Q14CX7
PR
Gene name |
NAA25 (C12orf30, MDM20, NAP1) |
Protein name |
N-alpha-acetyltransferase 25, NatB auxiliary subunit |
Names |
Mitochondrial distribution and morphology protein 20, N-terminal acetyltransferase B complex subunit MDM20, NatB complex subunit MDM20, N-terminal acetyltransferase B complex subunit NAA25, p120 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80018 |
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
4 structures for Q14CX7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6VP9 | EM | 346 A | B | 1-972 | PDB |
| 7STX | EM | 314 A | B | 45-972 | PDB |
| 8G0L | EM | 339 A | B | 1-972 | PDB |
| AF-Q14CX7-F1 | Predicted | AlphaFoldDB |
515 variants for Q14CX7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs771562906 CA6794972 |
3 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs983366629 CA243681872 |
4 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386753946 rs983366629 |
4 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA386753939 rs1235018768 |
5 | G>S | No |
ClinGen TOPMed |
|
|
rs749731093 CA6794971 |
5 | G>V | No |
ClinGen ExAC |
|
|
CA386753922 rs1448900699 |
6 | H>P | No |
ClinGen gnomAD |
|
|
rs1458490987 CA386753925 |
6 | H>Y | No |
ClinGen TOPMed |
|
|
rs1376218503 CA386753904 |
7 | V>A | No |
ClinGen gnomAD |
|
|
CA386753880 rs778181292 |
9 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs778181292 CA6794970 |
9 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350777616 CA386753862 |
10 | P>R | No |
ClinGen gnomAD |
|
|
CA386753865 rs1446614842 |
10 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426238034 CA386753846 |
11 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs551464443 CA6794968 |
11 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386753781 rs1252598939 |
17 | P>A | No |
ClinGen gnomAD |
|
|
rs1252598939 CA386753780 |
17 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199786671 CA243670787 |
24 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1283367740 CA386752129 |
25 | G>S | No |
ClinGen gnomAD |
|
|
rs1318180691 CA386752064 |
31 | I>V | No |
ClinGen TOPMed |
|
|
CA386752018 rs1241593361 |
35 | D>V | No |
ClinGen TOPMed |
|
|
CA386751948 rs1406777285 |
41 | H>R | No |
ClinGen gnomAD |
|
|
CA386751926 rs1178442899 |
43 | D>Y | No |
ClinGen gnomAD |
|
|
CA386751902 rs1225219972 |
45 | H>P | No |
ClinGen TOPMed |
|
|
rs758039726 CA6794948 |
45 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA243668789 rs988419478 |
49 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 53 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382540121 CA386751349 |
53 | I>V | No |
ClinGen gnomAD |
|
|
rs1445315429 CA386751339 |
54 | G>S | No |
ClinGen gnomAD |
|
|
rs1352723404 CA386751297 COSM935156 |
58 | T>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 59 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386751265 rs1214110547 |
61 | Q>R | No |
ClinGen TOPMed |
|
|
CA6794932 rs776843858 |
63 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771759640 CA6794931 |
64 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA386751226 rs771759640 |
64 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1593827801 CA386751193 |
68 | A>S | No |
ClinGen Ensembl |
|
|
rs1249277044 CA386751185 |
69 | Q>R | No |
ClinGen gnomAD |
|
|
CA386751164 rs1383066574 |
71 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794928 rs770449703 |
74 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746012353 CA6794927 |
74 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755993459 CA6794925 |
77 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794924 rs752588206 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA243668673 rs987521896 |
81 | S>L | No |
ClinGen Ensembl |
|
|
CA6794923 rs781106765 |
81 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409040249 CA386751054 |
82 | L>M | No |
ClinGen TOPMed |
|
|
CA386751052 rs1409040249 |
82 | L>V | No |
ClinGen TOPMed |
|
|
rs1387288188 CA386751016 |
86 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | I>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549465601 CA6794922 |
87 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6794920 rs766655776 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233987959 CA386750972 |
90 | R>W | No |
ClinGen gnomAD |
|
|
CA386750952 rs1250336431 |
91 | E>D | No |
ClinGen gnomAD |
|
|
COSM201155 CA6794918 rs750461893 |
94 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs765828147 CA6794917 COSM935154 |
94 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 95 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270628410 CA386750812 |
95 | P>Q | No |
ClinGen gnomAD |
|
|
rs778693597 CA243668619 |
95 | P>S | No |
ClinGen TOPMed |
|
|
rs758538336 CA6794902 |
96 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs375469402 CA6794901 |
99 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6794900 rs765201765 |
100 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386750658 rs1348502060 |
109 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187133069 CA243666569 |
110 | P>T | No |
ClinGen 1000Genomes |
|
|
CA386750646 rs1256468386 |
111 | N>D | No |
ClinGen gnomAD |
|
|
rs142411607 CA6794898 |
111 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6794896 rs761094966 |
112 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA386750608 rs1380019175 |
114 | E>K | No |
ClinGen TOPMed |
|
|
CA386750561 rs1398994768 |
118 | H>D | No |
ClinGen gnomAD |
|
|
rs1593822746 CA386750518 |
122 | A>T | No |
ClinGen Ensembl |
|
|
rs772878319 CA6794892 |
123 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA386750467 rs1434580542 |
127 | G>C | No |
ClinGen TOPMed |
|
|
CA386750456 rs1295686892 |
128 | E>A | No |
ClinGen TOPMed |
|
|
CA243696023 rs140115954 |
138 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6794874 rs140115954 |
138 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386772435 rs1473406403 |
138 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370583465 CA6794870 |
146 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209204746 CA386772236 |
153 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593811579 CA386772186 |
157 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 159 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292720922 CA386771332 |
161 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1429805231 CA386771317 |
162 | S>L | No |
ClinGen TOPMed |
|
|
CA386771304 rs1195135230 |
163 | A>V | No |
ClinGen gnomAD |
|
|
CA386771296 rs1357296032 |
164 | Q>R | No |
ClinGen gnomAD |
|
|
rs376761310 CA6794849 |
166 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775303285 CA6794848 |
170 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771979388 CA6794847 |
171 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6794846 rs373778663 |
171 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243694845 rs771181329 |
175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771181329 CA6794844 |
175 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1051311652 CA243694841 |
179 | R>K | No |
ClinGen gnomAD |
|
|
CA386771072 rs777920335 |
182 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777920335 CA6794842 |
182 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932403815 CA243694827 |
185 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 187 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243694822 rs897889392 |
188 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1593807656 CA386770946 |
190 | I>M | No |
ClinGen Ensembl |
|
|
rs1346587221 CA386770958 |
190 | I>V | No |
ClinGen TOPMed |
|
|
CA6794841 rs769873050 |
191 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1224115030 CA386770754 |
201 | M>T | No |
ClinGen TOPMed |
|
|
CA6794826 rs760268147 |
204 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752248545 CA6794825 |
205 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247296910 CA386770695 |
206 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386770561 rs1324887856 |
216 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1213846556 CA386770518 |
219 | K>R | No |
ClinGen TOPMed |
|
|
CA6794800 rs777635344 |
222 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs752188753 CA6794798 |
225 | T>S | No |
ClinGen ExAC |
|
|
rs1202191831 CA386770210 |
226 | S>N | No |
ClinGen gnomAD |
|
|
rs910766317 CA243693503 |
227 | E>V | No |
ClinGen Ensembl |
|
|
rs976683604 CA243693498 |
231 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6794796 rs754395341 |
238 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386769941 rs1464143198 |
243 | S>R | No |
ClinGen TOPMed |
|
|
CA386769906 rs1397478682 |
248 | C>Y | No |
ClinGen TOPMed |
|
|
CA6794794 rs766234998 |
253 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968159653 CA243693476 |
253 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772974081 CA6794792 |
254 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs372608019 CA243693464 COSM935150 |
254 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs372608019 CA243693459 |
254 | R>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 256 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386769864 rs1401153393 |
256 | L>I | No |
ClinGen gnomAD |
|
|
CA6794791 rs765495968 |
256 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6794790 rs776679746 |
257 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768806259 CA6794788 |
258 | K>E | No |
ClinGen ExAC |
|
|
CA386769851 rs1168067895 |
258 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765051881 CA6794773 |
260 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243692932 rs372750474 |
260 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386769600 rs761468380 |
262 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6794772 rs761468380 |
262 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386769569 rs1291482074 |
264 | Q>H | No |
ClinGen gnomAD |
|
|
CA386769572 rs1490406946 |
264 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386769522 rs1566020521 |
268 | T>I | No |
ClinGen Ensembl |
|
|
CA6794768 rs775699946 |
270 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969404945 CA243692904 |
273 | V>A | No |
ClinGen Ensembl |
|
|
CA386769447 rs1287477535 |
275 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6794767 rs150077724 |
275 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 276 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386769433 rs1367651183 |
277 | I>V | No |
ClinGen gnomAD |
|
|
CA386769394 rs1321724903 |
280 | A>S | No |
ClinGen gnomAD |
|
|
rs1188711958 CA386769373 |
282 | S>G | No |
ClinGen TOPMed |
|
|
CA6794765 rs774947604 |
286 | E>K | No |
ClinGen ExAC |
|
|
rs996702611 CA243692874 |
287 | G>C | No |
ClinGen TOPMed gnomAD |
|
| rs745904144 | 292 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 293 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386769093 rs1430225811 |
297 | Y>H | No |
ClinGen TOPMed |
|
|
rs1189905468 CA386769056 |
300 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759629918 CA6794746 |
304 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6794745 rs775002473 |
306 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157348989 CA386769004 |
307 | E>G | No |
ClinGen TOPMed |
|
|
CA6794744 rs374375519 |
309 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386768987 rs1223574863 |
310 | I>V | No |
ClinGen gnomAD |
|
|
CA6794743 rs763430931 |
311 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283772376 CA386768968 |
313 | E>K | No |
ClinGen gnomAD |
|
|
CA6794741 rs568546326 |
315 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746698842 CA6794740 |
316 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779637829 CA6794739 |
318 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs779637829 CA386768933 |
318 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM201152 CA6794738 rs771586165 |
318 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386768931 rs771586165 |
318 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386768899 rs1327956411 |
324 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 329 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794733 rs376379432 |
331 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243691252 rs919520709 |
333 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA243691246 rs972618736 |
333 | R>H | No |
ClinGen TOPMed |
|
|
rs1184064192 CA386768827 |
335 | R>* | No |
ClinGen gnomAD |
|
|
rs752979488 CA6794731 |
335 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6794729 rs759753817 |
338 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs963593627 CA243691234 |
338 | G>S | No |
ClinGen TOPMed |
|
|
CA6794728 rs751673892 |
339 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032141379 CA243691221 |
340 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1341481403 CA386768788 |
341 | D>G | No |
ClinGen gnomAD |
|
|
rs763333514 CA6794726 |
341 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763333514 CA6794727 |
341 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6794725 rs773732293 |
342 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243689536 rs1005068636 |
352 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386768686 rs1566016772 |
353 | F>L | No |
ClinGen Ensembl |
|
|
CA6794699 rs149344901 |
357 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386768654 rs1179715467 |
358 | K>Q | No |
ClinGen gnomAD |
|
|
rs774005129 CA6794697 |
361 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243689517 rs200806998 |
363 | P>A | No |
ClinGen TOPMed |
|
|
rs770360259 CA6794696 |
363 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs200806998 CA386768617 |
363 | P>T | No |
ClinGen TOPMed |
|
|
CA386768574 rs1289355221 |
369 | L>V | No |
ClinGen TOPMed |
|
|
rs769838669 CA6794693 |
373 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794692 rs769838669 |
373 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035579109 CA243689499 |
380 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748001761 CA6794691 |
381 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386768486 rs1566016691 |
382 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 384 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794674 rs761871272 |
387 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 390 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243683934 rs374444296 |
391 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs1462155612 CA386767552 |
392 | V>I | No |
ClinGen gnomAD |
|
|
CA386767514 rs1313078569 |
398 | T>A | No |
ClinGen Ensembl |
|
|
CA386767479 rs1482085842 |
403 | A>P | No |
ClinGen gnomAD |
|
|
rs371162324 CA6794670 |
412 | Q>* | No |
ClinGen ESP ExAC |
|
|
CA386767401 rs780212120 |
415 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA386767380 rs1566012062 |
418 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794667 rs745984153 |
424 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs16941860 VAR_054099 CA243683860 |
426 | L>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1294751631 CA386767312 |
428 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs553318952 CA243683854 |
429 | T>I | No |
ClinGen 1000Genomes |
|
|
rs778932809 CA6794666 |
431 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6794665 rs757289651 |
432 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386767248 rs113256936 |
437 | S>C | No |
ClinGen TOPMed |
|
|
CA243683837 rs113256936 |
437 | S>G | No |
ClinGen TOPMed |
|
|
rs1489852343 CA386767247 |
437 | S>N | No |
ClinGen TOPMed |
|
|
CA386767231 rs1220328608 |
439 | V>G | No |
ClinGen TOPMed |
|
|
rs1452330724 CA386767155 |
450 | L>V | No |
ClinGen TOPMed |
|
|
CA386767134 rs1431716099 |
453 | G>R | No |
ClinGen gnomAD |
|
|
rs776717042 CA6794653 |
456 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386767035 rs1271754935 |
460 | E>A | No |
ClinGen TOPMed |
|
|
rs995704671 CA243683369 |
465 | D>Y | No |
ClinGen TOPMed |
|
|
CA6794650 rs775335025 COSM1216572 |
466 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775335025 CA6794651 |
466 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA386766923 rs1249101436 |
468 | C>Y | No |
ClinGen gnomAD |
|
|
rs772224167 CA6794649 |
469 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs150580297 CA6794648 |
474 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA386766826 rs1268586047 |
476 | I>T | No |
ClinGen gnomAD |
|
|
rs1334060670 CA386766831 |
476 | I>V | No |
ClinGen gnomAD |
|
|
CA6794645 rs749362873 |
478 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386766737 rs1327387059 |
482 | T>R | No |
ClinGen gnomAD |
|
|
CA6794625 rs769717364 |
483 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA386765325 rs1232558434 |
485 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386765306 rs1366598625 |
488 | V>M | No |
ClinGen gnomAD |
|
|
rs1388434906 CA386765280 |
491 | A>G | No |
ClinGen gnomAD |
|
|
rs755378407 CA386765216 |
501 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs755378407 CA6794621 |
501 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781490838 CA6794622 |
501 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386765098 rs1394713698 |
503 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 504 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794620 rs546448918 |
505 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1330144208 CA386765059 |
506 | A>D | No |
ClinGen TOPMed |
|
|
rs778770605 CA6794619 |
508 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6794618 rs756951514 |
513 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763690715 CA6794616 |
516 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs755531654 CA6794615 |
520 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767350819 CA6794613 |
525 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6794612 rs759382309 |
526 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386764780 rs1593771699 |
527 | D>N | No |
ClinGen Ensembl |
|
|
CA243674978 rs774110297 |
530 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794611 rs774110297 |
530 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386764753 rs1361828552 |
531 | S>G | No |
ClinGen gnomAD |
|
|
rs770322637 CA243674971 |
532 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 533 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766627751 CA6794610 |
533 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386764698 rs1341124814 |
538 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 540 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247353963 CA386764599 |
548 | R>* | No |
ClinGen gnomAD |
|
|
rs966188881 CA243674405 |
555 | Q>H | No |
ClinGen Ensembl |
|
|
rs1273004236 CA386764503 |
558 | A>T | No |
ClinGen gnomAD |
|
|
CA386764450 rs1241133698 |
563 | C>G | No |
ClinGen TOPMed |
|
|
rs568812422 CA6794595 |
563 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568812422 CA6794596 |
563 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386764413 rs1389190723 |
566 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1389190723 CA386764417 |
566 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386764380 rs1293596152 |
569 | F>C | No |
ClinGen gnomAD |
|
|
CA6794593 rs754879253 |
569 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1566006956 | 571 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243674370 rs865780482 |
571 | H>Y | No |
ClinGen Ensembl |
|
|
rs1438568701 CA386764334 |
573 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1438568701 CA386764335 |
573 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs370661609 CA6794591 |
574 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757284030 CA6794590 |
576 | D>E | No |
ClinGen ExAC |
|
|
rs769307554 CA6794579 |
577 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs146981092 CA6794578 |
581 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780711833 CA6794577 |
586 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6794575 rs141275124 |
587 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386763127 rs1452584010 |
594 | P>S | No |
ClinGen gnomAD |
|
|
rs750173738 CA6794572 |
596 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386763107 rs1593763203 |
597 | I>V | No |
ClinGen Ensembl |
|
|
rs1451873916 CA386763101 |
598 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386763096 rs1351761586 |
598 | A>V | No |
ClinGen gnomAD |
|
|
CA386763056 rs1485351456 |
604 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6794569 rs754055655 |
605 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1211637849 CA386763014 |
610 | A>V | No |
ClinGen gnomAD |
|
|
rs760779525 CA6794567 |
613 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794566 rs776147529 |
613 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386762991 rs1367241936 |
614 | T>A | No |
ClinGen gnomAD |
|
|
rs759992055 CA6794564 |
616 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1440914818 CA386762978 |
616 | R>W | No |
ClinGen gnomAD |
|
|
rs1411486951 CA386762965 |
618 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 623 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376403967 CA6794563 |
623 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376403967 CA6794562 |
623 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794561 rs747774014 |
625 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386762918 rs1374995433 |
626 | N>D | No |
ClinGen gnomAD |
|
|
rs776329313 CA6794542 |
627 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6794560 rs149023600 |
627 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794541 rs768281975 |
628 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386762874 rs1242210892 |
631 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1247787122 CA386762853 |
634 | S>G | No |
ClinGen gnomAD |
|
|
CA386762840 rs1566003292 |
635 | I>M | No |
ClinGen Ensembl |
|
|
rs1566003300 CA386762841 |
635 | I>R | No |
ClinGen Ensembl |
|
|
rs1195226616 CA386762826 |
637 | S>L | No |
ClinGen gnomAD |
|
|
rs145877943 CA6794540 |
638 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243669749 rs992081311 |
639 | N>S | No |
ClinGen TOPMed |
|
| rs775859917 | 644 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771574827 CA6794538 |
645 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 651 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243669719 rs757007450 |
653 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757007450 CA6794534 |
653 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6794533 rs749092307 |
653 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386762697 rs1387910060 |
656 | R>G | No |
ClinGen gnomAD |
|
|
rs1393458471 CA386762689 |
657 | D>N | No |
ClinGen gnomAD |
|
|
CA6794532 rs778200522 |
663 | S>G | No |
ClinGen ExAC gnomAD |
|
| rs1324340510 | 663 | S>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794531 rs756371223 |
663 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 664 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794517 rs377649108 |
671 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386761153 rs1420391517 |
672 | S>A | No |
ClinGen gnomAD |
|
|
rs1179761489 CA386761144 |
673 | E>K | No |
ClinGen TOPMed |
|
|
CA243666212 rs141355473 |
674 | E>G | No |
ClinGen ESP |
|
|
CA386761080 rs745318640 |
675 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6794516 rs745318640 |
675 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs924993401 CA243666204 |
678 | L>H | No |
ClinGen Ensembl |
|
|
CA243666203 rs977878840 |
679 | S>P | No |
ClinGen Ensembl |
|
|
rs747707218 CA243666202 |
681 | E>A | No |
ClinGen gnomAD |
|
|
rs1382262037 CA386760924 |
682 | E>G | No |
ClinGen gnomAD |
|
|
CA6794515 rs774223073 |
687 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770890082 CA6794514 |
690 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749133227 CA6794513 |
691 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1453694326 CA386760561 |
694 | L>S | No |
ClinGen gnomAD |
|
|
rs769662277 CA6794511 |
698 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217618406 CA386760412 |
700 | L>F | No |
ClinGen gnomAD |
|
|
rs1445532247 CA386760370 |
701 | P>L | No |
ClinGen gnomAD |
|
|
rs1283748821 CA386760307 |
704 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1201124315 CA386760262 |
706 | P>A | No |
ClinGen gnomAD |
|
|
rs780387848 CA243666164 |
706 | P>H | No |
ClinGen TOPMed |
|
|
rs780387848 CA386760254 |
706 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780387848 CA386760255 |
706 | P>R | No |
ClinGen TOPMed |
|
|
rs755076956 CA6794508 |
708 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1366526872 CA386760110 |
711 | N>S | No |
ClinGen gnomAD |
|
|
rs751642260 CA6794507 |
712 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386760051 rs1402252984 |
713 | E>G | No |
ClinGen TOPMed |
|
|
CA386760032 rs1317126125 |
714 | K>E | No |
ClinGen gnomAD |
|
|
CA6794504 rs750892648 |
715 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765616451 CA6794503 |
715 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 716 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465963041 CA386759962 |
717 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 720 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199640099 CA6794502 |
720 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199640099 CA386759881 |
720 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794500 rs79907395 RCV000969363 |
723 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757690276 CA6794501 |
723 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386759793 rs1188592527 |
724 | I>T | No |
ClinGen gnomAD |
|
|
rs1486757342 CA386759773 |
725 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1566000526 CA386759785 |
725 | D>N | No |
ClinGen Ensembl |
|
|
rs1255551852 CA386759728 |
727 | L>V | No |
ClinGen gnomAD |
|
|
COSM1216574 CA6794499 rs774314377 |
728 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6794498 rs116838734 |
728 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386759704 rs774314377 |
728 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275642225 CA386759651 |
730 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386759610 rs1199669741 |
732 | Q>E | No |
ClinGen TOPMed |
|
|
rs886559798 CA243666043 |
735 | E>K | No |
ClinGen gnomAD |
|
|
rs1482598448 CA386759511 |
742 | K>E | No |
ClinGen TOPMed |
|
|
CA386759502 rs1310579125 |
743 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1201672409 CA386759496 |
744 | F>Y | No |
ClinGen TOPMed |
|
|
rs1413562668 CA386759489 |
745 | I>F | No |
ClinGen gnomAD |
|
|
CA6794495 rs773221841 |
745 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794494 rs769713005 |
748 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762482325 CA6794478 |
751 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA386759431 rs762482325 |
751 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA386759426 rs1593755262 |
752 | P>H | No |
ClinGen Ensembl |
|
|
rs773349199 CA6794477 |
752 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761746978 CA6794475 |
754 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 756 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201752756 CA6794474 |
757 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6794472 rs747279179 |
759 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA243665712 rs1049769989 |
760 | R>G | No |
ClinGen TOPMed |
|
|
CA386759376 rs1221530746 |
761 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 763 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794471 rs775517717 |
763 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772144016 COSM935137 CA6794470 |
764 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6794468 rs779457944 |
769 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386759309 rs1165889074 |
770 | S>F | No |
ClinGen TOPMed |
|
|
rs1324935615 CA386759305 |
771 | Q>R | No |
ClinGen gnomAD |
|
|
CA243665693 rs900674960 |
773 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386759280 rs1464411529 |
774 | I>M | No |
ClinGen TOPMed |
|
|
CA6794467 rs757741737 |
774 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1039655752 CA243665678 |
775 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 777 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794465 rs778220176 |
781 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6794464 rs145000175 |
781 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243665618 rs904139762 |
782 | D>A | No |
ClinGen TOPMed |
|
|
CA386759230 rs904139762 |
782 | D>G | No |
ClinGen TOPMed |
|
|
rs375144860 CA6794463 |
782 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766120559 CA6794462 |
783 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1228582658 CA386759212 |
785 | E>K | No |
ClinGen TOPMed |
|
|
CA6794461 rs377044366 |
788 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_035872 | 789 | S>R | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs749929496 CA6794460 |
790 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA386759132 rs1315794785 |
791 | L>* | No |
ClinGen TOPMed |
|
|
rs1394962763 CA386758007 |
793 | D>Y | No |
ClinGen gnomAD |
|
|
rs750611356 CA6794451 |
794 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 794 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794449 rs774386191 |
795 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794450 rs774386191 |
795 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794448 rs749811894 |
800 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747564104 CA6794446 |
800 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6794445 rs756563770 |
801 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386757873 rs1373568840 |
801 | I>T | No |
ClinGen TOPMed |
|
|
CA243664591 rs868650777 |
803 | N>T | No |
ClinGen Ensembl |
|
|
CA6794444 rs748447084 |
804 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195421673 CA386757763 |
807 | S>P | No |
ClinGen gnomAD |
|
|
CA6794443 rs779900567 |
811 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386757516 rs767770335 |
814 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200461776 CA243663480 |
814 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6794432 rs767770335 |
814 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767770335 CA386757515 |
814 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794431 rs139641115 |
817 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752666672 CA6794430 |
817 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA243663472 rs139641115 |
817 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762933878 CA6794428 |
821 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794427 rs773822407 |
822 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243663454 rs150847601 |
822 | D>Y | No |
ClinGen ESP |
|
|
CA6794426 rs770178391 |
823 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748562125 CA6794425 |
825 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386757440 rs1295285946 |
826 | V>I | No |
ClinGen gnomAD |
|
|
rs955921102 CA243663412 |
827 | K>Q | No |
ClinGen TOPMed |
|
|
CA6794424 rs781713037 |
828 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794423 rs773164731 |
829 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243663372 rs142281598 |
830 | N>D | No |
ClinGen ESP |
|
|
rs1329586940 CA386757385 |
834 | H>Y | No |
ClinGen gnomAD |
|
|
CA386757376 rs1468563456 |
835 | P>L | No |
ClinGen TOPMed |
|
|
CA6794422 rs78983078 |
836 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386757364 rs1565998674 |
837 | L>P | No |
ClinGen Ensembl |
|
|
rs1394905341 CA386757345 |
840 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1471032183 CA386757341 |
840 | N>K | No |
ClinGen TOPMed |
|
|
CA6794421 rs778642073 |
841 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1334524993 CA386757276 |
848 | I>T | No |
ClinGen gnomAD |
|
|
CA6794410 rs763141433 |
849 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA386757253 rs1268158376 |
852 | L>F | No |
ClinGen TOPMed |
|
|
CA386757242 rs1324281206 |
853 | W>C | No |
ClinGen gnomAD |
|
|
CA386757233 rs1459571126 |
855 | S>P | No |
ClinGen gnomAD |
|
|
CA6794408 rs769876315 |
856 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1593749486 CA386757224 |
856 | S>I | No |
ClinGen Ensembl |
|
|
CA6794407 rs372171594 |
857 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794406 rs144150313 |
858 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425057557 CA386757186 |
861 | V>A | No |
ClinGen gnomAD |
|
|
CA6794405 rs769148570 |
863 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747374416 CA6794404 |
864 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs532435876 CA243662646 |
865 | Y>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1197969589 CA386757042 |
870 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA243662630 rs755604115 |
872 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794398 rs752631749 |
873 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs781100397 CA6794397 |
873 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA386756971 rs12231744 |
876 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_033156 CA6794394 rs12231744 |
876 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386756960 rs1383553544 |
878 | E>K | No |
ClinGen gnomAD |
|
|
CA6794391 rs750607491 |
880 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1396768244 CA386756938 |
881 | I>V | No |
ClinGen gnomAD |
|
|
rs1298969811 CA386755538 |
884 | P>T | No |
ClinGen TOPMed |
|
|
CA386755523 rs1330647873 |
885 | P>L | No |
ClinGen gnomAD |
|
|
CA386755519 rs1407949694 |
886 | V>L | No |
ClinGen gnomAD |
|
|
rs767790120 CA6794362 |
889 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243657983 rs767790120 |
889 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794361 rs759936950 |
889 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6794360 rs199692990 |
893 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386755408 rs1353164106 |
895 | T>S | No |
ClinGen TOPMed |
|
|
CA6794358 rs747693587 |
901 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1235036453 CA386755342 |
902 | S>P | No |
ClinGen gnomAD |
|
|
CA6794356 rs768105986 |
903 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746932188 CA6794355 |
907 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA386755281 rs1274165647 |
907 | H>Y | No |
ClinGen gnomAD |
|
|
rs779974381 CA6794354 |
914 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6794352 VAR_054100 rs12298022 |
915 | L>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6794350 rs761545504 |
916 | I>* | No |
ClinGen ExAC |
|
|
rs764753252 CA6794351 |
916 | I>KRK* | No |
ClinGen ExAC |
|
|
CA6794349 rs779328530 |
916 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386755147 rs1373991119 |
917 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs200358068 COSM935134 CA243657933 |
917 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs1251574241 CA386755126 |
919 | K>E | No |
ClinGen TOPMed |
|
|
rs754077230 CA6794347 |
923 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794346 rs147412255 |
924 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 928 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 929 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794344 rs749161455 COSM1511160 |
930 | L>F | lung central_nervous_system Variant assessed as Somatic; 4.648e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6794345 rs749161455 |
930 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 932 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794342 rs759862349 |
932 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386753695 rs1447743314 |
934 | E>D | No |
ClinGen TOPMed |
|
|
rs763234852 CA6794315 |
935 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1188434277 CA386753684 |
936 | K>R | No |
ClinGen TOPMed |
|
|
rs753553537 CA6794314 |
937 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 939 | K>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386753620 rs1487923328 |
941 | V>A | No |
ClinGen gnomAD |
|
|
CA6794313 rs763724000 |
941 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA386753566 rs1310287527 |
945 | V>A | No |
ClinGen gnomAD |
|
|
CA386753572 rs1236388632 |
945 | V>L | No |
ClinGen gnomAD |
|
|
CA6794309 rs759544714 |
956 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6794308 rs774375183 |
958 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6794307 rs770857642 |
958 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553675775 CA6794305 |
961 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 963 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770023149 CA6794304 |
963 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386753302 rs1425241229 |
964 | L>F | No |
ClinGen gnomAD |
|
|
rs748275092 CA6794303 |
967 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1257597382 CA386753245 |
968 | K>E | No |
ClinGen gnomAD |
|
|
CA6794302 rs781353002 |
968 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 969 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794300 rs747516649 |
973 | I>E | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q14CX7
No regional properties for Q14CX7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14CX7 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| NatB complex | A conserved complex that catalyzes the transfer of an acetyl group to the N-terminal residue of a protein acceptor molecule that has a Met-Glu, Met-Asp, Met-Asn, or Met-Met N-terminus. In Saccharomyces the complex includes Nat3p and Mdm20p. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| N-terminal peptidyl-methionine acetylation | The acetylation of the N-terminal methionine of proteins to form the derivative N-acetyl-L-methionine. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATRGHVQDP | NDRRLRPIYD | YLDNGNNKMA | IQQADKLLKK | HKDLHCAKVL | KAIGLQRTGK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEEAFTLAQE | VAALEPTDDN | SLQALTILYR | EMHRPELVTK | LYEAAVKKVP | NSEEYHSHLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MAYARVGEYK | KMQQAGMALY | KIVPKNPYYF | WSVMSLIMQS | ISAQDENLSK | TMFLPLAERM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VEKMVKEDKI | EAEAEVELYY | MILERLGKYQ | EALDVIRGKL | GEKLTSEIQS | RENKCMAMYK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLSRWPECNA | LSRRLLLKNS | DDWQFYLTYF | DSVFRLIEEA | WSPPAEGEHS | LEGEVHYSAE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KAVKFIEDRI | TEESKSSRHL | RGPHLAKLEL | IRRLRSQGCN | DEYKLGDPEE | LMFQYFKKFG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DKPCCFTDLK | VFVDLLPATQ | CTKFINQLLG | VVPLSTPTED | KLALPADIRA | LQQHLCVVQL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TRLLGLYHTM | DKNQKLSVVR | ELMLRYQHGL | EFGKTCLKTE | LQFSDYYCLL | AVHALIDVWR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ETGDETTVWQ | ALTLLEEGLT | HSPSNAQFKL | LLVRIYCMLG | AFEPVVDLYS | SLDAKHIQHD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TIGYLLTRYA | ESLGQYAAAS | QSCNFALRFF | HSNQKDTSEY | IIQAYKYGAF | EKIPEFIAFR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NRLNNSLHFA | QVRTERMLLD | LLLEANISTS | LAESIKSMNL | RPEEDDIPWE | DLRDNRDLNV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FFSWDPKDRD | VSEEHKKLSL | EEETLWLRIR | SLTLRLISGL | PSLNHPVEPK | NSEKTAENGV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SSRIDILRLL | LQQLEATLET | GKRFIEKDIQ | YPFLGPVPTR | MGGFFNSGCS | QCQISSFYLV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NDIYELDTSG | LEDTMEIQER | IENSFKSLLD | QLKDVFSKCK | GDLLEVKDGN | LKTHPTLLEN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LVFFVETISV | ILWVSSYCES | VLRPYKLNLQ | KKKKKKKETS | IIMPPVFTSF | QDYVTGLQTL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ISNVVDHIKG | LETHLIALKL | EELILEDTSL | SPEERKFSKT | VQGKVQSSYL | HSLLEMGELL |
| 970 | |||||
| KKRLETTKKL | KI |