA116989826 |
324 | Q>E | No |
ClinGen Ensembl |
|
|
rs1212269668 CA359448719 |
327 | W>* | No |
ClinGen gnomAD |
|
|
CA3233734 rs752229654 |
327 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA359448688 rs1387232057 |
329 | I>T | No |
ClinGen TOPMed |
|
|
COSM1695604 rs1221770421 CA359448681 |
330 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA359448660 rs1289272215 |
331 | L>F | No |
ClinGen gnomAD |
|
|
rs764841047 CA3233733 |
331 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs759073329 CA3233732 |
332 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359448636 rs1371406132 |
333 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1027566149 CA116989796 |
334 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3233731 rs544258135 |
339 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359448539 rs1358508860 |
341 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233728 rs774776865 |
353 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3233727 rs768819068 |
354 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA359448337 rs371599030 |
356 | Q>L | No |
ClinGen TOPMed |
|
|
rs371599030 CA116989688 |
356 | Q>R | No |
ClinGen TOPMed |
|
|
CA3233725 rs780185586 |
357 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 358 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237480639 CA359448317 |
359 | E>D | No |
ClinGen gnomAD |
|
|
CA116989680 rs898171315 |
360 | P>S | No |
ClinGen Ensembl |
|
|
rs745924602 COSM1193338 CA3233723 |
363 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757214960 CA3233721 |
365 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233720 rs751368237 |
366 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777632901 CA3233719 |
369 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359448182 rs1253989869 |
370 | N>S | No |
ClinGen TOPMed |
|
|
rs758059399 CA3233718 |
372 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359445906 rs1448758816 |
375 | W>* | No |
ClinGen TOPMed |
|
|
rs1193970265 CA359445883 |
376 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 378 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359445822 rs770854771 |
378 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3233704 rs781235533 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3233702 rs746966584 |
379 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA359445805 rs1480068458 |
379 | C>Y | No |
ClinGen TOPMed |
|
|
rs374276325 CA3233701 |
380 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162072883 CA359445761 |
381 | L>F | No |
ClinGen gnomAD |
|
|
rs929608200 CA116985985 |
382 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3233700 rs141525662 |
382 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3233699 rs747938241 |
387 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 389 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778750472 CA3233698 |
391 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs910978101 CA359445503 |
395 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA116985941 rs910978101 |
395 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs910978101 CA359445505 |
395 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3233695 rs765926955 |
399 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs755513044 CA3233694 |
401 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233692 rs764461524 |
403 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233689 rs765500272 |
410 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1385673184 CA359445302 |
410 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 410 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759766716 CA3233688 |
412 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359445276 rs1183832330 |
415 | S>P | No |
ClinGen gnomAD |
|
|
CA3233687 rs776764769 |
416 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs527464682 CA3233686 |
418 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA359445243 rs1167884540 |
420 | F>S | No |
ClinGen gnomAD |
|
|
CA359445219 rs1460947841 |
424 | A>T | No |
ClinGen gnomAD |
|
|
rs141521969 CA3233684 |
427 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 428 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359445190 rs1232441441 |
428 | Y>H | No |
ClinGen gnomAD |
|
|
rs771874916 CA3233683 |
429 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs778842057 CA3233681 |
431 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA359445159 rs1249522774 |
432 | Y>C | No |
ClinGen gnomAD |
|
|
CA3233678 rs748952551 |
434 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1417964944 CA359445126 |
435 | I>T | No |
ClinGen Ensembl |
|
|
rs1008100873 CA116984875 |
437 | C>S | No |
ClinGen TOPMed |
|
|
CA3233662 rs759850451 |
439 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA917451437 rs1581046512 |
441 | I>N | No |
ClinGen Ensembl |
|
|
CA3233660 rs766485353 |
446 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772108450 CA3233657 |
447 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA359445039 rs1269508286 |
448 | V>A | No |
ClinGen gnomAD |
|
|
rs761859266 CA3233656 |
450 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761859266 CA359445025 |
450 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1581046467 CA359444989 |
456 | R>C | No |
ClinGen Ensembl |
|
|
CA3233653 rs143929763 |
456 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116984820 rs952706399 |
459 | N>H | No |
ClinGen Ensembl |
|
|
rs769324032 COSM3381253 CA3233651 |
461 | Y>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359444945 rs1404494184 |
462 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1404494184 CA359444946 |
462 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745439759 CA3233650 |
462 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1314454758 CA359444929 |
464 | A>V | No |
ClinGen TOPMed |
|
|
CA3233648 rs756689314 |
465 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359444915 rs1356843508 |
466 | H>Q | No |
ClinGen TOPMed |
|
|
CA116984803 rs138392797 |
467 | H>D | No |
ClinGen ESP |
|
|
rs753230290 CA3233647 |
468 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233645 rs755383035 |
471 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779339980 CA3233646 |
471 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233643 rs760799082 |
473 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249752101 CA359444777 |
474 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116983641 rs79955723 |
482 | C>F | No |
ClinGen Ensembl |
|
|
rs1227536937 CA359444507 |
484 | L>F | No |
ClinGen TOPMed |
|
|
CA359444493 rs1254837261 |
485 | T>I | No |
ClinGen TOPMed |
|
|
rs1343533608 CA359444427 |
489 | C>Y | No |
ClinGen TOPMed |
|
|
rs1357718939 CA359444412 |
490 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359444187 rs1339259657 |
502 | I>M | No |
ClinGen gnomAD |
|
|
CA3233620 rs767799620 |
502 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359444142 rs1268511517 |
506 | N>D | No |
ClinGen gnomAD |
|
|
CA359444109 rs944185624 |
508 | Q>* | No |
ClinGen Ensembl |
|
|
CA116983623 rs944185624 |
508 | Q>K | No |
ClinGen Ensembl |
|
|
rs764182777 CA3233617 |
508 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs996182183 CA116983617 |
509 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233614 rs371238277 |
514 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359443712 rs1469909733 |
518 | S>C | No |
ClinGen gnomAD |
|
|
rs1303410394 CA359443640 |
520 | K>T | No |
ClinGen Ensembl |
|
|
rs1415747349 CA359443488 |
525 | I>N | No |
ClinGen TOPMed |
|
|
CA3233599 rs777673048 |
526 | A>E | No |
ClinGen ExAC gnomAD |
|
|
COSM4155811 CA359443469 rs1277880612 |
526 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs758463269 CA3233598 |
529 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA3233597 rs752593922 |
531 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1231735639 CA359443325 |
535 | M>I | No |
ClinGen gnomAD |
|
|
rs1441660819 CA359443329 |
535 | M>T | No |
ClinGen gnomAD |
|
|
CA3233595 rs759285954 |
538 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776403705 CA3233594 |
541 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359443239 rs1262629031 |
542 | I>V | No |
ClinGen gnomAD |
|
|
rs565381564 CA3233574 |
548 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148918712 CA3233573 |
549 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3233572 rs183850401 |
551 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3233571 rs750098504 |
551 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359442468 rs750098504 |
551 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359442454 rs1362012786 |
552 | C>S | No |
ClinGen gnomAD |
|
|
CA359442451 rs1362012786 |
552 | C>Y | No |
ClinGen gnomAD |
|
|
rs1451221782 CA359442370 |
556 | L>P | No |
ClinGen gnomAD |
|
|
rs1165881783 CA359442361 |
557 | G>S | No |
ClinGen gnomAD |
|
|
CA3233568 rs773909949 |
559 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1350040953 CA359442294 |
560 | Q>K | No |
ClinGen TOPMed |
|
|
CA3233566 rs200624990 |
562 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3233565 rs777234606 |
564 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs999235967 CA116980762 |
569 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376143226 CA3233564 |
571 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747355869 CA3233563 |
572 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359442118 rs1358449572 |
573 | N>S | No |
ClinGen gnomAD |
|
|
rs1289567087 CA359442089 |
575 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359442069 rs1230484888 COSM1067593 |
577 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1344792539 CA359442065 |
577 | E>G | No |
ClinGen gnomAD |
|
|
rs1224697413 CA359441916 |
582 | E>G | No |
ClinGen gnomAD |
|
|
rs1283566804 CA359441879 |
585 | K>E | No |
ClinGen gnomAD |
|
|
CA3233548 rs763688412 |
587 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233547 rs762499138 |
588 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3233546 rs201111461 |
589 | Q>E | No |
ClinGen 1000Genomes ExAC |
|
|
CA3233545 rs150159609 |
591 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359441764 rs1227767491 |
593 | E>A | No |
ClinGen TOPMed |
|
|
rs1397915327 CA359441751 |
594 | N>D | No |
ClinGen gnomAD |
|
|
rs1298091007 CA359441739 |
595 | R>* | No |
ClinGen gnomAD |
|
|
rs185770103 CA3233542 |
595 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748409023 CA3233541 |
597 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1581040967 CA359440991 |
598 | E>Q | No |
ClinGen Ensembl |
|
|
CA3233527 rs752249915 |
602 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140838286 CA3233526 |
602 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3233525 rs761276419 |
603 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385554948 CA359440915 |
603 | Y>D | No |
ClinGen gnomAD |
|
|
CA116978941 rs761276419 |
603 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233524 rs773527332 |
604 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 606 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767957877 CA3233523 |
607 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1338157592 CA359440795 |
612 | R>K | No |
ClinGen gnomAD |
|
|
CA116978927 rs932545890 |
612 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3233521 rs146496211 |
614 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1224223089 CA359440750 |
615 | N>T | No |
ClinGen TOPMed |
|
|
rs768838596 CA3233520 |
617 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA116978918 rs866916023 |
617 | H>Y | No |
ClinGen Ensembl |
|
|
rs749440311 CA3233519 |
618 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359440685 rs1581040895 |
620 | P>S | No |
ClinGen Ensembl |
|
|
rs1182516193 CA359440672 |
621 | K>E | No |
ClinGen gnomAD |
|
|
rs1581040871 CA359440655 |
622 | E>G | No |
ClinGen Ensembl |
|
|
CA3233517 rs769809753 |
622 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA3233516 rs745846088 |
623 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285971267 CA359440610 |
625 | F>S | No |
ClinGen gnomAD |
|
|
CA359440593 rs1420079057 |
626 | S>L | No |
ClinGen TOPMed |
|
|
CA3233514 rs372668533 |
627 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780939814 CA3233515 |
627 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA359440576 rs1260528622 |
628 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1446726323 CA359440541 |
630 | T>S | No |
ClinGen TOPMed |
|
|
CA3233512 rs777635291 |
632 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233511 rs758109890 |
632 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365929861 CA359440351 |
633 | S>F | No |
ClinGen gnomAD |
|
|
CA116978865 rs992865336 |
633 | S>P | No |
ClinGen TOPMed |
|
|
rs982074745 CA116976793 |
635 | F>C | No |
ClinGen Ensembl |
|
|
rs770768970 CA3233495 |
635 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3233494 rs746878269 |
636 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1159016157 CA359440308 |
637 | Y>C | No |
ClinGen TOPMed |
|
|
rs777723014 CA3233493 |
640 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372279983 CA3233492 |
640 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3233491 rs747835801 |
643 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3233490 rs201200461 |
644 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3233489 rs754566151 |
645 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1270073663 CA359440178 |
646 | R>K | No |
ClinGen gnomAD |
|
|
rs753256134 CA359440138 |
648 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139248479 CA3233487 |
648 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3233488 rs753256134 |
648 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3233486 rs757695534 |
649 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233485 rs570391000 |
649 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866949846 CA116976678 |
653 | Q>R | No |
ClinGen Ensembl |
|
|
rs1225614690 CA359440015 |
654 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3233482 rs752962680 |
657 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359439971 rs752962680 |
657 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233481 rs765411473 |
659 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759724181 CA3233480 |
660 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1329444527 CA359439852 |
662 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 664 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393658348 CA359439802 |
665 | F>L | No |
ClinGen gnomAD |
|
|
rs1428077982 CA359439757 |
667 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3233478 rs770984273 |
667 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3233477 rs550155841 |
668 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3233476 rs550155841 |
668 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359439718 rs1274179443 |
669 | P>S | No |
ClinGen TOPMed |
|
|
rs1477236025 CA359439697 |
670 | L>P | No |
ClinGen gnomAD |
|
|
CA116976635 rs950936234 |
671 | E>D | No |
ClinGen Ensembl |
|
|
rs772016878 CA3233475 |
671 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747936310 CA3233474 |
673 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs374754867 CA3233473 |
673 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359439574 rs1315830005 |
676 | R>K | No |
ClinGen gnomAD |
|
|
CA359439577 rs1256261857 |
676 | R>W | No |
ClinGen gnomAD |
|
|
CA116976304 rs985103879 COSM1067589 |
682 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1581038144 CA359439314 |
682 | R>L | No |
ClinGen Ensembl |
|
|
rs1260270569 CA359439295 |
684 | L>F | No |
ClinGen TOPMed |
|
|
CA3233456 rs146691814 |
684 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359439278 COSM186542 rs1432499396 |
685 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199922701 CA3233455 |
688 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1032085373 CA116976300 |
688 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs143174072 CA3233454 |
689 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3233453 rs768444390 |
689 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA359439211 rs1416630209 |
691 | I>V | No |
ClinGen gnomAD |
|
|
rs181132618 CA116976299 |
692 | F>C | No |
ClinGen 1000Genomes |
|
|
CA3233452 rs748900540 |
693 | N>I | No |
ClinGen ExAC gnomAD |
No associated diseases with Q68DH5
3 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| adrenergic receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by a ligand binding to an adrenergic receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGAALGLEI | VFVFFLALFL | LHRYGDFKKQ | HRLVIIGTLL | AWYLCFLIVF | ILPLDVSTTI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YNRCKHAAAN | SSPPENSNIT | GLYATANPVP | SQHPCFKPWS | YIPDGIMPIF | WRVVYWTSQF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTWILLPFMQ | SYARSGGFSI | TGKIKTALIE | NAIYYGTYLL | IFGAFLIYVA | VNPHLHLEWN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLQTIGIAAA | NTWGLFLLVL | LLGYGLVEIP | RSYWNGAKRG | YLLMKTYFKA | AKLMTEKADA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EENLEDAMEE | VRKVNESIKY | NHPLRKCVDT | ILKKCPTEYQ | EKMGRNMDDY | EDFDEKHSIY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSEKSLVKLH | KQVIYSVQRH | RRTQVQWQIL | LEQAFYLEDV | AKNETSATHQ | FVHTFQSPEP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ENRFIQYFYN | PTFEWYWECL | LRPWFYKILA | VVLSIFSVIV | VWSECTFFST | TPVLSLFAVF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IQLAEKTYNY | IYIEIACFLS | IFFLSICVYS | TVFRIRVFNY | YYLASHHQTD | AYSLLFSGML |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FCRLTPPLCL | NFLGLTHMDS | SISHKNTQPT | AYTSIMGSMK | VLSFIADGFY | IYYPMLVVIL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CIATYFSLGT | RCLNLLGFQQ | FMGDDDMTSD | LVNEGKELIR | KEKRKRQRQE | EGENRRREWK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ERYGHNREDS | TRNRNIHTDP | KESNFSDVNT | NRSAFKYTRA | NNRTERDRIE | LLQDAEPLDF |
| 670 | 680 | 690 | |||
| NAETFTDDPL | ESESGRYQPG | GRYLSMSRSD | IFNDV |