P31512
Gene name |
FMO4 (FMO2) |
Protein name |
Dimethylaniline monooxygenase [N-oxide-forming] 4 |
Names |
Dimethylaniline oxidase 4, Hepatic flavin-containing monooxygenase 4, FMO 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2329 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P31512
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P31512-F1 | Predicted | AlphaFoldDB |
451 variants for P31512
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1403195183 CA343171268 |
3 | K>Q | No |
ClinGen gnomAD |
|
|
rs1353341129 CA343171274 |
3 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1241903 rs200011265 |
4 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32523843 rs200011265 |
4 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303319200 CA343171318 |
5 | V>A | No |
ClinGen gnomAD |
|
|
rs1377144297 CA343171330 |
6 | A>E | No |
ClinGen TOPMed |
|
|
rs1415354699 CA343171322 |
6 | A>T | No |
ClinGen TOPMed |
|
|
CA343171370 rs1254015041 |
8 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs138281959 CA32523860 |
9 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA1241904 rs746606362 |
10 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770560362 CA1241905 |
11 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759456397 CA1241907 |
13 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 16 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769820517 CA1241909 COSM229436 |
17 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA343171526 rs1571389189 |
18 | I>L | No |
ClinGen Ensembl |
|
|
CA343171555 rs1257072822 |
19 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775526269 CA1241910 |
19 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1241911 rs139357044 |
20 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32523919 rs60906481 |
21 | C>R | No |
ClinGen Ensembl |
|
|
rs983701724 CA343171601 CA32523941 |
22 | V>L | No |
ClinGen TOPMed |
|
|
rs983701724 CA343171598 |
22 | V>M | No |
ClinGen TOPMed |
|
|
CA343171629 rs1473133232 CA343171626 |
23 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1241912 rs764173028 |
23 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 23 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1241913 CA1241914 rs751595529 |
24 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32523993 VAR_084652 rs866374389 |
28 | P>H | found in a patient with intellectual disability; unknown pathological significance [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
rs908136828 CA32523996 |
29 | T>P | No |
ClinGen TOPMed |
|
|
rs1438448977 COSM349848 CA343171839 |
33 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs767782831 CA1241916 |
34 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1241917 rs750763602 |
35 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA343171883 rs1374387779 |
36 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1374387779 CA343171888 |
36 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1241918 VAR_015367 rs72549338 |
37 | I>T | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs150752522 CA1241919 CA343171912 |
38 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1241920 rs200385793 |
39 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144010968 CA1241922 |
39 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1241921 rs200385793 |
39 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343171961 rs1214868616 |
41 | W>R | No |
ClinGen Ensembl |
|
|
CA1241923 rs746562406 |
42 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529712306 CA1241924 |
44 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343172004 rs1484577525 |
45 | E>K | No |
ClinGen gnomAD |
|
|
CA343172047 rs1187438257 |
49 | D>N | No |
ClinGen gnomAD |
|
|
rs1248531863 CA343172061 |
50 | G>R | No |
ClinGen gnomAD |
|
|
rs1264718740 CA343172073 |
51 | M>K | No |
ClinGen TOPMed |
|
|
CA343172083 rs1257488704 COSM239893 |
52 | T>A | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA343172084 rs1257488704 |
52 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs141118786 CA1241949 |
54 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553252107 CA1241951 |
55 | Y>* | No |
ClinGen Ensembl |
|
|
rs768614015 CA1241950 |
55 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228959558 CA343172124 |
55 | Y>H | No |
ClinGen TOPMed |
|
|
rs1320023124 CA343172240 |
59 | V>A | No |
ClinGen gnomAD |
|
|
CA343172234 rs1320023124 |
59 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437827687 CA343172303 |
62 | V>I | No |
ClinGen gnomAD |
|
|
rs760882834 CA1241957 |
64 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1326683417 TCGA novel CA343172404 |
66 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA1241958 rs766650072 |
66 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1241960 rs759860288 |
73 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343172575 CA1241963 rs375743555 |
75 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1241961 rs765668600 |
75 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3418325 CA1241964 rs764211255 |
76 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1241965 rs750017217 |
78 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA343172684 rs1183429707 |
82 | M>L | No |
ClinGen gnomAD |
|
|
rs755813731 CA1241966 |
84 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA1241967 rs779621214 |
84 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343172728 rs779621214 |
84 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170087660 CA343172746 |
85 | E>* | No |
ClinGen TOPMed |
|
|
rs1471852091 CA343172777 |
86 | K>E | No |
ClinGen TOPMed |
|
|
CA343172785 rs1367921023 |
86 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 87 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1241969 rs754687832 |
88 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914285583 CA32527345 |
89 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs970683537 CA32527341 |
89 | D>N | No |
ClinGen Ensembl |
|
|
rs1340449588 CA343172875 |
90 | Y>C | No |
ClinGen gnomAD |
|
|
rs1420791339 CA343172971 |
95 | A>T | No |
ClinGen gnomAD |
|
|
CA1241971 rs369206560 |
95 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM26342 CA343172997 rs1227337681 |
97 | H>N | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA343173019 rs1165541553 |
98 | F>S | No |
ClinGen gnomAD |
|
|
COSM1295478 rs1244787278 CA343173032 |
99 | D>H | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA343173054 rs1196521742 |
100 | L>H | No |
ClinGen TOPMed |
|
|
rs372532398 CA1241974 |
103 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1241976 rs776681630 |
104 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1456363260 CA343173231 |
107 | K>T | No |
ClinGen gnomAD |
|
|
CA1241992 rs746984414 |
108 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770871064 CA1241993 |
109 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA343173375 rs1486419438 |
110 | V>E | No |
ClinGen gnomAD |
|
|
rs781342399 CA1241994 |
111 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32528250 rs374521853 |
112 | S>C | No |
ClinGen ESP TOPMed |
|
|
CA32528252 rs919125756 |
113 | I>T | No |
ClinGen TOPMed |
|
|
CA1241995 rs746006424 |
113 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770117618 CA1241996 COSM530562 |
114 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1241998 rs148886711 |
115 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs72549339 CA1242000 |
116 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs72549339 CA343173409 |
116 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762403469 CA1242001 |
116 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs72549339 CA1241999 |
116 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276577349 CA343173423 |
118 | D>E | No |
ClinGen gnomAD |
|
|
rs376891289 CA1242002 |
118 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343173425 rs1453855589 |
119 | F>I | No |
ClinGen TOPMed |
|
|
CA343173438 rs1354007500 |
120 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA343173436 rs1354007500 |
120 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1266983673 CA343173441 |
121 | E>A | No |
ClinGen gnomAD |
|
|
rs142319717 CA1242004 |
121 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1242006 rs368144728 |
122 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs560646416 CA343173454 |
123 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343173452 rs1246695775 |
123 | G>C | No |
ClinGen gnomAD |
|
|
rs560646416 CA1242007 |
123 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758152278 CA343173482 |
127 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758152278 CA1242008 |
127 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242009 COSM3802836 rs777570552 |
131 | T>A | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA32528367 rs944061460 |
131 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs952652080 CA32528372 |
132 | E>D | No |
ClinGen gnomAD |
|
|
rs751444772 CA1242010 |
133 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527933354 CA1242011 |
135 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146361391 CA1242012 |
135 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1242013 rs746015058 |
137 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338446961 CA343173555 COSM677185 |
138 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs769883122 CA1242014 |
139 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343173561 rs1558036803 |
140 | F>V | No |
ClinGen Ensembl |
|
|
rs1215631772 CA343173574 |
141 | D>E | No |
ClinGen gnomAD |
|
|
rs780461281 CA1242015 |
141 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32528430 rs199648085 |
146 | C>Y | No |
ClinGen Ensembl |
|
|
rs927128151 CA32528434 |
147 | T>A | No |
ClinGen Ensembl |
|
|
rs1189727804 CA343173624 |
149 | H>P | No |
ClinGen gnomAD |
|
|
CA343173621 rs1464513369 |
149 | H>Y | No |
ClinGen gnomAD |
|
|
CA343173631 rs1264506245 |
150 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343173653 rs1558036887 |
153 | P>L | No |
ClinGen Ensembl |
|
|
rs1187331968 CA343173652 |
153 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1242018 rs774861543 |
154 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769093149 CA1242017 |
154 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA343173681 rs549051004 |
156 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1242019 rs549051004 |
156 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772696218 CA1242020 |
159 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343173727 rs1395210968 |
160 | F>S | No |
ClinGen gnomAD |
|
|
rs538568056 CA1242039 |
162 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368598997 CA1242040 |
164 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs932694481 CA32534942 |
171 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343175087 rs1244677843 |
172 | H>R | No |
ClinGen TOPMed |
|
|
rs747496222 CA1242041 |
172 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32534953 rs867850762 |
173 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 175 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32534957 rs904483581 |
175 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA343175188 rs1571405106 |
177 | K>E | No |
ClinGen Ensembl |
|
|
CA1242042 rs769240880 |
179 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 180 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343175266 rs1299134308 |
181 | G>S | No |
ClinGen TOPMed |
|
|
CA1242044 rs774988951 |
181 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763791320 CA1242046 |
182 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs553652535 CA1242047 |
183 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1242049 rs767244751 COSM1336201 |
186 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA32534993 rs752631143 |
186 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs200809129 CA1242050 |
187 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1242051 rs755024785 |
188 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242052 rs368666375 |
188 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1370171768 CA343175402 |
189 | V>M | No |
ClinGen gnomAD |
|
|
rs1300116587 CA343175453 |
192 | L>I | No |
ClinGen gnomAD |
|
|
CA1242054 rs201591723 |
195 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA32535015 rs781456535 |
196 | G>R | No |
ClinGen Ensembl |
|
|
rs557299834 CA1242056 |
199 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343175606 rs1226645136 |
199 | I>V | No |
ClinGen gnomAD |
|
|
CA1242057 rs758743495 |
201 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343175677 rs1221664364 |
203 | L>F | No |
ClinGen TOPMed |
|
|
rs1244655500 CA343175687 |
204 | S>G | No |
ClinGen gnomAD |
|
|
CA1242058 rs150913971 |
204 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1242060 rs373804650 COSM207912 |
205 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138259447 CA1242061 |
205 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs574075361 CA1242062 |
206 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558040789 CA343175782 |
209 | Q>P | No |
ClinGen Ensembl |
|
|
rs1558040789 CA343175785 |
209 | Q>R | No |
ClinGen Ensembl |
|
|
CA1242086 rs770882505 |
210 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343175932 rs1448734992 |
213 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343175929 rs1448734992 |
213 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1242088 rs145946675 |
214 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1242089 rs148682062 |
217 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763219496 CA1242091 |
220 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000891445 rs61747501 CA1242092 |
221 | L>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376908107 CA1242093 |
222 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376908107 CA343176096 |
222 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1242094 rs147680748 |
223 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs190463354 CA1242095 |
223 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343176112 rs1358907730 |
224 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 227 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314307362 CA343176149 |
228 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343176159 rs1348284222 |
229 | Y>H | No |
ClinGen gnomAD |
|
|
rs1352236197 CA343176222 |
233 | M>I | No |
ClinGen gnomAD |
|
|
rs1279687796 CA343176212 |
233 | M>V | No |
ClinGen gnomAD |
|
|
CA32535993 rs886598373 |
234 | M>I | No |
ClinGen Ensembl |
|
|
rs1217343698 CA343176240 |
235 | V>F | No |
ClinGen gnomAD |
|
|
rs1485850069 CA343176292 |
239 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs532183323 CA1242097 |
240 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 242 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259866933 CA343176385 |
244 | A>V | No |
ClinGen gnomAD |
|
|
rs202193153 CA1242098 |
245 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181374943 CA343176406 |
246 | V>L | No |
ClinGen gnomAD |
|
|
rs747660192 CA1242100 |
247 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777252508 CA1242101 |
248 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1242102 rs200263204 |
250 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770794489 CA1242103 |
250 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1242104 rs770794489 |
250 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175995926 CA343176516 |
253 | N>S | No |
ClinGen gnomAD |
|
|
CA1242106 rs769682113 |
255 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775613281 CA1242108 |
265 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA32536108 rs1013093924 |
266 | H>Q | No |
ClinGen Ensembl |
|
|
rs61753345 CA32536106 |
266 | H>Y | No |
ClinGen Ensembl |
|
|
CA1242110 rs559561190 |
267 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343177129 rs1268871901 |
274 | T>S | No |
ClinGen TOPMed |
|
|
CA1242113 rs762035221 |
275 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA343177733 rs1274637242 |
277 | K>E | No |
ClinGen gnomAD |
|
|
CA1242126 rs781125343 |
280 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011072210 CA32537411 |
281 | F>L | No |
ClinGen TOPMed |
|
|
CA32537419 rs956960816 |
282 | I>F | No |
ClinGen Ensembl |
|
|
CA343177824 rs1341812378 |
282 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343177870 rs769736989 |
285 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769736989 COSM123200 CA1242128 |
285 | D>N | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1272564450 CA343177906 |
287 | L>M | No |
ClinGen gnomAD |
|
|
rs775247461 CA1242129 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1246755064 CA343177951 |
289 | N>D | No |
ClinGen gnomAD |
|
|
rs537208861 CA1242130 |
292 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA343178021 rs1166270928 |
292 | L>P | No |
ClinGen TOPMed |
|
|
rs1428271188 CA343178045 |
294 | G>R | No |
ClinGen gnomAD |
|
|
CA32537435 rs867902199 |
295 | A>T | No |
ClinGen Ensembl |
|
|
CA343178085 rs768559319 |
296 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1242131 rs768559319 |
296 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1242134 rs767784790 |
298 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762017210 CA1242133 |
298 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs774417198 CA1242132 |
298 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343178129 rs773536271 |
299 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242135 rs773536271 |
299 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32537483 rs981838876 |
300 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA32537498 rs756978964 |
301 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573059844 COSM1336205 CA1242137 |
302 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs142455994 CA32537527 |
303 | I>M | No |
ClinGen ESP |
|
|
CA1242138 rs754244016 |
303 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1022438335 CA32537532 |
304 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1022438335 CA343178209 |
304 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 305 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242139 rs3737925 VAR_049090 |
308 | T>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1215691181 CA343178332 |
311 | V>I | No |
ClinGen gnomAD |
|
|
CA343178352 rs1204618287 |
312 | F>S | No |
ClinGen TOPMed |
|
|
CA343178375 rs1483501462 |
314 | D>G | No |
ClinGen TOPMed |
|
|
rs1266750254 CA343178373 |
314 | D>Y | No |
ClinGen gnomAD |
|
|
rs1485867043 CA343178404 |
316 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343178431 rs1264214531 |
317 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 317 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751176716 CA1242141 |
318 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756951706 CA1242142 |
319 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343178473 rs1197814521 |
320 | N>Y | No |
ClinGen gnomAD |
|
|
CA343178491 rs1244791411 |
321 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs139018321 CA1242144 |
322 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781027440 CA1242143 |
322 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1042767 VAR_015368 CA1242147 |
323 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1242146 rs779909399 |
323 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242148 rs768646263 |
327 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774400664 CA1242149 |
331 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748266769 COSM207913 CA1242150 |
333 | S>Y | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1356385554 CA343178702 |
334 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 337 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286598085 CA343178832 |
339 | E>D | No |
ClinGen gnomAD |
|
|
CA1242151 rs61342270 VAR_015369 |
339 | E>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773375083 CA1242152 |
340 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1242154 rs771136767 |
341 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474061718 CA343178930 |
343 | S>N | No |
ClinGen TOPMed |
|
|
rs931705009 CA32537595 |
344 | L>P | No |
ClinGen Ensembl |
|
|
rs545819580 CA32537597 |
345 | C>F | No |
ClinGen Ensembl |
|
|
rs1263035771 CA343178947 |
345 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1254204856 CA343179076 |
349 | I>R | No |
ClinGen TOPMed |
|
|
rs759950250 CA1242157 |
349 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs369627919 CA343179084 |
350 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369627919 CA1242158 |
350 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242160 rs761364294 |
353 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432420783 CA343179166 |
355 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242161 rs767155472 |
356 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 358 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749983842 CA1242162 |
359 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144578261 CA1242164 |
363 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144578261 CA1242163 |
363 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343179295 rs1376280513 |
365 | L>I | No |
ClinGen gnomAD |
|
|
rs147618632 COSM3735943 CA1242166 |
366 | A>P | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1242167 rs200142632 |
368 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747190267 CA1242171 |
369 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1242169 rs144698111 |
369 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144698111 CA1242170 |
369 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_022305 CA1242173 rs45599742 RCV000969927 |
372 | G>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770318102 CA1242175 |
374 | K>* | No |
ClinGen ExAC |
|
|
rs1350510661 CA343179414 |
375 | G>R | No |
ClinGen gnomAD |
|
|
rs776094653 CA1242176 |
377 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1387060828 CA343179450 |
377 | I>N | No |
ClinGen TOPMed |
|
|
CA343179488 rs1477621968 |
380 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1011605442 CA32537749 |
380 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1242177 rs763571421 |
382 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1242178 rs767071769 |
385 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242179 rs373453446 |
386 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201465482 CA1242180 |
386 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1427601789 CA343179583 |
387 | W>C | No |
ClinGen gnomAD |
|
|
CA343179575 rs1396615524 |
387 | W>L | No |
ClinGen gnomAD |
|
|
rs1247571550 CA343179620 |
389 | T>I | No |
ClinGen TOPMed |
|
|
rs754718059 CA1242183 |
390 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA343179633 rs1463635495 |
390 | R>S | No |
ClinGen TOPMed |
|
|
CA32537845 rs1003206756 |
391 | V>I | No |
ClinGen TOPMed |
|
|
rs1003206756 CA343179637 |
391 | V>L | No |
ClinGen TOPMed |
|
|
CA1242184 rs778691681 |
392 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343180340 rs1274967720 |
397 | K>Q | No |
ClinGen gnomAD |
|
|
rs1222099767 CA343180399 |
398 | I>M | No |
ClinGen TOPMed |
|
|
rs1214996948 CA343180390 |
398 | I>T | No |
ClinGen gnomAD |
|
|
CA343180381 rs1463532189 |
398 | I>V | No |
ClinGen gnomAD |
|
|
CA343180436 rs1242416034 |
399 | P>L | No |
ClinGen gnomAD |
|
|
rs1372712616 CA343180450 |
400 | P>S | No |
ClinGen TOPMed |
|
|
CA1242208 rs751478744 |
402 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1242211 rs746024147 |
405 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1447416243 COSM424587 CA343180750 |
407 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1242212 rs144924333 |
408 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460763438 CA343180845 |
409 | T>S | No |
ClinGen TOPMed |
|
|
CA1242213 rs780555012 |
413 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 414 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242214 rs749720900 |
416 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1242234 rs530035886 |
418 | G>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs74607987 CA1242235 RCV000898213 |
421 | K>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755311415 CA1242236 |
421 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1242237 rs779150155 |
423 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1242239 rs776355579 |
424 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242240 rs780656682 |
425 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242241 rs745420090 |
429 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1300006451 CA343182839 |
431 | I>L | No |
ClinGen TOPMed |
|
|
rs1363658220 CA343182938 |
433 | Y>C | No |
ClinGen TOPMed |
|
|
CA1242245 rs768434431 |
434 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762531063 CA1242244 |
434 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1242246 rs774083463 |
435 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1242248 rs145091548 |
438 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1242250 rs760797954 |
442 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314406490 CA343183331 |
444 | K>N | No |
ClinGen gnomAD |
|
|
CA343183343 rs1195454309 |
445 | P>A | No |
ClinGen gnomAD |
|
|
CA1242251 rs571605691 |
449 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571605691 CA1242252 |
449 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1459168057 CA343183470 |
450 | L>P | No |
ClinGen gnomAD |
|
|
CA343183475 rs779320943 |
451 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1242254 rs779320943 |
451 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1242255 rs753049557 |
451 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242256 rs758903695 |
452 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1689175 rs778209085 CA1242257 |
454 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs780188433 CA32542602 |
454 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1242258 rs747532713 |
456 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779547888 CA1242261 |
460 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32542617 rs1010631517 |
460 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343183809 rs1223604092 |
462 | F>L | No |
ClinGen TOPMed |
|
|
rs144673669 CA1242263 |
463 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343183913 rs1226918515 |
464 | G>E | No |
ClinGen gnomAD |
|
|
rs1231575314 CA343183961 |
466 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1320065800 CA343183952 |
466 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1231575314 CA343183970 |
466 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA343184024 rs1273103273 |
467 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242264 rs774175010 |
468 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1242266 rs371939085 |
472 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148222001 CA1242267 |
472 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1242268 rs760692543 |
474 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1242269 rs150724060 |
476 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1242270 rs753922065 |
477 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs761585310 CA32542665 |
479 | W>* | No |
ClinGen Ensembl |
|
|
CA343184273 rs1425283648 |
479 | W>R | No |
ClinGen TOPMed |
|
|
rs1487980598 CA343184306 |
480 | D>H | No |
ClinGen Ensembl |
|
|
rs759781175 CA1242271 |
481 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 486 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343184464 rs1156771770 |
488 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1242272 rs765415005 |
490 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242273 rs143713856 |
492 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343184572 rs1342687646 |
493 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1242274 rs758709702 |
493 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764452020 CA1242276 |
494 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs764452020 CA1242275 |
494 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs375299942 CA1242277 |
496 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571418663 CA343184763 |
499 | T>P | No |
ClinGen Ensembl |
|
|
CA1242279 rs145740321 |
500 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748800692 CA343184794 |
500 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242280 COSM207914 rs748800692 |
500 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343184800 rs1206138640 |
501 | I>T | No |
ClinGen gnomAD |
|
|
CA343184820 rs1571418703 |
502 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 502 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547773096 CA1242281 |
504 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343184862 rs1264858587 |
504 | D>H | No |
ClinGen gnomAD |
|
|
CA343184881 rs1186784868 |
505 | S>C | No |
ClinGen gnomAD |
|
|
CA343184876 rs1571418726 |
505 | S>P | No |
ClinGen Ensembl |
|
|
CA32542733 rs909729685 |
506 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1242283 rs747858852 |
511 | M>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 511 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs963535946 CA32542743 |
513 | H>R | No |
ClinGen gnomAD |
|
|
CA1242284 rs149704605 |
515 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343185067 rs773207586 |
517 | A>P | No |
ClinGen ExAC TOPMed |
|
|
CA1242286 rs773207586 |
517 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA343185078 rs1160297459 |
517 | A>V | No |
ClinGen gnomAD |
|
|
CA1242289 rs369590128 |
518 | W>* | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1284055613 CA343185081 |
518 | W>G | No |
ClinGen TOPMed |
|
|
CA343185084 rs746928621 |
518 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1284055613 CA343185080 |
518 | W>R | No |
ClinGen TOPMed |
|
|
rs746928621 CA1242288 |
518 | W>S | No |
ClinGen ExAC gnomAD |
|
| rs770011693 | 520 | A>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772753816 CA343185110 |
520 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772753816 CA1242290 |
520 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242291 rs759492132 |
520 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1397913954 CA343185120 |
521 | P>S | No |
ClinGen gnomAD |
|
|
rs1315905234 COSM239894 CA343185148 |
522 | V>F | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 523 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775513653 CA343185185 |
525 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775513653 CA1242293 |
525 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs569945058 CA32542822 |
526 | S>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA343185196 rs1209645186 |
526 | S>F | No |
ClinGen gnomAD |
|
|
CA343185224 rs1175040665 |
528 | L>P | No |
ClinGen gnomAD |
|
|
rs1483928943 CA343185221 |
528 | L>V | No |
ClinGen gnomAD |
|
|
CA1242296 rs751981160 |
530 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA343185277 rs1180438107 |
533 | S>P | No |
ClinGen gnomAD |
|
|
CA32542871 rs979718811 |
534 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA343185291 rs979718811 |
534 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000961323 CA1242297 rs75661671 |
534 | S>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs45487792 CA1242298 VAR_022306 |
536 | F>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1398072927 CA343185315 |
536 | F>L | No |
ClinGen gnomAD |
|
|
rs1173227293 CA343185321 |
537 | L>* | No |
ClinGen gnomAD |
|
|
rs750972952 CA1242299 |
541 | R>S | No |
ClinGen ExAC |
|
|
CA343185358 rs1360011832 |
541 | R>T | No |
ClinGen gnomAD |
|
|
rs148854023 CA1242301 |
542 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343185362 rs1466048320 |
542 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1296461722 CA343185371 |
543 | K>T | No |
ClinGen gnomAD |
|
|
rs45528740 VAR_022307 CA32542949 |
544 | L>R | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA1242302 rs747797120 |
548 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA32542953 rs938589120 |
548 | M>R | No |
ClinGen Ensembl |
|
|
rs758181610 CA1242303 |
549 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1242306 rs200262164 |
553 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1201982453 CA343185442 |
554 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 555 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323144332 CA343185454 |
556 | W>R | No |
ClinGen TOPMed |
|
|
rs776381577 CA1242307 |
557 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1242308 rs745827392 |
557 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346965744 CA343185473 |
559 | G>R | No |
ClinGen TOPMed |
No associated diseases with P31512
No regional properties for P31512
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P31512 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| energy homeostasis | Any process involved in the balance between food intake (energy input) and energy expenditure. |
| negative regulation of fatty acid oxidation | Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation. |
| xenobiotic catabolic process | The chemical reactions and pathways resulting in the breakdown of 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 |
|---|---|---|---|---|
| P49326 | FMO5 | Flavin-containing monooxygenase 5 | 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 |
| P97872 | Fmo5 | Flavin-containing monooxygenase 5 | Mus musculus (Mouse) | PR |
| Q8VHG0 | Fmo4 | Dimethylaniline monooxygenase [N-oxide-forming] 4 | Mus musculus (Mouse) | 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 |
| Q8K4B7 | Fmo4 | Dimethylaniline monooxygenase [N-oxide-forming] 4 | 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 |
| MAKKVAVIGA | GVSGLSSIKC | CVDEDLEPTC | FERSDDIGGL | WKFTESSKDG | MTRVYKSLVT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NVCKEMSCYS | DFPFHEDYPN | FMNHEKFWDY | LQEFAEHFDL | LKYIQFKTTV | CSITKRPDFS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ETGQWDVVTE | TEGKQNRAVF | DAVMVCTGHF | LNPHLPLEAF | PGIHKFKGQI | LHSQEYKIPE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFQGKRVLVI | GLGNTGGDIA | VELSRTAAQV | LLSTRTGTWV | LGRSSDWGYP | YNMMVTRRCC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SFIAQVLPSR | FLNWIQERKL | NKRFNHEDYG | LSITKGKKAK | FIVNDELPNC | ILCGAITMKT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVIEFTETSA | VFEDGTVEEN | IDVVIFTTGY | TFSFPFFEEP | LKSLCTKKIF | LYKQVFPLNL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ERATLAIIGL | IGLKGSILSG | TELQARWVTR | VFKGLCKIPP | SQKLMMEATE | KEQLIKRGVF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KDTSKDKFDY | IAYMDDIAAC | IGTKPSIPLL | FLKDPRLAWE | VFFGPCTPYQ | YRLMGPGKWD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GARNAILTQW | DRTLKPLKTR | IVPDSSKPAS | MSHYLKAWGA | PVLLASLLLI | CKSSLFLKLV |
| 550 | |||||
| RDKLQDRMSP | YLVSLWRG |