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 A6NJ64
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NJ64-F1 | Predicted | AlphaFoldDB |
498 variants for A6NJ64
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1270042082 CA394792093 |
3 | C>S | No |
ClinGen gnomAD |
|
|
rs1270042082 CA394792094 |
3 | C>Y | No |
ClinGen gnomAD |
|
|
CA394792063 rs1318574183 |
7 | Y>N | No |
ClinGen gnomAD |
|
|
CA394792048 rs1291472645 |
8 | E>K | No |
ClinGen TOPMed |
|
|
rs1365898736 CA394792025 |
9 | W>* | No |
ClinGen TOPMed |
|
|
rs570197929 CA7907817 |
12 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278354577 rs932174490 |
13 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 13 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555508660 CA394791964 |
14 | C>Y | No |
ClinGen Ensembl |
|
|
CA394791955 rs1175340595 |
15 | K>E | No |
ClinGen gnomAD |
|
|
CA7907816 rs751427535 |
15 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1394477089 CA394791935 |
16 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394791933 rs1394477089 |
16 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs549949940 CA278354567 |
17 | W>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1322471598 CA394791910 |
18 | H>D | No |
ClinGen TOPMed |
|
|
CA394791905 rs1224006599 |
18 | H>P | No |
ClinGen TOPMed |
|
|
rs1228664357 CA394791884 |
19 | S>C | No |
ClinGen gnomAD |
|
|
CA394791892 rs1243850081 |
19 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs368653122 CA278354562 |
21 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs766377280 CA7907815 |
21 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774691218 CA7907804 |
22 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7907802 rs749555769 |
23 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771525542 CA7907803 |
23 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315518612 CA394791189 |
24 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1414944361 CA394791173 |
27 | A>S | No |
ClinGen gnomAD |
|
|
CA394791170 rs1463337087 |
27 | A>V | No |
ClinGen TOPMed |
|
|
CA7907800 rs769396235 |
28 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378210313 CA394791169 |
28 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7907799 rs747816601 |
29 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA394791157 rs780867493 |
29 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746593962 CA7907797 |
30 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7907796 rs746593962 |
30 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA394791145 rs1189417911 |
31 | H>L | No |
ClinGen TOPMed |
|
|
CA7907795 rs779846220 |
31 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907793 rs750180686 |
32 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7907792 rs778887001 |
32 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs559878844 CA7907791 |
33 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160782411 CA394791108 |
37 | G>D | No |
ClinGen TOPMed |
|
|
CA7907788 rs759531268 |
38 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1456074397 CA394791084 |
41 | W>* | No |
ClinGen gnomAD |
|
|
rs540951733 CA7907786 |
41 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540951733 CA7907785 |
41 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751672689 CA7907787 |
41 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539519597 CA7907784 |
43 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907783 rs770118493 |
43 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770118493 CA394791070 |
43 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907782 rs762203374 |
44 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746448101 CA7907779 |
45 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907780 rs768415791 |
45 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394791062 rs1596492434 |
45 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 47 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7907778 rs779624624 |
47 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188919172 CA7907776 |
49 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278352251 rs779042642 |
50 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907775 rs779042642 |
50 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219237013 CA394791012 |
53 | K>E | No |
ClinGen TOPMed |
|
|
CA394790994 rs1368181573 |
55 | V>A | No |
ClinGen gnomAD |
|
|
rs753754606 CA7907773 |
56 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753754606 CA394790992 |
56 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA394790985 rs1178599432 |
57 | T>N | No |
ClinGen gnomAD |
|
|
CA7907771 rs755231499 |
57 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1209952249 CA394790978 |
58 | L>P | No |
ClinGen gnomAD |
|
|
CA7907769 rs575876572 |
58 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1263369826 CA394790975 |
59 | W>R | No |
ClinGen gnomAD |
|
|
CA394790966 rs1217420127 |
60 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394790962 rs1317298115 |
60 | T>I | No |
ClinGen gnomAD |
|
|
CA394790954 rs1237662626 |
62 | Y>H | No |
ClinGen gnomAD |
|
|
CA7907767 rs750894740 |
64 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790918 rs1418940461 |
64 | W>L | No |
ClinGen TOPMed |
|
|
CA394790928 rs1165209980 |
64 | W>R | No |
ClinGen TOPMed |
|
|
rs71385125 CA7907736 |
65 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758630158 CA7907734 |
66 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758630158 CA7907735 |
66 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907733 rs191739467 |
67 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1372548702 CA394790708 |
68 | L>P | No |
ClinGen TOPMed |
|
|
CA7907731 rs757716732 |
68 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767223113 CA7907726 |
71 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756498060 CA7907728 |
71 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7907729 rs764549437 |
71 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907724 CA7907725 rs773948020 |
72 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790684 rs1395675767 |
72 | F>S | No |
ClinGen TOPMed |
|
|
CA7907723 rs765964203 |
73 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7907722 rs762410418 |
73 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796258955 CA278350305 |
74 | S>C | No |
ClinGen gnomAD |
|
|
rs796258955 CA394790672 |
74 | S>F | No |
ClinGen gnomAD |
|
|
rs769673946 CA7907720 |
75 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790653 rs1440474534 |
77 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7907719 rs761608606 |
79 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1253741116 CA394790638 |
79 | D>V | No |
ClinGen TOPMed |
|
|
rs559616310 CA7907718 |
80 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394790624 rs1199129113 |
82 | T>A | No |
ClinGen gnomAD |
|
|
rs746114385 CA7907714 |
82 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790613 rs1288234427 |
83 | D>E | No |
ClinGen gnomAD |
|
|
rs1315709593 CA394790618 |
83 | D>H | No |
ClinGen gnomAD |
|
|
CA394790611 rs1217056124 |
84 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1358791034 CA394790594 |
86 | Q>P | No |
ClinGen gnomAD |
|
|
rs1285000894 CA394790589 |
87 | R>G | No |
ClinGen gnomAD |
|
|
rs771012614 CA7907712 |
88 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907710 rs778330949 |
89 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753064110 CA7907708 |
90 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1328750298 CA394790565 |
91 | S>P | No |
ClinGen gnomAD |
|
|
rs781705578 CA7907707 |
92 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790555 rs751225677 CA7907705 |
92 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755441606 CA394790557 |
92 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755441606 CA7907706 |
92 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs766197037 CA7907704 |
93 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762507683 CA7907703 |
93 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762507683 CA394790551 |
93 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790553 rs766197037 |
93 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749912298 CA7907702 |
94 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790549 rs749912298 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529129562 CA7907701 |
94 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1388475625 CA394790544 |
95 | R>K | No |
ClinGen TOPMed |
|
|
CA7907700 rs761690840 |
96 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs776364475 CA7907699 |
97 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA394790512 rs780312280 |
98 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907668 rs780312280 |
98 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178178970 CA394790502 |
100 | R>T | No |
ClinGen gnomAD |
|
|
rs1424352771 CA394790494 |
101 | S>C | No |
ClinGen gnomAD |
|
|
rs563976911 CA394790492 |
102 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907665 rs199896549 |
102 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907666 rs563976911 |
102 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194581684 CA394790483 |
103 | C>S | No |
ClinGen gnomAD |
|
|
CA278350035 rs1014478694 |
104 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394790476 rs1014478694 |
104 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1488168644 CA394790477 |
104 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7907664 rs756756162 |
105 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468438806 CA394790457 |
107 | K>E | No |
ClinGen TOPMed |
|
|
CA7907662 rs763965092 |
108 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790433 rs1319317917 |
110 | V>D | No |
ClinGen gnomAD |
|
|
rs1244503867 CA394790427 |
111 | S>Y | No |
ClinGen gnomAD |
|
|
rs1567465163 CA394790422 |
112 | S>A | No |
ClinGen Ensembl |
|
|
CA394790412 rs1278445598 |
113 | F>L | No |
ClinGen gnomAD |
|
|
CA7907659 rs756053503 |
114 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7907657 rs571909642 |
116 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1448444782 CA394790392 |
116 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394790390 rs1358574827 CA394790391 |
116 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs759412084 CA7907656 |
118 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1332095745 CA394790376 |
118 | I>S | No |
ClinGen gnomAD |
|
|
rs1596489506 CA394790365 |
120 | L>R | No |
ClinGen Ensembl |
|
|
CA7907654 rs556044061 |
122 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1417610546 CA394790356 |
122 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394790348 rs535735201 |
123 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907652 rs535735201 |
123 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1332745243 CA394790336 |
125 | T>A | No |
ClinGen TOPMed |
|
|
rs769244587 CA7907651 |
126 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7907648 rs772293949 |
127 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907649 rs776115985 |
127 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA394790314 rs146150682 |
129 | H>L | No |
ClinGen Ensembl |
|
|
rs869191708 CA919658763 |
129 | H>QL | No |
ClinGen Ensembl |
|
|
CA278349929 rs146150682 |
129 | H>R | No |
ClinGen Ensembl |
|
|
CA394790299 rs1334719940 |
131 | E>V | No |
ClinGen TOPMed |
|
|
CA7907644 rs746311800 |
132 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1378097262 CA394790293 |
132 | T>K | No |
ClinGen gnomAD |
|
|
CA7907643 rs778421961 |
133 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs756919965 CA7907642 |
133 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA394790288 rs1448847412 |
133 | K>R | No |
ClinGen gnomAD |
|
|
CA394790282 rs1332185105 |
134 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1332185105 CA394790280 |
134 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7907640 rs777298979 |
136 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394790252 rs1424765023 |
139 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs138738885 CA7907639 |
139 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907638 rs752542709 |
140 | K>R | No |
ClinGen ExAC |
|
|
rs781253769 CA7907637 |
141 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394790230 rs1179835372 |
142 | K>* | No |
ClinGen TOPMed |
|
|
CA394790213 rs1456062228 |
144 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1456062228 CA394790215 |
144 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs556338238 CA7907635 |
145 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556338238 CA394790209 |
145 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762157330 CA7907633 |
146 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753918714 CA7907632 |
146 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242021505 CA394790171 |
147 | I>M | No |
ClinGen gnomAD |
|
|
rs1334260131 CA394790182 |
147 | I>V | No |
ClinGen TOPMed |
|
|
rs550836156 CA278349881 |
148 | N>K | No |
ClinGen gnomAD |
|
|
rs1360464431 CA394790153 |
149 | H>N | No |
ClinGen TOPMed |
|
|
rs539599080 CA394790147 |
149 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907630 rs539599080 |
149 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907629 rs760879539 |
150 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA394790133 rs1295537247 |
150 | H>P | No |
ClinGen gnomAD |
|
|
CA278349855 rs772694192 |
154 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907627 rs772694192 |
154 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278349850 rs754067416 |
155 | G>A | No |
ClinGen Ensembl |
|
|
CA394790067 rs1421903402 |
155 | G>R | No |
ClinGen gnomAD |
|
|
rs930530877 CA278349843 |
157 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759765587 CA7907626 |
157 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372839196 CA7907623 |
160 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394789979 rs1487980213 |
161 | K>E | No |
ClinGen gnomAD |
|
|
rs1289098654 CA394789972 |
161 | K>R | No |
ClinGen gnomAD |
|
|
CA7907622 rs769286185 |
162 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907621 rs769286185 |
162 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907620 rs747748373 |
163 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394789488 rs1426541005 |
167 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1426541005 CA394789484 |
167 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201929589 CA7907602 |
167 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394789467 rs1341779405 |
169 | E>K | No |
ClinGen gnomAD |
|
|
CA278348376 rs575740545 |
170 | C>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1230831536 CA394789439 |
170 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394789443 rs1358384546 |
170 | C>Y | No |
ClinGen TOPMed |
|
|
rs1477972670 CA394789429 |
171 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7907601 rs768426764 |
172 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA394789413 rs1190845702 |
172 | H>R | No |
ClinGen gnomAD |
|
|
CA394789398 rs1199743449 |
173 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394789396 rs1199743449 |
173 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1256800320 CA394789402 |
173 | A>P | No |
ClinGen gnomAD |
|
|
CA394789394 rs1199743449 |
173 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394789361 rs1256126437 |
176 | E>Q | No |
ClinGen TOPMed |
|
|
CA394789355 rs1596487285 |
177 | R>G | No |
ClinGen Ensembl |
|
|
rs1200578800 CA394789353 |
177 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394789335 rs746941404 |
178 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394789327 rs1242149443 |
178 | Q>H | No |
ClinGen TOPMed |
|
|
CA7907600 rs746941404 |
178 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394789331 rs1269822566 |
178 | Q>R | No |
ClinGen gnomAD |
|
|
CA278348304 rs758265173 |
179 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907598 rs758265173 |
179 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780183005 CA7907599 |
179 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907597 rs745715814 |
180 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394789266 rs1332842347 |
183 | E>* | No |
ClinGen gnomAD |
|
|
CA394789258 rs1169812704 |
183 | E>D | No |
ClinGen TOPMed |
|
|
CA394789268 rs1332842347 |
183 | E>K | No |
ClinGen gnomAD |
|
|
rs199906866 CA7907596 |
184 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596487245 CA394789243 |
184 | E>G | No |
ClinGen Ensembl |
|
|
CA394789217 rs1431204077 |
186 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs752683549 CA7907594 |
188 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394789187 rs1165737495 |
188 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1368792301 CA394789162 |
189 | D>E | No |
ClinGen gnomAD |
|
|
rs1359757139 CA394789151 |
190 | M>I | No |
ClinGen TOPMed |
|
|
CA394789154 rs767661074 |
190 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907593 rs767661074 |
190 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301354352 CA394789117 |
192 | E>D | No |
ClinGen TOPMed |
|
|
rs1596487217 CA394789089 |
194 | H>Q | No |
ClinGen Ensembl |
|
|
rs755064814 CA7907592 |
197 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs755064814 CA394789048 |
197 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs866639926 CA278348120 |
198 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1390970946 CA394788925 |
202 | R>C | No |
ClinGen gnomAD |
|
|
rs1162471275 CA394788922 |
202 | R>H | No |
ClinGen gnomAD |
|
|
CA394788911 rs1422508329 |
203 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394788907 rs1422508329 |
203 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1159117363 CA394788894 |
204 | Q>P | No |
ClinGen gnomAD |
|
|
CA394788881 rs1440401627 |
205 | E>A | No |
ClinGen gnomAD |
|
|
rs256385 CA7907590 |
207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394788842 rs1453581023 |
208 | R>Q | No |
ClinGen gnomAD |
|
|
CA394788832 rs1222290095 |
209 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394788835 rs1268314279 |
209 | R>W | No |
ClinGen gnomAD |
|
|
CA394788827 rs1288792144 |
210 | A>T | No |
ClinGen gnomAD |
|
|
rs1241461441 CA394788791 |
212 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394788769 rs1349364474 |
214 | H>Y | No |
ClinGen gnomAD |
|
|
rs1277309862 CA394788742 |
215 | K>I | No |
ClinGen gnomAD |
|
|
rs1277309862 CA394788744 |
215 | K>R | No |
ClinGen gnomAD |
|
|
CA394788734 rs1555507556 COSM3765846 |
216 | C>R | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1446969390 CA394788663 |
219 | P>T | No |
ClinGen gnomAD |
|
|
rs1220508684 CA394788654 |
220 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1345034945 CA394788647 |
220 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1345034945 CA394788645 |
220 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1345034945 CA394788648 |
220 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1221263256 CA394788598 |
225 | A>P | No |
ClinGen gnomAD |
|
|
CA394788569 rs1298624210 |
229 | W>R | No |
ClinGen gnomAD |
|
|
CA394788070 rs1240878722 |
231 | R>K | No |
ClinGen gnomAD |
|
|
rs532091746 CA394788054 |
233 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278348000 rs532091746 |
233 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532091746 CA7907584 |
233 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768180484 CA7907583 |
235 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596486112 CA394788038 |
236 | E>G | No |
ClinGen Ensembl |
|
|
rs775556987 CA7907581 |
238 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772149804 CA7907580 |
238 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285918927 CA394788019 |
239 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1285918927 CA394788018 |
239 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394787999 rs1413162306 |
242 | G>V | No |
ClinGen gnomAD |
|
|
CA7907577 rs756245106 |
244 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756245106 CA394787987 |
244 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778887215 CA7907578 |
244 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7907576 rs748382756 |
245 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787972 rs781333330 |
246 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781333330 CA7907575 |
246 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596486056 CA394787967 |
247 | P>L | No |
ClinGen Ensembl |
|
|
CA394787968 rs1171323571 |
247 | P>S | No |
ClinGen gnomAD |
|
|
rs1171323571 CA394787970 |
247 | P>T | No |
ClinGen gnomAD |
|
|
rs1210965932 CA394787952 |
249 | L>R | No |
ClinGen gnomAD |
|
|
CA394787945 rs1409752358 |
250 | T>I | No |
ClinGen gnomAD |
|
|
rs1444232454 CA394787936 |
251 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394787905 rs1417761098 |
254 | L>I | No |
ClinGen gnomAD |
|
|
CA394787903 rs1417761098 |
254 | L>V | No |
ClinGen gnomAD |
|
|
CA7907574 rs755070026 |
257 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278344030 rs936797712 |
259 | G>D | No |
ClinGen TOPMed |
|
|
CA394787753 rs1243067868 |
260 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394787747 rs1181281195 |
261 | Q>* | No |
ClinGen gnomAD |
|
|
rs766801604 CA394787725 |
264 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766801604 CA7907572 |
264 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787724 rs1305576234 |
265 | P>S | No |
ClinGen gnomAD |
|
|
rs1321089324 CA394787705 |
267 | Q>H | No |
ClinGen TOPMed |
|
|
CA7907571 rs758934643 |
268 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs750737234 CA7907570 |
268 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA278344019 rs978693516 |
269 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765611329 CA7907569 |
269 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1450556377 CA394787688 COSM1478511 |
270 | S>C | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs762124145 CA7907568 |
271 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7907567 rs776344247 |
272 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7907566 rs560635478 |
272 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907563 rs772098583 |
273 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760205185 CA7907565 |
273 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772098583 CA7907564 |
273 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745826221 CA394787665 |
274 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787653 rs1162150932 |
276 | L>P | No |
ClinGen gnomAD |
|
|
rs774206157 CA7907560 |
277 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA394787649 rs770730863 |
277 | S>I | No |
ClinGen ExAC TOPMed |
|
|
rs770730863 CA7907559 |
277 | S>N | No |
ClinGen ExAC TOPMed |
|
|
rs749091854 CA394787648 |
277 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7907557 rs770596502 |
278 | L>G | No |
ClinGen ExAC gnomAD |
|
|
CA7907554 rs530343762 |
280 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7907555 rs544179686 |
280 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907553 rs780128640 |
282 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787619 rs1222109967 |
282 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7907552 rs780128640 |
282 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907548 rs757628821 |
283 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA394787610 rs1339862333 |
284 | C>R | No |
ClinGen TOPMed |
|
|
rs763735664 CA7907545 |
285 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs201932636 CA7907544 |
286 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774329520 CA7907540 |
287 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561449324 CA7907541 |
287 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774329520 CA394787592 |
287 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907542 rs561449324 |
287 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1307858981 CA394787586 |
288 | P>L | No |
ClinGen gnomAD |
|
|
rs762738582 CA7907538 |
289 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7907536 rs772908192 |
290 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768816113 CA7907535 |
291 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1567462054 CA394787575 |
291 | P>T | No |
ClinGen Ensembl |
|
|
rs747209445 CA7907534 |
292 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7907532 COSM2142602 rs780293021 |
293 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1567462000 CA394787540 |
296 | N>S | No |
ClinGen Ensembl |
|
|
rs779420190 CA7907528 |
298 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787519 rs1218491938 |
299 | T>R | No |
ClinGen gnomAD |
|
|
CA7907527 rs757709837 |
301 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787510 rs757709837 |
301 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907523 rs752370165 |
302 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7907524 rs544766302 |
302 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA394787499 rs1238437168 |
303 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1315135145 CA394787497 |
303 | C>Y | No |
ClinGen gnomAD |
|
|
rs759056666 CA7907520 |
304 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907521 rs767349587 |
304 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208183696 CA394787487 |
305 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7907519 rs766295778 |
306 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773249518 CA7907516 |
306 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766295778 CA7907518 |
306 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773249518 CA7907517 |
306 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907515 rs575813864 |
308 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1451004918 CA394787466 |
309 | P>L | No |
ClinGen gnomAD |
|
|
rs1451004918 CA394787468 |
309 | P>Q | No |
ClinGen gnomAD |
|
|
rs577661186 CA278343896 |
309 | P>T | No |
ClinGen Ensembl |
|
|
rs1479935237 CA394787449 |
312 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1479935237 CA394787448 |
312 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1596485751 CA394787446 |
313 | P>A | No |
ClinGen Ensembl |
|
|
rs145980981 CA7907511 |
313 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394787427 rs370684740 |
316 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370684740 COSM1478509 CA7907509 |
316 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs745896809 CA7907505 |
317 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745896809 CA394787421 |
317 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348135879 CA394787414 |
318 | D>G | No |
ClinGen TOPMed |
|
|
rs1484945520 CA394787404 |
319 | N>K | No |
ClinGen gnomAD |
|
|
rs553810246 CA7907502 |
320 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774326444 CA7907503 |
320 | L>I | No |
ClinGen ExAC TOPMed |
|
|
rs553810246 CA394787399 |
320 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs964687186 CA278343872 |
321 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200146217 CA7907500 |
323 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200146217 CA394787385 |
323 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200146217 CA7907499 |
323 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787364 rs1220868164 |
326 | A>V | No |
ClinGen gnomAD |
|
|
rs1327327909 CA394787357 |
327 | T>I | No |
ClinGen gnomAD |
|
|
rs748533387 CA7907497 |
328 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748533387 CA394787355 |
328 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787322 rs1380978864 |
330 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336866173 CA394787298 |
332 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1403521022 CA394787293 |
333 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1172288342 CA394787278 |
334 | K>* | No |
ClinGen gnomAD |
|
|
CA394787277 rs1462333778 |
334 | K>T | No |
ClinGen gnomAD |
|
|
rs1227560567 CA394787263 |
335 | P>T | No |
ClinGen TOPMed |
|
|
rs1372238661 CA394787246 |
336 | P>R | No |
ClinGen gnomAD |
|
|
rs1425526035 CA394787240 |
337 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1025415288 CA278343835 |
338 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1479483441 CA394787218 |
338 | P>S | No |
ClinGen TOPMed |
|
|
CA394787193 rs780922967 |
340 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907495 rs574332477 |
340 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780922967 CA7907496 |
340 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907492 rs757965858 |
341 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7907493 rs757965858 |
341 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751028344 CA7907494 |
341 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567461715 CA394787165 |
342 | R>K | No |
ClinGen Ensembl |
|
|
rs1567461711 CA394787154 |
343 | A>P | No |
ClinGen Ensembl |
|
|
CA7907490 rs765215480 |
343 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761540584 CA7907489 |
344 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278343796 rs568619596 |
344 | A>V | No |
ClinGen 1000Genomes |
|
|
CA394787133 rs1362302575 |
345 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs776417843 CA7907488 |
345 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774686849 CA7907485 |
346 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767686667 CA394787113 |
346 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907486 rs759700600 |
346 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7907487 rs767686667 |
346 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787093 rs1391662045 |
347 | E>V | No |
ClinGen gnomAD |
|
|
rs1166005344 CA394787085 |
348 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1166005344 CA394787087 |
348 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749453341 CA7907483 |
349 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773845666 CA7907482 |
349 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1184055991 CA394787040 |
351 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7907479 rs781703959 |
351 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907478 rs755415653 |
352 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787030 rs755415653 |
352 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787021 rs746609602 |
353 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394787018 rs1596485526 |
354 | R>K | No |
ClinGen Ensembl |
|
|
rs1361966986 CA394787012 |
355 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs868332801 COSM1588230 CA7907474 |
355 | R>W | lung endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs757832267 CA7907473 |
356 | R>M | No |
ClinGen ExAC |
|
|
rs1170166523 CA394787003 |
357 | A>T | No |
ClinGen TOPMed |
|
|
CA394787000 rs1293179890 |
357 | A>V | No |
ClinGen gnomAD |
|
|
CA7907469 rs112574008 |
358 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA7907468 rs757220118 |
358 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1280822466 CA394786987 CA394786986 |
359 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7907465 rs116375279 |
360 | V>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA7907464 rs753581136 |
361 | E>* | No |
ClinGen ExAC TOPMed |
|
|
CA7907462 rs763856408 |
361 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA394786957 rs1272008396 |
362 | S>* | No |
ClinGen gnomAD |
|
|
CA278343680 rs868365018 |
362 | S>P | No |
ClinGen TOPMed |
|
|
CA278343676 rs565838037 |
363 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7907451 rs113445369 |
365 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs762870609 CA7907449 |
366 | P>H | No |
ClinGen ExAC |
|
|
rs766685928 CA278343634 |
366 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907450 rs766685928 |
366 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773453184 CA7907446 |
367 | K>E | No |
ClinGen ExAC |
|
|
CA7907444 rs762384555 |
367 | K>N | No |
ClinGen ExAC |
|
|
rs770373473 CA7907445 |
367 | K>T | No |
ClinGen ExAC |
|
|
rs777316497 CA7907442 |
368 | R>M | No |
ClinGen ExAC |
|
|
rs747464726 CA7907440 |
368 | R>S | No |
ClinGen ExAC |
|
|
CA278343600 rs530406082 |
369 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771760925 CA7907438 |
369 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771760925 CA7907436 |
369 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7907439 rs530406082 |
369 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907428 rs777836847 |
370 | R>M | No |
ClinGen ExAC |
|
|
CA7907427 rs752553430 |
370 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907432 rs753747534 |
370 | R>W | No |
ClinGen ExAC |
|
|
CA7907424 rs763286383 |
371 | A>S | No |
ClinGen ExAC |
|
|
rs763286383 CA7907425 |
371 | A>T | No |
ClinGen ExAC |
|
|
CA7907423 rs750720469 |
371 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394786831 rs769219117 |
372 | A>D | No |
ClinGen ExAC TOPMed |
|
|
CA7907421 rs141584024 |
372 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA7907420 rs141584024 |
372 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA7907419 rs769219117 |
372 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs745499552 CA7907414 |
373 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770426934 CA7907412 |
373 | E>A | No |
ClinGen ExAC |
|
|
rs777517814 CA7907410 |
373 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770426934 CA7907413 |
373 | E>G | No |
ClinGen ExAC |
|
|
rs745499552 CA7907416 |
373 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745499552 CA7907415 |
373 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7907407 rs781016070 |
374 | V>A | No |
ClinGen ExAC |
|
|
rs781016070 CA7907409 |
374 | V>E | No |
ClinGen ExAC |
|
|
rs781016070 CA7907408 |
374 | V>G | No |
ClinGen ExAC |
|
|
CA394786825 rs1205215183 |
374 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs975253895 CA7907404 |
375 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7907401 rs1555507369 |
375 | E>A | No |
ClinGen Ensembl |
|
|
rs975253895 CA7907403 |
375 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs551208131 CA394786819 |
376 | P>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1418522764 CA394786816 |
376 | P>L | No |
ClinGen TOPMed |
|
|
CA7907397 rs551208131 |
376 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA7907396 rs551208131 |
376 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs765611030 CA7907391 |
377 | S>* | No |
ClinGen ExAC TOPMed |
|
|
CA394786812 rs765611030 |
377 | S>L | No |
ClinGen ExAC TOPMed |
|
|
rs1273884677 CA394786807 |
378 | S>* | No |
ClinGen TOPMed |
|
|
rs57225110 CA7907390 |
378 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs118142732 CA278343475 |
379 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs118142732 CA7907388 |
379 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907387 rs761267408 |
380 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394786797 rs60168629 |
380 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7907386 rs761267408 |
380 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401364334 CA394786798 |
380 | E>V | No |
ClinGen gnomAD |
|
|
rs1156871065 CA394786792 |
381 | P>H | No |
ClinGen gnomAD |
|
|
CA394786787 rs1430237459 |
382 | K>* | No |
ClinGen gnomAD |
|
|
CA394786783 rs1479625558 |
382 | K>N | No |
ClinGen gnomAD |
|
|
CA7907383 rs759963000 |
382 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394786782 rs1244336821 |
383 | R>G | No |
ClinGen gnomAD |
|
|
CA278343436 rs970968012 |
384 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA278343439 rs970968012 |
384 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394786774 rs1445944151 |
384 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394786772 rs1567461020 |
385 | R>G | No |
ClinGen Ensembl |
|
|
rs770588361 CA7907381 |
385 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394786769 rs770588361 |
385 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867918463 CA278343428 |
387 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs772798415 CA7907377 |
387 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394786756 rs867918463 |
387 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394786750 rs1439069924 |
388 | K>R | No |
ClinGen TOPMed |
|
|
rs1386488091 CA394786740 |
390 | R>G | No |
ClinGen TOPMed |
|
|
CA7907376 rs769232094 |
391 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322410980 CA394786727 |
392 | G>R | No |
ClinGen TOPMed |
|
|
CA394786728 rs1322410980 |
392 | G>S | No |
ClinGen TOPMed |
|
|
CA394786711 rs1429995416 |
394 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1443359982 CA394786699 |
396 | Q>E | No |
ClinGen TOPMed |
|
|
CA394786680 rs1318697599 |
398 | A>W | No |
ClinGen gnomAD |
No associated diseases with A6NJ64
No regional properties for A6NJ64
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A6NJ64 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UND3 | NPIPA1 | Nuclear pore complex-interacting protein family member A1 | Homo sapiens (Human) | PR |
| F8WFD2 | NPIPA3 | Nuclear pore complex-interacting protein family member A3 | Homo sapiens (Human) | PR |
| P0DM63 | NPIPA8 | Nuclear pore complex-interacting protein family member A8 | Homo sapiens (Human) | PR |
| E9PIF3 | NPIPA2 | Nuclear pore complex-interacting protein family member A2 | Homo sapiens (Human) | PR |
| E9PKD4 | NPIPA5 | Nuclear pore complex-interacting protein family member A5 | Homo sapiens (Human) | PR |
| E9PJI5 | NPIPA7 | Nuclear pore complex-interacting protein family member A7 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFCCLGYEWL | SGGCKTWHSA | WVINTLADHH | HRGTDFGGSP | WLRIIIAFPR | SYKVVLTLWT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VYLWLSFLKT | IFQSENGHDV | STDVQQRARR | SNRRRQEGLR | SICMHTKKRV | SSFPGNKIGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDVITLRRHV | ETKGRAKIRK | MKVTTKINHH | DKINGKRKTA | KKQKLSVKEC | EHAEKERQVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EAEENGKLDM | KEIHTYMKMF | QRAQELRRRA | EDYHKCKIPP | SARKALCNWV | RMAAAEHRHS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SGLPYWPYLT | AETLKNRMGH | QPPPPTQQHS | ITDNSLSLKT | PPECLLTPLP | PSADDNLKTP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PECLLTPLPP | SAPPSADDNL | KTPPLATQEA | EAEKPPKPKR | WRAAEMESPP | EPKRRRAAEV |
| 370 | 380 | 390 | |||
| ESPPEPKRRR | AAEVEPSSPE | PKRRRLSKLR | TGHCTQA |