Q3SY77
Gene name |
UGT3A2 (PSEC0073, UNQ842/PRO1780) |
Protein name |
UDP-glucuronosyltransferase 3A2 |
Names |
UDPGT 3A2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:167127 |
EC number |
2.4.1.17: Hexosyltransferases |
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 Q3SY77
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q3SY77-F1 | Predicted | AlphaFoldDB |
463 variants for Q3SY77
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA116979305 rs199849202 |
3 | G>R | No |
ClinGen 1000Genomes |
|
|
CA3233415 rs759191879 |
5 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359452740 rs770447742 |
7 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233413 rs770447742 |
7 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910400010 CA116979283 |
8 | L>I | No |
ClinGen TOPMed |
|
|
CA359452654 rs1330865660 |
12 | F>L | No |
ClinGen gnomAD |
|
|
CA3233412 rs375530598 |
13 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 13 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116979260 rs550909567 |
16 | G>A | No |
ClinGen Ensembl |
|
|
rs923374620 CA116979259 |
18 | L>V | No |
ClinGen TOPMed |
|
|
CA3233410 rs769204521 |
19 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464118226 CA359452143 |
22 | A>G | No |
ClinGen gnomAD |
|
|
CA359452148 rs1323552471 |
22 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581025348 CA359452125 |
24 | K>Q | No |
ClinGen Ensembl |
|
|
CA3233406 rs746126883 |
24 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs977531356 CA116979210 |
27 | T>A | No |
ClinGen TOPMed |
|
|
rs1375740491 CA359452038 |
28 | I>T | No |
ClinGen gnomAD |
|
|
rs781518061 CA3233405 |
29 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751652331 CA3233403 |
30 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359451999 rs751652331 |
30 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581025306 CA359451987 |
31 | V>I | No |
ClinGen Ensembl |
|
|
CA359451973 rs1181009655 |
32 | G>S | No |
ClinGen TOPMed |
|
|
rs771130869 CA3233369 |
32 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA359451163 rs1581023020 |
33 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 33 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233367 rs773257042 |
36 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233365 rs748194896 |
38 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148598772 CA3233364 |
39 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376751323 CA116977403 CA3233363 |
40 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359451022 rs1426480512 |
40 | D>Y | No |
ClinGen gnomAD |
|
|
CA3233361 rs779830544 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531312336 CA3233362 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374474947 CA359450981 |
42 | V>I | No |
ClinGen gnomAD |
|
|
CA116977307 rs867490183 |
43 | S>F | No |
ClinGen gnomAD |
|
|
CA3233359 rs750115745 |
45 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA359450906 rs1262957157 |
45 | I>T | No |
ClinGen gnomAD |
|
|
CA3233358 rs767058715 |
46 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756836278 CA3233357 |
46 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217629130 CA359450882 |
47 | Q>E | No |
ClinGen TOPMed |
|
|
CA359450845 rs904248316 CA116977246 |
48 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751097119 CA3233356 |
48 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271958373 CA359450828 |
49 | H>P | No |
ClinGen gnomAD |
|
|
CA359450834 rs1219050309 |
49 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359450812 rs1340045622 |
50 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233354 rs367549878 |
52 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3233353 rs144849865 |
52 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766788051 CA3233352 |
53 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1322775972 CA359450724 |
54 | T>I | No |
ClinGen gnomAD |
|
|
CA359450683 rs1561499442 |
57 | N>D | No |
ClinGen Ensembl |
|
|
CA3233350 rs773523583 |
58 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1239295168 CA359450641 |
59 | K>R | No |
ClinGen TOPMed |
|
|
rs777551593 CA359450634 |
60 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs777551593 CA116977239 COSM1543636 |
60 | R>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3233349 rs149440895 |
61 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755622666 CA3233348 |
65 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767865883 CA3233330 |
66 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1478990635 CA359450598 |
66 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561494349 CA359448843 |
70 | E>G | No |
ClinGen Ensembl |
|
|
rs1477335931 CA359448817 |
72 | K>E | No |
ClinGen gnomAD |
|
|
rs555819548 CA3233327 |
74 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1236631509 CA359448787 |
74 | Y>C | No |
ClinGen gnomAD |
|
|
VAR_057329 CA3233328 rs2197514 |
74 | Y>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3233326 rs147312187 |
76 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359448739 rs1277659685 |
78 | S>C | No |
ClinGen gnomAD |
|
|
rs775541741 CA3233325 |
81 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA116969775 rs868104722 |
83 | E>K | No |
ClinGen TOPMed |
|
|
rs952519224 CA116969765 |
84 | D>G | No |
ClinGen TOPMed |
|
|
rs745757904 CA3233324 |
84 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3233323 rs745757904 |
84 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs896235717 CA116969756 |
86 | Q>E | No |
ClinGen Ensembl |
|
|
rs780849938 CA3233322 |
86 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261848267 CA359448594 COSM1067587 |
88 | E>* | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3233321 rs770806914 |
91 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA359448541 rs143985161 |
91 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143985161 CA3233320 |
91 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338087800 CA359448532 |
92 | S>G | No |
ClinGen gnomAD |
|
|
rs138403099 CA3233319 |
93 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1358159826 CA359448495 |
94 | D>Y | No |
ClinGen gnomAD |
|
|
COSM737935 CA3233318 rs758020113 |
95 | F>L | lung endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1581009562 CA359448480 |
95 | F>Y | No |
ClinGen Ensembl |
|
|
CA359448446 rs1413119873 |
98 | E>Q | No |
ClinGen gnomAD |
|
|
CA359448430 rs1382744439 |
99 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1159761749 CA359448407 |
100 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233317 rs752144072 |
102 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581009535 CA359448372 |
103 | G>D | No |
ClinGen Ensembl |
|
|
rs1378578574 CA359448364 |
104 | R>K | No |
ClinGen gnomAD |
|
|
rs775423430 CA3233304 |
106 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1180309950 CA359447353 |
107 | F>L | No |
ClinGen gnomAD |
|
|
CA3233303 rs769841495 |
109 | N>K | No |
ClinGen ExAC |
|
|
rs933102587 CA116968287 |
109 | N>S | No |
ClinGen Ensembl |
|
|
rs1263639511 CA359447309 |
110 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1263639511 CA359447310 |
110 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3233302 rs759420610 |
110 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA359447282 rs1487303008 |
112 | N>S | No |
ClinGen gnomAD |
|
|
CA3233301 rs776579899 |
113 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3233300 rs770896855 |
116 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233299 rs746767329 |
118 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233298 rs777635217 |
118 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3233296 rs747779019 |
119 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA3233295 rs778291377 |
120 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368967368 CA3233294 |
122 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 123 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 125 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359447069 rs200862040 |
127 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233293 rs200862040 |
127 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757661649 CA3233291 |
129 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295766114 CA359447039 |
129 | D>G | No |
ClinGen gnomAD |
|
|
rs751921593 CA3233290 |
131 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 132 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116968231 rs866768751 |
133 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3233287 rs199580801 |
138 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359446952 rs765252565 |
139 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359446948 rs1404717756 |
140 | D>G | No |
ClinGen TOPMed |
|
|
CA3233285 rs147471382 COSM1437204 |
140 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373941790 CA3233284 |
141 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359446942 rs1269437522 |
141 | M>V | No |
ClinGen gnomAD |
|
|
CA359446925 rs1581006969 |
143 | I>M | No |
ClinGen Ensembl |
|
|
CA3233283 rs766413574 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3233282 rs370464634 |
144 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116968198 rs955964123 |
146 | T>I | No |
ClinGen Ensembl |
|
|
CA359446909 rs1213724324 |
146 | T>S | No |
ClinGen TOPMed |
|
|
rs981891774 CA116968182 |
147 | F>L | No |
ClinGen TOPMed |
|
|
CA359446880 rs1318228530 |
150 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359446879 rs1318228530 |
150 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771927009 CA3233280 |
151 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1316421879 CA359446856 |
154 | I>V | No |
ClinGen gnomAD |
|
|
rs201768029 CA116968174 |
157 | K>E | No |
ClinGen 1000Genomes |
|
|
CA359446831 rs1303795808 |
157 | K>N | No |
ClinGen gnomAD |
|
|
rs199701531 CA116968167 |
157 | K>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 158 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233279 rs747788157 |
160 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA116968152 rs200161378 |
161 | P>S | No |
ClinGen 1000Genomes |
|
|
rs201133636 CA3233278 |
162 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3233277 rs768101605 |
162 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA359446797 rs1561493132 |
163 | V>L | No |
ClinGen Ensembl |
|
|
CA3233276 rs201973810 |
164 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3233275 rs781715759 |
165 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233273 rs757751722 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA359446768 rs1186193888 |
168 | T>N | No |
ClinGen TOPMed |
|
|
rs1012901494 CA116968054 |
169 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs148290056 CA359446754 |
170 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3233271 rs778137539 |
171 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359446748 rs1412201544 |
171 | G>V | No |
ClinGen TOPMed |
|
|
rs1016948357 CA116968045 |
175 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 176 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 177 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561493065 CA359446705 |
178 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs970432116 CA116968024 |
179 | I>L | No |
ClinGen Ensembl |
|
|
CA3233267 rs758737558 |
179 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775535481 CA116967995 |
180 | P>A | No |
ClinGen Ensembl |
|
|
rs143229405 CA116967947 |
181 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753953855 CA3233260 |
181 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs760693903 CA3233259 |
183 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359446676 rs1242466765 |
183 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773246032 CA3233257 |
184 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3233256 rs767240312 |
186 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3233255 rs761649425 |
188 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs542105516 CA3233253 |
188 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs542105516 CA3233254 |
188 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359446647 rs542105516 |
188 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA116967901 rs962866525 |
190 | L>F | No |
ClinGen Ensembl |
|
|
rs748810833 CA3233251 |
194 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015699605 CA116967880 |
195 | M>V | No |
ClinGen gnomAD |
|
|
rs1176175331 CA359446595 |
196 | D>V | No |
ClinGen gnomAD |
|
|
rs200492917 CA3233249 |
197 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359446575 rs373202259 |
198 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233248 rs373202259 |
198 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116967847 rs534081164 |
199 | G>D | No |
ClinGen Ensembl |
|
|
rs747532928 CA3233247 |
200 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778227549 CA359446549 |
200 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778227549 CA3233246 |
200 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758727607 CA3233245 |
201 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362071944 CA359446535 |
202 | K>E | No |
ClinGen TOPMed |
|
|
CA3233243 rs140849209 |
203 | N>S | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 207 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359446454 rs1420045329 |
208 | F>L | No |
ClinGen TOPMed |
|
|
CA3233242 rs188626248 |
209 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA116967831 rs200143414 |
212 | R>G | No |
ClinGen 1000Genomes |
|
|
rs754046477 CA3233241 |
213 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275430791 CA359446355 |
215 | Q>* | No |
ClinGen TOPMed |
|
|
CA359446339 rs1399820061 |
216 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA359446341 rs1399820061 |
216 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756215413 CA3233239 |
217 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3233238 rs750436273 |
218 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1359812373 CA359446297 |
219 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1359812373 CA359446299 |
219 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767460678 CA3233237 COSM1567705 |
222 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs149119039 CA3233236 |
227 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3233235 rs751359546 |
228 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368737720 CA359446171 |
228 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3233234 rs763742950 |
229 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3233232 rs775070527 |
230 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3233233 rs371024924 |
230 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 232 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285924410 CA359446113 COSM737939 |
232 | G>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3233230 rs759012575 |
233 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1266054914 CA359446048 |
237 | L>F | No |
ClinGen gnomAD |
|
|
CA3233228 rs772618521 |
237 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA359446035 rs1200210224 |
238 | S>F | No |
ClinGen Ensembl |
|
|
rs1038821133 CA116967702 |
239 | H>N | No |
ClinGen Ensembl |
|
|
rs1581006367 CA359445993 |
242 | L>M | No |
ClinGen Ensembl |
|
|
CA116967652 rs914432122 |
242 | L>P | No |
ClinGen Ensembl |
|
|
CA359445960 rs1581006346 |
244 | A>V | No |
ClinGen Ensembl |
|
|
CA3233223 rs749544190 |
246 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359445896 rs1324061394 |
247 | W>* | No |
ClinGen TOPMed |
|
|
rs1406968907 CA359445881 |
248 | F>Y | No |
ClinGen gnomAD |
|
|
rs867142033 CA116967627 |
249 | I>F | No |
ClinGen Ensembl |
|
|
rs756305357 CA3233221 |
249 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376505363 CA116967611 |
250 | N>S | No |
ClinGen Ensembl |
|
|
rs750530039 CA3233220 |
254 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs377548325 CA3233219 |
256 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs576370461 CA116967582 |
257 | F>L | No |
ClinGen Ensembl |
|
|
rs757235597 CA3233218 |
259 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751390642 CA3233217 |
259 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762711271 CA3233215 |
263 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369380827 CA3233213 |
264 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557011424 CA3233212 |
265 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3233210 rs770280220 |
268 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774672883 CA3233208 |
269 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233207 rs769193511 |
270 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359445446 rs1331554068 |
272 | M>I | No |
ClinGen gnomAD |
|
|
rs749641114 CA3233206 |
272 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA359445421 rs1338252056 |
273 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs928578945 CA116967527 |
281 | Q>K | No |
ClinGen Ensembl |
|
|
rs776013019 CA3233187 |
282 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1274631351 CA359442913 |
282 | D>Y | No |
ClinGen TOPMed |
|
|
CA359442901 rs1343413677 |
284 | E>K | No |
ClinGen TOPMed |
|
|
CA3233186 rs770220265 |
285 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233182 rs747052753 |
286 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs372919271 CA3233183 |
286 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372919271 CA3233184 |
286 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3233181 rs777822581 |
287 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168205166 CA359442880 |
287 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1013895221 CA116962389 |
288 | A>V | No |
ClinGen TOPMed |
|
|
CA3233179 rs758344265 |
290 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs748011025 CA3233178 |
291 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748011025 CA359442834 |
291 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs778710039 CA3233177 |
292 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231394671 CA359442788 |
294 | G>V | No |
ClinGen gnomAD |
|
|
CA359442615 rs1561489303 |
299 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359442593 rs1580996737 |
301 | G>D | No |
ClinGen Ensembl |
|
|
CA3233173 rs755718384 |
303 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA359442575 rs765917890 |
303 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233174 rs765917890 |
303 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355677778 CA359442544 |
304 | V>A | No |
ClinGen gnomAD |
|
|
CA3233172 rs543032952 |
306 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543032952 CA3233171 |
306 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3233169 rs574500006 |
307 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359442489 rs1285571193 |
307 | C>Y | No |
ClinGen gnomAD |
|
|
CA3233168 rs765723414 |
310 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765723414 CA359442417 |
310 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771057116 CA359442399 |
311 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771057116 CA3233165 |
311 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776973440 CA3233166 |
311 | E>Q | No |
ClinGen ExAC |
|
|
rs773294924 CA3233163 |
315 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772091135 CA3233162 |
316 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA359442300 rs1159400446 |
316 | M>V | No |
ClinGen gnomAD |
|
|
CA116962344 rs373318135 |
317 | N>I | No |
ClinGen Ensembl |
|
|
rs937082434 CA359442273 |
317 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs375962406 CA3233160 |
318 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778791486 CA3233159 |
319 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749021510 CA359442221 |
321 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3233158 rs768544598 |
321 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749021510 CA3233157 |
321 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs146695537 CA3233156 |
322 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359442218 rs1008549031 |
322 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA116962308 rs1008549031 |
322 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 325 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 326 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780867871 CA3233153 |
327 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753310477 CA3233151 CA359442086 |
330 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA116962263 rs1050097660 |
332 | Q>H | No |
ClinGen TOPMed |
|
|
CA359442021 rs1342982294 |
335 | H>Y | No |
ClinGen gnomAD |
|
|
CA3233148 rs149684501 |
336 | W>L | No |
ClinGen ESP ExAC |
|
|
rs760016307 CA3233149 |
336 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3233147 rs766710534 |
338 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM399165 CA359441960 rs1176790244 |
341 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs931681470 CA116962244 |
343 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3233146 rs2591714 |
344 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417397641 CA359441931 |
346 | V>M | No |
ClinGen gnomAD |
|
|
CA3233145 rs773383367 |
347 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359441894 rs761859446 |
348 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1192896876 CA359441871 |
350 | D>G | No |
ClinGen gnomAD |
|
|
rs1043591700 CA116962232 |
350 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359441870 rs1192896876 |
350 | D>V | No |
ClinGen gnomAD |
|
|
rs1407421241 CA359441851 |
351 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1327001189 CA359441842 |
352 | L>F | No |
ClinGen TOPMed |
|
|
rs868312654 CA116962226 |
353 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs187512898 CA3233142 |
354 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 355 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580996390 CA359441794 |
355 | S>R | No |
ClinGen Ensembl |
|
|
CA3233141 rs768471645 |
356 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1221650154 CA359441777 |
357 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs929756013 CA116962212 |
358 | L>M | No |
ClinGen gnomAD |
|
|
rs929756013 CA359441767 |
358 | L>V | No |
ClinGen gnomAD |
|
|
rs1335804786 CA359441756 |
359 | A>P | No |
ClinGen TOPMed |
|
|
CA359441709 rs1434976029 |
359 | A>V | No |
ClinGen TOPMed |
|
|
CA116961443 rs542527700 COSM461986 |
360 | H>Y | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
rs761947299 CA3233126 |
361 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359441700 rs761947299 |
361 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774416990 CA3233125 |
362 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297463253 CA359441684 |
363 | I>S | No |
ClinGen gnomAD |
|
|
rs1383757582 CA359441689 |
363 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs762817377 CA3233123 |
364 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233122 rs375117011 |
364 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 369 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359441643 rs1195626322 |
370 | G>D | No |
ClinGen gnomAD |
|
|
rs200668492 CA116961389 |
370 | G>R | No |
ClinGen gnomAD |
|
|
COSM737941 rs199618002 CA3233117 |
371 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs898735840 CA116961362 |
372 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA359441632 rs1347722822 |
372 | Q>R | No |
ClinGen gnomAD |
|
|
rs777172608 CA3233116 |
373 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 376 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233115 rs757886257 |
376 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359441578 rs1377983076 |
379 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1306537958 CA359441575 |
380 | Q>* | No |
ClinGen gnomAD |
|
|
CA3233114 rs749801006 |
380 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359441561 rs756528102 |
382 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1352347621 CA359441560 |
382 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs756528102 CA3233112 |
382 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434038463 CA359441541 |
385 | M>T | No |
ClinGen gnomAD |
|
|
CA116961350 rs372020561 |
386 | V>M | No |
ClinGen ESP |
|
|
rs578176102 CA3233110 |
387 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558276655 CA3233109 |
389 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142510301 CA3233108 |
389 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116961337 rs142510301 |
389 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425117656 CA359441515 |
390 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3233106 rs764109613 |
392 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs764109613 CA359441499 |
392 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3233104 rs775333917 |
393 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233105 rs763053889 |
393 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3233102 rs759483148 |
394 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765220510 CA3233103 |
394 | Q>R | No |
ClinGen ExAC |
|
|
rs776584560 CA3233101 |
395 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3233100 rs148808619 |
397 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1377322307 COSM1437201 CA359441419 |
398 | M>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs147315371 CA3233099 |
400 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3233098 rs145559473 |
400 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3233097 rs368371626 |
401 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 402 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359441357 rs1561488339 |
403 | A>D | No |
ClinGen Ensembl |
|
|
CA359441333 rs1413936453 |
405 | K>T | No |
ClinGen gnomAD |
|
|
rs1438661079 CA359441284 |
409 | S>A | No |
ClinGen TOPMed |
|
|
CA359441272 rs1353528069 |
410 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs747681249 CA3233096 |
410 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1353528069 CA359441273 |
410 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 413 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359441160 rs1235187617 |
418 | E>Q | No |
ClinGen TOPMed |
|
|
CA3233094 rs756615959 |
419 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3233093 rs746314474 |
421 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3233092 rs781555844 |
422 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781555844 CA116961237 |
422 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368682365 CA359441081 |
424 | M>V | No |
ClinGen gnomAD |
|
|
CA116961222 rs569308019 |
432 | R>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3233064 rs372846961 COSM1543641 |
433 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed |
|
CA559294739 rs1561487673 COSM1543641 |
433 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3233065 rs200827594 |
433 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233066 rs753877719 |
433 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs767158480 CA3233062 |
434 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA3233061 rs61729692 |
435 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA116960235 rs61729692 |
435 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233059 rs61729693 |
436 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767595305 CA116960225 |
436 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1561487615 CA359440418 |
437 | A>S | No |
ClinGen Ensembl |
|
|
rs1580992922 CA359440409 |
438 | V>G | No |
ClinGen Ensembl |
|
|
rs1580992916 CA359440407 |
439 | A>P | No |
ClinGen Ensembl |
|
|
rs771436674 CA3233055 |
440 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3233054 rs747420876 |
441 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA359440391 rs1561487600 |
441 | S>R | No |
ClinGen Ensembl |
|
|
rs149386304 CA3233053 |
445 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA116960198 rs914741137 |
445 | R>H | No |
ClinGen TOPMed |
|
|
CA559294737 rs1205023311 |
446 | S>* | No |
ClinGen gnomAD |
|
|
rs1224030280 CA359440352 |
447 | H>Y | No |
ClinGen TOPMed |
|
|
rs772287712 CA3233052 COSM3410248 |
448 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1469885438 CA359440307 |
450 | S>N | No |
ClinGen TOPMed |
|
|
rs1279058780 CA359440290 |
451 | P>H | No |
ClinGen gnomAD |
|
|
rs755167527 CA3233049 |
453 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201394842 CA3233046 |
454 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573115180 CA3233047 |
454 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1580992809 CA359440246 |
455 | L>V | No |
ClinGen Ensembl |
|
|
rs201308652 CA359440231 |
456 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3233044 rs201308652 |
456 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359440203 rs1164882166 |
458 | W>* | No |
ClinGen TOPMed |
|
|
CA3233042 rs751258976 |
459 | I>V | No |
ClinGen ExAC |
|
|
rs763719470 CA3233041 |
460 | D>E | No |
ClinGen ExAC |
|
|
CA359440177 rs1437188185 |
460 | D>N | No |
ClinGen gnomAD |
|
|
CA3233040 rs774998784 |
461 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3410247 rs545963580 CA3233038 |
462 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3233036 rs773564202 |
466 | G>R | No |
ClinGen ExAC |
|
| TCGA novel | 467 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359440025 rs1178032777 |
467 | G>A | No |
ClinGen gnomAD |
|
|
CA3233032 rs200458466 COSM76948 |
468 | A>T | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1437199 rs769005430 CA3233031 |
468 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA359439990 rs199567567 |
469 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3233029 COSM1486731 rs199567567 |
469 | T>M | lung Variant assessed as Somatic; 0.0 impact. liver central_nervous_system breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3233026 rs780966624 |
470 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3233025 rs150627093 |
474 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA116959980 rs150627093 |
474 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1278215866 CA359439875 |
476 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758072755 CA3233022 |
477 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs752308627 CA3233021 |
477 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs997863699 CA116959949 |
478 | Q>* | No |
ClinGen TOPMed |
|
|
rs1187849740 CA359439814 |
478 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 479 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375280163 CA3233020 |
479 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116959946 rs900905121 |
479 | P>T | No |
ClinGen TOPMed |
|
|
rs899030721 CA116959942 |
480 | W>* | No |
ClinGen gnomAD |
|
|
rs375604328 CA3233019 |
480 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159853137 CA359439745 |
481 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1427385606 CA359439667 |
485 | L>R | No |
ClinGen TOPMed |
|
|
rs767905468 CA3233017 |
486 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1256479975 CA359439634 |
487 | D>G | No |
ClinGen gnomAD |
|
|
rs774867868 CA359439642 |
487 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1067579 CA3233015 rs774867868 |
487 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs555194978 CA359439604 |
488 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555194978 CA3233013 |
488 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1004679607 CA116959913 |
489 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA116959906 rs1051659284 |
494 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3233012 rs138134433 |
494 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769962303 CA3233011 |
495 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772896953 CA116959888 |
498 | G>E | No |
ClinGen Ensembl |
|
|
rs1341597021 CA359439484 |
498 | G>R | No |
ClinGen TOPMed |
|
|
CA3233009 rs145508882 |
499 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145508882 CA3233010 |
499 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359439467 rs900483448 |
500 | L>I | No |
ClinGen gnomAD |
|
|
CA359439465 rs900483448 |
500 | L>V | No |
ClinGen gnomAD |
|
|
rs757142340 CA3233008 |
501 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs746903387 CA3233007 |
502 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777580502 CA3233006 |
502 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3233004 rs376793992 |
504 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758160655 CA3233005 |
504 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200248101 CA359439386 |
505 | K>Q | No |
ClinGen TOPMed |
|
|
CA359439322 rs1416898759 |
508 | G>V | No |
ClinGen gnomAD |
|
|
CA3233003 rs764786019 |
509 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3233002 rs140351412 |
511 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753292837 CA3233001 |
512 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753292837 CA359439266 |
512 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3232999 rs201405999 |
515 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3232997 rs138640717 COSM33002 VAR_036036 |
515 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system a colorectal cancer sample; somatic mutation [Cosmic, NCI-TCGA, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3232998 rs138640717 |
515 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763384831 CA3232996 |
516 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775836223 CA3232995 |
517 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1313712309 CA359439208 |
517 | A>V | No |
ClinGen gnomAD |
|
|
rs1309822042 CA359439170 |
520 | V>A | No |
ClinGen gnomAD |
|
|
CA359439168 rs1309822042 |
520 | V>G | No |
ClinGen gnomAD |
|
|
CA359439175 rs759732572 |
520 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3232993 rs759732572 |
520 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA116959798 rs934824307 |
521 | K>E | No |
ClinGen Ensembl |
|
|
CA116959795 rs867281104 COSM1437197 |
522 | E>A | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1170089841 CA359439148 |
522 | E>K | No |
ClinGen TOPMed |
No associated diseases with Q3SY77
1 regional properties for Q3SY77
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | UDP-glycosyltransferase family, conserved site | 348 - 391 | IPR035595 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.17 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| UDP-N-acetylglucosamine transferase complex | A multienzyme, heterooligomeric complex involved in dolichyl-linked oligosaccharide synthesis. In yeast the complex is composed of Alg7p, which catalyzes the first step (GlcNAc1-PP-Dol from dolichol-phosphate and UDP-GlcNAc), and Alg13p plus Alg14p, the catalytic and anchoring subunits respectively, which together catalyze the second step (GlcNAc2-PP-dolichol from GlcNAc1-PP-Dol and UDP-GlcNAc) of dolichyl-linked oligosaccharide synthesis. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| glucuronosyltransferase activity | Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. |
| UDP-glycosyltransferase activity | Catalysis of the transfer of a glycosyl group from a UDP-sugar to a small hydrophobic molecule. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to genistein | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a genistein stimulus. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1LZI1 | UGT3A1 | UDP-glucuronosyltransferase 3A1 | Bos taurus (Bovine) | PR |
| Q16880 | UGT8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Homo sapiens (Human) | PR |
| P16662 | UGT2B7 | UDP-glucuronosyltransferase 2B7 | Homo sapiens (Human) | PR |
| O75310 | UGT2B11 | UDP-glucuronosyltransferase 2B11 | Homo sapiens (Human) | PR |
| P36537 | UGT2B10 | UDP-glucuronosyltransferase 2B10 | Homo sapiens (Human) | PR |
| Q64676 | Ugt8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Mus musculus (Mouse) | PR |
| Q8JZZ0 | Ugt3a2 | UDP-glucuronosyltransferase 3A2 | Mus musculus (Mouse) | PR |
| Q09426 | Ugt8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Rattus norvegicus (Rat) | PR |
| Q22295 | ugt-50 | Putative UDP-glucuronosyltransferase ugt-50 | Caenorhabditis elegans | PR |
| Q9LSY6 | UGT71B6 | UDP-glycosyltransferase 71B6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22822 | UGT74F2 | UDP-glycosyltransferase 74F2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O23382 | UGT71B5 | UDP-glycosyltransferase 71B5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5XF20 | UGT84A1 | UDP-glycosyltransferase 84A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94AB5 | UGT76E12 | Flavonol 3-O-glucosyltransferase UGT76E12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FE68 | UGT71C5 | UDP-glycosyltransferase 71C5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FN28 | UGT79B9 | UDP-glycosyltransferase 79B9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LME8 | UGT85A7 | UDP-glycosyltransferase 85A7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LMF1 | UGT85A3 | UDP-glycosyltransferase 85A3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LML6 | UGT71C4 | Flavonol 3-O-glucosyltransferase UGT71C4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LML7 | UGT71C3 | UDP-glycosyltransferase 71C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LS16 | UGT76E7 | UDP-glycosyltransferase 76E7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY4 | UGT71B8 | UDP-glycosyltransferase 71B8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY5 | UGT71B7 | UDP-glycosyltransferase 71B7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY9 | UGT71B1 | UDP-glycosyltransferase 71B1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LXV0 | UGT92A1 | UDP-glycosyltransferase 92A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCP5 | UGT73C7 | UDP-glycosyltransferase 73C7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJL0 | UGT86A1 | UDP-glycosyltransferase 86A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ94 | UGT73C5 | UDP-glycosyltransferase 73C5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ95 | UGT73C6 | UDP-glycosyltransferase 73C6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ96 | UGT73C3 | UDP-glycosyltransferase 73C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ97 | UGT73C4 | UDP-glycosyltransferase 73C4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ98 | UGT73C2 | UDP-glycosyltransferase 73C2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LHJ2 | UGT82A1 | UDP-glycosyltransferase 82A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48676 | UGT74B1 | UDP-glycosyltransferase 74B1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQG4 | UGT73B5 | UDP-glycosyltransferase 73B5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZVX4 | UGT90A1 | UDP-glycosyltransferase 90A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGQRVLLLV | GFLLPGVLLS | EAAKILTIST | VGGSHYLLMD | RVSQILQDHG | HNVTMLNHKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GPFMPDFKKE | EKSYQVISWL | APEDHQREFK | KSFDFFLEET | LGGRGKFENL | LNVLEYLALQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CSHFLNRKDI | MDSLKNENFD | MVIVETFDYC | PFLIAEKLGK | PFVAILSTSF | GSLEFGLPIP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSYVPVFRSL | LTDHMDFWGR | VKNFLMFFSF | CRRQQHMQST | FDNTIKEHFT | EGSRPVLSHL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLKAELWFIN | SDFAFDFARP | LLPNTVYVGG | LMEKPIKPVP | QDLENFIAKF | GDSGFVLVTL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSMVNTCQNP | EIFKEMNNAF | AHLPQGVIWK | CQCSHWPKDV | HLAANVKIVD | WLPQSDLLAH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSIRLFVTHG | GQNSIMEAIQ | HGVPMVGIPL | FGDQPENMVR | VEAKKFGVSI | QLKKLKAETL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALKMKQIMED | KRYKSAAVAA | SVILRSHPLS | PTQRLVGWID | HVLQTGGATH | LKPYVFQQPW |
| 490 | 500 | 510 | 520 | ||
| HEQYLLDVFV | FLLGLTLGTL | WLCGKLLGMA | VWWLRGARKV | KET |