P46199
PR
Gene name |
MTIF2 |
Protein name |
Translation initiation factor IF-2, mitochondrial |
Names |
IF-2(Mt), IF-2Mt, IF2(mt) |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4528 |
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
641 variants for P46199
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000210694 CA358210 rs745980045 |
191 | H>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000623089 rs1281877795 |
300 | V>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1665209 rs575732874 |
2 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1665208 rs145314729 |
2 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1272153342 CA346898766 |
3 | Q>P | No |
ClinGen gnomAD |
|
|
rs1328542426 CA346898748 |
6 | L>Q | No |
ClinGen TOPMed |
|
|
CA47585440 rs894433587 |
8 | L>V | No |
ClinGen gnomAD |
|
|
rs960477353 CA47585434 |
9 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1665203 rs755828968 |
11 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1665201 rs764612147 |
13 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs763424499 CA1665200 |
13 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1459698130 CA346898698 |
14 | F>S | No |
ClinGen gnomAD |
|
|
rs201449349 CA1665199 |
17 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA47585392 rs908399621 |
18 | Y>C | No |
ClinGen gnomAD |
|
|
CA346898671 rs908399621 |
18 | Y>S | No |
ClinGen gnomAD |
|
|
CA1665198 rs765880367 |
19 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA346898648 rs1286667642 |
22 | H>N | No |
ClinGen TOPMed |
|
|
rs1182839370 CA346898642 |
22 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1482675174 CA346898640 |
23 | S>R | No |
ClinGen gnomAD |
|
|
rs1243546304 CA346898629 |
24 | L>P | No |
ClinGen TOPMed |
|
|
rs1248201201 CA346898631 |
24 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1488637516 CA346898615 |
26 | Q>R | No |
ClinGen gnomAD |
|
|
rs551220416 CA1665196 |
27 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1330649547 CA346898588 |
30 | L>* | No |
ClinGen gnomAD |
|
|
rs201955690 CA1665194 |
33 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA47585353 rs759717394 |
34 | R>K | No |
ClinGen TOPMed |
|
|
rs773432465 CA346898530 |
34 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1665192 rs771784240 |
35 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774223798 CA1665190 |
36 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA346898483 rs1293190349 |
37 | F>C | No |
ClinGen gnomAD |
|
|
CA346898490 rs1573923565 |
37 | F>V | No |
ClinGen Ensembl |
|
|
rs1414344552 CA346898446 |
40 | A>D | No |
ClinGen gnomAD |
|
|
rs1453913590 CA346898451 |
40 | A>P | No |
ClinGen TOPMed |
|
|
CA346898432 rs1159819850 |
41 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 42 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1665187 rs779680121 |
42 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336418056 CA346898411 |
43 | V>M | No |
ClinGen TOPMed |
|
|
rs755710758 CA1665186 |
44 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346898397 rs755710758 |
44 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346898382 rs1452696230 |
45 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs745469182 CA346898366 |
46 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs745469182 CA1665185 |
46 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780996724 CA1665184 |
47 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1665182 rs376982053 |
49 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346898333 rs1268282981 |
49 | C>Y | No |
ClinGen gnomAD |
|
|
rs931403198 CA47585308 |
50 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1665181 rs765821295 |
52 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1278297258 CA346898281 |
52 | P>R | No |
ClinGen gnomAD |
|
|
rs1239794349 CA346898237 |
54 | P>Q | No |
ClinGen TOPMed |
|
|
rs1332064101 CA346898224 |
55 | T>A | No |
ClinGen gnomAD |
|
|
rs753860992 CA47585306 |
55 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753860992 CA1665179 |
55 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766422221 CA1665178 |
58 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1665176 rs1056445 VAR_054428 |
59 | T>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1665177 rs1056445 |
59 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs796266398 CA47585288 |
61 | A>S | No |
ClinGen gnomAD |
|
|
rs1174281625 CA346898093 |
62 | A>G | No |
ClinGen gnomAD |
|
|
CA1665174 rs143898807 |
65 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA47585264 rs139953700 |
66 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774169774 CA1665173 |
67 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA346897955 rs1573923192 |
69 | L>Q | No |
ClinGen Ensembl |
|
|
CA346897932 rs1444809913 |
70 | V>E | No |
ClinGen gnomAD |
|
|
rs1187467002 CA346897943 |
70 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346897894 rs1280067144 |
71 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414955325 CA346896632 |
76 | G>R | No |
ClinGen gnomAD |
|
|
rs373780283 CA47584106 |
76 | G>V | No |
ClinGen ESP |
|
|
CA1665143 rs769641384 |
77 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346896621 rs1484302888 |
78 | W>G | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746674739 CA1665142 |
79 | K>S | No |
ClinGen ExAC |
|
|
rs142358343 CA1665141 |
80 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346896583 rs1292313353 |
83 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA47584089 rs1022889307 |
85 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs770706547 CA1665139 |
87 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357306980 CA346896559 |
87 | S>Y | No |
ClinGen TOPMed |
|
|
rs372308152 CA1665138 |
88 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs35432898 | 89 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1665137 rs140308189 |
89 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1665136 rs369058033 |
90 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1439760123 CA346896523 |
93 | V>I | No |
ClinGen gnomAD |
|
|
CA346896512 rs1323831395 |
94 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs749632106 CA1665135 |
94 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346896503 rs1404349326 |
95 | I>M | No |
ClinGen gnomAD |
|
|
rs1231400529 CA346896502 |
96 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346896488 rs1459927059 |
97 | M>I | No |
ClinGen TOPMed |
|
|
rs376893700 CA47584052 |
99 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA47584048 rs564281640 |
99 | I>T | No |
ClinGen Ensembl |
|
|
rs376893700 CA1665134 |
99 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160707888 CA346896477 |
100 | E>K | No |
ClinGen gnomAD |
|
|
CA1665133 rs756652654 |
101 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781304459 CA1665132 |
102 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1665130 rs757344499 |
104 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1665129 rs751715242 |
106 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1665128 rs764255123 |
107 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1665127 rs575237933 |
107 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271412565 CA346896410 |
110 | T>A | No |
ClinGen gnomAD |
|
|
CA346896406 rs1029855834 |
110 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA47583991 rs1029855834 |
110 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1313856527 CA346895325 |
111 | D>E | No |
ClinGen gnomAD |
|
|
CA1665104 rs753784344 |
112 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA346895298 rs1282360057 |
113 | V>L | No |
ClinGen gnomAD |
|
|
CA346895276 rs1277445238 |
114 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs143272101 CA1665102 |
114 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA47577928 rs925162583 |
115 | E>G | No |
ClinGen Ensembl |
|
|
CA1665100 rs375927796 |
121 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346895164 rs375927796 |
121 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761429196 CA1665099 |
123 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346895116 rs1429315044 |
124 | I>V | No |
ClinGen gnomAD |
|
|
rs1573895921 CA346895087 |
125 | D>E | No |
ClinGen Ensembl |
|
|
CA47577909 rs980673642 |
125 | D>V | No |
ClinGen Ensembl |
|
|
CA346895073 CA1665098 rs368610419 |
126 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770079425 CA1665097 |
129 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA346895022 rs149948402 |
130 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1434503200 CA346895027 |
130 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1434503200 CA346895025 |
130 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1170748929 CA346894999 |
132 | H>N | No |
ClinGen gnomAD |
|
|
CA1665095 rs777074192 |
134 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA47577877 rs969614699 |
136 | V>A | No |
ClinGen TOPMed |
|
|
CA47577873 rs985417680 |
137 | W>G | No |
ClinGen TOPMed |
|
|
CA1665094 rs771477689 |
139 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs140735121 CA1665093 |
139 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168499879 CA346894845 |
140 | E>K | No |
ClinGen TOPMed |
|
|
CA1665092 rs368244847 |
141 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374641337 CA1665090 |
142 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561472882 CA1665089 |
143 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561472882 CA1665088 |
143 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA47577841 rs756072898 |
145 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756072898 CA1665085 |
145 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 146 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1665084 rs749935832 |
147 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229543498 CA346894691 |
152 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766878520 CA1665083 |
152 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1229543498 CA346894694 |
152 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1573895615 CA346894676 |
153 | K>E | No |
ClinGen Ensembl |
|
|
CA346894614 rs1414659040 |
157 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1665082 rs527838028 |
159 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346894577 rs1228107158 |
160 | R>G | No |
ClinGen TOPMed |
|
|
CA1665081 rs773836144 |
161 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462737198 CA346894543 |
162 | N>S | No |
ClinGen gnomAD |
|
|
CA346894483 rs1187188392 |
166 | V>L | No |
ClinGen gnomAD |
|
|
rs201632577 CA1665076 |
167 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371603844 CA47577754 |
167 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371603844 CA47577753 |
167 | R>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774636536 CA1665054 |
170 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA47577367 rs967787654 |
171 | A>G | No |
ClinGen TOPMed |
|
|
rs967787654 CA346893542 |
171 | A>V | No |
ClinGen TOPMed |
|
|
rs768985212 CA1665053 |
172 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459953981 CA346893512 |
173 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1665050 rs374450362 |
177 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1665049 rs374450362 |
177 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573893825 CA346893439 |
177 | T>P | No |
ClinGen Ensembl |
|
|
rs150849758 CA346893414 |
178 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1665048 rs150849758 |
178 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346893410 rs1454492181 |
179 | R>G | No |
ClinGen gnomAD |
|
|
rs1251993104 CA346893405 |
179 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs775640069 CA47577352 |
181 | P>A | No |
ClinGen Ensembl |
|
|
rs757259971 CA1665047 |
181 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775640069 CA47577349 |
181 | P>S | No |
ClinGen Ensembl |
|
|
rs1211460842 CA346893369 |
182 | V>F | No |
ClinGen gnomAD |
|
|
rs777325744 CA1665045 |
183 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370150458 CA47577333 |
184 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs1206295730 CA346893355 |
184 | T>S | No |
ClinGen gnomAD |
|
|
CA1665044 rs757921460 COSM1293990 |
185 | I>V | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1350579884 CA346893343 |
186 | M>T | No |
ClinGen gnomAD |
|
|
CA346893334 rs1259414212 |
187 | G>D | No |
ClinGen gnomAD |
|
|
CA346893333 rs1259414212 |
187 | G>V | No |
ClinGen gnomAD |
|
|
rs752282163 CA346893326 |
188 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189687024 CA346893303 |
192 | G>R | No |
ClinGen TOPMed |
|
|
COSM1215669 rs760923762 CA1665041 |
194 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA346893281 rs1319039010 |
195 | T>K | No |
ClinGen gnomAD |
|
|
rs1382685654 CA346893269 |
197 | L>F | No |
ClinGen gnomAD |
|
|
rs1174180657 CA346893267 |
197 | L>P | No |
ClinGen gnomAD |
|
|
rs1435113359 CA346893258 |
198 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1665039 rs781465997 |
201 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1665038 rs762464320 |
201 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879255991 CA47577280 |
204 | Q>R | No |
ClinGen Ensembl |
|
|
CA1665037 rs144403886 |
205 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs112257184 CA47577276 |
205 | V>L | No |
ClinGen Ensembl |
|
|
CA1665036 rs768786876 |
206 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1665035 rs763154599 |
206 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415596715 CA346893156 |
207 | A>E | No |
ClinGen TOPMed |
|
|
CA346893163 rs1444712250 |
207 | A>T | No |
ClinGen gnomAD |
|
|
CA1665034 rs770105219 |
208 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770105219 CA1665033 |
208 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA346893113 rs1213586117 |
211 | G>R | No |
ClinGen gnomAD |
|
|
rs745618683 CA1665032 |
212 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1665031 rs781108226 |
213 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1665030 rs770764661 |
214 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs200628534 CA47577228 |
214 | T>S | No |
ClinGen 1000Genomes |
|
|
rs1307440837 CA346893063 |
215 | Q>P | No |
ClinGen TOPMed |
|
|
CA47577227 rs189209598 |
216 | H>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA47577224 rs992505499 |
219 | A>S | No |
ClinGen gnomAD |
|
|
CA346892981 rs1485734725 |
221 | L>F | No |
ClinGen TOPMed |
|
|
CA346892983 rs1485734725 |
221 | L>V | No |
ClinGen TOPMed |
|
|
CA346892736 rs1417778077 |
225 | P>L | No |
ClinGen gnomAD |
|
|
CA47576225 rs150103708 |
226 | S>C | No |
ClinGen ESP |
|
|
CA346892692 rs1162978513 |
228 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1023709084 CA47576221 |
228 | E>V | No |
ClinGen TOPMed |
|
|
CA346892622 rs201059519 |
230 | I>R | No |
ClinGen gnomAD |
|
|
CA47576208 rs201059519 |
230 | I>T | No |
ClinGen gnomAD |
|
|
rs748903563 CA1665006 |
230 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1021833 rs1181406096 CA346892612 |
231 | T>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1436281271 CA346892565 |
233 | L>V | No |
ClinGen gnomAD |
|
|
rs757646038 CA1665004 |
236 | P>Q | No |
ClinGen ExAC |
|
|
rs752020711 CA1665003 |
238 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346892431 rs1278716264 |
239 | A>S | No |
ClinGen gnomAD |
|
|
CA1665002 rs764665140 |
239 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346892407 rs759042648 |
240 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs183084293 CA47576194 |
240 | A>S | No |
ClinGen 1000Genomes |
|
|
rs759042648 CA1665001 |
240 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346892351 rs1326083591 |
242 | S>* | No |
ClinGen gnomAD |
|
|
CA346892302 rs1391584407 CA346892305 |
244 | M>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA346892321 rs1347400590 |
244 | M>V | No |
ClinGen TOPMed |
|
|
CA346892276 rs1163439457 |
246 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402917657 CA346892169 |
249 | A>D | No |
ClinGen gnomAD |
|
|
CA346892185 rs1558567223 |
249 | A>T | No |
ClinGen Ensembl |
|
|
CA1664998 rs759541361 |
250 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs752708031 CA1665000 |
250 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1664999 rs200943293 |
250 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346892117 rs1255145564 |
251 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346892121 rs1255145564 |
251 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1664997 rs776877313 |
253 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346892055 COSM222693 rs1194451726 |
253 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA346892023 rs780783851 |
254 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664996 rs780783851 |
254 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664994 rs377246242 |
256 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA47576160 rs999743445 |
257 | L>S | No |
ClinGen TOPMed |
|
|
rs1221864323 CA346891900 |
258 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346891898 rs1221864323 |
258 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA47576153 rs936188847 |
259 | V>G | No |
ClinGen Ensembl |
|
|
CA1664992 rs368852946 |
261 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346891759 rs1303716965 |
262 | D>G | No |
ClinGen gnomAD |
|
|
CA346891783 rs1400076304 |
262 | D>H | No |
ClinGen TOPMed |
|
|
CA346891725 rs1334019221 |
263 | D>G | No |
ClinGen TOPMed |
|
|
CA346891658 rs1573887951 |
265 | V>G | No |
ClinGen Ensembl |
|
|
CA1664990 rs376663915 |
266 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1433586722 CA346891652 |
266 | M>V | No |
ClinGen gnomAD |
|
|
CA346891541 rs1386212125 |
268 | Q>H | No |
ClinGen TOPMed |
|
|
CA1664989 rs748770128 |
271 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397227374 CA346891458 |
272 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1664988 rs779733454 |
272 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs267599413 CA1664986 |
273 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1664987 rs267599413 |
273 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA47576133 rs201670492 |
274 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA1664985 rs141472748 |
274 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1664984 rs147847552 |
275 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147847552 CA346891352 |
275 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1664983 rs369602292 |
276 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241459392 CA346891295 |
277 | K>T | No |
ClinGen gnomAD |
|
|
rs1213497232 CA346891263 |
278 | D>G | No |
ClinGen gnomAD |
|
|
CA47576125 rs900696933 |
280 | Q>* | No |
ClinGen TOPMed |
|
|
rs141493873 CA1664981 |
280 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA47574105 rs1026756213 |
282 | P>R | No |
ClinGen TOPMed |
|
|
CA1664953 rs942195771 |
285 | L>V | No |
ClinGen Ensembl |
|
|
rs1197124344 CA346889238 |
286 | A>D | No |
ClinGen TOPMed |
|
|
CA1664952 rs756188332 |
286 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346889211 rs1168602849 |
287 | V>A | No |
ClinGen gnomAD |
|
|
CA1664950 rs755211327 |
287 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47574075 rs755211327 |
287 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47574062 rs1036916293 |
291 | D>E | No |
ClinGen TOPMed |
|
|
rs777474408 CA47574063 |
291 | D>V | No |
ClinGen gnomAD |
|
|
CA1664948 rs751349965 |
294 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461224887 CA346888995 |
297 | P>T | No |
ClinGen TOPMed |
|
|
CA346888891 rs1249184534 |
301 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs2576709 CA47574028 |
307 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346888793 rs1339114983 |
308 | D>G | No |
ClinGen gnomAD |
|
|
CA346888801 rs769363395 |
308 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664943 rs769363395 |
308 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339114983 CA346888797 |
308 | D>V | No |
ClinGen gnomAD |
|
|
CA346888700 rs1392238531 |
314 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1483887585 CA346888683 |
315 | G>A | No |
ClinGen TOPMed |
|
|
CA346888690 rs1372864953 |
315 | G>R | No |
ClinGen gnomAD |
|
|
CA1664941 rs201074119 |
319 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346888601 rs1417314765 |
320 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1488795163 CA346888566 |
322 | P>R | No |
ClinGen TOPMed |
|
|
rs770542280 CA1664940 |
322 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1664939 rs371039260 |
324 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937888950 CA47573976 |
325 | A>T | No |
ClinGen TOPMed |
|
|
rs190994798 CA1664937 |
326 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749726425 CA1664936 |
327 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200247481 CA1664935 |
327 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200247481 CA47573970 |
327 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs540448511 | 328 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755036864 CA1664907 |
329 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346887284 rs1347766522 |
330 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201366863 CA47571978 |
332 | M>R | No |
ClinGen Ensembl |
|
|
CA346887195 rs765736523 |
333 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664905 rs765736523 |
333 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47571941 rs989478739 |
335 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA346887094 rs1443192163 |
336 | E>G | No |
ClinGen gnomAD |
|
|
rs1372077950 CA346887052 |
337 | A>E | No |
ClinGen gnomAD |
|
|
CA1664902 rs148184724 |
341 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373125144 CA346886919 |
342 | A>E | No |
ClinGen gnomAD |
|
|
rs1476127852 CA346886921 |
342 | A>P | No |
ClinGen gnomAD |
|
|
CA346886922 COSM1668941 rs1476127852 |
342 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA346886862 rs1194586184 |
344 | M>I | No |
ClinGen gnomAD |
|
|
rs1374168726 CA346886891 |
344 | M>L | No |
ClinGen TOPMed |
|
|
rs1031243314 CA47571925 |
346 | E>Q | No |
ClinGen TOPMed |
|
|
CA346886699 rs1573870441 COSM1565536 |
350 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1441213920 CA346886629 |
352 | N>K | No |
ClinGen gnomAD |
|
|
CA47571913 rs978214306 |
352 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1664900 rs184038046 |
353 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1003574444 CA47571907 |
354 | P>L | No |
ClinGen TOPMed |
|
|
CA346886554 rs1389789164 |
355 | V>L | No |
ClinGen TOPMed |
|
|
CA346886525 rs1336638574 |
356 | E>G | No |
ClinGen TOPMed |
|
|
rs1306536353 CA346886542 |
356 | E>K | No |
ClinGen TOPMed |
|
|
rs770271809 CA1664899 |
357 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA346886502 rs1242050476 |
357 | G>R | No |
ClinGen TOPMed |
|
|
CA1664897 rs201913128 |
358 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251943389 CA346886467 |
358 | T>I | No |
ClinGen gnomAD |
|
|
CA346886463 rs1251943389 |
358 | T>R | No |
ClinGen gnomAD |
|
|
rs376136410 CA47571884 |
360 | I>T | No |
ClinGen ESP |
|
|
rs951569892 CA47571876 |
361 | E>* | No |
ClinGen Ensembl |
|
|
CA346886395 rs770879086 |
361 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1664895 rs747138029 |
362 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759814747 CA1664894 |
365 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA346886162 rs1411275990 |
368 | R>T | No |
ClinGen gnomAD |
|
|
rs774752984 CA47571837 |
369 | G>D | No |
ClinGen TOPMed |
|
|
rs748310392 CA1664869 |
370 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs148814966 CA1664868 |
372 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1014445323 CA47570125 |
372 | T>S | No |
ClinGen TOPMed |
|
|
CA346885568 rs1450959688 |
373 | T>A | No |
ClinGen gnomAD |
|
|
CA1664867 rs768519104 |
374 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA47570100 rs369189013 |
375 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1351070500 CA346885552 |
376 | I>L | No |
ClinGen gnomAD |
|
|
rs199614226 CA47570097 |
376 | I>T | No |
ClinGen 1000Genomes |
|
|
CA1664865 rs779823642 |
381 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304917264 CA346885431 |
382 | R>T | No |
ClinGen TOPMed |
|
|
rs1237463501 CA346885400 |
383 | K>N | No |
ClinGen gnomAD |
|
|
CA1664864 rs756142503 |
384 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1235014180 CA346885371 |
385 | S>A | No |
ClinGen gnomAD |
|
|
rs749034004 CA47570086 |
385 | S>C | No |
ClinGen gnomAD |
|
|
rs749886153 CA1664863 |
386 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1437885705 CA346885356 |
386 | V>F | No |
ClinGen gnomAD |
|
|
rs1558556216 CA346885335 |
388 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 390 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780622224 CA1664862 |
392 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs753263909 CA1664861 |
394 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763760549 COSM1021830 CA1664860 |
397 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763760549 CA346884315 |
397 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1664858 rs759800202 COSM1021829 |
397 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1021831 rs763760549 CA1664859 |
397 | R>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1397038880 CA346884294 |
398 | L>F | No |
ClinGen gnomAD |
|
|
rs1194350873 CA346884256 |
399 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1347878226 CA346884269 |
399 | M>T | No |
ClinGen gnomAD |
|
|
rs375231978 CA47570069 |
404 | G>* | No |
ClinGen ESP TOPMed |
|
|
rs1244935540 CA346884111 |
407 | I>M | No |
ClinGen gnomAD |
|
|
rs1573863801 CA346884115 |
407 | I>T | No |
ClinGen Ensembl |
|
|
CA346884104 rs1278799294 |
408 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs371921856 CA1664854 |
410 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371921856 CA47570037 |
410 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346884044 rs1236604138 |
411 | Y>F | No |
ClinGen gnomAD |
|
|
rs1247309678 CA346883943 |
416 | V>L | No |
ClinGen TOPMed |
|
|
rs368780453 CA1664852 |
422 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA47570000 rs1044567582 |
423 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs949729255 CA47569995 |
423 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA346883803 rs1044567582 |
423 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA346883794 rs1242783083 |
424 | L>V | No |
ClinGen TOPMed |
|
|
rs1364817179 CA346883782 |
425 | P>S | No |
ClinGen gnomAD |
|
|
CA1664851 rs200763693 |
427 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554328760 CA47569968 |
428 | G>V | No |
ClinGen TOPMed |
|
|
rs916943360 CA47569958 |
431 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1297969481 CA346883606 |
432 | L>P | No |
ClinGen gnomAD |
|
|
rs774689911 CA1664850 |
434 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769038174 CA1664849 |
435 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs776517611 CA1664824 |
441 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs568047782 CA1664823 |
441 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346883042 rs1217307201 |
443 | V>I | No |
ClinGen gnomAD |
|
|
CA346883002 rs1313863174 |
445 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746506549 CA1664822 |
445 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313863174 CA346882970 |
445 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777327767 CA1664821 |
446 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA346882908 COSM1668940 rs1377248084 |
447 | R>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs199545036 CA47569520 |
452 | E>G | No |
ClinGen 1000Genomes |
|
|
CA1664819 rs747791518 |
453 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1664820 rs757846883 |
453 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs778465167 CA1664818 |
454 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756473677 CA1664817 |
456 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346882576 rs1163814915 |
457 | Q>H | No |
ClinGen gnomAD |
|
|
CA1664816 rs750869556 |
459 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346882496 rs1178827057 |
460 | L>V | No |
ClinGen gnomAD |
|
|
CA1664815 rs768127035 |
462 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs371808645 CA1664813 |
463 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1664814 rs548247885 |
463 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346882421 rs1470214589 |
464 | E>Q | No |
ClinGen gnomAD |
|
|
rs764176987 CA1664812 |
465 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346882367 rs1244529776 |
466 | K>R | No |
ClinGen gnomAD |
|
|
rs762964479 CA1664811 |
467 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664809 rs765417017 |
467 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765417017 CA1664810 |
467 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759302667 CA1664808 |
471 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664807 rs149491282 |
472 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346882247 rs1360964483 |
472 | E>K | No |
ClinGen TOPMed |
|
|
rs932481385 CA47569441 |
473 | A>S | No |
ClinGen Ensembl |
|
|
CA1664805 rs760535307 |
474 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346882112 rs1447163680 |
477 | A>G | No |
ClinGen TOPMed |
|
|
rs773032245 CA1664804 |
477 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778608709 CA1664803 |
478 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778608709 CA1664801 |
478 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146994235 CA1664800 |
478 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778608709 CA1664802 |
478 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746231947 CA1664799 |
479 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664798 rs781636398 |
480 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346882044 rs1438683426 |
481 | Y>H | No |
ClinGen gnomAD |
|
|
CA47569379 rs565513631 |
483 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1558554536 CA346882012 |
484 | L>I | No |
ClinGen Ensembl |
|
|
rs1384373936 CA346882001 |
485 | L>P | No |
ClinGen TOPMed |
|
|
CA346881956 rs1288570269 |
488 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382951330 CA346881922 |
491 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 492 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1664794 rs758473064 |
492 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765482157 CA1664793 |
493 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664790 rs188291557 |
493 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188291557 CA1664791 |
493 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765482157 CA1664792 |
493 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47569303 rs1024942827 |
496 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346881737 rs1237890572 |
497 | R>S | No |
ClinGen TOPMed |
|
|
CA346881718 rs1259583933 |
498 | K>R | No |
ClinGen TOPMed |
|
|
CA346881654 rs1350811250 |
500 | Q>R | No |
ClinGen TOPMed |
|
|
CA346881623 rs1384986870 |
501 | I>M | No |
ClinGen gnomAD |
|
|
CA1664789 rs559749584 |
501 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1276133603 CA346881613 |
502 | P>L | No |
ClinGen TOPMed |
|
|
CA1664788 rs138931176 COSM1021825 |
502 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1418788655 CA346881576 |
504 | K>R | No |
ClinGen gnomAD |
|
|
CA346881560 rs773173803 |
505 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773173803 CA1664787 |
505 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402787845 CA346881484 |
508 | K>E | No |
ClinGen gnomAD |
|
|
rs370762160 CA1664785 |
512 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA47569243 rs1032577042 |
514 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1664782 rs748892975 |
514 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1664783 rs768288317 |
514 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265895217 CA346881354 |
515 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs377518971 CA1664781 |
516 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377518971 CA47569218 |
516 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346881345 rs377518971 |
516 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346881338 rs1337087774 |
517 | S>T | No |
ClinGen TOPMed |
|
|
CA1664779 rs747417399 |
520 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs772487882 CA1664759 |
524 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA1664758 rs748542786 |
525 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1285715659 CA346881080 |
525 | D>V | No |
ClinGen gnomAD |
|
|
CA1664755 rs755023580 |
526 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA346881040 rs755023580 |
526 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs749422080 CA1664754 |
527 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA47568805 rs780244053 |
527 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664753 rs780244053 |
527 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664752 rs756397184 |
529 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750664190 CA1664751 |
529 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262128501 CA346880963 |
530 | A>D | No |
ClinGen TOPMed |
|
|
CA346880965 rs1186178411 |
530 | A>S | No |
ClinGen TOPMed |
|
|
rs1165371897 CA346880943 |
531 | I>V | No |
ClinGen gnomAD |
|
|
rs865891886 CA346880875 |
534 | I>L | No |
ClinGen gnomAD |
|
|
rs757098696 CA1664749 |
534 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865891886 CA47568769 |
534 | I>V | No |
ClinGen gnomAD |
|
|
CA1664748 rs373287573 |
535 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164876284 CA346880803 |
536 | D>G | No |
ClinGen TOPMed |
|
|
rs1271086288 CA346880783 |
537 | T>A | No |
ClinGen gnomAD |
|
|
rs1459173455 CA346880775 |
537 | T>N | No |
ClinGen gnomAD |
|
|
CA1664747 rs764166490 |
539 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238842073 CA346880704 |
539 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 540 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1664746 rs762529462 |
540 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346880566 rs1289133628 |
543 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs764975574 CA1664744 |
547 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980777931 CA47568693 |
547 | E>G | No |
ClinGen Ensembl |
|
|
CA47568701 rs868775801 |
547 | E>K | No |
ClinGen Ensembl |
|
|
CA1664742 rs776356654 |
549 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs117850281 CA1664743 |
549 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs992708634 CA346880298 |
553 | V>L | No |
ClinGen TOPMed |
|
|
rs992708634 CA47568623 |
553 | V>M | No |
ClinGen TOPMed |
|
|
rs11357 VAR_014883 CA1664740 |
556 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1443856977 CA346880199 |
557 | S>N | No |
ClinGen gnomAD |
|
|
CA1664739 rs748572675 |
557 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs375073816 CA1664712 |
570 | V>F | No |
ClinGen ESP ExAC |
|
|
rs781248800 CA1664711 |
572 | Y>F | No |
ClinGen ExAC |
|
|
CA346877808 rs1314931229 |
573 | G>D | No |
ClinGen TOPMed |
|
|
rs1477656497 CA346877800 |
574 | F>L | No |
ClinGen gnomAD |
|
|
rs1244844172 CA346877791 |
574 | F>Y | No |
ClinGen gnomAD |
|
|
CA1664710 rs771241825 |
575 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1664709 rs746793955 |
579 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1664708 rs777643389 |
580 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192676171 CA1664707 |
581 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 582 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558549489 CA346877434 |
585 | S>L | No |
ClinGen Ensembl |
|
|
rs1026045725 CA47565819 |
586 | A>T | No |
ClinGen Ensembl |
|
|
rs1573851381 CA346877381 |
588 | K>E | No |
ClinGen Ensembl |
|
|
rs1220377595 CA346877321 |
589 | K>N | No |
ClinGen gnomAD |
|
| rs758743090 | 590 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1664703 rs754411733 |
592 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1375491523 CA346877217 |
592 | K>N | No |
ClinGen TOPMed |
|
|
CA346877244 rs1341486971 |
592 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs199962830 CA1664701 |
593 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199962830 CA1664702 |
593 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1664700 rs760310815 |
596 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1664699 rs750092362 |
597 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775945671 CA1664696 |
599 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664697 rs763340618 |
599 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764394706 CA1664698 COSM1021824 |
599 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1664695 rs770383038 |
600 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1664694 rs79235708 |
601 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186600074 CA1664692 |
601 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186600074 CA1664693 |
601 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747169759 CA346876804 |
602 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664691 rs747169759 |
602 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 603 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA47565726 rs1007437891 |
605 | D>V | No |
ClinGen Ensembl |
|
|
rs1208833850 CA346909470 |
607 | Q>R | No |
ClinGen gnomAD |
|
|
rs1430199539 CA346909426 |
612 | S>R | No |
ClinGen Ensembl |
|
|
CA346909418 rs1573851019 |
613 | R>K | No |
ClinGen Ensembl |
|
|
rs778706297 CA1664687 |
614 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664686 rs755014625 |
615 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201161115 CA1664685 |
616 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213111920 CA346909381 |
616 | C>Y | No |
ClinGen gnomAD |
|
|
CA1664683 rs779561377 |
617 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1303598712 CA346909356 |
618 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1303598712 CA346909358 |
618 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA47608866 rs1051567960 |
620 | E>D | No |
ClinGen Ensembl |
|
|
rs146093290 CA1664682 |
620 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1664681 rs375567319 |
622 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573850841 CA346909293 |
623 | V>I | No |
ClinGen Ensembl |
|
|
rs980942551 CA47606547 |
625 | E>* | No |
ClinGen gnomAD |
|
|
CA1664666 rs747956777 |
625 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1664665 COSM4141168 rs774133768 |
626 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA346908884 rs768352753 |
627 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1664663 rs768352753 |
627 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA47606496 rs948249524 |
628 | I>T | No |
ClinGen Ensembl |
|
|
rs1438493723 CA346908867 |
628 | I>V | No |
ClinGen gnomAD |
|
|
CA1664662 rs749204599 |
629 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1250481666 CA346908853 |
629 | L>V | No |
ClinGen gnomAD |
|
|
rs1221195792 CA346908749 |
633 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1221195792 CA346908747 |
633 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1664660 rs755593076 |
634 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1664661 rs779889264 |
634 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs779889264 CA346908743 |
634 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 636 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558544922 CA346908694 |
636 | E>K | No |
ClinGen Ensembl |
|
|
CA346908643 rs1407016860 |
637 | G>E | No |
ClinGen TOPMed |
|
|
rs1333601688 CA346908658 |
637 | G>R | No |
ClinGen TOPMed |
|
|
rs371186085 CA1664659 |
638 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388434076 CA346908614 |
639 | K>E | No |
ClinGen gnomAD |
|
|
rs756969116 CA1664657 |
641 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751176152 CA1664656 |
642 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765578165 CA1664655 |
645 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755320171 CA1664654 |
646 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1664653 rs754327579 |
647 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361532728 CA346908409 |
647 | R>S | No |
ClinGen gnomAD |
|
|
rs1573840711 CA346908394 |
648 | V>G | No |
ClinGen Ensembl |
|
|
rs1281012316 CA346908363 |
650 | K>N | No |
ClinGen TOPMed |
|
|
CA346908357 rs1268583971 |
651 | G>E | No |
ClinGen gnomAD |
|
|
CA1664652 rs767030961 |
652 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1166491417 CA346908331 |
654 | E>Q | No |
ClinGen gnomAD |
|
|
rs1259406723 CA346908296 |
655 | K>I | No |
ClinGen Ensembl |
|
| TCGA novel | 657 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770359991 | 658 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201850533 CA1664644 COSM1021823 |
659 | F>C | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA47606416 rs573048497 |
659 | F>I | No |
ClinGen 1000Genomes TOPMed |
|
| rs770359991 | 659 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1664645 rs201850533 |
659 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346908184 rs1312716937 |
660 | K>* | No |
ClinGen gnomAD |
|
|
rs1300447760 CA346908157 |
661 | L>P | No |
ClinGen gnomAD |
|
|
CA1664641 rs762071712 COSM1239487 |
663 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1664640 rs774462033 |
663 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA47606360 rs774462033 |
663 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382222740 CA346908101 |
665 | G>R | No |
ClinGen gnomAD |
|
|
rs141623661 CA1664638 |
666 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346908055 rs1015232206 |
667 | V>I | No |
ClinGen TOPMed |
|
|
rs1015232206 CA47606341 |
667 | V>L | No |
ClinGen TOPMed |
|
|
CA1664636 rs769781356 |
671 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346907852 rs1185659753 |
672 | S>L | No |
ClinGen Ensembl |
|
|
CA1664612 rs770387991 |
673 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424525403 CA346907827 |
674 | T>N | No |
ClinGen gnomAD |
|
|
rs1301625663 CA346907815 |
675 | S>* | No |
ClinGen TOPMed |
|
|
CA1664610 rs147365663 |
676 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 677 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771676649 CA1664609 |
677 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1258564567 CA346907789 |
677 | K>R | No |
ClinGen gnomAD |
|
|
CA1664608 rs749656515 |
678 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750924622 CA1664606 |
679 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776497065 CA1664603 |
680 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs776497065 CA1664604 |
680 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM399467 CA47605685 rs912996866 |
681 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1664602 rs751650838 |
682 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA346907706 rs1403111323 |
683 | I>N | No |
ClinGen gnomAD |
|
|
rs1403111323 CA346907704 |
683 | I>T | No |
ClinGen gnomAD |
|
|
rs764375128 CA1664601 |
683 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346907694 rs763017988 |
684 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA1664600 rs763017988 |
684 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA346907697 rs1558543337 |
684 | S>P | No |
ClinGen Ensembl |
|
|
rs1394751061 CA346907679 |
685 | I>S | No |
ClinGen gnomAD |
|
|
CA1664599 rs35589399 |
685 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1573837542 CA346907663 |
687 | K>E | No |
ClinGen Ensembl |
|
|
rs770724724 CA47605640 |
687 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377348399 CA1664598 |
688 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA346907638 rs912448825 CA47605616 |
689 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1664596 rs776515596 |
689 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs140911959 CA1664595 |
690 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469877697 CA346907591 |
692 | C>Y | No |
ClinGen gnomAD |
|
|
CA346907573 rs975088632 |
693 | G>D | No |
ClinGen gnomAD |
|
|
rs975088632 CA47605591 |
693 | G>V | No |
ClinGen gnomAD |
|
|
CA1664593 rs34174245 |
695 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs34174245 CA47605575 |
695 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA47605563 rs1027221468 |
696 | L>V | No |
ClinGen TOPMed |
|
|
rs1291745611 CA346907527 |
697 | D>H | No |
ClinGen gnomAD |
|
|
CA1664592 rs771628095 |
698 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1664591 rs747756246 |
700 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs575647946 CA1664589 |
701 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA346907452 rs1376950182 |
702 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770255108 CA1664588 |
703 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1385077937 CA346907405 |
704 | Q>* | No |
ClinGen TOPMed |
|
|
rs1325953351 CA346907359 |
706 | G>E | No |
ClinGen gnomAD |
|
|
rs781761253 CA1664586 |
708 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1558542967 CA346907289 |
709 | I>M | No |
ClinGen Ensembl |
|
|
CA47605544 COSM1408647 rs555920826 |
711 | C>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs757773137 CA1664584 |
713 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs963931794 CA47605503 |
715 | K>R | No |
ClinGen TOPMed |
|
|
rs777654790 CA1664582 |
719 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1380975899 CA346907069 |
719 | A>T | No |
ClinGen gnomAD |
|
|
rs765483422 CA1664579 |
721 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs766332659 CA1664576 |
723 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146855736 CA1664575 |
724 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1664574 rs373573131 |
725 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1664572 rs761452885 |
727 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs559634710 CA1664573 |
727 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346906855 rs1349184535 |
728 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 728 | F>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P46199
4 regional properties for P46199
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Translational (tr)-type GTP-binding domain | 178 - 348 | IPR000795 |
| domain | Small GTP-binding protein domain | 181 - 304 | IPR005225 |
| domain | Translation initiation factor IF- 2, domain 3 | 508 - 606 | IPR023115 |
| domain | Translation initiation factor IF-2, domain II | 354 - 448 | IPR044145 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
6 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. |
| ribosomal small subunit binding | Binding to a small ribosomal subunit. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| translation factor activity, RNA binding | Functions during translation by binding to RNA during polypeptide synthesis at the ribosome. |
| translation initiation factor activity | Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial translational initiation | The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA. |
| regulation of translational initiation | Any process that modulates the frequency, rate or extent of translational initiation. |
| ribosome disassembly | The disaggregation of a ribosome into its constituent components; includes the dissociation of ribosomal subunits. |
| translational initiation | The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNQKLLKLEN | LLRFHTIYRQ | LHSLCQRRAL | RQWRHGFSSA | YPVWTAQLCA | WPWPTDVLTG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AALSQYRLLV | TKKEEGPWKS | QLSSTKSKKV | VEVWIGMTIE | ELARAMEKNT | DYVYEALLNT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DIDIDSLEAD | SHLDEVWIKE | VITKAGMKLK | WSKLKQDKVR | KNKDAVRRPQ | ADPALLTPRS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PVVTIMGHVD | HGKTTLLDKF | RKTQVAAVET | GGITQHIGAF | LVSLPSGEKI | TFLDTPGHAA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FSAMRARGAQ | VTDIVVLVVA | ADDGVMKQTV | ESIQHAKDAQ | VPIILAVNKC | DKAEADPEKV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKELLAYDVV | CEDYGGDVQA | VPVSALTGDN | LMALAEATVA | LAEMLELKAD | PNGPVEGTVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESFTDKGRGL | VTTAIIQRGT | LRKGSVLVAG | KCWAKVRLMF | DENGKTIDEA | YPSMPVGITG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WRDLPSAGEE | ILEVESEPRA | REVVDWRKYE | QEQEKGQEDL | KIIEEKRKEH | KEAHQKAREK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YGHLLWKKRS | ILRFLERKEQ | IPLKPKEKRE | RDSNVLSVII | KGDVDGSVEA | ILNIIDTYDA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SHECELELVH | FGVGDVSAND | VNLAETFDGV | IYGFNVNAGN | VIQQSAAKKG | VKIKLHKIIY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RLVEDLQEEL | SSRLPCAVEE | HPVGEASILA | TFSVTEGKKK | VPVAGCRVQK | GQLEKQKKFK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LTRNGHVIWK | GSLTSLKHHK | DDISIVKTGM | DCGLSLDEDN | MEFQVGDRIV | CYEEKQIQAK |
| TSWDPGF |