Q9NUL7
PR
Gene name |
DDX28 (MDDX28) |
Protein name |
Probable ATP-dependent RNA helicase DDX28 |
Names |
Mitochondrial DEAD box protein 28 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55794 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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
2 structures for Q9NUL7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7OI6 | EM | 570 A | x | 1-540 | PDB |
| AF-Q9NUL7-F1 | Predicted | AlphaFoldDB |
573 variants for Q9NUL7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8123721 rs201938424 |
2 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396391668 rs1453624594 |
3 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs237831 CA8123717 VAR_052163 |
4 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA396391653 rs1409879058 |
4 | T>K | No |
ClinGen TOPMed |
|
|
rs237831 CA8123719 |
4 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs237831 CA8123718 |
4 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1319249018 CA396391645 |
5 | R>P | No |
ClinGen TOPMed |
|
|
rs562009202 CA8123716 |
5 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746436723 CA8123715 |
6 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123714 rs781521203 |
6 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396391631 rs746436723 |
6 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283196864 rs746436723 |
6 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396391597 rs1164022978 |
8 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA396391582 rs777420050 |
8 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777420050 CA8123711 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164022978 CA396391592 |
8 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs757982492 CA8123710 |
9 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757982492 CA396391574 |
9 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA8123709 rs752347194 |
9 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396391536 rs923429737 |
10 | F>C | No |
ClinGen gnomAD |
|
|
CA283196834 rs923429737 |
10 | F>S | No |
ClinGen gnomAD |
|
|
CA8123707 rs754694008 |
11 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766176001 CA8123706 |
12 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8123705 rs766176001 |
12 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751620852 CA396391421 |
15 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295685813 CA396391405 |
15 | R>L | No |
ClinGen gnomAD |
|
|
rs751620852 CA8123703 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764262500 CA396391349 |
18 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763323843 CA8123701 |
19 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396391282 rs1367409188 |
21 | R>* | No |
ClinGen gnomAD |
|
|
CA396391276 rs1303484544 |
21 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA396391262 rs1368243736 |
22 | R>Q | No |
ClinGen gnomAD |
|
|
rs775831161 CA8123700 |
22 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1428805510 CA396391238 |
23 | G>D | No |
ClinGen gnomAD |
|
|
CA396391244 rs1172079238 |
23 | G>S | No |
ClinGen gnomAD |
|
|
rs1428805510 CA396391216 |
23 | G>V | No |
ClinGen gnomAD |
|
|
rs1188990475 CA396391212 |
24 | L>F | No |
ClinGen gnomAD |
|
|
CA396391144 rs1223600260 |
27 | R>C | No |
ClinGen gnomAD |
|
|
CA8123698 rs759779862 |
27 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1223600260 CA396391139 |
27 | R>S | No |
ClinGen gnomAD |
|
|
rs1206866074 CA396391010 |
31 | E>A | No |
ClinGen gnomAD |
|
|
CA8123696 rs771286069 CA8123697 |
31 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746529299 CA8123695 |
32 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396390992 rs746529299 |
32 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs200017416 CA8123694 |
33 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200017416 CA8123693 |
33 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347263552 CA396390928 |
34 | P>A | No |
ClinGen gnomAD |
|
|
rs1409202847 CA396390911 |
35 | V>M | No |
ClinGen gnomAD |
|
|
CA8123690 rs754821676 |
36 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123689 rs748974461 |
37 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396390861 rs1462149273 |
37 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA396390869 rs1462149273 |
37 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8123688 rs780044099 |
38 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA396390840 rs1173281134 |
39 | P>T | No |
ClinGen gnomAD |
|
|
rs750372765 CA8123686 |
40 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8123687 rs756071106 |
40 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs921173279 CA283196617 |
42 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396390744 rs1200766513 |
44 | R>W | No |
ClinGen gnomAD |
|
|
rs758521504 CA396390705 |
46 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396390662 rs1255645380 |
47 | E>G | No |
ClinGen gnomAD |
|
|
rs752999743 CA8123683 |
47 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8123682 rs765330276 |
48 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123681 rs759959392 |
48 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8123680 rs776796410 |
49 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396390629 rs1263891550 |
49 | R>W | No |
ClinGen gnomAD |
|
|
CA396390615 rs1308823692 |
50 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1404820268 CA396390612 |
51 | S>C | No |
ClinGen gnomAD |
|
|
CA8123678 rs202069030 |
51 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8123676 rs771598308 |
52 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771598308 CA283196580 |
52 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs771598308 CA8123677 |
52 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1334279554 CA396390600 |
53 | R>Q | No |
ClinGen gnomAD |
|
|
COSM703798 CA396390602 rs1478760806 |
53 | R>W | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1406147955 CA396390587 |
54 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA396390562 rs1598295356 |
55 | N>T | No |
ClinGen Ensembl |
|
|
rs1157828786 CA396390570 |
55 | N>Y | No |
ClinGen gnomAD |
|
|
CA396390547 rs747604269 |
56 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123675 rs747604269 |
56 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396390522 rs1161665842 |
57 | P>L | No |
ClinGen gnomAD |
|
|
rs774064363 CA8123673 |
58 | R>K | No |
ClinGen ExAC TOPMed |
|
|
rs1352223993 CA396390488 |
59 | P>S | No |
ClinGen TOPMed |
|
|
rs928715177 CA283196545 |
61 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396390417 rs1313351163 |
63 | R>G | No |
ClinGen TOPMed |
|
|
rs1181960427 CA396390397 |
64 | P>S | No |
ClinGen gnomAD |
|
|
CA8123672 rs768123979 |
65 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs768123979 CA396390372 |
65 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768123979 CA396390374 |
65 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8123670 rs779768845 |
66 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396390358 rs779768845 |
66 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748964960 CA8123671 |
66 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396390328 rs1305789627 |
68 | L>P | No |
ClinGen TOPMed |
|
|
rs758720620 CA8123669 |
69 | V>* | No |
ClinGen ExAC |
|
|
rs1312712380 CA396390305 |
70 | S>A | No |
ClinGen gnomAD |
|
|
CA8123668 rs200300816 |
70 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200300816 CA396390302 |
70 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383115990 CA396390292 |
71 | A>T | No |
ClinGen gnomAD |
|
|
rs1319246348 CA396390277 |
71 | A>V | No |
ClinGen gnomAD |
|
|
rs971328072 CA283196497 |
72 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8123667 rs745840315 |
72 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs745840315 CA396390270 |
72 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201107769 CA8123666 |
73 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396390234 rs1242237548 |
74 | P>R | No |
ClinGen TOPMed |
|
|
rs1015693133 CA396390215 |
75 | E>A | No |
ClinGen TOPMed |
|
|
CA283196459 rs1015693133 |
75 | E>G | No |
ClinGen TOPMed |
|
|
rs752768990 CA8123664 |
75 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278255547 CA396390195 |
76 | L>V | No |
ClinGen gnomAD |
|
|
rs754080255 CA396390113 |
78 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123662 rs755226130 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1187939520 CA396390102 |
79 | P>Q | No |
ClinGen gnomAD |
|
|
CA396390071 rs1427594087 |
81 | R>C | No |
ClinGen TOPMed |
|
|
rs1264028695 CA396390059 |
82 | L>F | No |
ClinGen gnomAD |
|
|
CA283196436 rs956082572 |
83 | T>A | No |
ClinGen gnomAD |
|
|
rs1289274746 CA396390026 |
83 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773726597 CA8123658 |
85 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123656 rs535461824 |
86 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA396389976 rs1327661810 |
86 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396389962 rs1295729863 |
87 | W>R | No |
ClinGen gnomAD |
|
|
CA396389899 rs1383233871 |
89 | R>H | No |
ClinGen gnomAD |
|
|
rs1301623341 CA396389880 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8123653 rs200648087 |
93 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8123652 rs200648087 |
93 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474578027 CA396389838 |
93 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759885538 CA396389815 |
95 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs759885538 CA283196403 |
95 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs902120683 CA283196402 |
95 | Q>H | No |
ClinGen Ensembl |
|
|
CA8123650 rs745609429 |
97 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8123651 rs745609429 |
97 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA396389771 rs1329833728 |
97 | W>R | No |
ClinGen TOPMed |
|
|
CA396389732 rs781293191 |
99 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123649 rs781293191 |
99 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123648 rs770927214 |
100 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA396389692 rs1224357439 |
101 | R>P | No |
ClinGen gnomAD |
|
|
rs778920793 CA8123646 |
103 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs940845656 CA283196383 |
104 | R>P | No |
ClinGen gnomAD |
|
|
CA396389652 rs940845656 |
104 | R>Q | No |
ClinGen gnomAD |
|
|
rs112237019 CA283196384 |
104 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs754051880 CA396389630 |
105 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755067862 CA8123645 |
105 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs549305821 CA8123642 |
106 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8123643 rs780197191 |
106 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407371151 CA396389617 |
107 | F>V | No |
ClinGen gnomAD |
|
|
CA396389588 rs1328650076 |
108 | S>C | No |
ClinGen gnomAD |
|
|
CA283196349 rs1048766236 |
110 | E>D | No |
ClinGen Ensembl |
|
|
CA8123639 rs762363062 |
111 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs763551974 CA396389516 |
112 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763551974 CA8123637 |
112 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396389503 rs1427364491 |
113 | Q>E | No |
ClinGen gnomAD |
|
|
CA8123635 rs189530871 |
114 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769514331 CA8123633 |
117 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185728541 CA396389406 |
118 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1469538486 CA396389394 |
118 | A>V | No |
ClinGen Ensembl |
|
|
CA8123630 rs770839264 |
119 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8123631 rs776637544 |
119 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1225856683 CA396389360 |
120 | R>* | No |
ClinGen gnomAD |
|
|
CA396389323 rs1279286327 |
122 | L>F | No |
ClinGen gnomAD |
|
|
CA396389259 rs1403161244 |
124 | S>F | No |
ClinGen TOPMed |
|
|
CA8123627 rs768653410 |
125 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123626 rs749327385 |
126 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396389207 rs1567465263 |
127 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 128 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376508010 CA283196253 |
129 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750629296 CA8123623 |
130 | D>N | No |
ClinGen ExAC |
|
|
rs149042359 CA8123621 |
132 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123620 rs752037787 |
132 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762383979 CA8123618 |
133 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396389037 rs1355412765 |
135 | P>L | No |
ClinGen gnomAD |
|
|
rs145119741 CA8123616 |
135 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396389054 rs145119741 |
135 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1462110244 CA396389034 |
136 | R>C | No |
ClinGen gnomAD |
|
|
CA396389031 rs1462110244 |
136 | R>G | No |
ClinGen gnomAD |
|
|
rs750399420 CA283196203 |
136 | R>L | No |
ClinGen gnomAD |
|
|
CA396388995 rs1280553462 |
139 | H>D | No |
ClinGen gnomAD |
|
|
rs764836984 CA396388976 CA8123615 |
139 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8123614 rs759323396 |
140 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1344468359 CA396388902 |
142 | Q>* | No |
ClinGen gnomAD |
|
|
CA396388886 rs1402436900 |
142 | Q>H | No |
ClinGen gnomAD |
|
|
CA8123612 rs559827681 |
142 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760482645 CA8123611 |
143 | E>G | No |
ClinGen ExAC |
|
|
CA8123610 rs773032330 |
145 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747816528 CA283196166 |
147 | E>A | No |
ClinGen Ensembl |
|
|
rs1386721541 CA396388804 |
147 | E>K | No |
ClinGen gnomAD |
|
|
rs748027938 CA8123608 |
148 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123607 rs200128996 |
149 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200128996 CA396388754 |
149 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1005554272 CA396388699 |
150 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA283196136 rs1005554272 |
150 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769840428 CA396388685 |
151 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769840428 CA8123605 |
151 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357483595 CA396388661 |
152 | T>A | No |
ClinGen gnomAD |
|
|
rs1317437033 CA396388627 |
154 | V>M | No |
ClinGen gnomAD |
|
|
rs1444210588 CA396388606 |
155 | Q>H | No |
ClinGen TOPMed |
|
|
CA8123604 rs746128268 |
155 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8123603 rs372088574 |
155 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8123602 rs757584991 |
156 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs145211263 CA396388575 |
157 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345737265 CA396388565 |
158 | T>S | No |
ClinGen gnomAD |
|
|
rs1422518579 CA396388525 |
160 | P>S | No |
ClinGen gnomAD |
|
|
rs778148182 CA8123600 |
162 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396388473 rs1049259362 |
163 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA396388460 rs1476648533 |
163 | L>R | No |
ClinGen gnomAD |
|
|
rs1049259362 CA283196091 |
163 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753245067 CA8123598 |
164 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8123597 rs764891867 |
164 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs529329120 CA8123595 |
165 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1222556703 CA396388416 |
165 | G>D | No |
ClinGen gnomAD |
|
|
rs1356807601 CA396388391 |
166 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA396388373 rs1270908879 |
167 | H>R | No |
ClinGen gnomAD |
|
|
rs766011877 CA8123594 |
167 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8123593 rs760387488 |
168 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8123592 rs773122606 |
169 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773122606 CA396388348 |
169 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8123591 rs767201433 |
171 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs761857891 CA8123590 |
172 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347134125 CA396388250 |
174 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8123588 rs769891801 |
175 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1303573326 CA396388239 |
175 | G>S | No |
ClinGen gnomAD |
|
|
CA8123589 rs769891801 |
175 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171837906 CA396388154 |
178 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8123587 rs774037563 |
179 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774037563 CA283196053 |
179 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8123586 rs369913237 |
180 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA283196038 rs369913237 |
180 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201460457 CA283196036 |
181 | S>G | No |
ClinGen TOPMed |
|
|
rs201460457 CA396388079 |
181 | S>R | No |
ClinGen TOPMed |
|
|
CA396388034 rs747193788 |
183 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778260970 CA8123583 |
183 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747193788 CA8123584 |
183 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758670444 CA8123582 |
185 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs748707273 CA8123581 |
185 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA8123579 rs754561576 |
190 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8123577 rs765798140 |
191 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs755850363 CA8123576 |
192 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123575 rs561924725 |
193 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1598294947 CA396387789 |
195 | S>G | No |
ClinGen Ensembl |
|
|
rs1299524601 CA396387734 |
197 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761555010 CA8123573 |
198 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761555010 CA396387689 |
198 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8123572 rs751518799 |
199 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs759617326 CA8123570 |
200 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763961104 CA396387659 |
200 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763961104 CA8123571 |
200 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1418856473 CA396387632 |
201 | I>T | No |
ClinGen gnomAD |
|
|
rs1458413848 CA396387609 |
202 | P>R | No |
ClinGen gnomAD |
|
|
rs1179143774 CA396387617 |
202 | P>S | No |
ClinGen gnomAD |
|
|
CA396387585 rs1201872767 |
203 | A>V | No |
ClinGen gnomAD |
|
|
rs1212268869 CA396387565 |
204 | P>L | No |
ClinGen TOPMed |
|
|
CA396387562 rs1256525915 |
205 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1256525915 CA396387563 |
205 | R>G | No |
ClinGen gnomAD |
|
|
rs953871891 CA283195971 |
206 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8123566 rs773277986 |
207 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1437740167 CA396387522 |
208 | V>L | No |
ClinGen TOPMed |
|
|
rs1308943601 CA396387447 |
211 | P>L | No |
ClinGen gnomAD |
|
|
CA396387430 rs1240385226 |
212 | S>C | No |
ClinGen gnomAD |
|
|
rs772520804 CA8123565 |
213 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748478292 CA8123564 |
213 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216388585 CA396387366 |
215 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA283195957 rs765217176 |
215 | L>V | No |
ClinGen Ensembl |
|
|
rs779581091 CA8123563 |
216 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283195954 rs948794562 |
216 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs146683904 CA283195953 |
217 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8123562 rs146683904 |
217 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8123561 rs543744906 |
217 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779661709 CA8123560 |
219 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779661709 CA396387301 |
219 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8123559 rs755545838 |
220 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576275916 CA8123558 |
221 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576275916 CA283195945 |
221 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396387275 rs1257024640 |
221 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432116076 CA396387246 |
223 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1019398148 CA283195916 |
224 | Q>* | No |
ClinGen Ensembl |
|
|
CA8123553 rs762936945 |
228 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247788479 CA396385656 |
229 | S>P | No |
ClinGen gnomAD |
|
|
rs374133301 CA8123552 |
230 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294275836 CA396385601 |
231 | G>A | No |
ClinGen gnomAD |
|
|
rs772349911 CA8123547 |
236 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs11644733 CA8123548 |
236 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123549 rs11644733 |
236 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123546 rs372421887 |
237 | L>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA8123545 rs372421887 |
237 | L>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA283195830 rs983030242 |
241 | H>P | No |
ClinGen TOPMed |
|
|
rs769113942 CA283195824 |
241 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396385365 rs1448943992 |
242 | G>A | No |
ClinGen TOPMed |
|
|
CA8123543 rs368257230 |
242 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1241554332 CA396385337 |
243 | M>L | No |
ClinGen TOPMed |
|
|
rs1480816742 CA396385285 |
244 | R>C | No |
ClinGen TOPMed |
|
|
CA8123541 rs200843826 |
244 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8123542 rs200843826 |
244 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8123540 rs745309938 |
246 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426615752 CA396385212 |
247 | R>G | No |
ClinGen gnomAD |
|
|
CA396385161 rs1490121282 |
248 | L>Q | No |
ClinGen gnomAD |
|
|
rs200206521 CA283195817 |
250 | L>Q | No |
ClinGen Ensembl |
|
|
CA396385087 rs1022072445 |
251 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1022072445 CA283195815 |
251 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1386891856 CA396385084 |
252 | R>G | No |
ClinGen TOPMed |
|
|
CA396385062 rs1356648687 |
252 | R>S | No |
ClinGen gnomAD |
|
|
rs140829287 CA283195812 |
253 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396385032 rs1477733682 |
253 | Q>H | No |
ClinGen gnomAD |
|
|
rs140829287 CA8123537 |
253 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8123535 rs1555508193 |
254 | P>L | No |
ClinGen Ensembl |
|
|
rs1244979711 CA396384926 |
257 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777582783 CA8123534 |
257 | D>N | No |
ClinGen ExAC |
|
|
rs758164799 CA8123533 |
258 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8123532 rs752700321 |
260 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs753639589 CA283195787 |
261 | A>T | No |
ClinGen Ensembl |
|
|
CA396384835 rs1388704083 |
262 | T>I | No |
ClinGen gnomAD |
|
|
rs1388704083 CA396384839 |
262 | T>N | No |
ClinGen gnomAD |
|
|
rs765042087 CA8123530 |
262 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA396384813 rs1406225311 |
263 | P>L | No |
ClinGen TOPMed |
|
|
CA283195780 rs756218411 |
264 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756218411 CA8123529 |
264 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123528 rs767705361 |
265 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA396384776 rs1598294755 |
265 | A>S | No |
ClinGen Ensembl |
|
|
rs767705361 CA8123527 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1223503303 CA396384763 |
266 | L>P | No |
ClinGen TOPMed |
|
|
CA396384734 rs1598294744 |
267 | W>* | No |
ClinGen Ensembl |
|
|
CA396384678 rs1353326405 |
270 | L>M | No |
ClinGen TOPMed |
|
|
rs1203564089 CA396384658 |
271 | K>R | No |
ClinGen TOPMed |
|
|
CA8123523 rs764577341 |
272 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA396384629 rs1201342116 |
273 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA396384631 rs1201342116 |
273 | R>G | No |
ClinGen gnomAD |
|
|
rs763189612 CA8123522 |
274 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283195733 rs925831086 |
275 | I>L | No |
ClinGen Ensembl |
|
|
CA396384584 rs1249382789 |
275 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8123521 rs551189908 |
276 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396384576 rs551189908 |
276 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34526775 CA8123520 |
277 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396384538 rs1182450679 |
278 | E>G | No |
ClinGen TOPMed |
|
|
rs746373156 CA8123519 |
278 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs906469093 CA283195718 |
281 | S>F | No |
ClinGen TOPMed |
|
|
CA396384463 rs1281720769 |
282 | F>L | No |
ClinGen gnomAD |
|
|
CA8123518 rs142704515 |
282 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA396384434 rs1331830983 |
284 | V>A | No |
ClinGen gnomAD |
|
|
CA396384439 rs1319479022 |
284 | V>L | No |
ClinGen gnomAD |
|
|
CA396384417 rs1328417737 |
286 | D>H | No |
ClinGen gnomAD |
|
|
rs770396223 CA8123517 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139735910 CA8123514 |
293 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123513 rs758217815 |
295 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs754942193 CA8123510 |
297 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123509 rs147245711 |
298 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757365576 CA8123507 |
300 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396384266 rs757365576 |
300 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202509887 CA396384258 |
301 | D>E | No |
ClinGen gnomAD |
|
|
rs1261822590 CA396384254 |
302 | Y>C | No |
ClinGen gnomAD |
|
|
CA8123506 rs145327636 |
302 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1308365348 CA396384245 |
303 | I>M | No |
ClinGen TOPMed |
|
|
CA283195680 rs774483985 |
303 | I>T | No |
ClinGen Ensembl |
|
|
CA283195676 rs894533773 |
305 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8123505 rs764346193 |
305 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781160981 CA283195674 |
307 | S>R | No |
ClinGen Ensembl |
|
|
CA8123503 rs775775425 |
309 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs760000939 CA8123502 |
309 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123504 rs775775425 |
309 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs185110977 CA283195660 |
312 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs185110977 CA396384144 |
312 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs185110977 CA8123500 |
312 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1212576222 CA396384122 |
314 | A>D | No |
ClinGen Ensembl |
|
|
rs950735135 CA283195656 |
315 | D>N | No |
ClinGen gnomAD |
|
|
rs1027841217 CA283195651 |
316 | L>S | No |
ClinGen Ensembl |
|
|
rs1379418405 CA396384094 |
317 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396384092 rs1379418405 |
317 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs140020726 CA8123497 |
320 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396384033 rs1404081867 |
321 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8123495 rs772852484 |
324 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123496 rs746480043 |
324 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8123494 rs374594945 |
325 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs537364740 CA396383970 |
327 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8123493 rs537364740 |
327 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8123491 rs578218144 |
329 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs908517081 CA283195628 |
330 | G>E | No |
ClinGen TOPMed |
|
|
CA396383929 rs1182372270 |
331 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396383887 rs1238750612 |
335 | E>K | No |
ClinGen gnomAD |
|
|
CA283195609 rs757167665 |
336 | G>S | No |
ClinGen Ensembl |
|
|
CA8123489 rs780103133 |
336 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390222474 CA396383869 |
337 | V>I | No |
ClinGen TOPMed |
|
|
CA8123488 rs200912601 |
338 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200912601 CA8123487 |
338 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331027394 CA396383863 |
338 | G>S | No |
ClinGen TOPMed |
|
|
CA283195586 rs200912601 |
338 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283942012 CA396383855 |
339 | Q>L | No |
ClinGen gnomAD |
|
|
CA396383842 rs1248403549 |
341 | L>P | No |
ClinGen TOPMed |
|
|
rs1356034633 CA396383819 |
344 | V>G | No |
ClinGen gnomAD |
|
|
rs1310254904 CA396383818 |
345 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1228209847 CA396383812 |
346 | S>R | No |
ClinGen TOPMed |
|
|
rs751802444 CA283195559 |
346 | S>R | No |
ClinGen gnomAD |
|
|
CA396383803 rs1380651063 |
347 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396383787 rs1567464631 |
349 | A>G | No |
ClinGen Ensembl |
|
|
CA396383790 rs1432717278 |
349 | A>P | No |
ClinGen gnomAD |
|
|
CA8123485 rs758615165 |
351 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1325808668 CA396383767 |
353 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8123483 rs765568465 |
354 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs759893892 CA8123482 |
356 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA396383740 rs1195171999 |
357 | K>R | No |
ClinGen TOPMed |
|
|
rs1361006963 CA396383725 |
359 | H>R | No |
ClinGen gnomAD |
|
|
rs754371841 CA8123481 |
360 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396383718 rs754371841 |
360 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023126661 CA283195519 |
361 | I>V | No |
ClinGen Ensembl |
|
|
rs1013985028 CA283195512 |
362 | M>I | No |
ClinGen gnomAD |
|
|
rs1462503094 CA396383706 |
362 | M>L | No |
ClinGen TOPMed |
|
|
rs1242108591 CA396383696 |
363 | P>L | No |
ClinGen TOPMed |
|
|
rs766801673 CA8123480 |
363 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123479 rs760187645 |
364 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1473376814 CA396383690 |
364 | H>Q | No |
ClinGen gnomAD |
|
|
CA283195501 rs200156577 |
364 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771584754 CA8123477 |
368 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771584754 CA8123478 |
368 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396383641 rs1170639958 |
372 | L>Q | No |
ClinGen TOPMed |
|
|
CA396383605 rs1567464592 |
377 | K>M | No |
ClinGen Ensembl |
|
|
CA8123474 rs768369352 |
378 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs570050909 CA8123473 |
379 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA396383589 rs1338593988 |
380 | E>G | No |
ClinGen gnomAD |
|
|
rs780154620 CA8123472 |
380 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268343150 CA396383585 |
381 | L>M | No |
ClinGen gnomAD |
|
|
CA8123469 rs745797177 |
385 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA396383550 rs1297742510 |
386 | K>R | No |
ClinGen TOPMed |
|
|
rs758481566 CA8123467 |
387 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396383538 rs1408854881 |
388 | R>G | No |
ClinGen gnomAD |
|
|
CA8123466 rs561091952 |
388 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 389 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396383534 rs1263656403 |
389 | D>N | No |
ClinGen TOPMed |
|
|
CA396383517 rs1479113575 |
391 | A>T | No |
ClinGen gnomAD |
|
|
rs201683338 CA396383499 |
393 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458914966 CA396383502 |
393 | R>T | No |
ClinGen gnomAD |
|
|
CA396383498 rs1199179732 |
394 | T>P | No |
ClinGen gnomAD |
|
|
rs1248676056 CA396383485 |
396 | P>A | No |
ClinGen gnomAD |
|
|
CA396383484 rs1248676056 COSM1718583 |
396 | P>S | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8123462 rs766713563 |
397 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1306980269 CA396383472 |
398 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8123461 rs761234067 |
400 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs921080548 CA283195477 |
401 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA396383458 rs921080548 |
401 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1598294473 CA396383449 |
402 | V>G | No |
ClinGen Ensembl |
|
|
CA396383447 rs1259003723 |
403 | F>I | No |
ClinGen TOPMed |
|
|
CA396383442 rs750911225 |
403 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 403 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465266714 CA396383435 |
404 | C>F | No |
ClinGen Ensembl |
|
|
CA8123458 rs766962426 |
406 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA283195474 rs1041315096 |
406 | S>T | No |
ClinGen Ensembl |
|
|
CA396383404 rs1369541476 |
409 | T>A | No |
ClinGen gnomAD |
|
|
CA396383401 rs1293736900 |
409 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970621809 CA283195467 |
411 | N>S | No |
ClinGen TOPMed |
|
|
CA396383385 rs1598294454 |
412 | W>R | No |
ClinGen Ensembl |
|
|
CA396383368 rs1358964431 |
414 | G>E | No |
ClinGen TOPMed |
|
|
rs1467602759 CA396383360 |
415 | Y>C | No |
ClinGen gnomAD |
|
|
CA8123454 rs762682553 |
417 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA396383348 rs1598294448 |
417 | L>P | No |
ClinGen Ensembl |
|
|
CA8123453 rs775493441 |
418 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023576205 CA283195451 |
419 | D>A | No |
ClinGen TOPMed |
|
|
rs375667276 CA8123450 |
425 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396383284 rs1480446614 |
426 | R>S | No |
ClinGen gnomAD |
|
|
rs772073182 CA396383279 |
427 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA8123449 rs772073182 |
427 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1200616090 COSM1203244 CA396383274 |
428 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1262424813 CA396383255 |
430 | Q>H | No |
ClinGen gnomAD |
|
|
CA8123447 rs779014801 |
431 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA396383244 rs1313715457 |
432 | P>S | No |
ClinGen gnomAD |
|
|
CA8123446 rs201309798 |
433 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396383238 rs1347304958 COSM1203241 |
433 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8123445 rs372665459 |
435 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396383219 rs1446889494 |
436 | R>K | No |
ClinGen gnomAD |
|
|
CA8123444 rs780450174 |
436 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs756425735 CA8123443 |
437 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123441 rs768004831 |
438 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1177273832 CA396383183 |
441 | Q>H | No |
ClinGen gnomAD |
|
|
rs1361219341 CA396383185 |
441 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1037947299 CA283195342 |
448 | R>* | No |
ClinGen TOPMed |
|
|
rs1037947299 CA396383137 |
448 | R>G | No |
ClinGen TOPMed |
|
|
rs1440378492 CA396383131 |
449 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs762735516 CA8123436 |
450 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1270486356 CA396383105 |
451 | L>F | No |
ClinGen TOPMed |
|
|
rs775260162 CA8123435 |
452 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1379540413 CA396383091 |
452 | L>P | No |
ClinGen gnomAD |
|
|
CA396383043 rs759362509 |
455 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1299011263 CA396383048 |
455 | D>V | No |
ClinGen gnomAD |
|
|
rs776436698 CA8123432 |
456 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8123431 rs770840986 |
456 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs200598478 CA8123430 |
457 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA283195276 rs887210089 |
458 | S>F | No |
ClinGen TOPMed |
|
|
CA396382999 rs1161785060 |
459 | R>P | No |
ClinGen TOPMed |
|
|
rs1161785060 CA396382998 |
459 | R>Q | No |
ClinGen TOPMed |
|
|
rs768687210 COSM703799 CA8123428 |
459 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA396382967 rs1303719360 |
462 | D>G | No |
ClinGen gnomAD |
|
|
rs1453491645 CA396382956 |
463 | S>G | No |
ClinGen gnomAD |
|
|
rs1047022314 CA283195214 |
464 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1160654586 CA396382934 |
464 | T>S | No |
ClinGen gnomAD |
|
|
CA396382923 rs1420578900 |
465 | G>D | No |
ClinGen gnomAD |
|
|
CA8123427 rs749538296 |
467 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396382878 rs1303773503 |
469 | V>L | No |
ClinGen TOPMed |
|
|
CA8123424 rs746189192 |
470 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8123423 rs142020569 |
471 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123422 rs142020569 |
471 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123421 rs138454972 |
472 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396382827 rs1265126235 |
473 | D>Y | No |
ClinGen gnomAD |
|
|
CA283195179 rs145256308 |
474 | F>I | No |
ClinGen ESP |
|
|
rs763744932 CA8123420 |
474 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1274202628 CA396382784 |
475 | P>L | No |
ClinGen TOPMed |
|
|
rs1374036833 CA396382781 |
476 | P>A | No |
ClinGen TOPMed |
|
|
COSM319842 CA283195178 rs1039993207 |
476 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs139606094 CA8123418 |
477 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8123417 rs373547062 |
477 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373547062 CA396382759 |
477 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1014805766 CA283195164 |
479 | Q>* | No |
ClinGen Ensembl |
|
|
rs1352514116 CA396382713 |
480 | D>G | No |
ClinGen TOPMed |
|
|
rs1246277727 CA396382653 |
482 | I>S | No |
ClinGen TOPMed |
|
|
rs1598294303 CA396382591 |
485 | A>S | No |
ClinGen Ensembl |
|
|
CA396382528 rs1338855614 |
488 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8123414 rs550065141 |
488 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8123413 rs766079779 |
490 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396382494 rs1400788173 |
490 | R>H | No |
ClinGen gnomAD |
|
|
rs201517272 CA283195130 |
493 | S>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA283195132 rs201517272 |
493 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8123412 rs760703710 |
493 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs369666846 CA283195126 |
494 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs369666846 CA396382439 |
494 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1476824257 CA396382379 |
497 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs749301896 CA8123409 |
499 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775706536 CA8123408 |
500 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490064881 CA396382314 |
502 | F>S | No |
ClinGen gnomAD |
|
|
CA396382303 rs1264819797 |
503 | V>L | No |
ClinGen gnomAD |
|
|
rs1211326743 CA396382293 |
504 | T>A | No |
ClinGen gnomAD |
|
|
CA283195114 rs998618601 |
504 | T>S | No |
ClinGen Ensembl |
|
|
rs1211326743 CA396382292 |
504 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180942140 CA396382256 |
507 | W>* | No |
ClinGen gnomAD |
|
|
CA396382245 rs1250305117 |
507 | W>C | No |
ClinGen gnomAD |
|
|
CA396382262 rs1422793880 |
507 | W>R | No |
ClinGen TOPMed |
|
|
CA283195104 rs904177020 |
508 | D>Y | No |
ClinGen Ensembl |
|
|
rs1355035842 CA396382189 |
510 | S>N | No |
ClinGen TOPMed |
|
|
CA283195092 rs545676093 |
510 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396382161 rs1444367381 |
512 | V>I | No |
ClinGen TOPMed |
|
|
rs1296182652 CA396382143 |
513 | Q>* | No |
ClinGen TOPMed |
|
|
rs1375885894 CA396382132 |
513 | Q>R | No |
ClinGen TOPMed |
|
|
rs1567464160 CA8123379 |
514 | K>I | No |
ClinGen Ensembl |
|
|
CA8123404 rs771179566 |
514 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123402 rs765707529 |
515 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747573008 CA8123403 |
515 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs757985082 CA8123401 |
516 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8123400 rs752194778 |
517 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396382005 rs1330804119 COSM23521 |
520 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8123398 rs754723789 |
520 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201979851 CA8123397 |
521 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8123396 rs559949943 |
521 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 522 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376623624 CA8123394 |
522 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 524 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs989668265 CA283195080 |
526 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs35527032 CA283195075 |
527 | G>R | No |
ClinGen Ensembl |
|
|
CA8123391 rs140231311 |
528 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1196226522 CA396381855 |
528 | L>V | No |
ClinGen gnomAD |
|
|
CA396381826 rs1598294206 |
529 | A>V | No |
ClinGen Ensembl |
|
|
rs1471973281 CA396381820 |
530 | S>P | No |
ClinGen TOPMed |
|
|
rs1344731728 CA396381746 |
532 | V>L | No |
ClinGen gnomAD |
|
|
rs368049595 CA283195039 |
534 | E>G | No |
ClinGen ESP |
|
|
rs1221844162 CA396381671 |
534 | E>Q | No |
ClinGen Ensembl |
|
|
rs368049595 CA283195032 |
534 | E>V | No |
ClinGen ESP |
|
|
CA396381619 rs1235646448 |
535 | P>L | No |
ClinGen gnomAD |
|
|
CA8123387 rs776669424 |
536 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA919731504 rs1555508107 |
537 | P>C | No |
ClinGen Ensembl |
|
|
rs372701071 CA283195026 |
537 | P>L | No |
ClinGen Ensembl |
|
|
CA8123386 rs75846927 |
537 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8123383 rs772761157 |
538 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413878264 CA396381490 |
539 | A>T | No |
ClinGen gnomAD |
|
|
CA8123381 rs778602882 |
540 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1399742399 CA396381467 |
540 | T>S | No |
ClinGen gnomAD |
|
|
rs1466178030 CA396381418 |
541 | T>G | No |
ClinGen gnomAD |
|
|
rs1380106019 CA396381408 |
541 | T>L | No |
ClinGen TOPMed |
No associated diseases with Q9NUL7
5 regional properties for Q9NUL7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 236 - 433 | IPR000219 |
| domain | Pleckstrin homology domain | 473 - 574 | IPR001849 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 39 - 86 | IPR002219 |
| domain | ARHGEF2, PH domain | 471 - 586 | IPR037806 |
| domain | ARHGEF1-like, PH domain | 464 - 571 | IPR041020 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| ribonucleoprotein granule | A non-membranous macromolecular complex containing proteins and translationally silenced mRNAs. RNA granules contain proteins that control the localization, stability, and translation of their RNA cargo. Different types of RNA granules (RGs) exist, depending on the cell type and cellular conditions. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
| rRNA binding | Binding to a ribosomal RNA. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial large ribosomal subunit assembly | The aggregation, arrangement and bonding together of a set of components to form a mitochondrial large ribosomal subunit. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q29S22 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Bos taurus (Bovine) | PR |
| Q7L014 | DDX46 | Probable ATP-dependent RNA helicase DDX46 | Homo sapiens (Human) | PR |
| Q8NHQ9 | DDX55 | ATP-dependent RNA helicase DDX55 | Homo sapiens (Human) | PR |
| P60842 | EIF4A1 | Eukaryotic initiation factor 4A-I | Homo sapiens (Human) | PR |
| Q14240 | EIF4A2 | Eukaryotic initiation factor 4A-II | Homo sapiens (Human) | PR |
| Q9Y6V7 | DDX49 | Probable ATP-dependent RNA helicase DDX49 | Homo sapiens (Human) | PR |
| Q9H0S4 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Homo sapiens (Human) | PR |
| Q8TDD1 | DDX54 | ATP-dependent RNA helicase DDX54 | Homo sapiens (Human) | PR |
| Q9GZR7 | DDX24 | ATP-dependent RNA helicase DDX24 | Homo sapiens (Human) | PR |
| Q92499 | DDX1 | ATP-dependent RNA helicase DDX1 | Homo sapiens (Human) | PR |
| Q9NY93 | DDX56 | Probable ATP-dependent RNA helicase DDX56 | Homo sapiens (Human) | PR |
| Q9CWX9 | Ddx47 | Probable ATP-dependent RNA helicase DDX47 | Mus musculus (Mouse) | PR |
| Q9CWT6 | Ddx28 | Probable ATP-dependent RNA helicase DDX28 | Mus musculus (Mouse) | PR |
| Q7Y183 | RH10 | DEAD-box ATP-dependent RNA helicase 10 | Oryza sativa subsp japonica (Rice) | PR |
| P34580 | T26G10.1 | Putative ATP-dependent RNA helicase T26G10.1 | Caenorhabditis elegans | PR |
| Q8GY84 | RH10 | DEAD-box ATP-dependent RNA helicase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56X76 | RH39 | DEAD-box ATP-dependent RNA helicase 39 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALTRPVRLF | SLVTRLLLAP | RRGLTVRSPD | EPLPVVRIPV | ALQRQLEQRQ | SRRRNLPRPV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LVRPGPLLVS | ARRPELNQPA | RLTLGRWERA | PLASQGWKSR | RARRDHFSIE | RAQQEAPAVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLSSKGSFAD | LGLEPRVLHA | LQEAAPEVVQ | PTTVQSSTIP | SLLRGRHVVC | AAETGSGKTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SYLLPLLQRL | LGQPSLDSLP | IPAPRGLVLV | PSRELAQQVR | AVAQPLGRSL | GLLVRDLEGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HGMRRIRLQL | SRQPSADVLV | ATPGALWKAL | KSRLISLEQL | SFLVLDEADT | LLDESFLELV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DYILEKSHIA | EGPADLEDPF | NPKAQLVLVG | ATFPEGVGQL | LNKVASPDAV | TTITSSKLHC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IMPHVKQTFL | RLKGADKVAE | LVHILKHRDR | AERTGPSGTV | LVFCNSSSTV | NWLGYILDDH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KIQHLRLQGQ | MPALMRVGIF | QSFQKSSRDI | LLCTDIASRG | LDSTGVELVV | NYDFPPTLQD |
| 490 | 500 | 510 | 520 | 530 | |
| YIHRAGRVGR | VGSEVPGTVI | SFVTHPWDVS | LVQKIELAAR | RRRSLPGLAS | SVKEPLPQAT |