Q86XE3
Gene name |
MICU3 (EFHA2) |
Protein name |
Calcium uptake protein 3, mitochondrial |
Names |
EF-hand domain-containing family member A2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:286097 |
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
3 structures for Q86XE3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6AGI | X-ray | 280 A | A/B | 133-512 | PDB |
| 6AGJ | X-ray | 300 A | A/B | 133-512 | PDB |
| AF-Q86XE3-F1 | Predicted | AlphaFoldDB |
484 variants for Q86XE3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA370393412 rs1296715614 |
2 | A>G | No |
ClinGen gnomAD |
|
|
rs1216590907 CA370393407 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA370393415 rs199831377 |
3 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs199831377 CA4641798 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4641797 rs781466293 |
3 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370393413 rs781466293 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199831377 CA370393416 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210156287 CA370393417 |
4 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370393419 rs770288058 |
4 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641799 rs770288058 |
4 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370393418 rs1210156287 |
4 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370393428 rs745401676 |
6 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs745401676 CA4641801 |
6 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA4641803 rs775181372 |
6 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641802 rs745401676 |
6 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA370393440 rs1479949848 |
8 | L>F | No |
ClinGen gnomAD |
|
|
rs760297492 CA4641804 |
8 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641805 rs763938987 |
11 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174010179 CA370393458 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370393457 rs1174010179 |
11 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776637688 CA4641806 |
12 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641809 rs750483107 |
13 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750483107 CA4641810 |
13 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761777555 CA4641808 |
13 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370393480 rs1289744910 |
15 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766419108 CA4641811 |
17 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs751793250 CA4641812 |
19 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1223762357 CA370393511 |
21 | H>N | No |
ClinGen gnomAD |
|
|
rs755220439 CA4641813 |
21 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs374933358 CA172882928 |
21 | H>Q | No |
ClinGen Ensembl |
|
|
CA4641814 rs781551166 |
23 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756560810 CA4641816 |
24 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4641817 rs778280523 |
25 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641818 rs749829944 |
25 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA370393543 rs1450605800 |
26 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370393542 rs1450605800 |
26 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1406760492 CA370393550 |
27 | P>Q | No |
ClinGen TOPMed |
|
|
rs986186451 CA370393554 |
28 | W>* | No |
ClinGen TOPMed |
|
|
CA172882999 rs986186451 |
28 | W>L | No |
ClinGen TOPMed |
|
|
CA4641820 rs771593237 |
29 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2705203 CA172883009 |
30 | R>P | No |
ClinGen Ensembl |
|
|
CA370393564 rs1405883152 COSM1455810 |
30 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs746673506 CA4641822 |
33 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4641826 rs769814462 |
35 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172883063 rs966272199 |
36 | L>V | No |
ClinGen gnomAD |
|
|
CA172883073 rs992682130 |
37 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA172883093 rs550558198 |
40 | G>D | No |
ClinGen 1000Genomes TOPMed |
|
|
rs550558198 CA370393621 |
40 | G>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4641830 rs751593608 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358247719 CA370393623 |
41 | R>W | No |
ClinGen gnomAD |
|
|
CA4641831 rs759742770 |
42 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641833 rs767653174 |
43 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1180831636 CA370393649 |
45 | S>F | No |
ClinGen gnomAD |
|
|
CA370393650 rs753015967 COSM3698991 |
46 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4641834 rs753015967 |
46 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA370393680 rs1585123540 |
50 | E>* | No |
ClinGen Ensembl |
|
|
rs375812507 CA370393693 |
52 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375812507 CA4641837 |
52 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4641838 rs570359880 |
53 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs909672237 CA172883165 |
55 | E>D | No |
ClinGen TOPMed |
|
|
rs1047234266 CA172883142 |
55 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1047234266 CA172883149 |
55 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4641839 rs779552849 |
55 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469019412 CA370393713 |
56 | A>T | No |
ClinGen TOPMed |
|
|
CA172883178 rs1049404322 |
59 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA370393737 rs1049404322 |
59 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1421363759 CA370393744 |
60 | R>L | No |
ClinGen TOPMed |
|
|
rs941015734 CA172883193 |
61 | R>L | No |
ClinGen TOPMed |
|
|
CA4641844 rs781023389 |
64 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172883208 CA4641843 rs781023389 |
64 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641842 rs540076192 |
64 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1461946616 CA370393760 |
64 | W>R | No |
ClinGen TOPMed |
|
|
rs1037229859 CA370393765 |
65 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA172883210 rs1037229859 |
65 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA172883212 rs905070817 |
66 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370393771 rs905070817 |
66 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4641845 rs769698861 |
67 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172883227 rs1056279904 |
69 | V>G | No |
ClinGen TOPMed |
|
|
CA370393791 rs1416547367 |
69 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370393812 rs1356591854 |
72 | A>V | No |
ClinGen gnomAD |
|
|
CA370393829 rs1270578746 |
75 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370393827 rs1195055446 |
75 | G>W | No |
ClinGen gnomAD |
|
|
CA370393835 rs1245333273 |
76 | G>A | No |
ClinGen TOPMed |
|
|
CA370393842 rs1585124091 |
78 | V>I | No |
ClinGen Ensembl |
|
|
CA172883231 rs892290241 |
81 | V>A | No |
ClinGen Ensembl |
|
|
CA370393873 rs1440813567 |
83 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs535636469 CA4641848 |
87 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370393906 rs1234782646 |
88 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA370393907 rs1234782646 |
88 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs781247725 CA370393918 |
89 | P>L | No |
ClinGen TOPMed |
|
|
rs781247725 CA172883244 |
89 | P>R | No |
ClinGen TOPMed |
|
|
CA370393916 rs1585124239 |
89 | P>S | No |
ClinGen Ensembl |
|
|
CA370393928 rs1475190512 |
91 | A>D | No |
ClinGen gnomAD |
|
|
CA370393927 rs555567883 |
91 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4641850 rs555567883 |
91 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs28539976 CA4641851 |
92 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA172883297 rs966239714 |
97 | G>E | No |
ClinGen gnomAD |
|
|
CA370393966 rs1404527433 |
98 | R>* | No |
ClinGen gnomAD |
|
|
rs966874094 CA172883314 |
99 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs966874094 CA370393974 |
99 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1449900154 CA370393978 |
100 | S>* | No |
ClinGen gnomAD |
|
|
CA172883321 rs976292433 |
101 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA172883330 rs919535030 |
101 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs925463221 CA172883340 |
102 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1226181509 CA370393999 |
103 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA172883347 rs950882637 |
105 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA370394009 rs950882637 |
105 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA172883353 rs950882637 |
105 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs985742069 CA172883365 |
106 | E>A | No |
ClinGen TOPMed |
|
|
rs912229512 CA172883367 |
107 | P>H | No |
ClinGen TOPMed |
|
|
rs985011168 CA172883366 |
107 | P>S | No |
ClinGen Ensembl |
|
|
CA4641853 rs557690233 |
108 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1433226753 CA370394035 |
109 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1205694951 CA370394029 |
109 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs918346741 CA172883405 |
110 | P>R | No |
ClinGen TOPMed |
|
|
rs545378498 CA4641854 |
110 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545378498 CA370394037 |
110 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs865800668 CA172883418 |
111 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200500624 CA4641855 |
111 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs926289022 CA370394045 |
112 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA172883447 rs926289022 |
112 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370394057 rs1261983239 |
114 | R>Q | No |
ClinGen TOPMed |
|
|
CA172883460 rs1056375512 |
115 | G>V | No |
ClinGen Ensembl |
|
|
CA370394067 rs1278243718 |
116 | M>L | No |
ClinGen TOPMed |
|
|
CA370394076 rs1563253020 |
117 | L>Q | No |
ClinGen Ensembl |
|
|
CA172883504 rs892424669 |
118 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370394092 rs1173844780 |
120 | P>A | No |
ClinGen gnomAD |
|
|
rs1405546205 CA370394097 |
121 | V>M | No |
ClinGen TOPMed |
|
|
CA172883534 rs903914752 |
122 | A>V | No |
ClinGen Ensembl |
|
|
rs1422134702 CA370394108 |
123 | A>T | No |
ClinGen Ensembl |
|
|
rs1007657526 CA172883538 |
124 | A>P | No |
ClinGen TOPMed |
|
|
rs1007657526 CA370394114 |
124 | A>T | No |
ClinGen TOPMed |
|
|
CA370394120 rs1441466450 |
125 | K>E | No |
ClinGen gnomAD |
|
|
CA370394123 rs1381308782 |
125 | K>R | No |
ClinGen gnomAD |
|
|
CA4641858 rs751040827 |
126 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156788370 CA370394128 |
126 | E>Q | No |
ClinGen TOPMed |
|
|
CA370394137 rs1368588877 |
127 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA370394138 rs1368588877 |
127 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1025283314 CA172924581 |
128 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370396005 rs1246036896 |
128 | V>I | No |
ClinGen gnomAD |
|
|
CA370396025 rs1479956768 |
131 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1479956768 CA370396027 |
131 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142411600 CA4641889 |
132 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142411600 CA4641888 |
132 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4641890 rs539913797 |
133 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4641891 rs765515151 |
134 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA172924594 rs201988057 |
134 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA370396047 rs1178352566 |
135 | I>S | No |
ClinGen TOPMed |
|
|
rs773630135 CA4641892 |
135 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 139 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA172924617 rs528346767 |
140 | L>V | No |
ClinGen Ensembl |
|
|
CA370396091 rs1405754085 COSM181910 |
141 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1398985165 CA370396088 |
141 | Y>H | No |
ClinGen TOPMed |
|
|
rs962518330 CA172924641 |
144 | S>F | No |
ClinGen TOPMed |
|
|
CA370396120 rs962518330 |
144 | S>Y | No |
ClinGen TOPMed |
|
|
CA4641896 rs755652013 |
145 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641897 rs755652013 |
145 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752211068 CA4641895 |
145 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM239678 CA370396157 rs1333364327 |
148 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 148 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200154899 CA172924669 |
150 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201654618 CA4641899 |
150 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4641900 rs201654618 |
150 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750233627 CA4641901 |
151 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs542651228 CA4641902 |
153 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4641905 rs532037829 |
155 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746990587 CA4641904 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781391727 CA4641906 |
156 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992040526 CA172924717 |
157 | C>R | No |
ClinGen TOPMed |
|
|
CA849266121 rs1245640547 |
158 | E>* | No |
ClinGen TOPMed |
|
|
rs748250877 CA4641907 |
158 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs151288641 CA4641908 |
159 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1240680025 CA370396291 |
159 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370396295 rs1240680025 |
159 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA370396301 rs1428782071 |
160 | Q>K | No |
ClinGen TOPMed |
|
|
rs1344676115 CA370396309 |
160 | Q>R | No |
ClinGen TOPMed |
|
|
rs773398520 CA4641909 |
161 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA370396322 rs773398520 |
161 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA172924752 rs981248910 |
162 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 162 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370396353 rs1446784861 |
164 | T>S | No |
ClinGen gnomAD |
|
|
CA4641912 rs771460585 |
165 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4641913 rs760174468 |
165 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771460585 CA4641911 |
165 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1475266365 CA370396366 |
166 | Y>* | No |
ClinGen gnomAD |
|
|
CA370396364 rs1419543943 |
166 | Y>C | No |
ClinGen gnomAD |
|
|
CA4641915 rs753397356 |
168 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA370396401 rs1360906828 |
171 | A>V | No |
ClinGen gnomAD |
|
|
rs527903891 CA172924808 |
172 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs527903891 CA4641916 |
172 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370396411 rs764968370 |
173 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641917 rs764968370 |
173 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183221536 CA370396413 |
174 | T>A | No |
ClinGen TOPMed |
|
|
rs200905352 CA4641919 |
175 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484644985 CA370396419 |
175 | D>H | No |
ClinGen TOPMed |
|
|
CA370396431 rs1345467000 |
176 | E>D | No |
ClinGen gnomAD |
|
|
CA4641920 rs779875407 |
176 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751485839 CA4641921 |
177 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA370396886 rs1554519388 |
180 | A>S | No |
ClinGen Ensembl |
|
|
CA172929749 rs867600533 |
180 | A>V | No |
ClinGen Ensembl |
|
|
CA4641947 rs749515238 |
183 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1336826678 CA370396977 |
185 | S>L | No |
ClinGen TOPMed |
|
|
rs1261814654 CA370397003 |
188 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770467999 CA4641974 |
195 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767335819 CA4641977 |
196 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4641979 rs760599266 |
197 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1322928167 CA370395658 |
200 | P>A | No |
ClinGen TOPMed |
|
|
CA4641980 rs764152116 |
202 | W>G | No |
ClinGen ExAC |
|
|
CA370395673 rs1554522647 |
202 | W>L | No |
ClinGen Ensembl |
|
|
CA4641982 rs373857886 |
203 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs574837028 CA4641981 |
203 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4641983 rs537594168 |
205 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA370395698 rs1189801220 |
206 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370395701 rs1475324747 |
207 | K>E | No |
ClinGen gnomAD |
|
|
CA4641986 rs780400878 |
208 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM109721 CA4641988 rs150021056 |
210 | R>* | liver oesophagus large_intestine endometrium skin Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs565232734 COSM1173397 CA4641989 |
210 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs748701997 CA4641991 |
211 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4641992 rs770410801 |
212 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199805391 CA370395746 |
214 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199805391 CA4641994 |
214 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA172867133 rs953602800 |
216 | G>D | No |
ClinGen gnomAD |
|
|
CA370395759 rs1353708770 |
216 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1288602778 CA370396118 |
217 | V>M | No |
ClinGen gnomAD |
|
|
CA370396217 rs1340472368 |
224 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4642011 rs199871743 |
226 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209779652 CA370396269 |
228 | C>R | No |
ClinGen gnomAD |
|
|
rs1563346586 CA370396306 |
230 | L>* | No |
ClinGen Ensembl |
|
|
CA4642039 rs769668921 |
234 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769668921 CA370396581 |
234 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA172870757 rs200859456 |
234 | H>Y | No |
ClinGen 1000Genomes |
|
|
CA4642041 rs148666305 |
239 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA172870783 rs866660906 |
240 | A>T | No |
ClinGen Ensembl |
|
|
rs1483930814 CA370396677 |
242 | N>T | No |
ClinGen TOPMed |
|
|
CA4642042 rs770911769 COSM1552237 |
243 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA172870788 rs999282260 |
246 | T>N | No |
ClinGen TOPMed |
|
|
rs1220938256 CA370396753 |
248 | G>D | No |
ClinGen gnomAD |
|
|
CA370396782 rs1306252152 |
251 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370396806 rs1208795403 |
253 | D>H | No |
ClinGen gnomAD |
|
|
CA370396877 rs1585411000 |
257 | F>V | No |
ClinGen Ensembl |
|
|
rs1397780422 CA370396939 |
259 | V>A | No |
ClinGen TOPMed |
|
|
CA370397261 rs1351011558 |
261 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284632926 CA370397273 |
262 | E>D | No |
ClinGen gnomAD |
|
|
rs1321060985 CA370397277 |
263 | I>L | No |
ClinGen gnomAD |
|
|
CA172872468 rs112253967 |
263 | I>M | No |
ClinGen Ensembl |
|
|
CA4642068 rs777059323 |
264 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1248380625 CA370397283 |
264 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 265 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762169541 CA4642070 |
266 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4642071 rs141246387 |
266 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751076440 CA4642072 |
266 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1159644897 CA370397301 |
267 | K>E | No |
ClinGen gnomAD |
|
| rs199759760 | 268 | N>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403954297 CA370397325 |
270 | K>E | No |
ClinGen gnomAD |
|
|
rs578221124 CA4642076 |
270 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1474915602 CA370397336 |
271 | R>S | No |
ClinGen TOPMed |
|
|
rs1046694910 CA172872551 |
272 | E>G | No |
ClinGen Ensembl |
|
|
CA4642078 rs752287110 |
277 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370397385 rs1190249320 |
278 | E>V | No |
ClinGen TOPMed |
|
|
CA4642079 rs751018914 |
280 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4642080 rs370647732 |
280 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199936197 CA4642081 |
281 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000042305 CA172872597 |
281 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 282 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4642082 rs144959956 |
282 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370397407 rs1291996121 |
282 | M>T | No |
ClinGen gnomAD |
|
|
CA4642083 rs144959956 |
282 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867237206 CA172872612 |
283 | L>P | No |
ClinGen Ensembl |
|
|
CA4642105 rs755116160 |
284 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs781446782 CA4642106 |
284 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370397431 rs1202298652 |
285 | L>V | No |
ClinGen Ensembl |
|
|
rs1383128857 CA370397455 |
288 | Y>C | No |
ClinGen TOPMed |
|
|
rs1412349887 CA370397452 |
288 | Y>H | No |
ClinGen gnomAD |
|
|
CA4642107 rs577425703 |
290 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486064067 CA370397473 |
291 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs773715005 CA4642109 |
291 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886125078 CA370397483 |
292 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs886125078 CA172875933 |
292 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1443419785 CA370397479 |
292 | S>T | No |
ClinGen TOPMed |
|
|
rs886125078 CA370397482 |
292 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1296318896 CA370397485 |
293 | P>A | No |
ClinGen gnomAD |
|
|
rs1444900666 CA370397492 |
294 | T>A | No |
ClinGen TOPMed |
|
|
rs1228288595 CA370397500 |
295 | N>S | No |
ClinGen gnomAD |
|
|
CA4642111 rs771583400 |
296 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4642134 rs761401227 |
297 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4642135 rs764891589 |
300 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA172883951 rs985146618 |
300 | T>S | No |
ClinGen TOPMed |
|
|
CA370397993 rs1326614144 |
301 | D>V | No |
ClinGen gnomAD |
|
|
CA370398041 rs1376465671 |
306 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs766139081 CA4642138 |
310 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892574757 CA172883997 |
312 | D>N | No |
ClinGen gnomAD |
|
|
CA4642140 rs200222701 |
313 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4642141 rs200222701 |
313 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370398140 rs1337911579 |
314 | L>P | No |
ClinGen gnomAD |
|
|
CA4642143 rs756364772 |
314 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs778110266 CA4642144 |
315 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370398149 rs778110266 |
315 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202243126 CA4642145 |
316 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM145358 CA4642147 rs779213885 |
316 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4642146 rs202243126 |
316 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4642149 rs772470650 |
318 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1341409491 CA370398186 |
319 | S>I | No |
ClinGen TOPMed |
|
|
CA4642150 rs780632265 |
321 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4642152 rs747691787 |
325 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4642153 rs772831859 |
326 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4642156 rs369698557 |
327 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369698557 CA4642155 |
327 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759465150 CA4642157 |
328 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs201776772 CA4642194 |
329 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4642195 rs374645079 |
329 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370398393 rs1190162442 |
330 | A>V | No |
ClinGen gnomAD |
|
|
rs146521840 CA4642196 |
333 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA172889913 rs112454980 |
335 | S>G | No |
ClinGen Ensembl |
|
|
rs746886073 CA4642198 |
336 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4642200 rs776733635 |
337 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs951154615 CA172889973 |
338 | T>A | No |
ClinGen gnomAD |
|
|
CA172889974 rs982716276 |
339 | D>G | No |
ClinGen Ensembl |
|
|
CA4642203 rs765410229 |
340 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4642202 rs765410229 |
340 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1189515796 CA370398458 |
341 | T>A | No |
ClinGen gnomAD |
|
|
CA370398468 rs1454833613 |
343 | L>I | No |
ClinGen gnomAD |
|
|
rs909813617 CA172889982 |
344 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA172889983 rs866300143 |
345 | H>N | No |
ClinGen Ensembl |
|
|
rs766670510 CA4642205 |
346 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA172890012 rs199588638 |
349 | K>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs751940168 CA4642208 |
350 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA4642210 rs755434329 |
352 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441103844 CA370398531 |
352 | K>N | No |
ClinGen gnomAD |
|
|
CA4642209 rs755434329 |
352 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953765889 CA172890052 |
353 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1263483158 CA370398533 |
353 | A>T | No |
ClinGen TOPMed |
|
|
rs953765889 CA370398537 |
353 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4642212 rs753295478 |
354 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4642213 rs778551274 |
355 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1336478515 CA370398556 |
356 | N>K | No |
ClinGen TOPMed |
|
|
rs745443351 CA4642214 |
357 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs779947528 CA4642216 |
361 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4642217 rs746832652 |
361 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768612883 CA4642218 |
362 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551599148 COSM1455812 CA4642241 |
363 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1218116954 CA370398619 COSM1455812 |
363 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4642242 rs374778246 |
365 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769790279 CA4642243 |
367 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280791196 CA370398656 |
368 | Q>H | No |
ClinGen TOPMed |
|
|
CA370398662 rs1278175361 |
369 | T>I | No |
ClinGen gnomAD |
|
|
rs777672936 CA4642244 |
371 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA172891266 rs1055575487 |
372 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370398677 rs1213434414 |
372 | L>V | No |
ClinGen gnomAD |
|
|
rs964742035 CA172891276 |
374 | I>L | No |
ClinGen gnomAD |
|
|
CA4642245 rs749330695 |
374 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4642246 rs771044367 |
376 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1325168926 CA370398704 |
376 | F>Y | No |
ClinGen TOPMed |
|
|
rs759821592 CA4642248 |
378 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4642247 rs571367838 |
378 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1432674372 CA370398721 |
379 | Y>S | No |
ClinGen gnomAD |
|
|
CA370398731 rs1399223039 |
380 | S>L | No |
ClinGen TOPMed |
|
|
rs1175237622 CA370398734 |
381 | N>D | No |
ClinGen gnomAD |
|
|
CA4642250 rs775935983 |
382 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs371257325 CA4642251 |
383 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs996220180 CA172891350 |
383 | M>V | No |
ClinGen TOPMed |
|
|
rs764695159 CA4642252 |
386 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754436884 CA4642253 |
387 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA370398790 rs1345948527 |
389 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs866963641 CA172891369 |
392 | A>G | No |
ClinGen Ensembl |
|
|
CA172891377 rs769530723 |
393 | H>Y | No |
ClinGen Ensembl |
|
|
rs1477765575 CA370398835 |
395 | L>R | No |
ClinGen TOPMed |
|
|
rs762531405 CA4642255 |
397 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4642257 rs374157850 |
397 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4642256 rs374157850 |
397 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286936671 CA370398854 |
399 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370398863 rs1193232221 |
400 | N>S | No |
ClinGen gnomAD |
|
|
CA370398895 rs1378914290 |
405 | S>P | No |
ClinGen gnomAD |
|
|
rs780794939 CA4642259 |
407 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780794939 CA370398907 |
407 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 408 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752565476 CA4642260 |
408 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143132509 COSM1097444 CA4642263 |
412 | R>C | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774411224 COSM301255 CA4642264 |
412 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA370398954 rs567535872 |
414 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567535872 CA4642266 |
414 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370398974 rs1375713637 |
417 | E>K | No |
ClinGen TOPMed |
|
|
rs775679044 CA4642268 |
418 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772359765 CA4642267 |
418 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761070942 CA4642270 CA4642269 |
419 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA172901033 rs992288658 |
420 | G>D | No |
ClinGen Ensembl |
|
|
rs760248542 CA4642296 |
420 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4642297 rs763818030 |
422 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs371778607 CA172901039 |
424 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs1585562661 CA370399312 |
424 | D>G | No |
ClinGen Ensembl |
|
|
rs1585562698 CA370399355 |
427 | R>K | No |
ClinGen Ensembl |
|
|
CA4642299 rs757144737 |
427 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765129609 CA4642300 |
429 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4642301 rs750378199 |
432 | F>Y | No |
ClinGen ExAC |
|
| TCGA novel | 433 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370399415 rs1194599310 |
434 | N>D | No |
ClinGen gnomAD |
|
|
CA370399419 rs1554539276 |
434 | N>K | No |
ClinGen Ensembl |
|
|
CA4642302 rs758491843 |
434 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA172901064 rs1041369945 |
435 | N>D | No |
ClinGen TOPMed |
|
|
CA370399429 rs1252683583 |
436 | L>V | No |
ClinGen gnomAD |
|
|
rs936156878 CA172901081 |
440 | A>E | No |
ClinGen TOPMed |
|
|
rs1188760895 CA370399464 |
441 | I>V | No |
ClinGen gnomAD |
|
|
rs1356016244 CA370399472 |
442 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748490146 CA4642307 |
444 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs748490146 CA4642308 |
444 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1434524738 CA370399499 |
446 | Y>F | No |
ClinGen gnomAD |
|
|
rs150331831 CA172901136 |
446 | Y>N | No |
ClinGen ESP |
|
|
CA370399516 rs137987082 |
448 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4642310 rs368515926 |
450 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370399531 rs1415869159 |
451 | R>C | Variant assessed as Somatic; 9.263e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771542307 CA4642311 |
451 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265594232 CA370399543 |
453 | I>V | No |
ClinGen TOPMed |
|
|
rs774875424 CA4642312 |
454 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760323323 CA4642313 |
455 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368153367 CA4642332 |
456 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370399807 rs1455009490 |
457 | E>G | No |
ClinGen gnomAD |
|
|
CA4642333 rs371647973 |
459 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4642334 rs376559239 |
460 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs190057007 CA4642335 |
460 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190057007 CA4642336 |
460 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182707903 CA4642339 |
462 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182707903 CA4642338 COSM1204987 |
462 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4642340 rs759671104 |
463 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370399899 rs1585572829 |
464 | V>A | No |
ClinGen Ensembl |
|
|
rs377251314 CA172903598 |
469 | K>R | No |
ClinGen ESP gnomAD |
|
|
TCGA novel rs1225465073 CA370399938 |
470 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA172903601 rs868734350 |
471 | S>L | No |
ClinGen Ensembl |
|
|
CA4642343 rs774331215 |
472 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370399950 rs1450227153 |
472 | P>T | No |
ClinGen gnomAD |
|
|
CA370399958 rs1194948094 |
473 | H>P | No |
ClinGen gnomAD |
|
|
rs1425489177 CA370399957 |
473 | H>Y | No |
ClinGen TOPMed |
|
|
rs756417776 CA4642344 |
475 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1387359775 CA370399976 |
476 | N>Y | No |
ClinGen TOPMed |
|
|
rs778148766 CA4642345 |
477 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA370400006 rs1563400692 |
480 | K>R | No |
ClinGen Ensembl |
|
|
CA4642347 rs757679706 |
481 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183608300 CA370400034 |
484 | V>F | No |
ClinGen gnomAD |
|
|
CA4642348 rs779266835 |
486 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA370400057 rs1162113390 |
487 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 487 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370400058 rs1162113390 |
487 | D>V | No |
ClinGen gnomAD |
|
|
CA4642349 rs143438471 |
489 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370400073 rs1449301957 |
489 | Q>P | No |
ClinGen TOPMed |
|
|
CA370400071 rs1449301957 |
489 | Q>R | No |
ClinGen TOPMed |
|
|
CA370400085 rs1487805214 |
491 | S>C | No |
ClinGen TOPMed |
|
|
CA370400086 rs1419957087 |
491 | S>N | No |
ClinGen gnomAD |
|
|
COSM1097445 rs747744646 CA4642352 |
494 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA172903663 rs1039735415 |
494 | E>D | No |
ClinGen TOPMed |
|
|
rs747744646 CA172903658 |
494 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370400107 rs747744646 |
494 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769356501 CA4642353 |
496 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370400121 rs1308596629 |
496 | I>V | No |
ClinGen gnomAD |
|
|
rs773024367 CA4642354 |
500 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370400151 rs1295139725 |
500 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370400175 rs1307795188 |
503 | L>R | No |
ClinGen TOPMed |
|
|
CA4642355 rs749009081 |
504 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370400178 rs1217354532 |
504 | H>Y | No |
ClinGen TOPMed |
|
|
rs998374987 CA172903683 CA370400190 |
506 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4642358 rs573999467 |
508 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4642356 rs770814241 |
508 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370400573 rs1379161056 |
509 | G>A | No |
ClinGen TOPMed |
|
|
CA370400569 rs1240027792 |
509 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370400583 rs1450885706 |
511 | K>E | No |
ClinGen gnomAD |
|
|
rs377123072 CA4642384 |
511 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA172905887 rs201985725 |
512 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA370400612 rs1452328045 |
515 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174296667 CA370400636 |
518 | T>I | No |
ClinGen gnomAD |
|
|
CA4642387 rs766844621 |
520 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1442128550 CA370400675 |
524 | K>R | No |
ClinGen TOPMed |
|
|
CA4642389 rs755572210 |
525 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369301862 CA370400695 |
527 | L>F | No |
ClinGen gnomAD |
|
|
CA370400729 rs1186295801 |
531 | R>Y | No |
ClinGen TOPMed |
No associated diseases with Q86XE3
3 regional properties for Q86XE3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EF-hand domain | 232 - 267 | IPR002048-1 |
| domain | EF-hand domain | 451 - 505 | IPR002048-2 |
| binding_site | EF-Hand 1, calcium-binding site | 483 - 495 | IPR018247 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| uniplex complex | A calcium channel complex in the mitochondrial inner membrane capable of highly-selective calcium channel activity. Its components include the EF-hand-containing proteins mitochondrial calcium uptake 1 (MICU1) and MICU2, the pore-forming subunit mitochondrial calcium uniporter (MCU) and its paralog MCUb, and the MCU regulator EMRE. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium import into the mitochondrion | A process in which a calcium ion (Ca2+) is transported from the cytosol into the mitochondrial matrix. |
| mitochondrial calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0IIL1 | MICU1 | Calcium uptake protein 1, mitochondrial | Bos taurus (Bovine) | PR |
| Q8VCX5 | Micu1 | Calcium uptake protein 1, mitochondrial | Mus musculus (Mouse) | PR |
| Q6P6Q9 | Micu1 | Calcium uptake protein 1, mitochondrial | Rattus norvegicus (Rat) | PR |
| B1H2N3 | micu1 | Calcium uptake protein 1, mitochondrial | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAALRRLLWP | PPRVSPPLCA | HQPLLGPWGR | PAVTTLGLPG | RPFSSREDEE | RAVAEAAWRR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RRRWGELSVA | AAAGGGLVGL | VCYQLYGDPR | AGSPATGRPS | KSAATEPEDP | PRGRGMLPIP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VAAAKETVAI | GRTDIEDLDL | YATSRERRFR | LFASIECEGQ | LFMTPYDFIL | AVTTDEPKVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KTWKSLSKQE | LNQMLAETPP | VWKGSSKLFR | NLKEKGVISY | TEYLFLLCIL | TKPHAGFRIA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FNMFDTDGNE | MVDKKEFLVL | QEIFRKKNEK | REIKGDEEKR | AMLRLQLYGY | HSPTNSVLKT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DAEELVSRSY | WDTLRRNTSQ | ALFSDLAERA | DDITSLVTDT | TLLVHFFGKK | GKAELNFEDF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YRFMDNLQTE | VLEIEFLSYS | NGMNTISEED | FAHILLRYTN | VENTSVFLEN | VRYSIPEEKG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ITFDEFRSFF | QFLNNLEDFA | IALNMYNFAS | RSIGQDEFKR | AVYVATGLKF | SPHLVNTVFK |
| 490 | 500 | 510 | 520 | ||
| IFDVDKDDQL | SYKEFIGIMK | DRLHRGFRGY | KTVQKYPTFK | SCLKKELHSR |