Q9BRP7
Gene name |
FDXACB1 |
Protein name |
Ferredoxin-fold anticodon-binding domain-containing protein 1 |
Names |
FDX-ACDB domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91893 |
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 Q9BRP7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BRP7-F1 | Predicted | AlphaFoldDB |
510 variants for Q9BRP7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA382584816 rs782795404 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6275222 rs782795404 |
2 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA382584813 rs1309809670 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6275220 rs781928142 |
3 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781928142 CA382584808 |
3 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6275219 rs199757538 |
4 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382584801 rs1555162702 |
5 | R>C | No |
ClinGen gnomAD |
|
|
rs1555162701 CA382584800 |
5 | R>H | No |
ClinGen gnomAD |
|
|
rs1555162701 CA382584797 |
5 | R>L | No |
ClinGen gnomAD |
|
|
rs782085797 CA6275218 |
8 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6275217 rs781982130 |
9 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA382584770 rs1251927299 |
10 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA382584747 rs1470219054 |
12 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1405125160 CA382584744 |
13 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6275212 rs782228373 |
16 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1165550531 CA382584694 |
17 | A>G | No |
ClinGen TOPMed |
|
|
CA382584698 rs1555162690 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1396503947 CA382584674 |
20 | L>M | No |
ClinGen TOPMed |
|
|
CA382584617 rs1592492503 |
23 | T>P | No |
ClinGen Ensembl |
|
|
rs782589397 CA6275211 |
24 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs979760190 CA228527580 |
24 | L>V | No |
ClinGen gnomAD |
|
|
rs952523075 CA228527576 |
25 | D>H | No |
ClinGen TOPMed |
|
|
CA382584580 rs1555162681 |
26 | Q>R | No |
ClinGen gnomAD |
|
|
rs531261233 CA228527575 |
27 | S>G | No |
ClinGen 1000Genomes |
|
|
rs782532363 CA382584567 |
27 | S>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_062165 rs59164893 CA6275209 |
28 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs972483329 CA228527560 |
28 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782690801 CA382584545 |
29 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6275207 rs782537413 |
30 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6275205 rs527479966 |
31 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200945875 CA382584534 |
31 | T>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs200945875 CA6275206 |
31 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA6275203 rs781827872 |
32 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA382584512 rs1371245471 |
33 | T>I | No |
ClinGen TOPMed |
|
|
CA6275202 rs782749583 |
33 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA382584505 rs1228382030 |
34 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1555162670 CA382584487 |
36 | Q>K | No |
ClinGen gnomAD |
|
|
CA382584480 rs1555162669 |
36 | Q>R | No |
ClinGen gnomAD |
|
|
CA382584471 rs1294440962 |
37 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6275201 rs782157404 |
37 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228527532 rs782157404 |
37 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782008194 CA6275200 |
38 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382584401 rs200121963 |
40 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782050794 CA6275198 |
40 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382584386 rs1555162662 |
42 | A>P | No |
ClinGen gnomAD |
|
|
CA6275194 rs201345383 |
43 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382584376 rs201345383 |
43 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6275193 rs782418929 |
44 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6275190 rs782445482 |
45 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6275191 rs782578408 |
45 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6275188 rs577881821 |
46 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6275189 rs782239827 |
46 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482442130 CA382584340 |
47 | A>V | No |
ClinGen TOPMed |
|
|
CA382584328 rs1419863509 |
48 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1419863509 CA382584327 |
48 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs781895916 CA6275185 |
50 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782440405 CA6275183 |
50 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs368645940 CA6275184 |
50 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782425968 CA6275182 |
52 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382584271 rs1555162641 |
53 | C>F | No |
ClinGen gnomAD |
|
|
rs1172784358 CA382584278 |
53 | C>R | No |
ClinGen TOPMed |
|
|
rs1555162641 CA382584273 |
53 | C>S | No |
ClinGen gnomAD |
|
|
rs1555162641 CA382584274 |
53 | C>Y | No |
ClinGen gnomAD |
|
|
CA6275180 rs782081440 |
55 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782767492 CA6275178 |
56 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782169934 CA6275177 |
56 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6275179 rs782767492 |
56 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555162627 CA382584241 |
57 | R>G | No |
ClinGen gnomAD |
|
|
CA228527441 rs904559247 |
58 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382584232 rs904559247 |
58 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382583931 rs1411778026 |
60 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6275146 rs201328668 |
61 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6275143 rs374033566 |
62 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6275142 rs374033566 |
62 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6275141 rs370499813 |
62 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382583913 rs370499813 |
62 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6275144 rs374033566 |
62 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382583902 rs1555162579 |
64 | G>C | No |
ClinGen gnomAD |
|
|
CA382583866 rs1329001651 |
66 | D>E | No |
ClinGen TOPMed |
|
|
rs782381416 CA6275139 |
67 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1337001085 CA382583845 |
68 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782687266 CA6275137 |
69 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs968688606 CA228527216 |
71 | A>V | No |
ClinGen Ensembl |
|
|
rs1021614224 CA228527212 |
75 | E>G | No |
ClinGen Ensembl |
|
|
CA382583766 rs1555162574 |
75 | E>Q | No |
ClinGen gnomAD |
|
|
CA6275134 rs140776979 |
76 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782502997 CA6275133 |
77 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs781828338 CA6275132 |
80 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6275131 rs782797698 |
82 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA228527202 rs782115847 |
83 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382583687 rs1555162568 |
83 | Q>H | No |
ClinGen gnomAD |
|
|
CA6275130 rs782115847 |
83 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781882088 CA6275129 |
86 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6275128 VAR_060321 rs611010 |
87 | I>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382583659 rs611010 |
87 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs611010 CA382583660 |
87 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382583649 rs1180655775 |
89 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376916792 CA6275127 |
90 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6275126 rs781966023 |
91 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1003034139 CA228527153 |
92 | G>A | No |
ClinGen Ensembl |
|
|
CA6275125 rs782336577 |
94 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382583599 rs1555162550 |
97 | V>I | No |
ClinGen gnomAD |
|
|
CA382583589 rs1555162545 |
98 | A>G | No |
ClinGen gnomAD |
|
|
rs373717788 CA6275123 |
99 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA228527141 rs369672818 |
99 | K>T | No |
ClinGen ESP TOPMed |
|
|
CA6275122 rs377284681 |
100 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782282773 CA6275121 |
102 | E>V | No |
ClinGen ExAC gnomAD |
|
|
COSM4145306 rs144833582 CA6275108 COSM4145305 |
114 | V>I | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382583452 rs1207203640 |
116 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1249355458 CA382583449 |
117 | E>K | No |
ClinGen TOPMed |
|
|
rs1555162286 CA382583443 |
118 | E>K | No |
ClinGen gnomAD |
|
|
CA6275105 rs372496285 |
121 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382583412 rs1555162280 |
122 | H>R | No |
ClinGen gnomAD |
|
|
CA382583408 rs370171096 |
123 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6275103 rs370171096 |
123 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6275102 rs782021417 |
124 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA382583401 rs1555162274 |
124 | A>S | No |
ClinGen gnomAD |
|
|
rs183279459 CA6275100 |
127 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1197220 rs200459403 CA6275099 COSM1197219 |
130 | G>D | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1592490027 CA382583361 |
130 | G>S | No |
ClinGen Ensembl |
|
|
rs1555162267 CA382583341 |
133 | P>L | No |
ClinGen gnomAD |
|
|
rs782349669 CA382583337 |
134 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782349669 CA6275098 |
134 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781988715 CA6275096 |
135 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs368204224 CA228526286 |
136 | K>Q | No |
ClinGen TOPMed |
|
|
rs1592490002 CA382582734 |
137 | P>L | No |
ClinGen Ensembl |
|
|
rs782439881 CA6275095 |
139 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA228526276 rs782263609 |
140 | E>K | No |
ClinGen Ensembl |
|
|
CA228526268 rs1044877088 |
141 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1012502792 CA228526265 |
142 | H>R | No |
ClinGen Ensembl |
|
|
CA382582639 rs1555162255 |
142 | H>Y | No |
ClinGen gnomAD |
|
|
rs1555162253 CA382582595 |
144 | S>R | No |
ClinGen gnomAD |
|
|
rs782211070 CA6275090 |
150 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555162248 CA382582489 |
150 | M>V | No |
ClinGen gnomAD |
|
|
rs1555162245 CA382582462 |
151 | A>S | No |
ClinGen gnomAD |
|
|
rs782647610 CA6275089 |
151 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382582448 rs1555162243 |
152 | A>P | No |
ClinGen gnomAD |
|
|
rs1313823289 CA382582393 |
155 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs554893289 CA6275086 |
155 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1313823289 CA382582387 |
155 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382582396 rs554893289 |
155 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6275082 rs781791480 |
156 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA382582327 rs1272321186 |
159 | S>G | No |
ClinGen TOPMed |
|
|
CA6275080 rs75258745 |
160 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367952793 CA228526229 |
161 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6275077 rs782173873 |
162 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6275076 rs782024980 |
163 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1566369235 CA382582274 |
163 | P>L | No |
ClinGen Ensembl |
|
|
rs782300536 CA6275075 |
164 | F>L | No |
ClinGen ExAC |
|
|
rs1555162228 CA382624572 |
169 | V>E | No |
ClinGen gnomAD |
|
|
rs569000920 CA6275074 |
171 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382624559 rs569000920 |
171 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592489862 CA382624556 |
172 | Y>D | No |
ClinGen Ensembl |
|
|
rs1555162225 CA382624544 |
173 | K>N | No |
ClinGen gnomAD |
|
|
rs782385232 CA6275072 |
174 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA382624539 rs1388814818 |
174 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782275453 CA228566505 |
175 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782275453 CA6275071 |
175 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782682396 CA6275070 |
175 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555162220 CA382624529 |
176 | G>V | No |
ClinGen gnomAD |
|
|
rs781984213 CA6275052 |
178 | R>S | No |
ClinGen ExAC |
|
|
CA6275069 rs782535465 |
178 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6275051 rs782420239 |
180 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs782148977 CA6275050 |
180 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1342645109 CA382624483 |
181 | D>G | No |
ClinGen TOPMed |
|
|
CA382624485 rs1276483324 |
181 | D>H | No |
ClinGen TOPMed |
|
|
rs1268496553 CA382624475 |
182 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6275047 rs782227098 |
184 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555162187 CA382624447 |
186 | V>A | No |
ClinGen gnomAD |
|
|
CA6275046 rs782596239 |
186 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6275044 rs782246443 |
188 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555162184 CA382624432 |
189 | A>T | No |
ClinGen gnomAD |
|
|
CA382624408 rs1555162183 |
192 | H>R | No |
ClinGen gnomAD |
|
|
CA6275043 rs782689448 |
192 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371392509 CA6275042 |
193 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6275041 rs530922734 |
195 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6275038 rs781866894 |
199 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781866894 CA382624360 |
199 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201248796 CA6275039 |
199 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781881813 CA6275034 |
201 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555162173 CA382624341 |
202 | G>D | No |
ClinGen gnomAD |
|
|
CA382624330 rs1325485447 |
204 | Q>* | No |
ClinGen TOPMed |
|
|
rs1555162170 CA382624324 |
205 | P>S | No |
ClinGen gnomAD |
|
|
rs1555162170 CA382624322 |
205 | P>T | No |
ClinGen gnomAD |
|
|
CA382624311 rs1566368679 |
207 | I>V | No |
ClinGen Ensembl |
|
|
CA6275031 rs781973551 |
212 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382624244 rs868910425 |
216 | W>* | No |
ClinGen TOPMed |
|
|
CA382624226 rs1352026796 |
218 | S>F | No |
ClinGen TOPMed |
|
|
CA6275029 rs782347826 |
220 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6275028 rs542018782 |
220 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781990717 CA6275026 |
223 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004782244 CA228566266 |
223 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782420720 CA6275025 |
224 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6275024 rs782282119 |
225 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA228566250 rs886368667 |
226 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382624179 rs1292084661 |
226 | V>L | No |
ClinGen TOPMed |
|
|
rs782592918 CA6275022 |
227 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1047021765 CA228566228 |
229 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382624153 rs1566368541 |
230 | N>S | No |
ClinGen Ensembl |
|
|
rs1555162160 CA382624149 |
231 | R>G | No |
ClinGen gnomAD |
|
|
CA382624119 rs1188695306 |
232 | G>V | No |
ClinGen TOPMed |
|
|
rs1555162127 CA382624085 |
236 | A>P | No |
ClinGen gnomAD |
|
|
rs1555162127 CA382624084 |
236 | A>T | No |
ClinGen gnomAD |
|
|
rs369039452 CA228566016 |
236 | A>V | No |
ClinGen ESP |
|
|
CA6275007 rs781875795 |
237 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs782764668 CA6275006 |
240 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228565991 rs142473337 |
242 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs375728601 CA228565971 |
243 | K>N | No |
ClinGen ESP |
|
|
CA382624011 rs1566368148 |
243 | K>R | No |
ClinGen Ensembl |
|
|
rs963165619 CA228565958 |
244 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 249 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782020485 CA6275003 |
251 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6275002 rs782736410 |
255 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1592489228 CA382623885 |
255 | K>R | No |
ClinGen Ensembl |
|
|
rs1178891170 CA382623859 |
257 | F>S | No |
ClinGen TOPMed |
|
|
rs189903941 CA6275000 |
258 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1364171010 CA382623809 |
259 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA382623807 rs1364171010 |
259 | L>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 261 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555162107 CA382623757 |
261 | R>S | No |
ClinGen gnomAD |
|
|
rs1381030608 CA382623720 |
263 | K>T | No |
ClinGen TOPMed |
|
|
rs1332070975 CA382623688 |
264 | C>S | No |
ClinGen TOPMed |
|
|
CA382623649 rs1555162095 |
266 | Y>H | No |
ClinGen gnomAD |
|
|
rs1592489159 CA382623639 |
266 | Y>S | No |
ClinGen Ensembl |
|
|
rs267602690 CA228565880 |
267 | P>L | No |
ClinGen Ensembl |
|
|
rs782029467 CA6274995 |
267 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555162089 CA382623582 |
269 | L>P | No |
ClinGen gnomAD |
|
|
rs1225774726 CA382623562 |
270 | P>L | No |
ClinGen TOPMed |
|
|
CA6274994 rs782400704 |
271 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA382623528 rs1261630681 |
272 | E>K | No |
ClinGen TOPMed |
|
|
CA6274992 rs782559863 |
273 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA382623480 rs1566367918 |
275 | S>G | No |
ClinGen Ensembl |
|
|
rs557152920 CA6274991 |
276 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs782215561 CA6274990 |
277 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6274989 rs201952370 |
278 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6274988 rs201952370 |
278 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555162083 CA382623433 |
279 | F>L | No |
ClinGen gnomAD |
|
|
CA382623346 rs1185883110 |
283 | D>E | No |
ClinGen TOPMed |
|
|
CA6274987 rs781909860 |
283 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6274986 rs782812093 |
284 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376903298 CA382623330 |
286 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376903298 CA6274985 |
286 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781795968 CA6274984 |
287 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA382623317 rs1469546051 |
289 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782714957 CA382623290 |
292 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782714957 CA6274983 |
292 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782127058 CA6274982 |
293 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA382623274 rs1347058565 |
294 | H>Q | No |
ClinGen TOPMed |
|
|
CA382623261 rs781976406 |
296 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382623264 rs1555162074 |
296 | D>H | No |
ClinGen gnomAD |
|
|
rs781976406 CA6274981 |
296 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555162073 CA382623255 |
297 | N>S | No |
ClinGen gnomAD |
|
|
rs782147764 CA6274979 |
300 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6274980 rs782807549 |
300 | S>T | No |
ClinGen ExAC |
|
|
rs1555162069 CA382623219 |
302 | S>F | No |
ClinGen gnomAD |
|
|
CA6274976 rs782224550 |
304 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555162066 CA382623190 |
305 | G>D | No |
ClinGen gnomAD |
|
|
rs367754447 CA6274975 |
306 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1407282129 CA382623145 |
309 | Q>K | No |
ClinGen TOPMed |
|
|
rs374128358 CA228565760 |
309 | Q>R | No |
ClinGen ESP gnomAD |
|
|
CA6274973 rs534644379 |
314 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6274972 rs782250299 |
314 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs371239584 CA6274971 |
315 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371239584 CA382622998 |
315 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1314649956 CA382622947 |
317 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1314649956 CA382622950 |
317 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA228565745 rs924214638 |
321 | L>R | No |
ClinGen Ensembl |
|
|
rs782205189 CA6274969 |
323 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6274967 rs782504862 |
327 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382622647 rs1555162049 |
328 | G>E | No |
ClinGen gnomAD |
|
|
CA382622611 rs1489458854 |
330 | D>N | No |
ClinGen TOPMed |
|
|
CA382622554 rs1220158440 |
331 | G>D | No |
ClinGen TOPMed |
|
|
rs374384559 CA6274965 |
334 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555162040 CA382622379 |
337 | E>* | No |
ClinGen Ensembl |
|
|
CA382622357 rs1555162039 |
338 | G>* | No |
ClinGen gnomAD |
|
|
CA6274962 rs781886688 |
338 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6274960 rs370683740 |
339 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370683740 CA6274959 |
339 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6274961 rs782712776 |
339 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782721202 CA6274958 |
341 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs376141657 CA6274957 |
341 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6274955 rs563448840 |
342 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6274953 rs781943119 |
345 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1350536497 CA382622076 |
347 | L>H | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6274951 rs782239950 |
349 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA382621871 rs1555162029 |
354 | H>P | No |
ClinGen gnomAD |
|
|
rs1555162026 CA382621852 |
355 | V>A | No |
ClinGen gnomAD |
|
|
CA6274949 rs782363909 |
355 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555162024 CA382621846 |
356 | Q>E | No |
ClinGen gnomAD |
|
|
rs1301773130 TCGA novel CA382621833 |
357 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs372889858 CA6274947 |
357 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6274945 rs782450166 |
359 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs782450166 CA382621825 |
359 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA6274942 rs782469814 |
360 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs782617995 COSM923052 CA6274943 COSM923051 |
360 | E>K | Variant assessed as Somatic; 4.641e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs782617995 CA382621819 |
360 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370579560 CA6274941 |
362 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370790792 CA382621792 |
364 | F>V | No |
ClinGen TOPMed |
|
|
rs782777581 CA6274940 |
368 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755792614 CA228565565 |
369 | L>P | No |
ClinGen Ensembl |
|
|
rs782162578 CA6274939 |
370 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382621746 rs1555162011 |
371 | I>N | No |
ClinGen gnomAD |
|
|
rs781891264 CA6274938 |
373 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs373040520 CA382621720 |
375 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6274936 rs373040520 |
375 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382621723 rs376322554 |
375 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6274937 rs376322554 |
375 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382621719 rs1483322771 |
376 | V>I | No |
ClinGen TOPMed |
|
|
CA228565531 rs983243600 |
380 | C>S | No |
ClinGen Ensembl |
|
|
CA382621680 rs1555162004 |
381 | H>Y | No |
ClinGen gnomAD |
|
|
rs782353556 CA6274934 |
382 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555162002 CA382621662 |
383 | L>F | No |
ClinGen gnomAD |
|
|
rs61739323 CA6274933 |
385 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6274931 rs782404074 |
387 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1566367100 CA382621623 |
389 | A>V | No |
ClinGen Ensembl |
|
|
rs1555161993 CA382621610 |
391 | H>R | No |
ClinGen Ensembl |
|
|
CA6274930 rs782188535 |
393 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781783782 CA6274928 |
393 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781783782 CA6274929 |
393 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA382621598 rs782188535 |
393 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6274927 rs782212436 |
396 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6274926 rs137921139 |
398 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs964676897 CA228565438 |
399 | V>I | No |
ClinGen TOPMed |
|
|
rs1555161987 CA382621554 |
400 | N>S | No |
ClinGen gnomAD |
|
|
CA6274924 rs782292027 |
401 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782504201 CA6274925 |
401 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6274922 rs782766959 |
404 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186732605 CA6274921 |
407 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6274919 rs782480133 |
408 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs369642482 CA6274917 |
412 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6274915 rs781936090 |
413 | D>G | No |
ClinGen ExAC |
|
|
COSM4145304 rs150357037 COSM4145303 CA6274916 |
413 | D>Y | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1053913268 CA228565400 |
414 | H>Y | No |
ClinGen Ensembl |
|
|
rs781947206 CA6274912 |
415 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA382621454 rs1353121486 |
415 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1441037655 CA382621442 |
417 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA382621435 rs1555161967 |
418 | I>N | No |
ClinGen gnomAD |
|
|
rs782389662 CA6274909 |
423 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6274902 rs200079165 |
428 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6274903 rs141251272 |
428 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1204118195 CA382621275 |
429 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1555161957 CA382621268 |
430 | S>G | No |
ClinGen gnomAD |
|
|
CA382621231 rs1555161954 |
432 | K>E | No |
ClinGen gnomAD |
|
|
CA6274898 rs782709619 |
432 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782742585 CA6274895 |
436 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782742585 CA6274896 |
436 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555161950 CA382621112 |
439 | F>S | No |
ClinGen gnomAD |
|
|
CA382621094 rs1450712125 |
440 | V>F | No |
ClinGen TOPMed |
|
|
rs368744512 CA228565235 |
441 | L>P | No |
ClinGen ESP |
|
|
CA6274894 rs782126011 |
441 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6274893 rs781982805 |
442 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228565229 rs782382714 |
442 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 442 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566366674 CA382621036 |
444 | N>D | No |
ClinGen Ensembl |
|
|
CA382621031 rs1566366657 |
444 | N>S | No |
ClinGen Ensembl |
|
|
CA382621023 rs1555161947 |
445 | G>R | No |
ClinGen gnomAD |
|
|
CA382620993 rs1555161946 |
447 | D>N | No |
ClinGen gnomAD |
|
|
rs1409704205 CA382620950 |
449 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781937716 CA6274890 |
450 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA228565210 rs908957361 |
451 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA228565212 rs908957361 |
451 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6274889 rs148283666 |
451 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782076804 CA6274888 |
452 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382620921 rs1365199954 |
452 | V>L | No |
ClinGen TOPMed |
|
|
CA382620896 rs1555161938 |
453 | K>E | No |
ClinGen gnomAD |
|
|
CA6274887 rs372105197 |
455 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950560304 CA228565195 |
456 | N>S | No |
ClinGen gnomAD |
|
|
rs782289410 CA382620795 |
459 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782289410 CA6274885 |
459 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782690822 CA6274884 |
461 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782690822 CA382620738 |
461 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574668776 CA6274882 |
462 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6274883 rs574668776 |
462 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6274880 rs200674796 |
464 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1262599029 CA382620654 |
466 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782642094 CA6274878 |
467 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs182775518 CA228565121 |
467 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6274876 rs781906446 |
471 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1555161935 CA382620576 |
471 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782697834 CA6274875 |
472 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382620549 rs1555161934 |
474 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 474 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_060322 CA228565085 rs3168263 |
475 | T>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1555161932 CA382620534 |
475 | T>S | No |
ClinGen gnomAD |
|
|
rs781820404 CA6274873 |
478 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA382620500 rs1475359404 |
478 | I>V | No |
ClinGen TOPMed |
|
|
CA382620483 rs1566366392 |
479 | H>R | No |
ClinGen Ensembl |
|
|
CA6274872 rs370615697 |
481 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382620433 rs1555161928 |
482 | Q>H | No |
ClinGen gnomAD |
|
|
rs1555161929 CA382620437 |
482 | Q>L | No |
ClinGen gnomAD |
|
|
CA6274871 rs782104706 |
484 | F>C | No |
ClinGen ExAC |
|
|
CA382620397 rs1555161926 |
485 | V>L | No |
ClinGen gnomAD |
|
|
CA6274869 rs781994554 |
486 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs552500014 CA6274868 |
487 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377148351 CA6274867 |
488 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77080347 CA6274866 |
489 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6274863 rs201937600 |
494 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377348351 CA6274862 |
495 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377348351 CA382620181 |
495 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315573236 CA382620186 |
495 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6274861 rs782273811 |
496 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6274860 rs782690321 |
497 | L>P | No |
ClinGen ExAC |
|
|
rs1555161919 CA382620150 |
497 | L>V | No |
ClinGen gnomAD |
|
|
rs781803989 CA6274858 |
502 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555161916 CA382619991 |
502 | S>C | No |
ClinGen gnomAD |
|
|
CA6274859 rs781803989 |
502 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6274855 rs782599418 |
504 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555161912 CA382619912 |
506 | M>V | No |
ClinGen gnomAD |
|
|
rs782179550 CA228564921 |
508 | W>* | No |
ClinGen Ensembl |
|
|
CA382619847 rs1343338879 |
509 | T>A | No |
ClinGen TOPMed |
|
|
rs782481215 CA6274854 |
509 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374516075 CA6274852 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs191172184 CA6274851 |
513 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382619743 rs1555161906 |
514 | F>S | No |
ClinGen gnomAD |
|
|
CA382619724 rs1446998773 |
515 | L>P | No |
ClinGen TOPMed |
|
|
CA382619726 rs1446998773 |
515 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 517 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000043705 CA228564894 |
519 | V>F | No |
ClinGen Ensembl |
|
|
rs369766483 CA6274849 |
523 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1025537590 CA228564893 |
523 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs377686600 CA6274848 |
524 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382619562 rs1555161893 |
525 | P>L | No |
ClinGen gnomAD |
|
|
CA6274847 rs781975900 |
528 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6274846 rs782764710 |
529 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1406606068 CA382619448 |
530 | S>F | No |
ClinGen TOPMed |
|
|
rs532801312 CA6274845 |
532 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782019053 CA6274844 |
533 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA6274842 rs782175628 |
535 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782339276 CA6274840 |
536 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1592488204 CA382619274 |
539 | D>N | No |
ClinGen Ensembl |
|
|
rs782226506 CA6274839 |
539 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA382619172 rs1555161879 |
543 | W>L | No |
ClinGen gnomAD |
|
|
rs1055336868 CA382619146 |
544 | I>R | No |
ClinGen gnomAD |
|
|
rs1055336868 CA228564790 |
544 | I>T | No |
ClinGen gnomAD |
|
|
rs941685272 CA228564781 |
545 | D>H | No |
ClinGen Ensembl |
|
|
CA228564778 rs887467137 |
546 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382619095 rs1566366017 |
547 | K>Q | No |
ClinGen Ensembl |
|
|
rs782267329 CA6274835 |
549 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6274833 rs782585990 |
550 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs782454968 CA6274832 |
551 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6274831 rs781828241 |
552 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6274830 rs782743535 |
554 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA382618922 rs1555161868 |
554 | E>Q | No |
ClinGen gnomAD |
|
|
CA6274829 rs782508735 |
555 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs781874017 COSM3981280 CA6274828 COSM3981281 |
555 | F>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA382618855 rs868954014 |
557 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6274827 rs782797106 |
557 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6274825 rs373615647 |
560 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6274824 rs782726472 |
560 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781967099 CA6274822 |
562 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555161859 CA382618768 |
564 | Q>* | No |
ClinGen gnomAD |
|
|
rs1555161859 CA382618770 |
564 | Q>E | No |
ClinGen gnomAD |
|
|
CA382618751 rs1247372678 |
565 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6274820 rs782255885 |
565 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA382618741 rs1294534177 |
566 | T>A | No |
ClinGen TOPMed |
|
|
CA6274819 rs782009981 |
566 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs376050297 CA6274817 |
567 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369394719 CA6274818 |
567 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382618722 rs1555161854 |
568 | I>L | No |
ClinGen gnomAD |
|
|
CA382618721 rs1555161854 |
568 | I>V | No |
ClinGen gnomAD |
|
|
rs782598258 CA6274816 |
570 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555161852 CA382618690 |
571 | Q>R | No |
ClinGen gnomAD |
|
|
CA6274815 rs751078787 |
573 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6274814 rs782244353 |
575 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782651951 CA6274813 |
575 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6274812 rs782539243 |
580 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA382618616 rs1555161844 |
582 | Q>* | No |
ClinGen gnomAD |
|
|
rs1555161844 CA382618617 |
582 | Q>E | No |
ClinGen gnomAD |
|
|
CA228564617 rs976281671 |
582 | Q>P | No |
ClinGen TOPMed |
|
|
COSM923042 CA6274811 COSM923041 rs371622116 |
583 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs368968622 CA6274810 |
584 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423906955 CA382618578 |
587 | C>W | No |
ClinGen TOPMed |
|
|
rs544142953 CA6274807 |
588 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782446187 CA6274808 |
588 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs943256741 CA228564564 |
589 | R>G | No |
ClinGen gnomAD |
|
|
CA228564537 rs199809389 |
592 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA382618534 rs782108944 |
593 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6274805 rs782108944 |
593 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6274804 rs200882357 |
594 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6274801 rs199933042 |
596 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6274802 COSM1506552 rs200631446 COSM1506551 |
596 | D>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA382618445 rs1327040993 |
599 | L>F | No |
ClinGen TOPMed |
|
|
CA382618427 rs1555161835 |
600 | T>I | No |
ClinGen gnomAD |
|
|
CA382618419 rs1335276634 |
601 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6274799 rs374367178 |
605 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382618363 rs1555161832 |
605 | A>V | No |
ClinGen gnomAD |
|
|
CA6274798 rs781990522 |
606 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6274796 rs782276335 |
607 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555161828 CA382618345 |
607 | M>T | No |
ClinGen gnomAD |
|
|
rs142227201 CA6274797 |
607 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382618322 rs368275758 |
608 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371108602 CA6274793 |
609 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374832818 CA6274794 |
609 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555161824 CA382618282 |
611 | F>L | No |
ClinGen gnomAD |
|
|
CA382618266 rs1555161823 |
613 | K>Q | No |
ClinGen gnomAD |
|
|
CA382618234 rs1245878693 |
615 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6274789 rs782653280 |
618 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs782278614 CA6274790 |
618 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377405344 CA382618178 |
619 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271804693 CA382618165 |
620 | Y>H | No |
ClinGen TOPMed |
|
|
CA6274786 rs764174737 |
621 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555161812 CA382618129 |
622 | I>M | No |
ClinGen gnomAD |
|
|
CA6274785 rs553154939 |
622 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6274783 rs782760088 |
624 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782760088 CA228564388 |
624 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6274784 rs781847840 |
624 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BRP7
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| rRNA (uridine-N3-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + rRNA = S-adenosyl-L-homocysteine + rRNA containing N3-methyluridine. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA base methylation | The addition of a methyl group to an atom in the nucleoside base portion of a nucleotide residue in an rRNA molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPRRLLLVG | EGNFSFAAAL | SETLDQSTQL | TATCLQRPAE | LARDPLAWEN | LQCLRERGID |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VRFGVDCTQL | ADVFELHERE | FDQIYFIFPH | CGRKAGVAKN | RELLAKFFQS | CADVLAEEGE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VHVALCRGQG | GTPADKPQRE | WHNSWQVVAM | AALGGLILSD | VYPFSCKAVA | GYKCTGYRSQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DKSFHVEGAL | NHIFTRSLPF | EGSQPRIFRI | KLGNQWFSFP | EPEALVGKLN | RGFLEAPSCH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PIKTINEKLI | AELGKVFPLK | RLKCSYPLLP | QEGTSVLPFW | NCDFLSAAFW | ISLHEDNSNS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ESLTGGTSQD | VEDFLVSFSE | LSLLKNPGRD | GKEEACEGTC | GQAKICLRPS | LLVHVQDVIE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VPDFLSGSLH | ILSGPVFQKC | HILPFTMPAF | HETLFILGVN | QNLKDGCLQS | LLDHLKGILD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLLTQTLPES | SKLSSLVKFV | LQSNGKDYMI | RVKTHNFSPD | CTEDLIIGSV | ITSATSVIHK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DQCFVFVSMN | LDLLAMLVWC | ISDWRMLWTF | DNRFLKNFVP | GKIEPFKSHS | LYPPCYVHDV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SFWIDQKKGF | DELEFHTVAR | AVSQDTIISI | QFLSRFQHPK | TQQVSLCYRL | TYQTCDKALT |
| 610 | 620 | ||||
| QQQVASMQSQ | FRKEIQQHLY | VIPR |