Q9NPH2
PR
Gene name |
ISYNA1 (INO1) |
Protein name |
Inositol-3-phosphate synthase 1 |
Names |
IPS 1, Myo-inositol 1-phosphate synthase, MI-1-P synthase, MIP synthase, hIPS, Myo-inositol 1-phosphate synthase A1, hINO1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51477 |
EC number |
5.5.1.4: Intramolecular lyases |
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 Q9NPH2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NPH2-F1 | Predicted | AlphaFoldDB |
501 variants for Q9NPH2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs765944562 CA9312280 |
2 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404829294 rs760310639 |
4 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9312279 rs760310639 |
4 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361188695 CA404829286 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs202247541 CA9312278 |
5 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA306202734 rs983100641 |
7 | F>L | No |
ClinGen gnomAD |
|
|
rs1163905624 CA404829152 |
9 | V>D | No |
ClinGen gnomAD |
|
|
rs199935135 CA9312276 |
10 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9312275 rs770052406 |
11 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9312274 rs770052406 |
11 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745925925 CA9312273 |
12 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9312272 rs781625747 |
13 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1211775938 CA404829088 |
14 | V>M | No |
ClinGen TOPMed |
|
|
CA404829068 rs1192348544 |
15 | V>F | No |
ClinGen gnomAD |
|
|
rs1192348544 CA404829070 |
15 | V>I | No |
ClinGen gnomAD |
|
|
CA9312270 rs747193488 |
17 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306202714 rs747193488 |
17 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404829004 rs1213403387 |
18 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1213403387 CA404829006 |
18 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1259514793 CA404828998 |
19 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758747786 CA9312268 |
21 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404828942 rs1306473301 |
22 | E>Q | No |
ClinGen gnomAD |
|
|
rs754550223 CA9312265 |
23 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9312266 rs779370575 |
23 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA306202687 rs1018181999 |
25 | Y>C | No |
ClinGen gnomAD |
|
|
rs1018181999 CA404828868 |
25 | Y>F | No |
ClinGen gnomAD |
|
|
CA9312263 rs765858799 |
26 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1300187084 CA404828837 |
26 | E>A | No |
ClinGen gnomAD |
|
|
CA404828792 rs767258993 |
28 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767258993 CA9312260 |
28 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9312262 rs750054700 |
28 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1193404267 CA404828733 |
31 | R>P | No |
ClinGen gnomAD |
|
|
CA404828742 rs1403053787 |
31 | R>S | No |
ClinGen TOPMed |
|
|
rs1220558119 CA404828690 |
33 | S>G | No |
ClinGen gnomAD |
|
|
CA9312257 rs768706951 |
34 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1480088568 CA404828631 |
35 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs141817482 CA306202661 |
36 | G>A | No |
ClinGen ESP |
|
|
rs758618126 CA306202653 |
37 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9312255 rs776585443 |
39 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404828532 rs776585443 |
39 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770992235 CA9312254 |
40 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404827924 rs1377355361 |
42 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9312228 rs749802951 |
43 | P>H | No |
ClinGen ExAC |
|
|
rs755641367 CA9312226 |
45 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA306202599 rs1024898750 |
45 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1235413298 CA404827867 |
46 | T>P | No |
ClinGen gnomAD |
|
|
rs1332901087 CA404827841 |
47 | R>L | No |
ClinGen gnomAD |
|
|
CA9312225 rs745374432 |
49 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404827811 rs1328714846 |
49 | T>I | No |
ClinGen gnomAD |
|
|
rs1382146432 CA404827803 |
50 | F>L | No |
ClinGen gnomAD |
|
|
CA9312224 rs562850563 |
51 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1167514892 CA404827788 |
52 | T>I | No |
ClinGen gnomAD |
|
|
CA404827780 rs1416632050 |
53 | A>T | No |
ClinGen gnomAD |
|
|
rs751205366 CA9312222 |
54 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404827769 rs1170774880 |
54 | R>W | No |
ClinGen gnomAD |
|
|
CA404827744 rs1254691036 |
56 | V>L | No |
ClinGen gnomAD |
|
|
rs542513210 CA9312220 |
58 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9312218 rs765208163 |
58 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs542513210 CA9312219 |
58 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1568367727 CA404827716 |
59 | L>F | No |
ClinGen Ensembl |
|
|
rs1272707453 CA404827715 |
59 | L>H | No |
ClinGen gnomAD |
|
|
CA404827697 rs1187969676 |
61 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1187969676 CA404827699 |
61 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1341633773 CA404827680 |
63 | L>F | No |
ClinGen gnomAD |
|
|
rs773354201 CA9312216 |
66 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1471957289 CA404827615 |
68 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404827589 rs1465341076 |
70 | N>S | No |
ClinGen gnomAD |
|
|
rs1411272790 CA404827497 |
76 | A>S | No |
ClinGen gnomAD |
|
|
CA404827503 rs1411272790 |
76 | A>T | No |
ClinGen gnomAD |
|
|
rs1416818948 CA404827487 |
76 | A>V | No |
ClinGen gnomAD |
|
|
rs1396749911 CA404827444 |
79 | L>P | No |
ClinGen gnomAD |
|
|
CA9312213 rs774522812 |
84 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs887542856 CA306202523 |
85 | L>S | No |
ClinGen TOPMed |
|
|
rs769054954 CA9312212 |
85 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205553253 CA404827341 |
86 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs866091325 CA306202504 |
87 | W>* | No |
ClinGen Ensembl |
|
|
rs1271013314 CA404827333 |
87 | W>R | No |
ClinGen gnomAD |
|
|
CA404827313 rs1195258774 |
88 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1306354141 CA404827279 |
90 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1306354141 CA404827277 |
90 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404827278 rs1306354141 |
90 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404827266 rs1256320931 |
91 | S>N | No |
ClinGen gnomAD |
|
|
rs1232721422 CA404827257 |
91 | S>R | No |
ClinGen gnomAD |
|
|
rs1370782976 CA404827247 |
92 | G>D | No |
ClinGen gnomAD |
|
|
CA9312211 rs749647776 |
93 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1040898345 CA306202502 |
93 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA306201040 rs796373956 |
96 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1158257664 CA404826512 |
97 | N>S | No |
ClinGen gnomAD |
|
|
rs1475639282 CA404826460 CA404826462 |
99 | Y>* | No |
ClinGen gnomAD |
|
|
CA404826431 rs1259735138 |
101 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404826434 rs1259735138 |
101 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9312193 rs763014105 |
102 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1218554866 CA404826401 |
103 | T>I | No |
ClinGen gnomAD |
|
|
CA404826412 rs1243132785 |
103 | T>P | No |
ClinGen gnomAD |
|
|
CA404826387 rs1315565839 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
rs1283981164 CA404826379 |
105 | A>T | No |
ClinGen gnomAD |
|
|
CA9312192 rs775940285 |
105 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs910807563 CA306200982 |
108 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404826338 rs777248875 |
109 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9312189 rs777248875 |
109 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404826337 rs1290614221 |
109 | S>N | No |
ClinGen gnomAD |
|
|
rs917637479 CA306200979 |
114 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA306200976 rs11552754 |
115 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404826261 rs1600398731 |
115 | E>G | No |
ClinGen Ensembl |
|
|
rs11552754 CA9312186 |
115 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404826182 rs1162893986 |
119 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1420309976 CA404826164 |
120 | F>L | No |
ClinGen gnomAD |
|
|
rs1389145187 CA404826142 |
121 | V>L | No |
ClinGen TOPMed |
|
|
CA404826123 rs1241915245 |
122 | P>L | No |
ClinGen gnomAD |
|
|
CA404826128 rs1485165297 |
122 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9312184 rs747706315 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404826043 rs1307615596 |
128 | P>S | No |
ClinGen gnomAD |
|
|
rs1600398520 CA404826007 |
130 | V>A | No |
ClinGen Ensembl |
|
|
rs1212759752 CA404825988 |
131 | A>E | No |
ClinGen gnomAD |
|
|
rs757391449 CA9312179 |
132 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404825931 rs1600398453 |
134 | D>A | No |
ClinGen Ensembl |
|
|
CA9312178 rs751639570 |
134 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369738821 CA9312177 |
136 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404825881 rs1355236593 |
137 | F>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs1600397932 CA404825769 |
139 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs886929409 CA306200723 |
145 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1313511186 CA404825670 |
146 | N>D | No |
ClinGen gnomAD |
|
|
CA404825632 rs1365908289 |
149 | E>G | No |
ClinGen gnomAD |
|
|
CA9312145 rs748877705 |
149 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257627865 CA404825585 |
153 | R>C | No |
ClinGen gnomAD |
|
|
CA404825582 rs1189395680 |
153 | R>H | No |
ClinGen gnomAD |
|
|
rs1258720562 CA404825515 |
159 | W>R | No |
ClinGen gnomAD |
|
|
CA9312140 rs199555469 |
160 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1568366767 CA404825492 |
160 | G>V | No |
ClinGen Ensembl |
|
|
CA404825464 rs1307693233 |
163 | E>K | No |
ClinGen gnomAD |
|
|
rs1235153786 CA404825448 |
164 | Q>* | No |
ClinGen gnomAD |
|
|
CA9312138 rs200584853 |
166 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334161508 CA404825402 |
167 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404825406 rs1334161508 |
167 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1334161508 CA404825403 |
167 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404825386 rs1383237721 |
168 | H>Q | No |
ClinGen gnomAD |
|
|
rs1387657234 CA404825380 |
169 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9312137 rs755265547 |
170 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754073061 CA9312136 |
171 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754073061 CA404825333 |
171 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404825317 rs766889926 |
173 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9312134 rs756524230 |
174 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404825309 rs756524230 |
174 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305438489 CA404825296 |
175 | R>L | No |
ClinGen TOPMed |
|
|
CA404825287 rs1333213285 |
176 | P>L | No |
ClinGen TOPMed |
|
|
CA404825291 rs1166479920 |
176 | P>S | No |
ClinGen gnomAD |
|
|
CA404825272 rs1367372187 |
178 | V>L | No |
ClinGen gnomAD |
|
|
rs762311401 CA9312131 |
180 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1207811058 CA404825223 |
181 | P>L | No |
ClinGen gnomAD |
|
|
CA404825218 rs1274106101 |
182 | E>* | No |
ClinGen gnomAD |
|
|
rs1274106101 CA404825220 |
182 | E>K | No |
ClinGen gnomAD |
|
|
rs773743984 CA9312130 |
184 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404825163 rs1283651013 |
186 | A>T | No |
ClinGen gnomAD |
|
|
CA404825143 rs1328666501 |
187 | N>T | No |
ClinGen gnomAD |
|
|
rs1182476140 CA404825118 |
188 | Q>R | No |
ClinGen gnomAD |
|
|
CA9312126 rs775096976 |
189 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA404825103 rs1483817264 |
190 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769628350 CA9312125 |
190 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM993098 rs1264697809 CA404825095 |
191 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404825077 rs529148937 |
192 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9312122 rs770779084 |
192 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9312121 rs529148937 |
192 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9312117 rs755077720 |
194 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404825059 rs1187839903 |
194 | N>S | No |
ClinGen gnomAD |
|
|
CA404825052 COSM1680804 rs1254615073 |
195 | L>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9312116 rs367647209 |
199 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192772946 CA404825004 |
200 | R>C | No |
ClinGen TOPMed |
|
|
rs1192772946 CA404825005 |
200 | R>G | No |
ClinGen TOPMed |
|
|
CA404825001 rs1196385400 |
200 | R>H | No |
ClinGen gnomAD |
|
|
rs374113839 CA404824991 |
201 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374113839 CA9312115 |
201 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356332796 CA404824979 |
202 | Q>R | No |
ClinGen gnomAD |
|
|
CA404824970 rs1372226130 |
203 | Q>* | No |
ClinGen gnomAD |
|
|
rs201941611 CA9312064 |
205 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377167361 CA9312063 |
209 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404824843 rs1247760688 |
211 | I>T | No |
ClinGen gnomAD |
|
|
CA404824846 rs1448120303 |
211 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9312062 COSM126748 rs372727131 |
212 | R>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs372727131 CA404824837 |
212 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs61743938 CA9312061 RCV000949058 |
212 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9312060 rs765285589 |
213 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs201528272 CA306200242 |
214 | F>S | No |
ClinGen TOPMed |
|
|
CA9312059 rs759653014 |
215 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404824804 rs759653014 |
215 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220117110 CA404824805 |
215 | R>W | No |
ClinGen gnomAD |
|
|
CA9312057 rs771192479 |
216 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404824765 rs1303812200 |
218 | A>T | No |
ClinGen gnomAD |
|
|
rs138096546 CA9312056 |
218 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA9312054 rs772386774 |
219 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1355181626 CA404824735 |
220 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404824709 rs1213944138 |
222 | K>E | No |
ClinGen TOPMed |
|
|
rs557048057 CA9312052 |
223 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557048057 CA9312053 |
223 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404824683 rs1486065078 |
224 | I>V | No |
ClinGen TOPMed |
|
|
rs1389967198 CA404824659 |
225 | V>G | No |
ClinGen gnomAD |
|
|
CA404824638 rs1264903280 |
227 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748834226 CA9312050 |
228 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404824601 rs1234095800 |
229 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369473497 CA9312045 |
233 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1310202835 CA404823780 |
233 | R>P | No |
ClinGen gnomAD |
|
|
rs369473497 CA9312044 |
233 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299547543 CA404823747 |
235 | C>Y | No |
ClinGen gnomAD |
|
|
CA404823708 rs1600395306 |
237 | V>G | No |
ClinGen Ensembl |
|
|
CA306200191 rs966301938 |
238 | I>T | No |
ClinGen TOPMed |
|
|
rs138624155 CA9312043 |
239 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762735088 CA9312042 |
240 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9312041 rs776787019 |
241 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408567119 CA404823641 |
242 | N>S | No |
ClinGen gnomAD |
|
|
rs1314012484 CA404823624 |
243 | D>Y | No |
ClinGen gnomAD |
|
|
CA404823554 rs371984676 |
246 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1419252465 CA404823516 |
248 | L>P | No |
ClinGen gnomAD |
|
|
rs200357380 CA9312037 |
250 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 250 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9312036 rs762160711 |
252 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404823471 rs1370973922 |
252 | I>V | No |
ClinGen TOPMed |
|
|
rs1212926800 CA404823443 |
253 | E>D | No |
ClinGen gnomAD |
|
|
CA9312016 rs375525635 |
255 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404823363 rs1164448042 |
255 | G>S | No |
ClinGen gnomAD |
|
|
rs761965694 CA9312015 |
256 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA9312013 COSM3796813 rs768859602 |
259 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1245945454 CA404823304 |
259 | S>P | No |
ClinGen gnomAD |
|
|
CA404823283 rs1478139808 |
260 | P>R | No |
ClinGen gnomAD |
|
|
rs1290686695 CA404823287 |
260 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404823251 rs1354322244 |
262 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404823236 rs1186118829 |
263 | L>P | No |
ClinGen gnomAD |
|
|
rs1306254122 CA404823220 |
264 | F>C | No |
ClinGen TOPMed |
|
|
CA404823210 rs1367856248 |
265 | A>P | No |
ClinGen gnomAD |
|
|
rs1433944131 CA404823198 |
266 | V>M | No |
ClinGen gnomAD |
|
|
rs1371186230 CA404823183 |
267 | A>T | No |
ClinGen gnomAD |
|
|
CA404823172 rs1324966462 |
267 | A>V | No |
ClinGen gnomAD |
|
|
rs986311464 CA306199998 |
268 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404823163 rs1389351754 |
268 | S>N | No |
ClinGen gnomAD |
|
|
CA9312006 rs746594892 |
272 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1449106453 CA404823107 |
273 | C>S | No |
ClinGen gnomAD |
|
|
rs140705791 CA404823053 |
277 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140705791 CA9312004 |
277 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404823035 rs1201278819 |
279 | S>P | No |
ClinGen gnomAD |
|
|
CA404823021 rs1449977122 |
280 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 281 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206528812 CA404822991 |
282 | N>S | No |
ClinGen gnomAD |
|
|
rs752730989 CA9312003 |
287 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374356733 CA9312002 |
288 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA306199913 rs902814139 |
290 | E>Q | No |
ClinGen Ensembl |
|
|
rs754840766 CA9312001 |
291 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750515021 CA9312000 |
291 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA306199871 rs1014509227 |
292 | A>S | No |
ClinGen gnomAD |
|
|
CA9311997 rs751695972 |
294 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9311995 rs763210480 |
295 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1174581632 CA404822704 |
296 | R>Q | No |
ClinGen gnomAD |
|
|
CA404822709 rs1359874214 |
296 | R>W | No |
ClinGen TOPMed |
|
|
rs765846113 CA9311993 |
298 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368308537 CA9311992 |
299 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA306199819 rs201176038 |
302 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs201176038 CA9311991 |
302 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA306199806 rs1055949815 |
305 | K>R | No |
ClinGen Ensembl |
|
|
rs1212209435 CA404822447 |
310 | K>E | No |
ClinGen TOPMed |
|
|
COSM1391683 rs368064258 CA9311986 |
314 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA306199732 rs778621839 |
316 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9311984 rs778621839 |
316 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA404822318 rs1568365419 |
317 | D>G | No |
ClinGen Ensembl |
|
|
rs1448639066 CA404822308 |
318 | F>Y | No |
ClinGen gnomAD |
|
|
rs1568365407 CA404822268 |
320 | I>T | No |
ClinGen Ensembl |
|
|
rs754929713 CA9311983 |
321 | G>C | No |
ClinGen ExAC |
|
|
CA404822237 rs1331905444 |
322 | S>F | No |
ClinGen gnomAD |
|
|
rs1401691108 CA404822223 |
323 | G>R | No |
ClinGen gnomAD |
|
|
rs146702127 CA306199728 |
324 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9311980 rs146702127 |
324 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404822200 rs1473650086 |
325 | K>R | No |
ClinGen gnomAD |
|
|
rs768494602 CA9311947 |
326 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9311946 rs762729669 |
326 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404822110 rs1436728449 |
327 | M>I | No |
ClinGen TOPMed |
|
|
rs1424533199 CA404822115 |
327 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404822124 rs1163354634 |
327 | M>V | No |
ClinGen gnomAD |
|
|
CA404822084 COSM565351 rs1170798779 |
329 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769634970 COSM1290906 CA9311944 |
330 | V>M | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9311942 rs777750518 |
331 | S>G | No |
ClinGen ExAC |
|
|
CA632625681 rs1489198387 |
332 | Y>* | No |
ClinGen gnomAD |
|
|
rs779267153 CA9311939 |
337 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1341196071 CA404821863 |
341 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9311934 rs756610944 |
344 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA404821775 rs1486153403 |
345 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA306199516 rs896088861 |
347 | L>* | No |
ClinGen Ensembl |
|
|
rs1014944688 CA306199520 |
347 | L>V | No |
ClinGen Ensembl |
|
|
CA9311931 rs370121206 |
348 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9311930 rs751277347 |
350 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs200053161 CA306199512 |
351 | S>P | No |
ClinGen Ensembl |
|
|
rs1278996372 CA404821670 |
352 | K>E | No |
ClinGen TOPMed |
|
|
CA9311929 rs763738050 |
353 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9311927 rs775173727 |
354 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9311928 rs762538626 |
354 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404821624 rs762538626 |
354 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404821567 rs1394585819 |
357 | S>I | No |
ClinGen TOPMed |
|
|
CA306199504 rs1001719078 |
357 | S>R | No |
ClinGen Ensembl |
|
|
CA9311926 rs759435201 |
358 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs776608750 CA9311924 |
359 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404821514 rs374826894 |
360 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9311922 rs374826894 |
360 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769021617 CA9311920 |
362 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779071108 CA9311921 |
362 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9311918 rs780322638 |
363 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888573006 CA306199468 |
363 | M>T | No |
ClinGen Ensembl |
|
|
CA9311919 rs780322638 |
363 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223040883 CA404821411 |
364 | V>A | No |
ClinGen gnomAD |
|
|
CA9311917 rs756475636 |
364 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781718755 CA9311915 |
365 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs757692402 CA9311914 |
368 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758082611 CA404821276 |
372 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752367466 CA9311910 |
372 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752367466 CA404821264 |
372 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9311911 rs758082611 |
372 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9311909 rs150073676 |
374 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9311907 rs776501176 |
375 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404821076 rs1482143945 |
380 | C>S | No |
ClinGen gnomAD |
|
|
CA9311881 rs775362357 |
382 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs775362357 CA9311882 |
382 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA404820989 rs775362357 |
382 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9311879 rs746030986 |
385 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA404820907 rs1384410206 |
387 | P>L | No |
ClinGen gnomAD |
|
|
CA404820898 rs1384410206 |
387 | P>R | No |
ClinGen gnomAD |
|
|
CA404820891 rs1392332727 |
388 | Y>C | No |
ClinGen gnomAD |
|
|
CA9311877 rs771257185 |
388 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9311876 rs747567609 |
390 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404820866 rs747567609 |
390 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925770815 CA306199267 |
390 | G>R | No |
ClinGen gnomAD |
|
|
CA404820861 rs747567609 |
390 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335276064 CA404820825 |
392 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 394 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9311875 rs778239804 |
395 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404820780 rs1487634323 |
396 | L>V | No |
ClinGen TOPMed |
|
|
rs1229676355 CA404820739 |
398 | E>* | No |
ClinGen gnomAD |
|
|
rs1022172063 CA404820726 |
398 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404820703 rs1294994463 |
400 | T>A | No |
ClinGen gnomAD |
|
|
CA404820669 rs1331200841 |
402 | E>G | No |
ClinGen gnomAD |
|
|
CA404820655 rs1385008692 |
403 | L>V | No |
ClinGen gnomAD |
|
|
CA9311869 rs780043482 |
404 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600390953 CA404820641 |
404 | M>K | No |
ClinGen Ensembl |
|
|
CA9311868 rs755959374 |
405 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404820619 rs1368447460 |
406 | G>D | No |
ClinGen gnomAD |
|
|
CA404820600 rs1380000875 |
407 | G>E | No |
ClinGen TOPMed |
|
|
rs761595027 CA9311865 |
409 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555727204 CA9311863 |
410 | T>A | No |
ClinGen Ensembl |
|
|
CA9311862 rs752841720 |
412 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1268882650 CA404820537 |
412 | V>L | No |
ClinGen gnomAD |
|
|
rs1268882650 CA404820540 |
412 | V>M | No |
ClinGen gnomAD |
|
|
CA404820528 rs1232540869 |
413 | L>M | No |
ClinGen TOPMed |
|
|
rs765193604 CA9311861 |
413 | L>R | No |
ClinGen ExAC |
|
|
rs771346956 CA306199189 |
416 | T>K | No |
ClinGen ExAC TOPMed |
|
|
rs771346956 CA9311858 |
416 | T>M | No |
ClinGen ExAC TOPMed |
|
|
rs1491341664 CA632625629 |
417 | C>* | No |
ClinGen gnomAD |
|
|
rs1048393565 CA306199177 |
417 | C>* | No |
ClinGen TOPMed |
|
|
CA404820193 rs1210117488 |
424 | A>E | No |
ClinGen gnomAD |
|
|
CA9311831 rs762430037 |
424 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404820178 rs867444915 |
425 | P>S | No |
ClinGen gnomAD |
|
|
rs867444915 CA306199041 |
425 | P>T | No |
ClinGen gnomAD |
|
|
CA306199029 rs866282538 |
427 | M>I | No |
ClinGen Ensembl |
|
|
rs866771004 CA306199036 |
427 | M>T | No |
ClinGen Ensembl |
|
|
rs768278889 CA9311829 |
428 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9311830 rs774705896 |
428 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1309801100 CA404820024 |
431 | A>V | No |
ClinGen TOPMed |
|
|
rs769590365 CA404819969 |
434 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9311826 rs769590365 |
434 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA306198983 rs1008233897 |
435 | E>D | No |
ClinGen gnomAD |
|
|
CA9311825 rs370519381 |
435 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781083299 CA9311824 |
437 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA404819908 rs781083299 |
437 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs747025973 CA9311823 |
437 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453341017 CA404819867 |
439 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9311821 rs777566981 |
439 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1190072234 CA404819850 |
440 | V>L | No |
ClinGen gnomAD |
|
|
CA404819822 rs372975698 |
441 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558889381 CA9311817 |
441 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372975698 CA9311818 |
441 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9311816 rs750619194 |
442 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9311815 rs767980237 |
445 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs117608840 CA9311813 |
446 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404819727 rs1298673163 |
446 | M>K | No |
ClinGen gnomAD |
|
|
rs113236643 CA9311814 |
446 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404819714 rs1359995747 |
447 | D>H | No |
ClinGen gnomAD |
|
|
rs1359995747 CA404819715 |
447 | D>N | No |
ClinGen gnomAD |
|
|
CA9311810 rs775169995 |
448 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA9311811 rs763504022 |
448 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9311807 rs199853571 |
449 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145899718 CA404819669 |
449 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145899718 CA9311808 |
449 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1316488360 CA404819638 |
450 | P>T | No |
ClinGen TOPMed |
|
|
rs746789148 CA9311804 |
451 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA404819575 rs1418168194 |
452 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404819579 rs1418168194 |
452 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404819533 rs1191210333 |
454 | H>Y | No |
ClinGen gnomAD |
|
|
rs1478716077 CA404818745 |
455 | P>L | No |
ClinGen gnomAD |
|
|
rs758356975 CA9311802 |
456 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748039912 CA9311801 |
458 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA404818717 rs1487566483 |
460 | L>F | No |
ClinGen gnomAD |
|
|
rs1305926392 CA404818710 |
461 | S>N | No |
ClinGen gnomAD |
|
|
rs1305926392 CA404818709 |
461 | S>T | No |
ClinGen gnomAD |
|
|
CA404818702 rs1246154314 |
462 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs369815519 CA9311798 |
464 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404818676 rs1214303320 |
466 | A>T | No |
ClinGen gnomAD |
|
|
CA306198903 rs200581458 |
466 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1404823688 CA404818666 |
467 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 468 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300190790 CA404818657 |
469 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9311796 rs757442167 |
469 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306198896 rs745964998 |
470 | P>L | No |
ClinGen gnomAD |
|
|
rs376803671 CA9311794 |
471 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404818644 rs776119355 |
472 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404818645 rs776119355 |
472 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9311792 rs776119355 |
472 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306198886 rs1042929908 |
474 | P>L | No |
ClinGen gnomAD |
|
|
rs1042929908 CA404818628 |
474 | P>R | No |
ClinGen gnomAD |
|
|
rs140768810 CA9311788 |
475 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9311789 rs140768810 |
475 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA306198854 rs746626908 |
477 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9311787 rs746626908 |
477 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404818604 rs772915404 |
478 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404818607 rs1325779823 |
478 | A>T | No |
ClinGen gnomAD |
|
|
CA9311786 rs772915404 COSM120926 |
478 | A>V | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771825286 CA9311785 |
481 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748139675 CA9311784 |
481 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778814250 CA9311783 |
483 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA306198817 rs915099345 |
484 | S>G | No |
ClinGen TOPMed |
|
|
rs1373013361 CA404818536 |
484 | S>N | No |
ClinGen gnomAD |
|
|
CA404818504 rs1454212176 |
486 | I>M | No |
ClinGen gnomAD |
|
|
CA9311781 rs745945356 |
487 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 488 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325969662 CA404818458 |
490 | L>F | No |
ClinGen gnomAD |
|
|
rs781284111 CA9311780 |
491 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1191196752 CA404818384 |
492 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 494 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311219435 CA404818339 |
496 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3822350 CA306198539 rs945866048 |
497 | P>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs749866778 CA9311746 |
498 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404818317 rs1489969445 |
498 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1196017259 CA404818267 |
502 | M>I | No |
ClinGen gnomAD |
|
|
CA404818263 rs1485156570 |
503 | L>F | No |
ClinGen TOPMed |
|
|
CA404818174 rs1331148034 |
509 | E>V | No |
ClinGen gnomAD |
|
|
rs372353337 CA9311741 |
510 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775486515 CA9311739 |
510 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372353337 CA9311740 |
510 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747117719 CA9311737 |
512 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1397723588 CA404818140 |
513 | P>T | No |
ClinGen TOPMed |
|
|
CA9311736 rs773367547 |
514 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 517 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465407688 CA404818091 |
517 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9311735 rs772449312 |
518 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328955771 CA404818085 |
518 | V>L | No |
ClinGen TOPMed |
|
|
CA9311734 rs570793925 |
520 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404818062 rs1202269370 |
521 | V>A | No |
ClinGen gnomAD |
|
|
CA9311733 rs147275395 |
521 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755350113 CA306198423 |
523 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9311732 rs755350113 |
523 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306198374 rs1003258871 |
524 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9311729 rs747312137 |
525 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747312137 CA9311730 |
525 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200221382 CA306198351 CA404818027 |
527 | M>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs749954642 CA9311728 |
527 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464795493 CA404818010 |
530 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs980191950 CA404817995 |
532 | G>* | No |
ClinGen Ensembl |
|
|
CA306198319 rs930950192 |
532 | G>E | No |
ClinGen TOPMed |
|
|
rs980191950 CA306198320 |
532 | G>R | No |
ClinGen Ensembl |
|
|
CA9311723 rs751189492 |
533 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9311724 rs751189492 |
533 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424967822 CA404817991 |
533 | P>T | No |
ClinGen TOPMed |
|
|
CA9311721 rs762804918 |
534 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA306198266 rs765234659 |
536 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9311719 rs765234659 |
536 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404817975 rs1391004263 |
536 | A>V | No |
ClinGen gnomAD |
|
|
CA404817972 rs972918430 |
537 | A>P | No |
ClinGen gnomAD |
|
|
CA306198251 rs972918430 |
537 | A>T | No |
ClinGen gnomAD |
|
|
rs143175757 CA9311715 |
539 | N>S | No |
ClinGen ESP TOPMed |
|
|
rs772251805 CA9311714 |
540 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9311707 rs777714813 |
541 | C>* | No |
ClinGen ExAC |
|
|
CA9311712 rs774704289 |
541 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471388264 CA404817947 |
541 | C>R | No |
ClinGen gnomAD |
|
|
rs748432974 CA9311713 |
541 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768690400 CA9311711 |
542 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306198214 rs986928969 |
542 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs987418775 CA306198174 |
543 | G>D | No |
ClinGen TOPMed |
|
|
CA9311708 rs758811983 |
543 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780728546 CA9311706 CA9311705 |
544 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9311704 rs756745983 |
545 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748464658 CA306198156 |
547 | G>E | No |
ClinGen Ensembl |
|
|
rs751281429 CA9311703 |
547 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757930650 CA9311701 |
552 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9311700 rs752559696 |
553 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 554 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404817864 rs1358626831 |
555 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9311698 rs764904770 |
556 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1063525 CA9311697 |
557 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776690343 CA9311696 |
557 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1063525 CA306198100 |
557 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 557 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306198087 rs972218642 |
558 | T>I | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9NPH2
1 regional properties for Q9NPH2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Myo-inositol-1-phosphate synthase, GAPDH-like | 307 - 420 | IPR013021 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.5.1.4 | Intramolecular lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| inositol-3-phosphate synthase activity | Catalysis of the reaction: D-glucose 6-phosphate = 1D-myo-inositol 3-phosphate. This reaction requires NAD, which dehydrogenates the CHOH group to CO at C-5 of the glucose 6-phosphate, making C-6 into an active methylene, able to condense with the aldehyde at C-1. Finally, the enzyme-bound NADH reconverts C-5 into the CHOH form. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| inositol biosynthetic process | The chemical reactions and pathways resulting in the formation of inositol, 1,2,3,4,5,6-cyclohexanehexol, a growth factor for animals and microorganisms. |
| phospholipid biosynthetic process | The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6AYK3 | Isyna1 | Inositol-3-phosphate synthase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAAAQFFVE | SPDVVYGPEA | IEAQYEYRTT | RVSREGGVLK | VHPTSTRFTF | RTARQVPRLG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VMLVGWGGNN | GSTLTAAVLA | NRLRLSWPTR | SGRKEANYYG | SLTQAGTVSL | GLDAEGQEVF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VPFSAVLPMV | APNDLVFDGW | DISSLNLAEA | MRRAKVLDWG | LQEQLWPHME | ALRPRPSVYI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PEFIAANQSA | RADNLIPGSR | AQQLEQIRRD | IRDFRSSAGL | DKVIVLWTAN | TERFCEVIPG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LNDTAENLLR | TIELGLEVSP | STLFAVASIL | EGCAFLNGSP | QNTLVPGALE | LAWQHRVFVG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GDDFKSGQTK | VKSVLVDFLI | GSGLKTMSIV | SYNHLGNNDG | ENLSAPLQFR | SKEVSKSNVV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DDMVQSNPVL | YTPGEEPDHC | VVIKYVPYVG | DSKRALDEYT | SELMLGGTNT | LVLHNTCEDS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLAAPIMLDL | ALLTELCQRV | SFCTDMDPEP | QTFHPVLSLL | SFLFKAPLVP | PGSPVVNALF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RQRSCIENIL | RACVGLPPQN | HMLLEHKMER | PGPSLKRVGP | VAATYPMLNK | KGPVPAATNG |
| 550 | |||||
| CTGDANGHLQ | EEPPMPTT |