P49326
Gene name |
FMO5 |
Protein name |
Flavin-containing monooxygenase 5 |
Names |
FMO 5, Baeyer-Villiger monooxygenase 1, hBVMO1, Dimethylaniline monooxygenase [N-oxide-forming] 5, Dimethylaniline oxidase 5, NADPH oxidase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2330 |
EC number |
1.6.3.1: With oxygen as acceptor |
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 P49326
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P49326-F1 | Predicted | AlphaFoldDB |
493 variants for P49326
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs782280167 CA1063079 |
2 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782280167 CA342200137 |
2 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1333650 COSM1333649 CA342200129 rs1553927342 |
3 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA342200135 rs1553927346 |
3 | K>Q | No |
ClinGen gnomAD |
|
|
CA342200127 rs1553927341 |
4 | K>* | No |
ClinGen gnomAD |
|
|
rs1308543418 CA342200115 |
5 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1308543418 CA342200117 |
5 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1553927316 CA342200106 |
6 | I>M | No |
ClinGen gnomAD |
|
|
CA342200112 rs1398487288 |
6 | I>V | No |
ClinGen TOPMed |
|
|
CA342200102 rs1384895237 |
7 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA342200101 rs1384895237 |
7 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA342200089 rs1331343533 |
9 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs150343605 CA1063077 |
10 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1063076 rs150343605 |
10 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342200080 rs1553927287 |
11 | G>R | No |
ClinGen gnomAD |
|
|
CA1063075 rs782731754 |
12 | G>R | No |
ClinGen ExAC |
|
|
rs1553927282 CA342200063 |
14 | S>C | No |
ClinGen gnomAD |
|
|
rs1553927282 CA342200065 |
14 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781855435 COSM3375336 COSM74686 CA1063073 |
17 | S>Y | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1063072 rs373414071 |
18 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1553927261 CA342200040 |
18 | S>T | No |
ClinGen gnomAD |
|
|
rs1553927251 CA342200034 |
19 | I>V | No |
ClinGen gnomAD |
|
|
rs1553927246 CA342200017 |
21 | C>Y | No |
ClinGen gnomAD |
|
|
rs1553927245 CA342200009 |
22 | C>Y | No |
ClinGen gnomAD |
|
|
rs587653353 CA1063070 |
23 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA342200004 rs587653353 |
23 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1063069 rs782686115 |
24 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342199981 rs587621484 |
26 | G>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA1063068 rs587621484 |
26 | G>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs1553927232 CA342199974 |
27 | L>F | No |
ClinGen gnomAD |
|
|
CA1063066 rs781943524 |
28 | E>* | No |
ClinGen ExAC TOPMed |
|
|
CA342199958 rs1553927221 |
29 | P>H | No |
ClinGen gnomAD |
|
|
rs1374729846 CA342199947 |
31 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1553927215 CA342199943 |
32 | F>I | No |
ClinGen gnomAD |
|
|
rs1456277239 CA1063063 |
36 | D>Y | No |
ClinGen TOPMed |
|
|
CA342199907 rs1391184417 |
37 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1442699875 CA342199884 |
39 | G>R | No |
ClinGen TOPMed |
|
|
CA342199856 rs1553927183 |
41 | L>F | No |
ClinGen gnomAD |
|
|
rs782022440 CA1063060 |
42 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1063059 rs782330792 |
42 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342199817 rs1228538453 |
43 | R>S | No |
ClinGen TOPMed |
|
|
rs1363948427 CA342199829 |
43 | R>W | No |
ClinGen TOPMed |
|
|
CA1063039 rs138739313 |
47 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553924994 CA342199069 |
48 | P>S | No |
ClinGen gnomAD |
|
|
rs782297433 CA1063038 |
49 | E>K | No |
ClinGen ExAC |
|
|
CA29872647 rs1013838609 |
50 | E>K | No |
ClinGen Ensembl |
|
|
rs782664070 CA1063036 |
52 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA342199012 rs1275569164 |
53 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201023390 CA1063034 |
53 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342199008 rs1275569164 |
53 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA29872638 rs201690973 |
54 | S>G | No |
ClinGen 1000Genomes |
|
|
CA342199000 rs1553924975 |
54 | S>N | No |
ClinGen gnomAD |
|
|
CA1063033 rs782621445 |
54 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553924968 CA342198982 |
55 | I>T | No |
ClinGen gnomAD |
|
|
rs1553924967 CA342198963 |
56 | Y>C | No |
ClinGen gnomAD |
|
|
CA342198927 rs1463852620 |
58 | S>L | No |
ClinGen TOPMed |
|
|
rs1204907492 CA342198921 |
59 | V>G | No |
ClinGen TOPMed |
|
|
rs782458920 CA1063032 |
59 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781864791 CA1063031 |
61 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1553924937 CA342198883 |
62 | N>D | No |
ClinGen gnomAD |
|
|
CA342198848 rs1448965440 |
64 | S>C | No |
ClinGen TOPMed |
|
|
CA1063027 rs782706521 |
66 | E>G | No |
ClinGen ExAC |
|
|
rs1553924918 CA342198800 |
67 | M>V | No |
ClinGen gnomAD |
|
|
rs1167068971 CA342198771 |
68 | M>I | No |
ClinGen TOPMed |
|
|
rs141961654 CA1063026 |
68 | M>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA342198776 rs141961654 |
68 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 68 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342198755 rs1409659937 |
69 | C>F | No |
ClinGen TOPMed |
|
|
rs1553924906 CA342198654 |
76 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1063025 rs781824470 |
80 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553924900 CA342198573 |
81 | N>S | No |
ClinGen gnomAD |
|
|
CA1063024 rs185244734 |
82 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342198540 rs1386781691 |
83 | M>T | No |
ClinGen TOPMed |
|
|
rs782113433 CA1063023 |
84 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs782795060 CA1063020 |
86 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA342198489 rs1393958255 |
86 | A>T | No |
ClinGen TOPMed |
|
|
CA1063019 rs782274844 |
88 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM458629 CA342198453 COSM1134399 rs1355592356 |
90 | E>Q | cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1063017 rs782357986 |
91 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA342198421 rs1416054632 |
94 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781994979 CA1063015 |
95 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 97 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327721540 CA342198394 |
97 | K>N | No |
ClinGen TOPMed |
|
|
CA1063014 rs782372330 |
98 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342198387 rs1553924863 |
98 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782594931 CA1063012 |
100 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA342198374 rs1553924854 |
100 | D>E | No |
ClinGen gnomAD |
|
|
rs782594931 CA1063013 |
100 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA29872516 rs894955788 |
100 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs894955788 CA342198377 |
100 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA342198370 rs1353231634 |
101 | L>I | No |
ClinGen TOPMed |
|
|
CA1063009 rs769261130 |
106 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs782514474 CA1063008 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1063007 rs781856596 |
107 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1571373670 CA342198334 |
107 | F>L | No |
ClinGen Ensembl |
|
|
rs368761669 CA1062990 |
110 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553924254 CA342198286 |
112 | C>Y | No |
ClinGen gnomAD |
|
|
CA1062988 rs782593257 |
113 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062987 rs373669935 |
116 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1381666493 CA342198240 |
118 | P>L | No |
ClinGen TOPMed |
|
|
CA1062985 rs367897328 |
119 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062986 rs367897328 |
119 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062982 rs781849588 |
122 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1062981 rs782794854 |
124 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA342198174 rs1553924223 |
128 | V>A | No |
ClinGen gnomAD |
|
|
rs1553924227 CA342198176 |
128 | V>L | No |
ClinGen gnomAD |
|
|
rs782137341 CA1062980 |
132 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1062978 rs782767440 |
133 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1062979 rs781795531 |
133 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA29871634 rs950779253 |
134 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA29871640 rs1005361263 |
134 | G>R | No |
ClinGen Ensembl |
|
|
CA1062975 rs782377974 |
135 | K>N | No |
ClinGen ExAC |
|
|
CA1062976 rs782003965 |
135 | K>R | No |
ClinGen ExAC |
|
|
CA342198127 rs868940730 |
136 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1062974 rs782167673 |
136 | K>Q | No |
ClinGen ExAC |
|
|
CA342198128 rs868940730 |
136 | K>R | No |
ClinGen gnomAD |
|
|
CA1062972 rs782320213 |
137 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA29871625 rs145368007 |
137 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145368007 CA1062973 |
137 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782177308 CA1062971 |
138 | M>K | No |
ClinGen ExAC |
|
|
CA1062970 rs781886015 |
138 | M>RT* | No |
ClinGen ExAC |
|
|
CA342198103 rs1553924203 |
139 | N>K | No |
ClinGen gnomAD |
|
|
CA342198090 rs1334328841 |
141 | F>L | No |
ClinGen TOPMed |
|
|
CA1062969 rs782606292 |
141 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA1062967 rs782259613 |
144 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342198065 rs1310262027 |
145 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342198066 rs1310262027 |
145 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782547260 CA1062965 |
147 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs901100743 CA29871602 |
147 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs587710509 CA1062964 |
148 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1062963 rs782585785 |
149 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA342198035 rs1553924179 |
150 | H>R | No |
ClinGen gnomAD |
|
|
rs1571351583 CA342198037 |
150 | H>Y | No |
ClinGen Ensembl |
|
|
rs587652629 CA342198022 |
152 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1062961 rs587652629 |
152 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1062960 rs782776197 |
153 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342198006 rs1255422384 |
154 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782120560 CA1062959 |
155 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781910099 CA342197997 |
156 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1062957 rs782796413 |
157 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA29871542 rs1039562387 |
157 | P>T | No |
ClinGen Ensembl |
|
|
CA1062956 rs782068768 |
158 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781920064 CA1062955 |
159 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553924152 CA342197973 |
160 | S>I | No |
ClinGen gnomAD |
|
|
CA342197972 rs1559668302 |
160 | S>R | No |
ClinGen Ensembl |
|
|
rs1006691533 CA29871511 |
162 | P>S | No |
ClinGen Ensembl |
|
|
rs782768099 CA1062935 |
164 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466905136 CA342197939 |
164 | I>V | No |
ClinGen TOPMed |
|
|
rs1348861978 CA342197934 |
165 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
RCV000967806 rs58351438 CA1062934 |
166 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1062932 rs782787091 |
168 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347971901 CA342197882 |
170 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1062931 rs782061860 |
171 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781979585 CA1062930 |
172 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA342197841 rs1319002970 |
173 | H>R | No |
ClinGen TOPMed |
|
|
rs143647812 CA1062929 |
173 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1333641 COSM1333642 CA1062928 rs587682197 |
175 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs782690948 CA342197815 |
175 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782690948 CA1062927 |
175 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342197794 rs1451190224 |
176 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1062926 rs200936105 |
177 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM161112 CA342197785 rs1222401972 |
177 | Y>C | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1062925 rs782278097 |
178 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1553923941 CA342197770 |
178 | K>R | No |
ClinGen gnomAD |
|
|
rs782576772 CA1062924 |
181 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA342197730 rs1476811833 |
181 | E>A | No |
ClinGen TOPMed |
|
|
rs782228735 CA1062922 |
182 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA342197688 rs1553923929 |
184 | T>A | No |
ClinGen gnomAD |
|
|
rs782516404 CA1062920 |
186 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA342197651 rs781850993 |
187 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782816480 CA1062918 |
187 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1062919 rs781850993 |
187 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1424121018 CA342197637 |
188 | V>D | No |
ClinGen TOPMed |
|
|
rs1553923920 CA342197628 |
189 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571344330 CA342197620 |
190 | I>V | No |
ClinGen Ensembl |
|
|
CA1062916 rs781797303 |
191 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs782524155 CA1062917 |
191 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062915 rs370710329 |
192 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062914 rs782092443 |
193 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324982224 CA342197540 |
196 | S>A | No |
ClinGen TOPMed |
|
|
CA342197530 rs1553923908 |
197 | G>R | No |
ClinGen gnomAD |
|
|
rs1571344163 CA342197510 |
198 | G>E | No |
ClinGen Ensembl |
|
|
rs376305166 CA29871133 |
198 | G>R | No |
ClinGen gnomAD |
|
|
COSM1667896 rs782766791 CA1062912 COSM1667897 |
199 | D>H | lung central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1062910 rs782018520 |
202 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782167223 CA1062911 |
202 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs200593411 CA29871116 |
203 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1553923897 CA342197414 |
205 | S>R | No |
ClinGen gnomAD |
|
|
CA1062908 rs782176597 |
206 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062907 rs781963495 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1062889 rs782078934 |
213 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA342196720 rs1553923154 |
214 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1062887 rs782373884 |
214 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553923146 CA342196677 |
217 | R>S | No |
ClinGen gnomAD |
|
|
rs898699397 CA29870003 |
218 | G>R | No |
ClinGen gnomAD |
|
|
CA342196670 rs782011777 |
219 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062884 rs782011777 |
219 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342196668 rs1559661636 |
219 | A>V | No |
ClinGen Ensembl |
|
|
CA1062883 rs782318371 |
221 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553923133 CA342196649 |
222 | L>P | No |
ClinGen gnomAD |
|
|
rs782170956 CA1062882 |
222 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782619685 CA342196638 |
224 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782390826 CA1062880 |
224 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782619685 CA1062881 |
224 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062879 rs782247603 |
225 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782690942 CA1062878 |
226 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553923128 CA342196628 |
226 | G>R | No |
ClinGen gnomAD |
|
|
rs782573507 CA1062875 |
228 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142613638 CA1062874 |
229 | G>R | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143515661 CA1062872 |
232 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 233 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782111398 CA1062871 |
233 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1062869 rs782790150 |
234 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553923090 CA342196484 |
239 | R>G | No |
ClinGen gnomAD |
|
|
CA1062868 rs782060976 |
239 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1062866 rs782348340 |
241 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA342196433 rs150291421 |
243 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA29869913 rs150291421 |
243 | F>V | No |
ClinGen ESP TOPMed |
|
|
rs148462233 CA342196408 |
244 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1062863 CA1062864 rs782441743 |
245 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA342196306 rs1553923075 |
251 | S>L | No |
ClinGen Ensembl |
|
|
CA1062859 rs782235792 |
251 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs782611488 CA1062858 |
252 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs782238891 CA1062856 |
253 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062857 rs782509696 |
253 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553923066 CA342196280 |
254 | N>D | No |
ClinGen gnomAD |
|
|
rs782673844 CA1062855 |
254 | N>K | No |
ClinGen ExAC gnomAD |
|
| rs72549315 | 260 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs72549315 | 261 | I>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1062853 rs587730252 |
262 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1062852 rs781800019 |
263 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29869840 rs977925691 |
264 | R>W | No |
ClinGen Ensembl |
|
|
rs1559661068 CA342196117 |
265 | F>L | No |
ClinGen Ensembl |
|
|
COSM895275 rs1348262929 CA342196104 COSM1151825 |
266 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs782693538 CA1062851 |
267 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1062850 rs140667185 |
268 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781820238 CA1062849 |
271 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA342196008 rs1201279141 |
271 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA29869820 rs1024755340 |
273 | K>R | No |
ClinGen Ensembl |
|
|
CA342195978 rs1553923050 |
274 | P>A | No |
ClinGen gnomAD |
|
|
CA1062848 rs370843382 |
276 | H>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA342194413 rs1553920995 |
278 | A>T | No |
ClinGen gnomAD |
|
|
CA1062830 rs587632947 |
280 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781791745 CA342194393 |
281 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062829 rs781791745 |
281 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062828 rs375828487 |
284 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062827 rs782088450 |
284 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342194368 rs1553920985 |
285 | L>* | No |
ClinGen gnomAD |
|
|
CA29866981 rs917646951 |
286 | N>S | No |
ClinGen Ensembl |
|
|
rs782007251 CA342194344 |
288 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143729816 CA1062824 |
292 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143729816 CA342194322 |
292 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062823 rs372716556 |
292 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782017216 CA1062822 |
293 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA29866968 rs370263774 |
294 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 295 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1062821 rs587767140 |
298 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342194280 rs1473153633 |
299 | K>T | No |
ClinGen TOPMed |
|
|
CA1062820 rs587683297 |
300 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 301 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342194260 rs1559649647 |
302 | G>E | No |
ClinGen Ensembl |
|
|
CA1062819 CA342194262 rs369165742 |
302 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782258305 CA1062816 |
304 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1553920954 CA342194241 |
305 | K>M | No |
ClinGen gnomAD |
|
|
CA29866938 rs145231434 |
306 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1062815 rs375148951 |
308 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553920942 CA342194212 |
309 | E>G | No |
ClinGen gnomAD |
|
|
rs782199174 CA1062813 |
310 | T>I | No |
ClinGen ExAC |
|
|
CA342194201 rs1450052424 |
311 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs782585776 CA1062812 |
311 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1062810 rs587673087 |
313 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1062811 rs587673087 |
313 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139232242 CA1062809 |
314 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782502476 CA1062808 |
315 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1062807 rs142335408 |
319 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782793382 CA1062806 |
320 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062805 rs781783469 |
321 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA342194140 rs1553920923 |
321 | D>N | No |
ClinGen gnomAD |
|
|
CA1062802 rs782075632 |
323 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781998990 CA1062801 |
325 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1062800 rs782425210 |
326 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1138582 COSM528283 CA342194099 rs1553920917 |
327 | I>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1062799 rs202145159 |
327 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062798 rs202145159 |
327 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062796 rs782227201 |
328 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199667610 CA1062797 |
328 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553920903 CA342194085 |
329 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 333 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587740648 CA342194045 |
335 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1062794 rs587740648 |
335 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782678465 CA1062793 |
337 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782405859 CA29866861 |
337 | P>L | No |
ClinGen Ensembl |
|
|
CA1062792 rs782678465 |
337 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553920885 CA342194003 |
341 | D>V | No |
ClinGen gnomAD |
|
|
COSM1185574 CA1062789 COSM1185573 rs201890460 |
343 | V>I | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA29866839 rs782484284 |
344 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1553920876 CA342193971 |
346 | V>I | No |
ClinGen gnomAD |
|
|
rs1553920874 CA342193950 |
347 | K>N | No |
ClinGen gnomAD |
|
|
rs782472747 CA1062787 |
350 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342193902 rs1571243695 |
350 | I>M | No |
ClinGen Ensembl |
|
|
rs782472747 CA342193912 |
350 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29866822 rs1044848 |
351 | S>P | No |
ClinGen gnomAD |
|
|
CA1062785 rs782764302 |
354 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA342193838 rs1335745543 |
355 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs138976736 CA1062783 |
356 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782720672 CA1062782 |
356 | V>G | No |
ClinGen ExAC |
|
|
rs138976736 CA1062784 |
356 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342193754 rs1334615714 |
358 | P>S | No |
ClinGen TOPMed |
|
|
CA342193732 rs1571243389 |
359 | P>R | No |
ClinGen Ensembl |
|
|
CA1062779 rs782058937 |
359 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222060131 CA342193681 |
362 | E>G | No |
ClinGen TOPMed |
|
|
rs781974050 CA1062776 |
363 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA342193660 rs781974050 |
363 | R>T | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 364 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553920832 CA342193636 |
365 | T>A | No |
ClinGen gnomAD |
|
|
rs1345995407 CA342193623 |
365 | T>I | No |
ClinGen TOPMed |
|
|
rs1553920831 CA342193614 |
366 | L>F | No |
ClinGen gnomAD |
|
|
CA1062774 rs151065604 |
367 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342193594 rs151065604 |
367 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148940888 CA1062772 |
368 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148940888 CA342193584 |
368 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553920823 CA342193564 |
369 | I>L | No |
ClinGen gnomAD |
|
|
CA342193549 rs1253874785 |
369 | I>M | No |
ClinGen TOPMed |
|
|
CA1062770 rs189477318 |
369 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1175101050 CA342193514 |
371 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs371682227 CA1062769 |
371 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062768 rs781936783 |
372 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377935007 CA342193451 |
375 | L>F | No |
ClinGen TOPMed |
|
|
rs1553920812 CA342193446 |
376 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342193418 rs1553920811 |
377 | A>V | No |
ClinGen gnomAD |
|
|
CA1062766 rs375231884 |
379 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs896249198 CA29866725 |
380 | P>T | No |
ClinGen gnomAD |
|
|
CA342193336 rs1553920802 |
381 | I>V | No |
ClinGen gnomAD |
|
|
rs1467286698 CA342193254 |
384 | L>F | No |
ClinGen TOPMed |
|
|
CA342193218 rs1165757897 |
386 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200894114 CA1062765 |
387 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372175539 CA1062764 |
387 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062763 rs372175539 |
387 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553920791 CA342193170 |
388 | W>C | No |
ClinGen gnomAD |
|
|
CA342193161 rs1553920787 |
389 | A>D | No |
ClinGen gnomAD |
|
|
rs782678982 CA342193168 |
389 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782678982 CA1062762 |
389 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs56134376 CA342193125 |
391 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56134376 CA1062761 RCV000963061 |
391 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1403574339 CA342193112 |
392 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342193116 rs1553920780 |
392 | V>L | No |
ClinGen gnomAD |
|
|
CA342193108 rs1301044606 |
393 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 395 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29891708 rs781918962 |
398 | T>S | No |
ClinGen Ensembl |
|
|
rs1553918172 CA342200306 |
399 | L>F | No |
ClinGen gnomAD |
|
|
VAR_022308 CA1062744 rs28381218 |
400 | P>A | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs28381218 CA342200304 |
400 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 402 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469332068 CA342200275 |
403 | S>N | No |
ClinGen TOPMed |
|
|
CA29891686 rs922635792 |
404 | E>A | No |
ClinGen Ensembl |
|
|
rs1553918160 CA342200264 |
404 | E>D | No |
ClinGen gnomAD |
|
|
CA1062741 rs782503129 |
406 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs782565858 CA1062742 |
406 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782221869 CA342200247 |
407 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782221869 CA1062740 |
407 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782652642 CA1062739 |
407 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA342200213 rs782506028 |
412 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1062738 rs782506028 |
412 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1062737 rs781910024 |
413 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA342200208 rs781910024 |
413 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1302457745 CA342200200 |
414 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA342200198 rs1363704533 |
414 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1302457745 CA342200202 |
414 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA342200191 rs1411701659 |
415 | E>G | No |
ClinGen TOPMed |
|
|
rs782810821 CA1062736 |
416 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782444225 CA1062735 |
417 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs781788968 CA1062734 |
418 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342200168 rs1553918143 |
418 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342199876 rs1553917377 |
420 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1478875458 CA342199861 |
421 | V>A | No |
ClinGen TOPMed |
|
|
CA29890495 rs961562235 |
422 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1062710 rs199847833 |
425 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782498502 CA1062709 |
425 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782791087 CA1062707 |
427 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA342199785 rs1571120292 |
427 | T>N | No |
ClinGen Ensembl |
|
|
CA342199779 rs1160444538 |
428 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342199778 rs1160444538 |
428 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 429 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29890472 rs782302089 |
430 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1062705 rs367729050 CA29890474 |
430 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342199746 rs1553917352 |
432 | Y>C | No |
ClinGen gnomAD |
|
|
rs145252386 CA1062703 |
433 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1062704 rs781844490 |
433 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA1062701 rs587668808 |
435 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1062699 rs782153963 |
436 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA342199696 rs1553917344 |
439 | L>P | No |
ClinGen gnomAD |
|
|
rs1242940197 CA342199689 |
440 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1242940197 CA342199690 |
440 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA342199679 rs1287447390 |
442 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1353765170 CA342199671 |
443 | V>L | No |
ClinGen TOPMed |
|
|
CA1062698 rs781937936 |
445 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1008460202 CA29890442 |
446 | R>G | No |
ClinGen Ensembl |
|
|
CA1062696 rs782223954 |
448 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1062697 rs782306324 |
448 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782603045 CA1062695 |
449 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA1062693 rs782670809 |
451 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1062692 rs782670809 |
451 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA29890389 rs373872924 |
455 | T>A | No |
ClinGen ESP TOPMed |
|
|
CA29890388 rs148620163 |
455 | T>N | No |
ClinGen ESP |
|
|
rs373872924 CA342199605 |
455 | T>P | No |
ClinGen ESP TOPMed |
|
|
VAR_015370 rs72549314 CA29890386 |
457 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs782675203 CA342199580 |
459 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142319282 CA1062690 |
461 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370720513 CA1062689 |
462 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs892808249 CA29890385 |
463 | L>V | No |
ClinGen TOPMed |
|
|
rs1052687286 CA29890376 |
464 | L>* | No |
ClinGen Ensembl |
|
|
CA342199537 rs1380892136 |
466 | G>E | No |
ClinGen TOPMed |
|
|
rs781869629 CA1062687 |
466 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29890351 rs907429343 |
467 | P>L | No |
ClinGen Ensembl |
|
|
CA1062686 rs782785362 |
467 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1062685 rs782551856 |
469 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782551856 CA342199521 |
469 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1062684 rs781893420 |
470 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342199501 rs1553917301 |
472 | H>R | No |
ClinGen gnomAD |
|
|
CA1062683 rs782720469 |
473 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377635959 CA1062682 |
474 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374261975 CA1062681 |
474 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782724832 CA1062680 |
475 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342199473 rs1406190798 |
477 | G>S | No |
ClinGen TOPMed |
|
|
rs782121441 CA1062679 |
479 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs782121441 CA342199458 |
479 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1062676 rs782432147 |
482 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1553917282 CA342199432 |
483 | G>R | No |
ClinGen gnomAD |
|
|
CA342199425 rs1553917275 |
484 | A>T | No |
ClinGen gnomAD |
|
|
CA1062674 rs781933672 |
484 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs916036504 CA29890260 |
485 | R>* | No |
ClinGen gnomAD |
|
|
CA342199421 rs916036504 |
485 | R>G | No |
ClinGen gnomAD |
|
|
rs376858269 CA1062673 |
485 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1376842917 CA342199417 |
486 | K>* | No |
ClinGen TOPMed |
|
|
CA342199395 rs1553917259 |
489 | L>F | No |
ClinGen gnomAD |
|
|
rs782217619 CA1062672 |
492 | D>G | No |
ClinGen ExAC |
|
|
rs143837136 CA1062669 |
493 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143837136 CA1062670 |
493 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143837136 CA1062671 |
493 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1062668 rs150439781 |
494 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782471177 CA1062667 |
494 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342199323 rs1559629560 |
500 | M>I | No |
ClinGen Ensembl |
|
|
rs1457263874 CA342199317 |
501 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA342199312 rs1370260244 |
502 | R>K | No |
ClinGen TOPMed |
|
|
rs751841669 CA29890229 |
503 | V>I | No |
ClinGen Ensembl |
|
|
rs1553917244 CA342199298 |
504 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_022309 rs28381223 CA1062661 |
506 | R>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1553917240 CA342199273 |
508 | S>R | No |
ClinGen gnomAD |
|
|
CA342199261 rs1162861810 |
509 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1162861810 CA342199263 |
509 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1062659 rs781868437 |
510 | M>I | No |
ClinGen ExAC |
|
|
CA342199258 rs782462768 |
510 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1062660 rs782462768 |
510 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148972947 CA29890219 |
510 | M>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs782763612 CA1062658 |
513 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA29890174 rs912455922 |
514 | M>T | No |
ClinGen Ensembl |
|
|
rs1553917230 CA342199227 |
515 | T>A | No |
ClinGen gnomAD |
|
|
CA1062657 rs782158650 |
516 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553917228 CA342199222 |
516 | I>V | No |
ClinGen gnomAD |
|
|
rs782015138 CA1062656 |
518 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553917218 CA342199199 |
519 | F>C | No |
ClinGen gnomAD |
|
|
rs1553917205 CA342199188 |
520 | M>I | No |
ClinGen gnomAD |
|
|
CA1062654 rs782703640 |
521 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782101886 CA1062653 |
522 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA342199177 rs1390154956 |
523 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781959760 CA1062652 |
524 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29890157 rs111246446 |
525 | F>L | No |
ClinGen Ensembl |
|
|
rs782394369 CA1062651 |
525 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs373956596 CA1062650 |
526 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1553917191 CA342199159 |
526 | F>S | No |
ClinGen gnomAD |
|
|
rs1341706049 CA342199146 |
528 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342199147 rs1341706049 |
528 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1062648 rs782424053 |
529 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1553917181 CA342199131 |
530 | I>T | No |
ClinGen gnomAD |
|
|
rs1553917183 CA342199134 |
530 | I>V | No |
ClinGen gnomAD |
|
|
rs782197162 CA1062647 |
531 | A>P | No |
ClinGen ExAC gnomAD |
No associated diseases with P49326
No regional properties for P49326
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P49326 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 1.6.3.1 | With oxygen as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| aldehyde oxidase activity | Catalysis of the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide. |
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
| monooxygenase activity | Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. |
| N,N-dimethylaniline monooxygenase activity | Catalysis of the reaction: N,N-dimethylaniline + NADPH + H+ + O2 = N,N-dimethylaniline N-oxide + NADP+ + H2O. |
| NADP binding | Binding to nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NADP+, or the reduced form, NADPH. |
| NADPH oxidase H202-forming activity | Catalysis of the reaction: NADPH + H+ + O2 = NADP + hydrogen peroxide (H2O2). |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| NADPH oxidation | A metabolic process that results in the oxidation of reduced nicotinamide adenine dinucleotide, NADPH, to the oxidized form, NADP. |
| regulation of cholesterol metabolic process | Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P31512 | FMO4 | Dimethylaniline monooxygenase [N-oxide-forming] 4 | Homo sapiens (Human) | PR |
| P97501 | Fmo3 | Dimethylaniline monooxygenase [N-oxide-forming] 3 | Mus musculus (Mouse) | PR |
| Q8K2I3 | Fmo2 | Dimethylaniline monooxygenase [N-oxide-forming] 2 | Mus musculus (Mouse) | PR |
| Q8VHG0 | Fmo4 | Dimethylaniline monooxygenase [N-oxide-forming] 4 | Mus musculus (Mouse) | PR |
| P97872 | Fmo5 | Flavin-containing monooxygenase 5 | Mus musculus (Mouse) | PR |
| Q8K4B7 | Fmo4 | Dimethylaniline monooxygenase [N-oxide-forming] 4 | Rattus norvegicus (Rat) | PR |
| Q6IRI9 | Fmo2 | Dimethylaniline monooxygenase [N-oxide-forming] 2 | Rattus norvegicus (Rat) | PR |
| Q9EQ76 | Fmo3 | Dimethylaniline monooxygenase [N-oxide-forming] 3 | Rattus norvegicus (Rat) | PR |
| Q8K4C0 | Fmo5 | Flavin-containing monooxygenase 5 | Rattus norvegicus (Rat) | PR |
| Q9SVU0 | YUC8 | Probable indole-3-pyruvate monooxygenase YUCCA8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SXD9 | At1g62580 | Flavin-containing monooxygenase FMO GS-OX-like 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8T8 | At1g63340 | Putative flavin-containing monooxygenase FMO GS-OX-like 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTKKRIAVIG | GGVSGLSSIK | CCVEEGLEPV | CFERTDDIGG | LWRFQENPEE | GRASIYKSVI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INTSKEMMCF | SDYPIPDHYP | NFMHNAQVLE | YFRMYAKEFD | LLKYIRFKTT | VCSVKKQPDF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATSGQWEVVT | ESEGKKEMNV | FDGVMVCTGH | HTNAHLPLES | FPGIEKFKGQ | YFHSRDYKNP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EGFTGKRVII | IGIGNSGGDL | AVEISQTAKQ | VFLSTRRGAW | ILNRVGDYGY | PADVLFSSRL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| THFIWKICGQ | SLANKYLEKK | INQRFDHEMF | GLKPKHRALS | QHPTLNDDLP | NRIISGLVKV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KGNVKEFTET | AAIFEDGSRE | DDIDAVIFAT | GYSFDFPFLE | DSVKVVKNKI | SLYKKVFPPN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LERPTLAIIG | LIQPLGAIMP | ISELQGRWAT | QVFKGLKTLP | SQSEMMAEIS | KAQEEIDKRY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VESQRHTIQG | DYIDTMEELA | DLVGVRPNLL | SLAFTDPKLA | LHLLLGPCTP | IHYRVQGPGK |
| 490 | 500 | 510 | 520 | 530 | |
| WDGARKAILT | TDDRIRKPLM | TRVVERSSSM | TSTMTIGKFM | LALAFFAIII | AYF |