Q9NQZ5
Gene name |
STARD7 (GTT1) |
Protein name |
StAR-related lipid transfer protein 7, mitochondrial |
Names |
Gestational trophoblastic tumor protein 1, START domain-containing protein 7, StARD7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56910 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NQZ5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NQZ5-F1 | Predicted | AlphaFoldDB |
337 variants for Q9NQZ5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs941229827 CA52381208 |
2 | L>P | No |
ClinGen TOPMed |
|
|
rs755043599 CA52381210 |
2 | L>V | No |
ClinGen Ensembl |
|
|
rs1429338289 CA347643384 |
3 | P>L | No |
ClinGen gnomAD |
|
|
CA347643373 rs1573950118 |
4 | R>Q | No |
ClinGen Ensembl |
|
|
rs1337801102 CA347643376 |
4 | R>W | No |
ClinGen gnomAD |
|
|
CA347643359 rs1273708351 |
6 | L>P | No |
ClinGen TOPMed |
|
|
rs984791705 CA52381188 |
7 | L>P | No |
ClinGen Ensembl |
|
|
rs909829606 CA52381201 |
7 | L>V | No |
ClinGen Ensembl |
|
|
rs1415353059 CA347643352 |
8 | A>S | No |
ClinGen gnomAD |
|
|
CA347643346 rs1211767993 |
8 | A>V | No |
ClinGen TOPMed |
|
|
rs769162359 CA1777152 |
9 | A>P | No |
ClinGen ExAC TOPMed |
|
|
rs769162359 CA347643342 |
9 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA1777150 rs200913103 |
10 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs992620110 CA52381159 |
12 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs992620110 CA347643300 |
12 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347643280 rs1259739039 |
13 | G>A | No |
ClinGen gnomAD |
|
|
rs1476848940 CA347643286 |
13 | G>R | No |
ClinGen gnomAD |
|
|
rs1553433177 CA347643269 |
14 | T>K | No |
ClinGen Ensembl |
|
|
rs1553433177 CA347643267 |
14 | T>R | No |
ClinGen Ensembl |
|
|
CA347643274 rs1408067953 |
14 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1188799731 CA347643259 |
15 | R>Q | No |
ClinGen gnomAD |
|
|
CA1777148 rs746814222 |
16 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs955275229 CA52381143 |
16 | G>S | No |
ClinGen TOPMed |
|
|
rs999675309 CA347643233 |
17 | G>E | No |
ClinGen TOPMed |
|
|
rs1031106814 CA347643236 |
17 | G>R | No |
ClinGen gnomAD |
|
|
rs999675309 CA52381123 |
17 | G>V | No |
ClinGen TOPMed |
|
|
CA52381131 rs1031106814 |
17 | G>W | No |
ClinGen gnomAD |
|
|
CA347643224 rs1465900421 |
18 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1273202753 CA347643220 |
18 | G>D | No |
ClinGen gnomAD |
|
|
CA347643226 rs1465900421 |
18 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748351378 CA1777144 |
20 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347643185 rs1354724716 |
21 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1777143 rs755001755 |
21 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755001755 CA1777142 |
21 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1179213657 CA347643171 |
22 | L>R | No |
ClinGen gnomAD |
|
|
CA347643161 rs1470553965 |
23 | L>P | No |
ClinGen gnomAD |
|
|
rs780433203 CA1777140 |
24 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1484987144 CA347643154 |
24 | A>P | No |
ClinGen TOPMed |
|
|
CA347643119 rs1258228355 |
26 | Q>H | No |
ClinGen TOPMed |
|
|
CA1777138 rs201289448 |
26 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52381075 rs988324879 |
27 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988324879 CA347643114 |
27 | C>Y | No |
ClinGen TOPMed |
|
|
rs1186405547 CA347643108 |
28 | R>C | No |
ClinGen TOPMed |
|
|
CA347643107 rs1420358503 |
28 | R>H | No |
ClinGen gnomAD |
|
|
CA347643106 rs1420358503 |
28 | R>L | No |
ClinGen gnomAD |
|
|
rs767834090 CA1777137 |
29 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1412178891 CA347643098 |
29 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347643101 rs1474961183 |
29 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889415053 CA347643088 |
31 | T>K | No |
ClinGen gnomAD |
|
|
rs889415053 CA52381073 |
31 | T>M | No |
ClinGen gnomAD |
|
|
CA347643084 rs1573949926 |
32 | G>C | No |
ClinGen Ensembl |
|
|
CA1777136 rs762640108 |
32 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA347643081 rs1031820620 |
33 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA347643068 rs1252288620 |
35 | V>A | No |
ClinGen gnomAD |
|
|
CA1777132 rs776148826 CA1777133 |
35 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770797331 CA1777131 |
36 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs760650619 CA1777130 |
37 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1777129 rs773182899 |
38 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1777128 rs748441449 |
39 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1777127 rs748441449 |
39 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278713578 CA347643046 |
40 | Q>* | No |
ClinGen gnomAD |
|
|
rs774434882 CA1777126 |
40 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768859533 CA347643033 |
41 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA347643031 rs1374032461 |
42 | A>P | No |
ClinGen TOPMed |
|
|
CA1777124 rs369373844 |
43 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304546530 CA347643017 |
44 | L>F | No |
ClinGen TOPMed |
|
|
rs1161858681 CA347643007 |
45 | Y>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756650553 CA347643004 |
46 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1777121 rs756650553 |
46 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs746349285 CA1777120 |
47 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1777119 rs781592450 |
47 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746349285 CA347642999 |
47 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs933705162 CA52380882 |
48 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs933705162 CA347642995 |
48 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757612615 CA1777118 |
49 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487845912 CA347642990 |
49 | Y>H | No |
ClinGen gnomAD |
|
|
rs764810546 CA1777116 |
50 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347642975 rs1441305286 |
51 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 51 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52380790 rs753321107 |
51 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1777114 rs753321107 |
51 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347642970 rs1558739101 |
52 | S>N | No |
ClinGen Ensembl |
|
|
CA347642967 rs375475304 CA1777113 |
52 | S>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA52380781 rs941198705 |
53 | S>* | No |
ClinGen Ensembl |
|
|
rs773271351 CA347642958 |
54 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs773271351 CA1777111 |
54 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs767489044 CA1777110 |
55 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs767489044 CA347642955 |
55 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs375153536 CA1777109 |
55 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290690429 CA347642951 |
56 | V>I | No |
ClinGen gnomAD |
|
|
rs1345113584 CA347642939 |
58 | L>V | No |
ClinGen gnomAD |
|
|
CA347642933 rs1436909374 |
59 | G>R | No |
ClinGen gnomAD |
|
|
rs775814267 CA1777105 |
60 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs770302206 CA1777104 |
61 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770302206 CA347642520 |
61 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347642487 rs1377447530 |
62 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1485910267 CA347642481 |
63 | R>C | No |
ClinGen gnomAD |
|
|
CA347642476 rs1339167636 |
63 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs757387212 CA1777100 |
64 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1777098 rs11539222 |
64 | R>P | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs778095890 CA1777097 |
66 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347642436 rs1232329201 |
66 | H>R | No |
ClinGen gnomAD |
|
|
CA347642441 rs1194697594 |
66 | H>Y | No |
ClinGen TOPMed |
|
|
rs554052175 CA1777095 |
67 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1777093 rs766358681 |
68 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347642410 rs756123503 |
68 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1777092 rs756123503 |
68 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766358681 CA347642416 |
68 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145045733 CA1777090 |
69 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145045733 CA1777091 |
69 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347642384 rs1573949618 |
70 | G>V | No |
ClinGen Ensembl |
|
|
rs773839860 CA1777088 |
71 | H>Q | No |
ClinGen ExAC |
|
|
CA1777089 rs761430971 |
71 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763832768 CA1777087 |
72 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1375500267 CA347642361 |
72 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347642344 rs1261871251 |
74 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1777086 rs575047234 |
74 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1777085 rs575047234 |
74 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347642340 rs1261871251 |
74 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1486600752 CA347642316 |
76 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1258211734 CA347642294 |
78 | A>P | No |
ClinGen gnomAD |
|
|
rs1199660666 CA347642287 |
78 | A>V | No |
ClinGen gnomAD |
|
|
rs1253235783 CA347642260 |
80 | A>V | No |
ClinGen gnomAD |
|
|
CA1777083 rs770212436 |
83 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs992193468 CA52380621 |
84 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347642197 rs1272162335 |
85 | W>C | No |
ClinGen TOPMed |
|
|
rs1276352294 CA347642207 |
85 | W>G | No |
ClinGen gnomAD |
|
|
rs1235277997 CA347642180 |
86 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1214129859 CA347642176 |
87 | E>K | No |
ClinGen TOPMed |
|
|
rs1356655624 CA347642158 |
88 | E>* | No |
ClinGen gnomAD |
|
|
CA347642157 rs1573949554 |
88 | E>G | No |
ClinGen Ensembl |
|
|
rs866418925 CA52380615 |
89 | R>G | No |
ClinGen Ensembl |
|
|
rs1337520039 CA347642119 |
91 | Q>* | No |
ClinGen TOPMed |
|
|
CA347642104 rs1214895693 |
92 | E>K | No |
ClinGen TOPMed |
|
|
CA347642003 rs1394591610 |
96 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970065647 CA52408224 |
99 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1777054 rs374141714 |
100 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1353450405 CA347655576 |
101 | E>K | No |
ClinGen gnomAD |
|
|
CA347655546 rs1261897304 |
102 | M>T | No |
ClinGen gnomAD |
|
|
CA347655498 rs1244137302 |
104 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1777053 rs769676604 |
104 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347655426 rs1306572301 |
107 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 108 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1777052 rs200122639 |
108 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1777051 rs781221907 |
110 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA52408212 rs989128326 |
111 | M>I | No |
ClinGen TOPMed |
|
|
CA1777050 rs757227217 |
111 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1777048 rs777325321 |
113 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1777049 rs751521477 |
113 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550294070 CA1777047 |
118 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764901570 CA1777045 |
120 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1777044 rs200880792 |
121 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347655062 rs1364856580 |
122 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1777043 rs754214358 |
123 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347655044 rs1319167523 |
124 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570567602 CA347654985 CA1777040 |
127 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1573942429 CA347654988 |
127 | Q>P | No |
ClinGen Ensembl |
|
|
CA347654943 rs1448824044 |
130 | G>E | No |
ClinGen gnomAD |
|
|
rs558165041 CA52408133 |
130 | G>R | No |
ClinGen Ensembl |
|
|
rs762020485 CA1777038 |
131 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347654922 rs1386513888 |
131 | N>S | No |
ClinGen gnomAD |
|
|
CA1777037 rs774671221 |
134 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs769017540 CA1777036 |
136 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA347654834 rs1235539046 |
136 | G>S | No |
ClinGen gnomAD |
|
|
rs141619739 CA52408123 |
137 | K>E | No |
ClinGen ESP |
|
|
rs1573942393 CA347654774 |
138 | E>G | No |
ClinGen Ensembl |
|
|
rs745594929 CA1777035 |
138 | E>Q | No |
ClinGen ExAC |
|
|
CA347654759 rs1289002766 |
139 | Q>* | No |
ClinGen gnomAD |
|
|
rs373055559 CA1777034 |
139 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1777033 COSM3426765 rs181733184 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA347654732 rs2276650 |
140 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1777032 rs2276650 VAR_020345 |
140 | R>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA52408110 rs181733184 |
140 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347654659 rs1358599663 |
144 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771200537 CA52408078 |
149 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1171054502 CA347654436 |
151 | K>N | No |
ClinGen gnomAD |
|
|
CA347654441 rs1424647538 |
151 | K>R | No |
ClinGen gnomAD |
|
|
rs754628120 COSM1196655 CA1777027 |
154 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA347654365 rs754628120 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193093626 CA347654370 |
154 | R>W | No |
ClinGen gnomAD |
|
|
CA1777026 rs753553383 |
155 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs561682205 COSM1023853 CA1777025 |
155 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs149097861 CA1777024 COSM443383 |
156 | P>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs767936137 CA1777022 |
157 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347654289 rs1341083499 |
158 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347654253 rs1278250362 |
158 | T>I | No |
ClinGen gnomAD |
|
|
CA347654248 rs1209356910 |
159 | G>S | No |
ClinGen gnomAD |
|
|
rs1338326784 CA347654204 |
160 | T>I | No |
ClinGen gnomAD |
|
|
CA347654175 rs1358388272 |
162 | L>V | No |
ClinGen gnomAD |
|
|
rs774581450 CA1777020 |
163 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52408048 rs1027139678 |
164 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1424670070 CA347654104 |
165 | Y>H | No |
ClinGen gnomAD |
|
|
CA347654085 rs1573942295 |
166 | R>Q | No |
ClinGen Ensembl |
|
|
rs764339918 CA1777019 |
167 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs757838003 CA1777004 |
170 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs901830366 CA52407821 |
173 | D>V | No |
ClinGen Ensembl |
|
|
CA1777002 rs764248203 |
176 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200450259 CA347653816 |
177 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200450259 CA347653818 |
177 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1777000 rs200450259 |
177 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369340448 CA1777001 |
177 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1776999 rs765401746 |
181 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs150385509 CA1776998 |
181 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347653105 rs1261144366 |
187 | E>G | No |
ClinGen TOPMed |
|
|
rs146539240 CA52406914 |
188 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347653091 rs1558734624 |
188 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 191 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419003364 CA347653022 |
191 | K>R | No |
ClinGen TOPMed |
|
|
rs763770998 CA52406892 |
198 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 200 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372858958 CA1776976 |
200 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1776972 rs768599369 |
208 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 208 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1776971 rs762462471 |
208 | S>T | No |
ClinGen ExAC |
|
|
rs1296893030 CA347652725 |
209 | G>D | No |
ClinGen gnomAD |
|
|
CA347652654 rs1222182169 |
214 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1302673373 CA347652607 |
217 | T>I | No |
ClinGen gnomAD |
|
|
CA1776968 rs368142186 |
218 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1029515133 CA52406718 |
221 | Y>C | No |
ClinGen TOPMed |
|
|
rs1436103253 CA347652493 |
222 | P>A | No |
ClinGen TOPMed |
|
|
rs764625182 CA1776950 |
222 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186578722 CA347652473 |
223 | M>I | No |
ClinGen gnomAD |
|
|
rs1374702843 CA347652482 |
223 | M>V | No |
ClinGen TOPMed |
|
|
rs1240197834 CA347652446 |
226 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs569009343 CA1776948 |
226 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 228 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1776947 rs770721007 |
229 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs144418439 COSM1227750 CA52406701 |
232 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
|
CA347652368 rs1211771618 |
233 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747311185 CA1776946 |
233 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347652354 rs1265371387 |
234 | Y>C | No |
ClinGen gnomAD |
|
|
rs200306093 CA52406694 |
235 | S>G | No |
ClinGen TOPMed |
|
|
rs763820103 CA52406680 |
235 | S>N | No |
ClinGen gnomAD |
|
|
CA1776944 rs772545183 |
235 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs763820103 CA347652336 |
235 | S>T | No |
ClinGen gnomAD |
|
|
rs148778899 CA52406669 |
242 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA52406663 rs187160371 CA52406666 |
243 | M>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA347652208 rs1375758505 |
243 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347652205 rs1375758505 |
243 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347652189 rs748579701 |
244 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748579701 CA1776943 |
244 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52406662 rs945442997 |
245 | L>V | No |
ClinGen Ensembl |
|
|
CA1776942 rs779513973 COSM1023847 |
247 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 248 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347652097 rs1162603886 |
248 | R>H | No |
ClinGen gnomAD |
|
|
rs1002670848 CA52406358 |
251 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 251 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281865022 CA347651758 |
253 | P>L | No |
ClinGen TOPMed |
|
|
CA52406355 rs907045436 |
253 | P>T | No |
ClinGen Ensembl |
|
|
rs774669103 CA1776923 |
255 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769915830 CA1776919 |
261 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746062359 CA1776917 |
262 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 263 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223643967 CA347651406 |
265 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347651383 rs1216266195 |
266 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1281640886 CA347651352 |
267 | Y>H | No |
ClinGen gnomAD |
|
|
CA347651169 rs1558734320 |
271 | M>I | No |
ClinGen Ensembl |
|
|
rs1573941080 CA347651210 |
271 | M>T | No |
ClinGen Ensembl |
|
|
rs1010589483 CA52406256 |
274 | R>C | No |
ClinGen gnomAD |
|
|
CA1776914 rs762860851 |
274 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 275 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52406238 rs892448829 |
276 | H>Q | No |
ClinGen TOPMed |
|
|
CA1776913 rs778649160 |
276 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347650992 rs1412064358 |
277 | K>R | No |
ClinGen TOPMed |
|
|
CA347649710 rs1201984076 |
286 | Y>C | No |
ClinGen TOPMed |
|
|
rs369139098 CA1776900 |
287 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781214291 CA1776899 |
288 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1441631365 CA347649691 |
288 | L>V | No |
ClinGen TOPMed |
|
|
CA1776897 rs747263368 |
289 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA347649670 rs1415931370 |
290 | Y>C | No |
ClinGen TOPMed |
|
|
COSM576412 CA52403282 rs368914673 |
291 | S>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs1159951960 CA347649633 |
293 | N>S | No |
ClinGen TOPMed |
|
|
CA347649610 rs1573938724 |
295 | Q>L | No |
ClinGen Ensembl |
|
|
CA1776896 rs149632619 |
296 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1776893 rs780170884 |
297 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347649570 rs1472682102 |
299 | P>S | No |
ClinGen gnomAD |
|
|
CA52403262 rs951200488 |
300 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1227748 rs138719942 CA1776891 |
300 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA347649549 rs1238226425 |
301 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs997703035 CA52403252 |
303 | V>F | No |
ClinGen TOPMed |
|
|
rs901967167 CA52403249 |
304 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs767009305 CA1776890 |
305 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1291946556 CA347649485 |
307 | V>I | No |
ClinGen gnomAD |
|
|
CA1776889 rs141727167 |
309 | S>R | No |
ClinGen ESP ExAC |
|
|
CA52403023 rs143562757 |
311 | M>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 313 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300428336 CA347649316 |
317 | K>E | No |
ClinGen gnomAD |
|
|
rs766449072 CA1776863 |
317 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1776862 rs760700979 |
318 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs773518469 CA1776861 COSM3840275 |
320 | M>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772432796 CA1776860 |
321 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1776859 rs749019876 |
323 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868428636 CA52403004 |
326 | K>N | No |
ClinGen Ensembl |
|
|
CA347649227 rs1480063490 |
327 | N>S | No |
ClinGen gnomAD |
|
|
CA347649205 rs1266770379 |
330 | I>F | No |
ClinGen gnomAD |
|
|
CA347649204 rs1266770379 |
330 | I>V | No |
ClinGen gnomAD |
|
|
rs146759739 CA52403000 |
332 | V>L | No |
ClinGen ESP |
|
|
CA1776858 rs775418070 |
334 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA347649167 rs775418070 |
334 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs745790648 CA1776856 |
336 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1776857 rs140563521 |
336 | I>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA52402958 rs370888124 |
338 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA1776852 rs777341785 |
343 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200777125 CA1776853 |
343 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570567633 CA1776851 |
345 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 346 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765565436 CA1776849 |
349 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1776848 rs755336827 |
350 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA347648929 rs1281452228 |
354 | S>Y | No |
ClinGen gnomAD |
|
|
rs766817394 CA1776846 |
356 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1451153062 CA347648898 |
357 | K>R | No |
ClinGen gnomAD |
|
|
CA347648876 rs1176153785 |
359 | E>K | No |
ClinGen gnomAD |
|
|
rs1313885184 CA347648862 |
360 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1776843 rs767768801 |
364 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1195793193 CA347648810 |
364 | P>S | No |
ClinGen gnomAD |
|
|
CA347648799 rs932459835 |
365 | A>G | No |
ClinGen TOPMed |
|
|
rs932459835 CA52402928 |
365 | A>V | No |
ClinGen TOPMed |
|
|
COSM3380254 CA1776840 rs533954441 |
366 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs774757302 CA1776841 |
366 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203054186 CA347648783 |
367 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1321540562 CA347648771 |
368 | E>G | No |
ClinGen gnomAD |
|
|
CA1776839 rs759275696 |
369 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA52402887 rs201771782 |
370 | A>G | No |
ClinGen 1000Genomes |
|
|
rs1326412614 CA347648749 |
370 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA52402886 rs201771782 |
370 | A>V | No |
ClinGen 1000Genomes |
No associated diseases with Q9NQZ5
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipid binding | Binding to a lipid. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPRRLLAAW | LAGTRGGGLL | ALLANQCRFV | TGLRVRRAQQ | IAQLYGRLYS | ESSRRVLLGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LWRRLHGRPG | HASALMAALA | GVFVWDEERI | QEEELQRSIN | EMKRLEEMSN | MFQSSGVQHH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPEPKAQTEG | NEDSEGKEQR | WEMVMDKKHF | KLWRRPITGT | HLYQYRVFGT | YTDVTPRQFF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NVQLDTEYRK | KWDALVIKLE | VIERDVVSGS | EVLHWVTHFP | YPMYSRDYVY | VRRYSVDQEN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NMMVLVSRAV | EHPSVPESPE | FVRVRSYESQ | MVIRPHKSFD | ENGFDYLLTY | SDNPQTVFPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YCVSWMVSSG | MPDFLEKLHM | ATLKAKNMEI | KVKDYISAKP | LEMSSEAKAT | SQSSERKNEG |
| SCGPARIEYA |