P16662
PR
Gene name |
UGT2B7 |
Protein name |
UDP-glucuronosyltransferase 2B7 |
Names |
UDPGT 2B7, UGT2B7, 3,4-catechol estrogen-specific UDPGT, UDP-glucuronosyltransferase 2B9, UDPGT 2B9, UDPGTh-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7364 |
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
2 structures for P16662
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2O6L | X-ray | 180 A | A/B | 285-451 | PDB |
| AF-P16662-F1 | Predicted | AlphaFoldDB |
598 variants for P16662
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1454696412 CA357095033 |
2 | S>P | No |
ClinGen TOPMed |
|
|
rs1404170117 CA357095045 |
4 | K>E | No |
ClinGen TOPMed |
|
|
CA98843015 rs754985186 |
5 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2944504 rs759026515 |
10 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1367730176 CA357095101 |
12 | I>T | No |
ClinGen gnomAD |
|
|
CA357095104 RCV001028165 rs1157290351 |
13 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1160972059 CA357095108 |
13 | Q>L | No |
ClinGen gnomAD |
|
|
rs1412192907 CA357095111 |
14 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV001028163 CA357095119 rs1577920737 |
15 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA357095117 rs1369589412 |
15 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 15 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560508238 CA357095126 |
16 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 16 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577920742 RCV001028162 |
17 | C>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 17 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764911821 CA2944505 |
18 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1403703291 CA357095160 RCV001028161 |
20 | S>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2944507 rs758225308 |
23 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA98843025 rs997215331 |
24 | G>E | No |
ClinGen Ensembl |
|
|
CA2944508 rs777362846 |
25 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA98843040 rs200799009 |
25 | K>R | No |
ClinGen 1000Genomes |
|
|
CA357095199 rs751545826 |
27 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA98843083 rs899572997 |
27 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357095228 rs1228010081 |
31 | A>G | No |
ClinGen gnomAD |
|
|
CA357095242 rs1266379801 |
33 | Y>C | No |
ClinGen gnomAD |
|
|
CA357095252 rs1478370369 |
34 | S>R | No |
ClinGen Ensembl |
|
|
CA2944511 rs202055250 |
36 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357095263 rs1484265227 |
36 | W>R | No |
ClinGen gnomAD |
|
|
RCV001028160 rs1255338508 CA357095278 CA357095276 |
37 | M>I | No |
ClinGen gnomAD ClinVar dbSNP |
|
|
rs1577920799 CA357095292 RCV001028159 |
39 | I>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944512 rs749415280 |
40 | K>E | No |
ClinGen ExAC |
|
| TCGA novel | 40 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs58632287 CA2944513 |
41 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001028158 rs1577920813 CA357095309 |
42 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944514 COSM420538 rs569411321 |
42 | I>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs770659742 CA98843099 |
43 | L>V | No |
ClinGen Ensembl |
|
|
rs1412265400 CA357095322 |
44 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
RCV001028157 CA357095316 rs1577920819 |
44 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944516 rs373225477 |
45 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357095333 rs1156473639 |
46 | L>F | No |
ClinGen gnomAD |
|
|
RCV000891815 RCV001028973 rs61361928 CA2944517 |
46 | L>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs148671766 CA2944518 |
49 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357095352 rs1402048109 |
49 | R>T | No |
ClinGen gnomAD |
|
|
rs1577920855 CA357095359 |
50 | G>C | No |
ClinGen Ensembl |
|
|
CA2944519 rs771477682 |
50 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2944520 rs777092380 |
51 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA2944521 rs759114615 |
51 | H>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001028972 rs777092380 CA357095363 |
51 | H>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA357095370 rs1409497478 |
52 | E>* | No |
ClinGen gnomAD |
|
|
CA2944523 rs752397753 |
53 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM387452 CA2944524 rs376374784 |
54 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201563351 CA357095386 |
55 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2944525 rs201563351 |
55 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2944526 rs142158304 |
56 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944528 rs147538491 |
57 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357095396 rs1207209058 |
57 | A>P | No |
ClinGen gnomAD |
|
|
rs1207209058 CA357095395 |
57 | A>T | No |
ClinGen gnomAD |
|
|
CA357095414 rs1314561243 |
60 | A>S | No |
ClinGen TOPMed |
|
|
rs1436118132 CA357095417 |
60 | A>V | No |
ClinGen TOPMed |
|
|
COSM108400 rs144693330 CA98843160 |
61 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2944530 rs750369010 |
63 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944531 rs750369010 |
63 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2944532 rs778794207 |
63 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357095440 rs1375423566 |
64 | F>L | No |
ClinGen gnomAD |
|
|
rs748435925 CA2944533 |
67 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1171010951 CA357095466 |
68 | N>S | No |
ClinGen gnomAD |
|
|
CA2944534 rs373587868 |
70 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1577920928 RCV001028971 |
71 | A>missing | No |
ClinVar dbSNP |
|
|
CA2944538 rs12233719 |
71 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2944536 rs12233719 RCV001028970 VAR_057327 |
71 | A>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs12233719 CA2944537 |
71 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61154511 CA2944539 |
72 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61154511 CA357095485 |
72 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1182543833 CA357095495 |
73 | K>N | No |
ClinGen TOPMed |
|
|
CA2944541 rs371114623 |
74 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2944540 rs376802547 |
74 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762503294 CA2944542 |
76 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1446281391 CA357095522 |
77 | Y>* | No |
ClinGen TOPMed |
|
|
CA357095520 rs1351159277 |
77 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs763690111 CA2944544 |
78 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs763690111 CA2944543 |
78 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2944546 rs767360244 |
79 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2944548 rs373528265 |
80 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA2944547 rs368905272 |
80 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357095536 rs373528265 |
80 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
| TCGA novel | 82 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357095563 rs1172749838 |
84 | T>I | No |
ClinGen Ensembl |
|
|
rs1488640601 CA357095564 |
85 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs756082617 CA357095570 |
85 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765384197 CA2944551 |
86 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765384197 CA2944552 |
86 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747219760 CA2944555 |
89 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA98843315 CA357095613 rs370956653 |
91 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
RCV001028969 rs1577920993 CA357095631 |
94 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs373751680 CA2944558 |
94 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421204795 CA357095645 |
96 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 100 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357095685 RCV001028968 rs770251825 |
101 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2944560 rs770251825 |
101 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1298255495 CA357095689 |
102 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs367597912 CA2944561 |
103 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1314677669 CA357095704 |
104 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs774157660 CA2944564 |
105 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 105 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357095718 rs761487350 |
106 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761487350 CA2944565 |
106 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944567 rs140153012 |
107 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357095726 rs1453354095 |
107 | L>S | No |
ClinGen gnomAD |
|
|
rs1249198106 CA357095738 |
109 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs922137531 CA98843343 |
110 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs760500705 CA2944568 |
111 | Q>K | No |
ClinGen ExAC |
|
|
RCV001028966 rs373954369 CA98843350 |
112 | V>I | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
rs1416476359 CA357095766 |
113 | Q>P | No |
ClinGen gnomAD |
|
|
CA357095765 rs1416476359 |
113 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357095780 rs1252847580 |
115 | I>T | No |
ClinGen gnomAD |
|
|
RCV001028964 CA98843357 rs772560918 CA357095790 |
116 | M>I | No |
ClinGen TOPMed ClinVar dbSNP |
|
|
rs1453130551 CA357095785 |
116 | M>V | No |
ClinGen gnomAD |
|
|
rs766272023 CA2944570 |
117 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA357095798 rs1345425335 |
118 | I>V | No |
ClinGen TOPMed |
|
|
CA357095815 rs1560508491 |
120 | G>D | No |
ClinGen Ensembl |
|
|
RCV001028963 rs1577921077 CA357095813 |
120 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1387977501 CA357095818 |
121 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA357095830 rs1428608495 |
122 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA357095838 rs1355789428 |
123 | T>N | No |
ClinGen TOPMed |
|
|
RCV001028962 rs1577921091 |
124 | R>missing | No |
ClinVar dbSNP |
|
|
rs28365063 CA2944574 |
124 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757420223 CA357095853 |
126 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757420223 CA2944575 COSM258313 |
126 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1577921116 CA915943093 RCV001028960 |
127 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1178296675 CA357095861 |
127 | C>R | No |
ClinGen TOPMed |
|
|
CA357095865 rs1227481730 |
127 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781369532 CA2944576 |
129 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1479366152 CA357095900 |
132 | S>L | No |
ClinGen TOPMed |
|
|
rs746832798 CA98843385 |
134 | K>N | No |
ClinGen gnomAD |
|
|
rs1228621666 CA357095926 |
136 | F>I | No |
ClinGen gnomAD |
|
|
rs1314594918 CA357095930 |
136 | F>L | No |
ClinGen gnomAD |
|
|
CA357095925 rs1228621666 |
136 | F>L | No |
ClinGen gnomAD |
|
|
CA357095924 rs1228621666 |
136 | F>V | No |
ClinGen gnomAD |
|
|
CA357095927 rs1267005745 |
136 | F>Y | No |
ClinGen gnomAD |
|
|
CA98843395 rs267600220 |
137 | M>I | No |
ClinGen gnomAD |
|
|
CA357095935 rs368476298 |
137 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944577 rs368476298 |
137 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483788471 CA357095940 |
138 | K>E | No |
ClinGen gnomAD |
|
|
CA357095950 rs1255842063 |
139 | K>T | No |
ClinGen gnomAD |
|
|
RCV001028156 rs1577921167 |
140 | V>missing | No |
ClinVar dbSNP |
|
|
CA357095959 rs1407400137 |
140 | V>A | No |
ClinGen gnomAD |
|
|
rs1160150431 CA357095955 |
140 | V>I | No |
ClinGen gnomAD |
|
|
rs545544033 CA2944579 |
141 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA98843454 rs1036727491 |
142 | E>A | No |
ClinGen TOPMed |
|
|
rs780479998 CA357095968 |
142 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780479998 CA2944581 |
142 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944583 rs749742372 |
143 | S>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001028155 CA2944582 rs749742372 |
143 | S>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs778529315 CA2944584 |
144 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2944585 TCGA novel rs747827733 |
145 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA2944587 rs147120761 |
146 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357096002 rs1347945999 |
147 | V>G | No |
ClinGen gnomAD |
|
|
CA2944588 rs760454742 |
147 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776447361 CA2944590 |
148 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs770747052 CA2944589 |
148 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265300416 CA357096021 |
150 | A>V | No |
ClinGen TOPMed |
|
|
rs372412977 CA357096028 |
151 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751686591 CA2944593 |
152 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2944592 rs764179973 |
152 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944594 rs761849480 |
153 | I>L | No |
ClinGen ExAC |
|
|
CA357096038 rs1183201474 |
153 | I>T | No |
ClinGen gnomAD |
|
|
rs761849480 CA357096034 |
153 | I>V | No |
ClinGen ExAC |
|
|
CA357096049 rs1468679250 |
155 | P>T | No |
ClinGen gnomAD |
|
|
CA2944595 rs767794700 |
156 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425958585 CA357096056 |
156 | C>Y | No |
ClinGen gnomAD |
|
|
rs1000033611 CA98843539 |
157 | S>N | No |
ClinGen TOPMed |
|
|
CA357096077 rs1392179428 |
159 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756445459 CA2944597 |
161 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs374755484 CA2944600 |
166 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2944599 rs754330234 |
166 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA357096127 rs1366261224 |
167 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1366261224 CA357096129 |
167 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747704916 RCV001028152 CA2944602 |
167 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA357096125 rs747704916 |
167 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577921303 CA357096131 |
168 | F>L | No |
ClinGen Ensembl |
|
|
CA2944603 rs771708285 |
169 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1405097062 CA357096153 |
171 | S>C | No |
ClinGen TOPMed |
|
|
CA98843603 rs111720546 |
174 | F>L | No |
ClinGen Ensembl |
|
|
rs770638134 CA357096183 |
175 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944606 rs770638134 |
175 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577921336 RCV001028151 |
177 | G>* | No |
ClinVar dbSNP |
|
|
rs776448390 CA2944607 |
178 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs60103519 CA2944608 |
179 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs60103519 CA357096208 |
179 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357096224 rs1577921353 RCV001028150 |
181 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 182 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357096238 rs1224035625 |
183 | H>R | No |
ClinGen gnomAD |
|
|
rs775401992 CA2944610 |
184 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191706390 CA357096248 |
185 | G>R | No |
ClinGen gnomAD |
|
|
rs1391873315 CA357096254 |
186 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761935053 CA2944611 |
187 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2944612 rs529993159 |
188 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529993159 CA2944613 |
188 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2944614 rs760908737 |
190 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs543596320 CA357096303 CA2944616 |
193 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA797836309 rs1218432740 |
193 | Y>* | No |
ClinGen TOPMed |
|
|
CA2944617 rs143338928 |
194 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944618 rs143338928 |
194 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753247198 CA2944619 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA357096309 rs1438019767 |
195 | P>T | No |
ClinGen gnomAD |
|
|
rs757999533 CA2944620 |
196 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1560508691 CA357096320 |
197 | V>F | No |
ClinGen Ensembl |
|
|
rs777273975 CA2944621 |
198 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs746674721 CA2944622 |
199 | S>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001028149 rs1577921432 CA357096341 |
200 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 202 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756981437 CA2944623 |
202 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879036094 CA357096360 |
203 | D>A | No |
ClinGen gnomAD |
|
|
CA98843736 rs879036094 |
203 | D>V | No |
ClinGen gnomAD |
|
|
CA357096399 rs1450038408 |
208 | M>T | No |
ClinGen TOPMed |
|
|
rs1290815458 CA357096412 |
210 | R>W | No |
ClinGen gnomAD |
|
|
rs1369776133 RCV001028148 |
213 | N>missing | No |
ClinVar dbSNP |
|
| rs1369776133 | 213 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 213 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378117072 CA357096438 |
213 | N>S | No |
ClinGen TOPMed |
|
|
rs142000539 CA2944625 |
215 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2944627 rs769560693 |
217 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769560693 CA2944626 RCV001028147 |
217 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA357096479 rs1465332555 |
219 | Y>F | No |
ClinGen gnomAD |
|
|
RCV001028145 rs1577921483 CA357096495 |
221 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944628 rs749156574 |
221 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA797836487 rs1157980549 |
223 | W>* | No |
ClinGen TOPMed |
|
|
CA357096512 rs1577921489 |
223 | W>* | No |
ClinGen Ensembl |
|
|
rs772168662 CA357096508 |
223 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2944629 rs772168662 |
223 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs772168662 CA357096509 |
223 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA357096519 rs560135869 |
224 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146308452 CA357096521 |
225 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944631 COSM137404 rs146308452 |
225 | E>K | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2944632 rs146308452 |
225 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1577921523 CA357096542 |
228 | D>N | No |
ClinGen Ensembl |
|
|
rs1560508731 CA357096546 |
228 | D>V | No |
ClinGen Ensembl |
|
|
rs1322052958 CA357096555 |
229 | M>I | No |
ClinGen gnomAD |
|
|
rs376632240 CA98843772 |
229 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA357096551 rs1459418485 |
229 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA357096577 rs1467098760 |
232 | W>* | No |
ClinGen gnomAD |
|
|
CA2944634 rs760035590 |
232 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA357096583 rs765643535 |
233 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs532339619 CA98843791 |
233 | D>V | No |
ClinGen Ensembl |
|
|
CA2944635 rs765643535 |
233 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368996841 CA98843796 |
234 | Q>R | No |
ClinGen Ensembl |
|
|
CA357096603 rs1325084870 |
235 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 237 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2944639 rs532056621 |
239 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1285004053 CA357096629 |
239 | V>I | No |
ClinGen gnomAD |
|
|
CA2944640 rs763537651 |
240 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs754726573 CA2944677 |
241 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372168240 CA2944642 |
241 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1560509184 CA357096660 |
243 | P>A | No |
ClinGen Ensembl |
|
|
rs778968369 CA2944678 |
244 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs139488772 CA98844769 |
245 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2944679 rs747978707 |
245 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs781384898 CA2944681 |
246 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2944683 rs770193334 |
248 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944685 rs763465410 |
251 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs775847511 CA2944684 |
251 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2944686 rs189169793 |
253 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs553102091 CA2944687 |
254 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM481443 CA2944689 rs182011163 |
255 | V>I | kidney oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA357096745 rs1194824336 |
256 | W>C | No |
ClinGen gnomAD |
|
|
CA357096758 rs1452967787 |
258 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA357096757 rs1394944777 |
258 | I>T | No |
ClinGen gnomAD |
|
|
rs749983289 CA2944691 |
259 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944690 rs749983289 |
259 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2944692 rs766088990 |
260 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1312451626 CA357096781 |
262 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV001028137 rs778509979 CA357096805 |
265 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2944694 rs754815584 |
265 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2944697 rs758222821 |
267 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944696 rs752714865 |
267 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA98844870 rs386675647 |
268 | Y>H | No |
ClinGen Ensembl |
|
|
rs7439366 VAR_012342 RCV001028136 CA2944699 |
268 | Y>H | allele UGT2B7*1 [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1230499542 CA357096828 |
269 | P>S | No |
ClinGen gnomAD |
|
|
rs575456073 CA2944700 |
270 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357096845 TCGA novel rs544218603 |
272 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA 1000Genomes ExAC gnomAD |
|
RCV001028135 CA357096847 rs749400319 |
272 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs749400319 CA2944702 |
272 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs544218603 CA2944701 |
272 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 273 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577922360 CA357096860 |
274 | V>A | No |
ClinGen Ensembl |
|
|
rs1299487099 CA357096856 |
274 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA98844889 rs112352348 |
275 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2944703 rs769096340 |
277 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA98844895 rs975939370 |
277 | V>I | No |
ClinGen TOPMed |
|
|
CA2944704 rs373638964 |
278 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944705 rs373638964 |
278 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357096881 rs1212450363 |
278 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1467570394 CA357096888 |
279 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773706288 CA2944707 |
280 | L>F | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 281 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2944708 rs760238513 |
283 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1436874254 CA357096916 |
283 | K>R | No |
ClinGen Ensembl |
|
|
rs1462039783 CA357096921 |
284 | P>S | No |
ClinGen gnomAD |
|
|
rs776270088 CA2944710 |
287 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2944711 rs759074876 |
290 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357088641 rs1168994186 |
291 | E>A | No |
ClinGen TOPMed |
|
|
CA2944729 CA2944730 rs775959265 |
292 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540988840 CA98817685 |
294 | D>E | No |
ClinGen 1000Genomes |
|
|
rs764841244 CA357088665 |
294 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764841244 CA2944731 |
294 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944733 rs775191749 |
295 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1187524449 CA357088694 |
298 | S>G | No |
ClinGen gnomAD |
|
|
rs34620993 CA98817691 |
299 | S>F | No |
ClinGen Ensembl |
|
|
rs762667452 CA357088717 |
300 | G>* | No |
ClinGen ExAC gnomAD |
|
|
COSM381536 CA2944734 rs762667452 |
300 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA357088734 rs1577924384 |
301 | E>D | No |
ClinGen Ensembl |
|
|
rs970471600 CA98817698 |
301 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1248580566 CA357088736 |
302 | N>H | No |
ClinGen TOPMed |
|
|
rs763910814 CA2944735 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA357088738 rs1248580566 |
302 | N>Y | No |
ClinGen TOPMed |
|
|
CA357088747 rs1407331667 |
303 | G>S | No |
ClinGen gnomAD |
|
|
rs1219632767 CA357088761 |
304 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2944737 rs751575601 |
306 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA357088791 rs1375871711 |
307 | F>L | No |
ClinGen gnomAD |
|
|
rs1433816833 CA357088825 |
310 | G>R | No |
ClinGen gnomAD |
|
|
CA2944739 rs767539882 |
312 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944740 rs753902054 |
313 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944741 rs755080081 |
315 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1222590427 CA357088896 |
316 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1222590427 CA357088895 |
316 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2944743 rs752908839 |
317 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357088913 rs1220358871 |
317 | T>R | No |
ClinGen TOPMed |
|
|
rs1367675699 CA357088920 |
318 | E>G | No |
ClinGen TOPMed |
|
|
COSM176340 CA357088918 rs1210526766 |
318 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1577924467 CA357088939 |
320 | R>K | No |
ClinGen Ensembl |
|
|
rs778072240 CA2944745 |
321 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1276174786 CA357088954 |
322 | N>D | No |
ClinGen TOPMed |
|
|
rs747540766 CA2944746 |
322 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934802698 CA98817780 |
322 | N>S | No |
ClinGen TOPMed |
|
|
rs1577924503 CA357088966 |
323 | V>A | No |
ClinGen Ensembl |
|
|
rs781704140 CA2944748 |
323 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745439209 CA2944749 |
324 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001028129 CA357088983 rs1479676448 |
325 | A>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA98817794 rs375769374 |
325 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA357088997 rs1380627479 |
326 | S>* | No |
ClinGen gnomAD |
|
|
rs1380627479 CA357088994 |
326 | S>L | No |
ClinGen gnomAD |
|
|
rs1352588552 CA357088990 |
326 | S>P | No |
ClinGen TOPMed |
|
|
rs1372365173 CA357089002 |
327 | A>D | No |
ClinGen gnomAD |
|
|
rs1306216941 CA357088999 |
327 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
RCV001028127 CA357089017 rs1577924539 |
329 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775008011 CA2944751 |
329 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA98817812 rs564691451 |
330 | Q>H | No |
ClinGen Ensembl |
|
|
rs1421378713 CA357089022 |
330 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197373389 CA357089052 |
331 | I>N | No |
ClinGen TOPMed |
|
|
rs1197373389 CA357089050 |
331 | I>T | No |
ClinGen TOPMed |
|
|
rs1327715763 RCV001028126 CA357089094 |
334 | K>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1327715763 CA357089095 |
334 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 335 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748784655 CA2944772 |
335 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1328591733 CA357089787 |
336 | L>M | No |
ClinGen gnomAD |
|
|
rs1431847400 CA357089799 |
337 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs768462467 CA2944773 |
338 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2944774 rs774139685 |
338 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA2944775 rs569519019 |
340 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771844413 CA2944776 |
344 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147582860 CA2944778 |
345 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211778228 CA357089881 |
345 | D>N | No |
ClinGen gnomAD |
|
|
CA2944779 rs765256561 |
346 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752827623 CA2944780 |
346 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752827623 CA357089896 |
346 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2944781 rs762994000 |
347 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA357089906 rs1476007148 |
348 | G>S | No |
ClinGen gnomAD |
|
|
rs764370050 CA2944782 |
348 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1231699 rs751770492 CA2944783 |
351 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA357089937 rs1280923116 |
351 | T>I | No |
ClinGen TOPMed |
|
|
rs750912051 CA2944786 |
352 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757620685 CA2944785 |
352 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944787 rs756690694 |
353 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs4348159 CA2944790 |
354 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357089963 rs1338855475 |
354 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2944791 rs778723463 |
355 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2944792 rs571765031 |
355 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371615313 CA2944796 COSM318258 |
356 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
| TCGA novel | 356 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534247356 CA2944794 |
356 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534247356 CA2944795 |
356 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357089997 rs1351398469 |
357 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2944797 rs776548224 |
358 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1577927077 CA357090001 |
358 | P>T | No |
ClinGen Ensembl |
|
|
CA357090012 rs1281947891 |
359 | Q>* | No |
ClinGen gnomAD |
|
|
CA2944798 rs763081808 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1577927085 CA357090013 |
359 | Q>P | No |
ClinGen Ensembl |
|
|
rs1363470182 CA357090023 |
360 | N>S | No |
ClinGen gnomAD |
|
|
CA357090043 rs1451636751 |
362 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA357090120 rs1373766460 |
364 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 364 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757844749 CA2944830 |
365 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA98820528 rs1004652217 |
366 | P>A | No |
ClinGen TOPMed |
|
|
rs1577927645 CA357090145 RCV001028117 COSM3714939 |
366 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1234923133 CA357090153 |
367 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs151128457 CA2944831 |
368 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944832 rs751118884 |
370 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944833 rs757071222 |
372 | I>T | No |
ClinGen ExAC |
|
|
rs1251464572 CA357090194 |
372 | I>V | No |
ClinGen gnomAD |
|
|
CA98820561 rs993097202 |
374 | H>R | No |
ClinGen TOPMed |
|
|
CA357090215 rs1486360128 |
374 | H>Y | No |
ClinGen TOPMed |
|
|
rs769760607 CA2944836 |
376 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769760607 CA357090256 |
376 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35590824 CA98820568 |
378 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_057328 rs35590824 CA98820572 |
378 | N>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs35590824 CA2944837 |
378 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771987274 CA2944839 |
379 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2944838 rs748315310 |
379 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771987274 CA357090290 |
379 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760768829 CA357090325 |
381 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357090335 rs1396745839 |
382 | E>G | No |
ClinGen gnomAD |
|
|
COSM378777 CA357090327 rs1168700695 |
382 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2944843 rs771444554 |
383 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944842 rs771444554 |
383 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944845 rs765914901 |
385 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357090378 rs1365261950 |
385 | Y>H | No |
ClinGen gnomAD |
|
|
CA357090392 rs1296016481 |
386 | H>R | No |
ClinGen gnomAD |
|
|
rs753133394 CA2944846 |
387 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762542364 CA2944847 |
388 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA357090437 rs1334870315 CA357090445 |
390 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1474536029 CA357090428 |
390 | M>V | No |
ClinGen TOPMed |
|
|
rs763449768 CA357090458 |
391 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944848 rs763449768 |
391 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214897013 CA357090451 |
391 | V>L | No |
ClinGen gnomAD |
|
|
CA2944849 rs751243157 |
392 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780789575 CA2944851 |
394 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs150248109 CA2944854 |
395 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357090498 RCV001028115 rs750282415 |
395 | L>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2944857 rs563256432 |
397 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2944856 rs543169852 |
397 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001028114 CA2944858 rs563256432 |
397 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA357090554 rs1289275249 |
398 | D>A | No |
ClinGen gnomAD |
|
|
rs776991562 RCV001028112 CA2944860 |
398 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001028111 CA357090572 rs1577927789 |
399 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1577927792 RCV001028110 CA357090579 |
399 | Q>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944862 COSM1486056 rs138302870 |
401 | D>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA98820642 rs142806461 |
401 | D>V | No |
ClinGen ESP TOPMed |
|
|
CA357090619 rs1294702632 |
402 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2944863 rs201964275 |
404 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763316866 CA2944864 CA357090692 |
406 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200539544 CA2944865 |
406 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1320509334 CA357090728 |
408 | A>D | No |
ClinGen gnomAD |
|
|
rs34308305 CA2944867 |
409 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34308305 CA2944866 |
409 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767214326 CA2944868 |
410 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA357090759 rs1259787528 |
411 | A>G | No |
ClinGen gnomAD |
|
|
rs755908336 CA2944870 |
412 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357090777 rs1186242339 |
413 | V>A | No |
ClinGen TOPMed |
|
|
CA2944871 rs766047432 |
414 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs144232904 CA2944874 |
415 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754920475 CA2944873 CA357090785 |
415 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs754920475 CA357090784 |
415 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs960076700 CA98820698 RCV001028926 |
416 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA2944875 rs747153786 |
418 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs547979452 CA2944876 |
419 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375741445 CA357090821 |
420 | M>I | No |
ClinGen gnomAD |
|
|
CA2944877 rs148274136 |
420 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2944878 rs746024489 |
421 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2944879 rs746024489 |
421 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749629452 CA2944881 |
422 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs769107320 CA2944882 |
422 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769107320 CA357090830 |
422 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774905521 CA2944883 |
423 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2944884 rs761324309 |
423 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1577927873 RCV001028925 CA357090840 |
424 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA357090842 rs1353438145 |
424 | D>V | No |
ClinGen gnomAD |
|
|
CA357090846 rs1238352365 |
425 | L>M | No |
ClinGen gnomAD |
|
|
rs141309270 CA2944885 |
425 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486146090 CA357090864 |
427 | N>K | No |
ClinGen gnomAD |
|
|
CA357090865 rs1482179157 |
428 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2944886 rs34851008 |
430 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357090881 rs1235829887 |
430 | K>R | No |
ClinGen gnomAD |
|
|
CA2944887 rs760271390 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA357090900 rs1258520160 |
433 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001028924 rs1577927899 CA357090925 |
436 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944889 rs139693571 |
437 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379549268 CA357090943 |
437 | S>P | No |
ClinGen gnomAD |
|
|
CA357090942 rs1379549268 |
437 | S>T | No |
ClinGen gnomAD |
|
|
CA2944913 rs764088628 |
438 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762938457 CA2944912 |
438 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs145217059 CA2944917 |
440 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944916 rs750593732 |
440 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs750593732 CA98822989 |
440 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
CA357091939 rs766105768 |
441 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA552612680 rs1560513752 |
441 | N>I | No |
ClinGen Ensembl |
|
|
CA2944918 rs766105768 |
441 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 442 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138450721 CA2944919 |
442 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357091956 rs1349725760 |
443 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357091955 rs1349725760 |
443 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1577930035 CA357091952 |
443 | M>V | No |
ClinGen Ensembl |
|
|
CA357091961 rs1215350782 |
444 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 444 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357091962 rs1215350782 |
444 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1316090045 CA357091968 |
445 | L>I | No |
ClinGen gnomAD |
|
|
CA2944920 rs371793369 |
446 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466161223 CA357091984 |
447 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748489436 CA2944922 |
450 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1378984000 CA357092004 |
450 | H>Y | No |
ClinGen TOPMed |
|
|
CA357092018 rs772607168 |
452 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772607168 CA2944923 |
452 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778250028 CA2944924 |
452 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA98823040 rs776418214 |
456 | P>S | No |
ClinGen Ensembl |
|
|
rs1380612215 CA357092056 |
458 | D>A | No |
ClinGen TOPMed |
|
|
COSM1056925 rs770419807 CA2944926 |
459 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2944928 rs371597113 |
459 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2944927 rs371597113 |
459 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167755678 CA357092068 |
460 | A>V | No |
ClinGen gnomAD |
|
|
CA357092070 rs1392157589 |
461 | V>L | No |
ClinGen gnomAD |
|
|
CA357092082 rs1322031126 |
462 | F>L | No |
ClinGen gnomAD |
|
|
rs762834462 CA2944931 |
463 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762834462 CA357092091 |
463 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347295850 CA357092085 |
463 | W>R | No |
ClinGen gnomAD |
|
|
CA2944932 rs535790565 |
464 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357092102 rs1577930106 |
465 | E>G | No |
ClinGen Ensembl |
|
|
CA357092111 rs1254356009 |
466 | F>C | No |
ClinGen TOPMed |
|
|
rs1355634168 CA357092124 |
468 | M>I | No |
ClinGen gnomAD |
|
|
rs760673582 CA2944934 |
468 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2944933 rs202211253 |
468 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2944935 rs201354412 |
469 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201354412 CA98823081 |
469 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA98823088 rs1000966644 |
469 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201354412 CA2944936 |
469 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447327682 CA357092131 |
470 | H>Y | No |
ClinGen gnomAD |
|
|
rs1260517594 CA357092141 |
471 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 471 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316397583 CA357092150 |
472 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 474 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2944938 rs779075942 |
475 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM230550 CA357092174 rs1367345982 |
476 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs569354249 CA2944940 |
477 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs569354249 CA2944939 |
477 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1410659965 CA357092183 |
478 | V>F | No |
ClinGen gnomAD |
|
|
rs1577930172 RCV001028921 CA357092187 |
479 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944942 rs147176472 |
479 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1577930188 RCV001028920 CA357092195 |
480 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2944944 rs780707514 |
480 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357092197 rs1416848369 |
481 | H>N | No |
ClinGen gnomAD |
|
|
CA357092203 rs764824818 CA357092204 |
481 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357092212 rs1339899746 CA357092211 |
482 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM1056927 CA357092207 rs1379588626 |
482 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA357092206 rs1379588626 |
482 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1577930208 CA357092231 RCV001028919 |
485 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 486 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769633349 CA2944946 |
487 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA357092244 rs1254089448 |
487 | Q>P | No |
ClinGen TOPMed |
|
|
rs140395996 CA2944948 |
489 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357092281 rs1374460754 |
492 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1374460754 CA357092282 |
492 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2944949 rs768496863 |
494 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA357092297 rs1283618140 |
494 | I>T | No |
ClinGen gnomAD |
|
|
rs552807703 CA98823136 |
496 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs912849295 CA98823145 |
499 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 499 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779889693 CA98823150 |
501 | V>L | No |
ClinGen TOPMed |
|
|
rs964197344 CA98823153 |
502 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs920106674 CA98823158 |
504 | V>A | No |
ClinGen TOPMed |
|
|
rs1340714572 CA357092350 |
504 | V>L | No |
ClinGen TOPMed |
|
|
CA2944953 rs112292219 |
508 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357092385 rs1359615066 |
509 | T>K | No |
ClinGen TOPMed |
|
|
rs1436844953 CA357092401 |
511 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1436844953 RCV001028916 CA357092399 |
511 | C>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1366701902 CA357092426 |
515 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 515 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357092432 rs149223174 |
515 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357092428 rs1347384823 |
515 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752860546 CA2944957 |
517 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765502022 CA2944956 |
517 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA2944958 rs758769228 |
518 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA357092466 rs1445916382 |
520 | A>D | No |
ClinGen gnomAD |
|
|
CA357092465 rs1377645447 |
520 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1349721571 CA357092487 |
523 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1349721571 COSM3409427 CA357092488 |
523 | A>G | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 523 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357092486 rs1306868807 |
523 | A>T | No |
ClinGen gnomAD |
|
|
rs764405050 CA2944959 |
524 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA357092500 rs1197092441 |
525 | K>T | No |
ClinGen gnomAD |
|
|
rs1178517882 CA357092508 |
526 | G>E | No |
ClinGen gnomAD |
|
|
rs1458635038 CA357092505 |
526 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1455809019 CA357092526 |
528 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1236768980 CA357092523 |
528 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1199871510 CA357092529 |
529 | D>Y | No |
ClinGen gnomAD |
|
|
CA357092540 rs1377343250 |
530 | D>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357092542 rs1464729167 |
530 | D>Y | No |
ClinGen gnomAD |
No associated diseases with P16662
1 regional properties for P16662
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | UDP-glycosyltransferase family, conserved site | 362 - 405 | 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 | |
3 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| glucuronosyltransferase activity | Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| androgen metabolic process | The chemical reactions and pathways involving androgens, C19 steroid hormones that can stimulate the development of male sexual characteristics. |
| cellular glucuronidation | The modification of an organic chemical by the conjugation of glucuronic acid. The substances resulting from glucuronidation are known as glucuronosides (or glucuronides) and are often much more water-soluble than the non-glucuronic acid-containing precursor. |
| estrogen metabolic process | The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants. |
| 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. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1LZI1 | UGT3A1 | UDP-glucuronosyltransferase 3A1 | Bos taurus (Bovine) | PR |
| O75310 | UGT2B11 | UDP-glucuronosyltransferase 2B11 | Homo sapiens (Human) | PR |
| Q16880 | UGT8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Homo sapiens (Human) | PR |
| Q3SY77 | UGT3A2 | UDP-glucuronosyltransferase 3A2 | 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 |
| Q9LHJ2 | UGT82A1 | UDP-glycosyltransferase 82A1 | 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 |
| 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 |
| MSVKWTSVIL | LIQLSFCFSS | GNCGKVLVWA | AEYSHWMNIK | TILDELIQRG | HEVTVLASSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SILFDPNNSS | ALKIEIYPTS | LTKTELENFI | MQQIKRWSDL | PKDTFWLYFS | QVQEIMSIFG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DITRKFCKDV | VSNKKFMKKV | QESRFDVIFA | DAIFPCSELL | AELFNIPFVY | SLSFSPGYTF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKHSGGFIFP | PSYVPVVMSE | LTDQMTFMER | VKNMIYVLYF | DFWFEIFDMK | KWDQFYSEVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRPTTLSETM | GKADVWLIRN | SWNFQFPYPL | LPNVDFVGGL | HCKPAKPLPK | EMEDFVQSSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ENGVVVFSLG | SMVSNMTEER | ANVIASALAQ | IPQKVLWRFD | GNKPDTLGLN | TRLYKWIPQN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DLLGHPKTRA | FITHGGANGI | YEAIYHGIPM | VGIPLFADQP | DNIAHMKARG | AAVRVDFNTM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSTDLLNALK | RVINDPSYKE | NVMKLSRIQH | DQPVKPLDRA | VFWIEFVMRH | KGAKHLRVAA |
| 490 | 500 | 510 | 520 | ||
| HDLTWFQYHS | LDVIGFLLVC | VATVIFIVTK | CCLFCFWKFA | RKAKKGKND |