Q9P0V9
Gene name |
SEPTIN10 |
Protein name |
Septin-10 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:151011 |
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 Q9P0V9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9P0V9-F1 | Predicted | AlphaFoldDB |
479 variants for Q9P0V9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1826464 rs372772922 |
2 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348076421 rs1303705353 |
4 | S>A | No |
ClinGen gnomAD |
|
|
CA348076398 rs1426538614 |
6 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1317852625 CA348076378 |
7 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA348076373 rs1317852625 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1826463 rs747118357 |
8 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1406013329 CA348076347 |
9 | H>Q | No |
ClinGen TOPMed |
|
|
rs1397924718 CA348076335 |
10 | L>P | No |
ClinGen TOPMed |
|
|
rs368644892 CA53520148 |
10 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272149678 CA348074416 |
13 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs763799724 CA1826452 |
13 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348074395 rs1284970253 |
14 | S>F | No |
ClinGen gnomAD |
|
|
rs1225447949 CA348074402 |
14 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326062424 CA348074389 |
15 | H>Y | No |
ClinGen gnomAD |
|
|
CA348074372 rs1472917051 |
16 | M>I | No |
ClinGen TOPMed |
|
|
CA1826450 rs368405950 |
16 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376547232 CA1826448 |
18 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1826449 rs376547232 |
18 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA53509820 rs976750536 |
21 | T>A | No |
ClinGen Ensembl |
|
|
rs1480568851 CA348074297 |
23 | M>T | No |
ClinGen gnomAD |
|
|
rs766278428 CA1826446 |
23 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760780109 CA1826445 |
24 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772237958 CA1826443 |
28 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1250404291 CA348074224 |
29 | D>G | No |
ClinGen gnomAD |
|
|
CA1826442 rs373916982 |
31 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774633021 CA1826441 |
31 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA348074190 rs1293046585 |
32 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348074184 rs1203202322 |
32 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348074185 rs1203202322 |
32 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1324518840 CA348074167 |
33 | I>M | No |
ClinGen gnomAD |
|
|
CA1826424 rs766151908 |
35 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826423 rs754782614 |
35 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA53505919 rs903912507 |
36 | E>K | No |
ClinGen TOPMed |
|
|
CA1826419 rs373616560 |
39 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373616560 CA1826420 |
39 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1826418 rs371041273 |
39 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348073293 rs371041273 |
39 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1826416 rs761951489 |
40 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768798518 CA1826414 |
41 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826413 rs760434343 |
43 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348073242 rs1239293944 |
44 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1826412 rs199941021 |
45 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348073205 rs1218480171 |
48 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA53505837 rs984412691 |
49 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1475783349 CA348072547 |
50 | E>K | No |
ClinGen Ensembl |
|
|
CA348072487 rs1223471672 |
52 | L>V | No |
ClinGen TOPMed |
|
|
rs373723750 CA1826410 |
53 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1310260309 CA348072452 |
53 | P>S | No |
ClinGen TOPMed |
|
|
rs944934587 CA53505820 |
54 | D>G | No |
ClinGen TOPMed |
|
|
CA1826409 rs761863838 |
54 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348072393 rs575725787 |
55 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1826408 rs575725787 |
55 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771693820 CA1826407 |
59 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226130137 CA348072278 |
60 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53505799 rs150267546 |
61 | I>V | No |
ClinGen 1000Genomes |
|
|
COSM3425099 rs1029140539 CA53505797 COSM3425098 |
62 | Q>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1826406 rs747707215 |
63 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826404 rs754620140 |
64 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754620140 CA348072193 |
64 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402210262 CA348072202 |
64 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348072150 rs1425863794 |
66 | C>R | No |
ClinGen gnomAD |
|
|
rs1441081696 CA348072142 |
66 | C>S | No |
ClinGen TOPMed |
|
|
rs755982386 CA1826401 |
67 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755982386 CA1826402 |
67 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166230069 CA348072079 |
68 | N>H | No |
ClinGen gnomAD |
|
|
CA1826400 rs767504524 |
68 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826399 rs767504524 |
68 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826398 rs761861677 |
70 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826396 rs764324375 |
71 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348071982 rs369040281 |
71 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764324375 CA53505758 |
71 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826395 rs369040281 |
71 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348071961 rs1223057955 |
72 | V>M | No |
ClinGen gnomAD |
|
|
CA348071809 rs1420379192 |
73 | G>E | No |
ClinGen TOPMed |
|
|
CA1826374 TCGA novel rs758570482 |
74 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA348071741 rs1243981571 |
76 | G>E | No |
ClinGen Ensembl |
|
|
rs1177478203 CA348071733 |
77 | I>T | No |
ClinGen gnomAD |
|
|
rs370129746 CA1826373 |
77 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348071716 rs1415907303 |
78 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765603907 CA1826372 |
79 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA53505513 rs777555335 |
80 | S>L | No |
ClinGen Ensembl |
|
|
CA1826369 rs777169237 |
81 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348071665 rs1340811068 |
81 | T>I | No |
ClinGen TOPMed |
|
|
rs1460526673 CA348071643 |
82 | L>R | No |
ClinGen gnomAD |
|
|
CA1826368 rs779823796 |
82 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211841532 CA348071634 |
83 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773844806 CA1826366 |
85 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs1314242639 CA348071592 |
85 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1355045330 CA348071577 |
86 | L>S | No |
ClinGen gnomAD |
|
|
rs1036516905 CA53505490 |
88 | N>S | No |
ClinGen TOPMed |
|
|
rs375814807 CA1826364 |
89 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774985954 CA1826363 |
90 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1382150587 CA348071470 |
90 | N>K | No |
ClinGen gnomAD |
|
|
CA348071439 rs1303600336 |
92 | E>K | No |
ClinGen gnomAD |
|
|
CA1826359 rs531592924 |
94 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1826360 rs531592924 |
94 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769479944 CA1826362 |
94 | Y>N | No |
ClinGen ExAC |
|
|
CA348071399 rs531592924 |
94 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348071355 rs1180014322 |
97 | S>L | No |
ClinGen TOPMed |
|
|
CA1826358 rs757115897 |
98 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348071338 rs1382076137 |
99 | F>Y | No |
ClinGen gnomAD |
|
|
rs777822989 CA1826356 |
101 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA348071287 rs79975047 |
102 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1826354 rs77983749 |
102 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA1826355 rs79975047 |
102 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA53505425 rs887921205 |
104 | K>R | No |
ClinGen TOPMed |
|
|
CA348071230 rs1484680324 |
105 | L>P | No |
ClinGen gnomAD |
|
|
CA348071201 rs1464516590 |
107 | A>D | No |
ClinGen TOPMed |
|
|
CA348071188 rs1558827350 |
108 | Q>* | No |
ClinGen Ensembl |
|
|
CA1826351 rs755274060 |
109 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348071157 rs1402715333 |
109 | T>I | No |
ClinGen TOPMed |
|
|
rs1244457782 CA348071139 |
110 | Y>C | No |
ClinGen gnomAD |
|
|
rs766855175 CA1826349 |
111 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1826348 rs761173204 |
112 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348071041 rs1558827118 |
115 | S>G | No |
ClinGen Ensembl |
|
|
CA348071025 rs1288567366 |
116 | N>D | No |
ClinGen gnomAD |
|
|
CA1826347 rs750885338 |
116 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1362256002 CA348070998 |
117 | V>G | No |
ClinGen gnomAD |
|
|
rs192284223 CA1826346 |
119 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762341040 CA1826345 |
121 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53505396 rs372542138 |
122 | T>N | No |
ClinGen ESP TOPMed |
|
|
rs775001002 CA1826344 |
123 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1418321675 CA348070880 |
124 | V>M | No |
ClinGen gnomAD |
|
|
CA348070862 rs1573680647 |
125 | N>H | No |
ClinGen Ensembl |
|
|
CA1826343 rs769375920 |
125 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA348070793 rs1321651155 |
128 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs944490082 CA53505374 |
129 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759190118 CA1826342 |
130 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA53505372 rs940884936 |
131 | D>E | No |
ClinGen TOPMed |
|
|
rs1224375768 CA348070707 |
132 | Q>R | No |
ClinGen gnomAD |
|
|
CA1826341 rs776328974 |
133 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1490329152 CA348070610 |
135 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1352810141 CA348070533 |
138 | S>C | No |
ClinGen gnomAD |
|
|
rs756144716 CA53505364 |
138 | S>N | No |
ClinGen Ensembl |
|
|
rs1331418944 CA348068259 |
140 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs779061094 CA1826317 |
141 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749431866 CA1826315 |
142 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826314 rs780395467 |
145 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469584939 CA348068160 |
146 | I>T | No |
ClinGen TOPMed |
|
|
CA1826313 rs756393819 |
146 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178798190 CA535593928 |
147 | D>* | No |
ClinGen gnomAD |
|
|
rs1417841945 CA348068142 |
147 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768945992 CA1826312 |
147 | D>V | No |
ClinGen ExAC |
|
|
rs1439480964 CA348068134 |
148 | A>P | No |
ClinGen gnomAD |
|
|
rs367885411 CA1826311 |
148 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1826310 rs781621559 |
149 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1826309 rs757625865 |
149 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348068098 rs1241470246 |
150 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs567145471 CA53499039 |
152 | A>V | No |
ClinGen Ensembl |
|
|
rs764633806 CA348068033 |
153 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs752044871 COSM569452 COSM1141766 CA1826308 |
153 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1826306 rs56280142 |
156 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353213251 CA348067974 |
156 | E>V | No |
ClinGen TOPMed |
|
|
rs1236685418 CA348067966 |
157 | E>* | No |
ClinGen gnomAD |
|
|
rs1236685418 CA348067967 |
157 | E>Q | No |
ClinGen gnomAD |
|
|
rs202055528 CA1826305 |
158 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348067951 rs1237094945 |
158 | L>R | No |
ClinGen gnomAD |
|
|
CA348067945 rs1573591112 |
159 | K>Q | No |
ClinGen Ensembl |
|
|
CA348067924 rs1351793554 |
160 | I>M | No |
ClinGen TOPMed |
|
|
rs765897906 CA1826304 |
160 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA1826303 rs760390400 |
162 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371218240 CA1826302 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368911337 CA1826301 |
164 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199690667 CA1826300 |
166 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1573590808 CA348067848 |
166 | T>P | No |
ClinGen Ensembl |
|
|
rs774411951 CA1826299 |
167 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826298 rs768758223 |
168 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1826297 rs371324848 |
169 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348067759 rs1205783685 |
170 | S>F | No |
ClinGen TOPMed |
|
|
rs376756696 CA1826296 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780288687 COSM1590462 CA1826295 COSM1005333 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA53499010 rs925039865 |
172 | I>M | No |
ClinGen TOPMed |
|
|
CA1826294 rs746096708 |
173 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826292 rs757616182 |
174 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826293 rs757616182 |
174 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53499001 rs936407812 |
175 | C>R | No |
ClinGen Ensembl |
|
|
rs1258610046 CA348067674 |
175 | C>S | No |
ClinGen gnomAD |
|
|
rs375470343 CA1826291 |
176 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200382879 CA1826289 |
178 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377499673 CA1826288 |
178 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348067598 rs1313722630 |
179 | I>T | No |
ClinGen gnomAD |
|
|
CA1826287 rs185846561 |
179 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368933601 CA1826286 |
180 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1826285 rs377574367 |
181 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348067557 rs1380835284 |
182 | T>A | No |
ClinGen gnomAD |
|
|
COSM1005332 rs761673341 COSM1153473 CA1826283 |
183 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1299268542 CA348067501 |
184 | H>R | No |
ClinGen gnomAD |
|
|
rs1422074833 CA348067488 |
185 | S>A | No |
ClinGen gnomAD |
|
|
CA1826282 rs774321778 |
185 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA348067493 rs1422074833 |
185 | S>T | No |
ClinGen gnomAD |
|
|
COSM3797835 CA348067475 rs1558788905 COSM3797834 |
186 | L>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1473196062 CA348067456 |
187 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA53498945 rs775354135 |
189 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3829701 VAR_051936 CA1826276 |
189 | L>P | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA1826277 rs775354135 |
189 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826272 rs540248161 |
190 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776879717 CA1826275 |
190 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs776879717 CA1826274 |
190 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1826273 rs540248161 |
190 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348067375 rs1342863949 |
191 | L>F | No |
ClinGen gnomAD |
|
|
rs778123198 CA1826270 |
194 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826269 rs772502792 |
195 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1826268 rs369971346 |
196 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 197 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348067206 rs1452330795 |
199 | S>G | No |
ClinGen TOPMed |
|
|
CA348067160 rs749945195 |
200 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826266 rs749945195 |
200 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749945195 CA1826265 |
200 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220007053 CA348072608 |
201 | V>I | No |
ClinGen gnomAD |
|
|
rs772413149 CA1826246 |
203 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA348072541 rs1558765153 |
204 | I>M | No |
ClinGen Ensembl |
|
|
rs748510504 CA1826245 |
206 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs780674616 CA1826244 |
207 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53512493 rs896311797 |
209 | K>E | No |
ClinGen gnomAD |
|
|
CA348072465 rs896311797 |
209 | K>Q | No |
ClinGen gnomAD |
|
|
CA1826243 rs769078613 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348072409 rs1173027896 |
211 | D>G | No |
ClinGen gnomAD |
|
|
CA1826242 rs756418889 |
212 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826240 rs756892026 |
213 | V>A | No |
ClinGen ExAC |
|
|
rs751241879 CA1826239 |
214 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751241879 CA348072349 |
214 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348072336 rs1457860720 |
215 | K>E | No |
ClinGen gnomAD |
|
|
rs758232657 CA1826237 |
217 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758232657 CA348072298 |
217 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1826236 rs368742282 |
218 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1365397495 CA348072244 |
219 | Q>* | No |
ClinGen TOPMed |
|
|
CA348072239 rs1437746212 |
219 | Q>R | No |
ClinGen TOPMed |
|
|
CA348072161 rs1558764606 |
222 | K>E | No |
ClinGen Ensembl |
|
|
rs759404095 CA1826234 |
225 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931268306 CA53512467 |
227 | S>R | No |
ClinGen Ensembl |
|
|
CA348072012 rs758005172 |
230 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758005172 CA53512460 |
230 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753887223 COSM3708809 CA1826233 COSM3708810 |
232 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1333531313 CA348071945 |
233 | G>S | No |
ClinGen gnomAD |
|
|
rs760804797 CA1826231 |
234 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53512442 rs752368017 |
235 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1240294962 CA348071884 |
235 | Q>H | No |
ClinGen TOPMed |
|
|
rs773401547 CA1826230 |
236 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs375711131 CA1826229 |
236 | I>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1826228 rs764696551 |
237 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs202212880 CA1826225 |
238 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1826227 rs774603502 |
238 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1826226 rs769153510 |
238 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53512411 rs769153510 |
238 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370927798 CA1826224 |
239 | F>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770538926 CA1826223 |
239 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1826222 rs572040032 |
241 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1826221 rs777524713 |
241 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348071786 rs572040032 |
241 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348071748 rs1384956716 |
243 | D>E | No |
ClinGen TOPMed |
|
|
CA348071760 rs1284451013 |
243 | D>N | No |
ClinGen gnomAD |
|
|
CA53512378 rs925501417 |
244 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs896230011 CA53512370 |
245 | T>N | No |
ClinGen TOPMed |
|
|
CA1826217 rs754870576 |
246 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778575721 CA1826218 |
246 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348071661 COSM1664096 COSM1664097 rs1378680315 |
247 | A>G | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1285054935 CA348071657 |
248 | K>E | No |
ClinGen gnomAD |
|
|
rs1346718906 CA348071625 |
249 | V>D | No |
ClinGen gnomAD |
|
|
CA1826216 rs377591042 |
250 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750537247 CA1826213 |
251 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1826214 rs201521865 |
251 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1243276268 CA348071554 |
253 | M>V | No |
ClinGen TOPMed |
|
|
CA348071526 rs1362454240 |
254 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 255 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348070806 rs1407840783 |
256 | Q>* | No |
ClinGen gnomAD |
|
|
rs1007214829 CA53511204 |
256 | Q>R | No |
ClinGen Ensembl |
|
|
CA1826193 rs767502369 |
258 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376369966 CA1826192 |
258 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199570779 CA1826190 |
259 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763185491 CA1826189 |
259 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223954228 CA348070650 |
260 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1826186 rs536588521 |
262 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536588521 CA348070609 |
262 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA53511183 rs1011377843 |
262 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760123201 CA1826185 |
264 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA348070562 rs1305195434 |
264 | S>N | No |
ClinGen TOPMed |
|
|
CA348070526 rs1227388973 |
265 | M>T | No |
ClinGen TOPMed |
|
|
rs777344796 CA1826183 |
265 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1386150958 CA348070496 |
267 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348070480 rs1368286211 |
268 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1826180 rs201356578 |
271 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1826179 rs768387357 |
272 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1466429895 CA348070403 |
272 | N>K | No |
ClinGen gnomAD |
|
|
rs192464207 CA1826176 CA1826177 |
273 | K>N | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs938030882 CA53511158 |
273 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA53511115 rs932204365 |
274 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1174472877 CA348070383 |
274 | M>T | No |
ClinGen gnomAD |
|
|
CA53511127 rs369310997 |
274 | M>V | No |
ClinGen ESP |
|
|
CA1826175 rs200735743 |
275 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299138734 CA348070365 |
275 | V>F | No |
ClinGen gnomAD |
|
|
rs200735743 CA1826174 |
275 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348070350 rs1192973620 |
276 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456523227 CA348070343 |
277 | A>P | No |
ClinGen gnomAD |
|
|
rs1456523227 CA348070342 |
277 | A>T | No |
ClinGen gnomAD |
|
|
rs368621147 CA1826172 |
278 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1225226 rs377202328 CA1826171 COSM1225225 |
278 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA348070312 rs1163301987 |
279 | Q>E | No |
ClinGen TOPMed |
|
|
CA348070297 CA53511037 rs1046944748 |
279 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA348070292 rs1232342417 |
280 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs929419681 CA53511036 |
280 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA348070286 rs1174032347 |
281 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757248499 CA1826170 |
281 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751689147 CA1826169 |
282 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs777805950 CA1826168 |
283 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826167 COSM4128101 rs758706146 COSM4128100 |
283 | G>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753042647 CA348070236 |
284 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753042647 CA1826166 |
284 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53510998 rs907560008 |
285 | V>I | No |
ClinGen TOPMed |
|
|
rs753730583 CA53510980 |
286 | Q>R | No |
ClinGen Ensembl |
|
|
rs755363748 CA1826144 |
287 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53510975 rs983308452 |
287 | V>L | No |
ClinGen TOPMed |
|
|
rs866192664 CA53510295 |
288 | E>G | No |
ClinGen Ensembl |
|
|
CA1826143 rs754262185 |
288 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766748820 CA1826142 |
289 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs145093729 CA53510294 |
289 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1826141 rs761261255 |
290 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1353688265 CA348069871 |
291 | N>S | No |
ClinGen gnomAD |
|
|
rs1412789952 CA348069858 CA348069856 |
292 | H>Q | No |
ClinGen TOPMed |
|
|
rs1264431165 CA348069865 |
292 | H>Y | No |
ClinGen gnomAD |
|
|
CA1826140 rs750969804 |
293 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA348069850 rs1312183496 |
293 | C>G | No |
ClinGen TOPMed |
|
|
CA1826137 rs373740710 |
294 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367925645 CA1826138 |
294 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759200038 CA53510257 |
296 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759200038 CA1826136 CA1826135 |
296 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1348752188 CA348069797 |
297 | K>N | No |
ClinGen TOPMed |
|
|
rs1402481206 CA348069790 |
298 | L>P | No |
ClinGen gnomAD |
|
|
rs370353470 CA1826133 |
299 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776495707 CA1826134 |
299 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558750307 CA348069713 |
303 | I>F | No |
ClinGen Ensembl |
|
|
rs773081171 CA1826131 |
304 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1826130 rs772255876 |
305 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779236901 CA1826128 |
306 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs376499571 CA1826129 |
306 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA53510212 rs373404656 |
307 | M>I | No |
ClinGen ESP gnomAD |
|
|
rs755275798 CA348069649 |
307 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348069640 rs1023178029 |
307 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA53510213 rs1023178029 |
307 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755275798 CA1826127 |
307 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826126 rs749559709 |
310 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826124 rs370905521 |
311 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376222124 CA1826123 |
311 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376222124 CA1826122 |
311 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1826121 rs757859956 |
313 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1573505325 CA348069541 |
314 | T>I | No |
ClinGen Ensembl |
|
|
CA1826120 rs557989965 |
315 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1433518341 CA348069503 |
317 | R>G | No |
ClinGen gnomAD |
|
|
rs764809526 CA1826119 |
317 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1826118 rs759228175 |
318 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs776211168 CA1826117 |
318 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA53510160 rs373559304 |
319 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348069470 rs1329599321 |
319 | Y>N | No |
ClinGen gnomAD |
|
|
CA53510156 rs985327771 |
323 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766181304 CA1826116 |
324 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs187032403 CA1826114 |
324 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187032403 CA1826115 |
324 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772167903 CA1826113 |
325 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA53510141 rs1029419771 |
327 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs892839195 CA53510134 |
330 | M>V | No |
ClinGen TOPMed |
|
|
rs748191814 CA1826111 |
331 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53510133 rs778059972 |
331 | G>S | No |
ClinGen Ensembl |
|
|
CA53510132 rs748191814 |
331 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376067010 CA53510127 |
332 | F>I | No |
ClinGen ESP |
|
|
CA348069252 rs1457550490 |
333 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1274134608 CA348069243 |
333 | T>I | No |
ClinGen gnomAD |
|
|
CA1826109 rs768935896 |
335 | V>G | No |
ClinGen ExAC |
|
|
rs774587897 CA1826110 |
335 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs780202127 CA348069202 |
336 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780202127 CA1826107 |
336 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1826108 rs749524614 |
336 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826106 rs756483785 |
337 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1826104 rs781625246 |
338 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757772072 CA1826103 |
339 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1826101 rs368794598 |
341 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1232520331 CA348069110 |
343 | S>G | No |
ClinGen TOPMed |
|
|
CA348069105 rs1280092087 |
343 | S>N | No |
ClinGen TOPMed |
|
|
rs1232520331 CA348069109 |
343 | S>R | No |
ClinGen TOPMed |
|
|
CA348067181 rs1215918833 |
345 | Q>* | No |
ClinGen gnomAD |
|
|
CA348067179 rs1317623285 |
345 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 346 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826080 rs778299279 |
348 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348067122 rs1481731187 |
348 | Y>H | No |
ClinGen TOPMed |
|
|
CA53504913 rs368171273 |
349 | E>* | No |
ClinGen ESP |
|
|
rs1355982255 CA348067096 |
350 | A>T | No |
ClinGen gnomAD |
|
|
rs754478852 CA1826078 |
351 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348067074 rs1416433055 |
352 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826077 rs529745588 |
352 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374649083 CA1826074 |
353 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1826073 rs780587213 |
353 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374649083 CA1826075 |
353 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348067028 rs1162158847 |
354 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761761056 CA1826072 |
356 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1826071 rs542585892 |
357 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1826070 rs542585892 |
357 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM714787 CA1826067 COSM1148278 rs370265320 |
359 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1826068 rs370265320 |
359 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261600777 CA348066914 |
361 | R>G | No |
ClinGen gnomAD |
|
|
rs756469749 CA53504882 |
363 | E>D | No |
ClinGen Ensembl |
|
|
rs1573413922 CA348066881 |
363 | E>K | No |
ClinGen Ensembl |
|
|
rs1228378333 CA348066865 |
364 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 365 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826065 rs759747997 |
365 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA348066812 rs1243905449 |
366 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348066775 rs1219551309 |
368 | Q>* | No |
ClinGen gnomAD |
|
|
CA348066750 rs1426265176 |
368 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348066714 rs1274094142 |
370 | F>C | No |
ClinGen gnomAD |
|
|
CA1826063 rs367725750 |
371 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553535786 CA53504870 |
371 | V>M | No |
ClinGen 1000Genomes |
|
|
CA1826062 rs771261282 |
373 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348066661 rs1277421601 |
373 | R>Q | No |
ClinGen gnomAD |
|
|
CA1826061 rs747413593 |
374 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs995165591 CA53504850 |
374 | V>I | No |
ClinGen Ensembl |
|
|
rs1558709332 CA348066620 |
375 | K>N | No |
ClinGen Ensembl |
|
| rs755586943 | 375 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1826058 rs772478817 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748774969 CA1826057 |
379 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53504813 rs750820118 |
380 | I>L | No |
ClinGen Ensembl |
|
|
CA348066527 rs1558709081 |
381 | L>F | No |
ClinGen Ensembl |
|
|
CA1826055 rs755718548 |
383 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750089002 CA1826054 |
385 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs758268447 CA1826028 |
388 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs752552834 CA1826027 |
388 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209347474 CA348065500 |
389 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348065502 rs1209347474 |
389 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1348572270 CA348065484 |
391 | K>R | No |
ClinGen gnomAD |
|
|
CA53500442 rs1046644326 |
392 | F>S | No |
ClinGen TOPMed |
|
|
CA348065455 rs1237372604 |
395 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1237372604 CA348065456 |
395 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1375664840 CA348065440 |
397 | R>T | No |
ClinGen gnomAD |
|
|
rs1307288737 CA348065426 |
399 | H>R | No |
ClinGen gnomAD |
|
|
rs1392260501 CA348065420 |
400 | Q>* | No |
ClinGen gnomAD |
|
|
CA348065404 rs1376002315 |
402 | E>* | No |
ClinGen gnomAD |
|
|
rs1376002315 CA348065406 |
402 | E>K | No |
ClinGen gnomAD |
|
|
rs765259112 CA1826025 |
403 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA348065363 rs1434641113 |
407 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1573350698 CA348065352 |
409 | K>E | No |
ClinGen Ensembl |
|
|
rs755009380 CA1826024 |
409 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA53500428 rs933211433 |
411 | R>G | No |
ClinGen TOPMed |
|
|
rs146905811 CA1826023 |
411 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348065324 rs1417966575 |
413 | L>S | No |
ClinGen gnomAD |
|
|
CA348065326 rs1417966575 |
413 | L>W | No |
ClinGen gnomAD |
|
|
CA53500409 rs922636416 |
419 | A>T | No |
ClinGen Ensembl |
|
|
rs370571392 CA53500404 |
420 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1826022 rs766531545 |
421 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs760892761 CA1826021 |
422 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348065236 rs1187039685 |
426 | T>A | No |
ClinGen gnomAD |
|
|
CA348065237 rs1187039685 |
426 | T>P | No |
ClinGen gnomAD |
|
|
rs767767642 CA1826019 |
428 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826018 rs762276430 |
430 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1260888798 CA348065187 |
431 | H>P | No |
ClinGen gnomAD |
|
|
rs774695494 CA1826017 |
434 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1319620105 CA348065128 |
436 | L>M | No |
ClinGen gnomAD |
|
|
CA1826016 rs769305807 |
436 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348065115 rs1356603798 |
437 | A>E | No |
ClinGen gnomAD |
|
|
rs1414601642 CA348065121 |
437 | A>T | No |
ClinGen gnomAD |
|
|
rs373330436 CA1826015 |
438 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384369265 COSM1225228 COSM1225227 CA348065094 |
439 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 441 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573349288 CA348065058 |
443 | R>K | No |
ClinGen Ensembl |
|
|
rs1169789100 CA348065039 |
445 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 446 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263144221 CA348065021 |
446 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770626851 CA1826012 |
448 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1826009 rs369053227 |
448 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1826010 rs369053227 |
448 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1826011 rs369053227 |
448 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | N>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188681875 CA348064463 |
452 | N>D | No |
ClinGen TOPMed |
|
|
CA1825971 rs763454743 |
452 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442336421 CA348064447 |
453 | F>V | No |
ClinGen TOPMed |
No associated diseases with Q9P0V9
1 regional properties for Q9P0V9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Septin-type guanine nucleotide-binding (G) domain | 63 - 331 | IPR030379 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell division site | The eventual plane of cell division (also known as cell cleavage or cytokinesis) in a dividing cell. In Eukaryotes, the cleavage apparatus, composed of septin structures and the actomyosin contractile ring, forms along this plane, and the mitotic, or meiotic, spindle is aligned perpendicular to the division plane. In bacteria, the cell division site is generally located at mid-cell and is the site at which the cytoskeletal structure, the Z-ring, assembles. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| septin complex | A protein complex containing septins. Typically, these complexes contain multiple septins and are oligomeric. |
| septin ring | A tight ring-shaped structure that forms in the division plane at the site of cytokinesis; composed of members of the conserved family of filament-forming proteins called septins as well as septin-associated proteins. This type of septin structure is observed at the bud neck of budding fungal cells, at the site of cell division in animal cells, at the junction between the mother cell and a pseudohyphal projection, and also within hyphae of filamentous fungi at sites where a septum will form. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton-dependent cytokinesis | A cytokinesis that involves the function of a set of proteins that are part of the microfilament or microtubule cytoskeleton. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32468 | CDC12 | Cell division control protein 12 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q07657 | SHS1 | Seventh homolog of septin 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32457 | CDC3 | Cell division control protein 3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A2VE99 | SEPTIN11 | Septin-11 | Bos taurus (Bovine) | PR |
| A6QQL3 | SEPTIN14 | Septin-14 | Bos taurus (Bovine) | PR |
| Q3SZN0 | SEPTIN6 | Septin-6 | Bos taurus (Bovine) | PR |
| P54359 | 02-Sep | Septin-2 | Drosophila melanogaster (Fruit fly) | PR |
| Q16181 | SEPTIN7 | Septin-7 | Homo sapiens (Human) | PR |
| Q14141 | SEPTIN6 | Septin-6 | Homo sapiens (Human) | PR |
| Q9NVA2 | SEPTIN11 | Septin-11 | Homo sapiens (Human) | PR |
| Q9UH03 | SEPTIN3 | Neuronal-specific septin-3 | Homo sapiens (Human) | PR |
| Q9UHD8 | SEPTIN9 | Septin-9 | Homo sapiens (Human) | PR |
| Q8C1B7 | Septin11 | Septin-11 | Mus musculus (Mouse) | PR |
| Q8CHH9 | Septin8 | Septin-8 | Mus musculus (Mouse) | PR |
| Q9DA97 | Septin14 | Septin-14 | Mus musculus (Mouse) | PR |
| Q9R1T4 | Septin6 | Septin-6 | Mus musculus (Mouse) | PR |
| B0BNF1 | Septin8 | Septin-8 | Rattus norvegicus (Rat) | PR |
| B3GNI6 | Septin11 | Septin-11 | Rattus norvegicus (Rat) | PR |
| A4FUM1 | sept8b | Septin-8-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q642H3 | sept8a | Septin-8-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASSEVARHL | LFQSHMATKT | TCMSSQGSDD | EQIKRENIRS | LTMSGHVGFE | SLPDQLVNRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IQQGFCFNIL | CVGETGIGKS | TLIDTLFNTN | FEDYESSHFC | PNVKLKAQTY | ELQESNVQLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTIVNTVGFG | DQINKEESYQ | PIVDYIDAQF | EAYLQEELKI | KRSLFTYHDS | RIHVCLYFIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PTGHSLKTLD | LLTMKNLDSK | VNIIPVIAKA | DTVSKTELQK | FKIKLMSELV | SNGVQIYQFP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TDDDTIAKVN | AAMNGQLPFA | VVGSMDEVKV | GNKMVKARQY | PWGVVQVENE | NHCDFVKLRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MLICTNMEDL | REQTHTRHYE | LYRRCKLEEM | GFTDVGPENK | PVSVQETYEA | KRHEFHGERQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RKEEEMKQMF | VQRVKEKEAI | LKEAERELQA | KFEHLKRLHQ | EERMKLEEKR | RLLEEEIIAF |
| 430 | 440 | 450 | |||
| SKKKATSEIF | HSQSFLATGS | NLRKDKDRKN | SNFL |