P26572
PR
Gene name |
MGAT1 (GGNT1, GLCT1, GLYT1, MGAT) |
Protein name |
Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
Names |
N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I, GNT-I, GlcNAc-T I |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4245 |
EC number |
2.4.1.101: 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 P26572
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P26572-F1 | Predicted | AlphaFoldDB |
400 variants for P26572
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1423501598 CA362532249 |
4 | K>Q | No |
ClinGen gnomAD |
|
|
CA3607774 rs750356145 |
5 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA362532213 rs1392128993 |
5 | Q>R | No |
ClinGen gnomAD |
|
|
CA362532185 rs1448910726 |
7 | A>S | No |
ClinGen gnomAD |
|
|
rs1238035451 CA362532177 |
7 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408582914 CA362532169 |
8 | G>V | No |
ClinGen gnomAD |
|
|
CA362532139 rs1212140917 |
9 | L>R | No |
ClinGen gnomAD |
|
|
rs1440485592 CA362532132 |
10 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs761577610 CA3607772 |
12 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA362532073 rs1294907192 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs146019221 CA133264698 |
15 | I>S | No |
ClinGen ESP |
|
|
rs1452335527 CA362532066 |
15 | I>V | No |
ClinGen TOPMed |
|
|
rs1227094423 CA362532044 |
16 | L>F | No |
ClinGen gnomAD |
|
|
CA362532033 rs1172989038 |
17 | F>L | No |
ClinGen TOPMed |
|
|
rs944353716 CA133264681 |
18 | V>M | No |
ClinGen TOPMed |
|
|
CA362531996 rs1581807431 |
19 | A>G | No |
ClinGen Ensembl |
|
|
CA3607768 rs775578616 |
22 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1430685030 CA362531923 |
25 | L>F | No |
ClinGen gnomAD |
|
|
CA362531895 rs1322136835 |
27 | F>C | No |
ClinGen TOPMed |
|
|
rs1429261703 CA362531903 |
27 | F>L | No |
ClinGen gnomAD |
|
|
rs771614172 CA3607764 |
28 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414538960 CA362531885 |
28 | F>L | No |
ClinGen gnomAD |
|
|
rs898022374 CA133264583 |
30 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA133264589 rs994998138 |
30 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3607761 rs778312623 |
31 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA362531830 rs1272111008 |
31 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1272111008 CA362531826 |
31 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1272111008 CA362531828 |
31 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362531811 rs751178115 |
32 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607759 rs751178115 |
32 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757834418 CA3607758 |
33 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA362531807 rs1291332496 |
33 | A>T | No |
ClinGen gnomAD |
|
|
rs757834418 CA3607757 |
33 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362531768 rs1410884962 |
36 | R>K | No |
ClinGen gnomAD |
|
|
CA3607755 rs765131745 |
37 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA362531746 rs1429282130 |
38 | P>S | No |
ClinGen gnomAD |
|
|
CA3607753 rs753583224 |
39 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3607754 rs757222204 |
39 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413043587 CA362531697 |
41 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3607750 rs767833331 |
42 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607749 rs767833331 |
42 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199590721 CA3607748 |
43 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362531653 rs1488576783 |
44 | D>G | No |
ClinGen gnomAD |
|
|
rs34344788 CA3607746 RCV000973379 |
44 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34344788 CA3607747 |
44 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61743256 CA3607745 |
45 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3607742 rs748605521 |
46 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA362531622 rs556651842 |
46 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573360169 CA362531631 |
46 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3607743 rs573360169 |
46 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758113077 CA3607740 |
47 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs757132216 CA3607737 |
48 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778419570 CA3607738 COSM1436719 |
48 | A>T | Variant assessed as Somatic; 6.403e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201892739 CA3607736 |
49 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362531600 rs1349366286 |
49 | S>I | No |
ClinGen gnomAD |
|
|
CA3607735 rs201892739 |
49 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362531601 rs1349366286 |
49 | S>T | No |
ClinGen gnomAD |
|
|
CA3607733 rs752582148 |
51 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3607734 rs752582148 |
51 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA133264406 rs867087689 |
52 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs767602379 CA3607732 |
53 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA362531563 rs1433528074 |
55 | I>F | No |
ClinGen gnomAD |
|
|
CA3607731 rs759867973 |
55 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1189091600 CA362531555 |
56 | R>C | No |
ClinGen gnomAD |
|
|
CA362531556 rs1189091600 |
56 | R>G | No |
ClinGen gnomAD |
|
|
rs774522120 CA3607730 |
56 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457196944 CA362531549 |
57 | L>V | No |
ClinGen gnomAD |
|
|
CA362531513 rs1248039498 |
60 | D>N | No |
ClinGen gnomAD |
|
|
CA362531500 rs985736712 |
61 | A>S | No |
ClinGen gnomAD |
|
|
CA133264375 rs985736712 |
61 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA133264372 rs1027456660 |
62 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1581804919 CA362531472 |
63 | V>A | No |
ClinGen Ensembl |
|
|
rs1313134801 CA362531455 |
65 | L>V | No |
ClinGen gnomAD |
|
|
rs995535667 CA133264364 |
67 | R>Q | No |
ClinGen gnomAD |
|
|
CA362531433 rs1303763037 |
67 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868110020 CA133264360 |
69 | R>L | No |
ClinGen Ensembl |
|
|
rs34749710 CA3607728 |
70 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767629007 CA3607727 |
71 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607725 rs748430766 |
76 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466414078 CA362531055 |
77 | D>E | No |
ClinGen gnomAD |
|
|
CA3607724 rs777088200 |
78 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1432185073 CA362531027 |
79 | L>Q | No |
ClinGen gnomAD |
|
|
rs1173530328 CA362531029 |
79 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs900272538 CA133264320 |
80 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs900272538 CA362531010 |
80 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1164997366 CA362530999 |
81 | S>N | No |
ClinGen Ensembl |
|
|
CA362530980 rs1164203058 |
82 | Q>R | No |
ClinGen TOPMed |
|
|
CA133264287 rs777271015 |
83 | R>W | No |
ClinGen TOPMed |
|
|
CA362530967 rs1581804155 |
84 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 85 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362530959 rs1246786806 |
86 | V>M | No |
ClinGen gnomAD |
|
|
CA362530948 rs1424827632 |
87 | P>L | No |
ClinGen Ensembl |
|
|
CA362530951 rs1205055709 |
87 | P>S | No |
ClinGen gnomAD |
|
|
CA362530942 rs1483786477 |
88 | T>I | No |
ClinGen gnomAD |
|
|
CA133264275 rs372191868 |
89 | A>T | No |
ClinGen gnomAD |
|
|
rs1347379244 CA362530937 |
89 | A>V | No |
ClinGen gnomAD |
|
|
rs111257256 CA3607721 |
91 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs111257256 CA133264268 |
91 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1230770357 CA362530924 |
92 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA133264257 rs201350610 |
93 | A>P | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs201350610 CA133264259 |
93 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
|
rs1381096949 CA362530905 |
95 | P>L | No |
ClinGen gnomAD |
|
|
rs1396472142 CA362530906 |
95 | P>S | No |
ClinGen gnomAD |
|
|
rs1433830901 CA362530899 |
96 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362530897 rs1433830901 |
96 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1245891552 CA362530881 |
99 | V>A | No |
ClinGen TOPMed |
|
|
rs756113870 CA3607717 |
99 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752393530 CA3607716 |
100 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752393530 CA362530875 |
100 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133264244 rs1052733464 |
101 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362530872 rs1424856188 |
101 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 101 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3607713 rs751835174 |
102 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133264206 rs935579588 |
103 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1481147897 CA362530864 |
103 | P>T | No |
ClinGen gnomAD |
|
|
rs750558283 CA3607710 |
104 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750558283 CA362530859 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340150135 CA362530855 |
104 | A>V | No |
ClinGen gnomAD |
|
|
CA362530852 rs1561822571 |
105 | V>L | No |
ClinGen Ensembl |
|
|
rs1245466318 CA362530848 |
106 | I>L | No |
ClinGen gnomAD |
|
|
CA3607707 rs776808227 |
107 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133264181 rs867849208 |
110 | V>A | No |
ClinGen Ensembl |
|
|
rs773975918 CA3607704 |
111 | I>V | No |
ClinGen ExAC |
|
|
rs1350878791 CA362530788 |
115 | R>H | No |
ClinGen gnomAD |
|
|
CA362530783 rs1167654213 |
116 | S>C | No |
ClinGen TOPMed |
|
|
rs1167654213 CA362530785 |
116 | S>R | No |
ClinGen TOPMed |
|
|
rs1407552173 CA362530778 |
116 | S>R | No |
ClinGen gnomAD |
|
|
rs748712809 CA3607702 |
117 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA362530765 rs1458968331 |
119 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA133264133 rs758094382 |
123 | D>N | No |
ClinGen TOPMed |
|
|
rs758094382 CA133264131 |
123 | D>Y | No |
ClinGen TOPMed |
|
|
CA362530700 COSM1066856 rs1475126056 |
129 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs137855157 CA133264128 |
130 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs944562498 CA133264129 |
130 | P>S | No |
ClinGen TOPMed |
|
|
rs985871684 CA133264117 |
137 | I>V | No |
ClinGen Ensembl |
|
|
CA3607699 rs748129277 |
139 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362530630 rs1210559184 COSM3429352 |
140 | S>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3607698 rs780782615 |
141 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA362530613 rs567736457 |
142 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329619334 CA362530620 |
142 | D>N | No |
ClinGen gnomAD |
|
|
rs1226224662 CA362530595 |
144 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780393812 CA3607695 |
146 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA133264079 rs939411102 |
146 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1388071547 CA362530556 |
146 | E>V | No |
ClinGen gnomAD |
|
|
rs765702663 CA133264037 |
153 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA133264027 rs1027509237 |
154 | S>A | No |
ClinGen TOPMed |
|
|
rs775870224 CA3607687 |
154 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1027509237 CA362530370 |
154 | S>P | No |
ClinGen TOPMed |
|
|
COSM1311060 CA133264023 rs973289735 |
155 | Y>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs760062114 CA3607685 |
156 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760062114 CA3607684 |
156 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362530330 rs1265342740 |
156 | G>S | No |
ClinGen gnomAD |
|
|
CA362530292 rs769351710 |
157 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs747678751 COSM370179 CA3607682 |
158 | A>T | lung Variant assessed as Somatic; 4.65e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1206612538 CA362530272 |
158 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362530257 rs1365731863 |
159 | V>A | No |
ClinGen TOPMed |
|
|
CA3607680 rs768754137 |
160 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3607679 rs373732320 |
160 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435144994 CA362530221 |
161 | H>R | No |
ClinGen gnomAD |
|
|
CA362530225 rs1302028661 |
161 | H>Y | No |
ClinGen gnomAD |
|
|
CA362530201 rs1322228562 |
163 | R>L | No |
ClinGen gnomAD |
|
|
CA3607677 rs369554611 |
163 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3607675 rs746111411 |
166 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA362530160 rs746111411 |
166 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA133263943 rs1017393785 |
168 | S>G | No |
ClinGen TOPMed |
|
|
CA3607673 rs757343836 |
169 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA362530090 rs199977607 |
169 | S>R | No |
ClinGen gnomAD |
|
|
CA3607672 rs753910039 |
170 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3607671 rs764551957 |
170 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362530051 rs147082463 |
171 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3607670 rs147082463 |
171 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1279046928 CA362530048 |
172 | V>M | No |
ClinGen gnomAD |
|
|
rs1484605908 CA362530006 |
173 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772912178 CA3607666 |
173 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs141716191 CA3607664 |
174 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3607665 rs141716191 |
174 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362530003 rs1279107486 |
174 | P>T | No |
ClinGen gnomAD |
|
|
CA362529937 rs1300533992 |
177 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1326260639 CA362529859 |
180 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362529755 rs1416480456 |
185 | I>F | No |
ClinGen gnomAD |
|
|
rs746959409 CA3607661 |
186 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1173185580 CA362529733 |
186 | A>S | No |
ClinGen gnomAD |
|
|
CA362529706 rs1184766082 COSM75410 |
187 | R>C | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3607660 rs775360849 |
187 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1237949544 CA362529662 |
188 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1237949544 CA362529661 |
188 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3607659 rs375119923 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1256377837 CA362529594 |
191 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1066854 CA362529572 rs1205425651 |
192 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1339341215 CA362529525 |
195 | Q>H | No |
ClinGen gnomAD |
|
|
CA3607655 rs749324267 |
196 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607656 rs201632096 |
196 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362529488 rs777850285 |
198 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362529476 rs999546948 |
198 | R>L | No |
ClinGen gnomAD |
|
|
rs999546948 CA133263797 |
198 | R>Q | No |
ClinGen gnomAD |
|
|
CA3607654 rs777850285 |
198 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133263785 rs903077173 |
199 | Q>H | No |
ClinGen gnomAD |
|
|
rs756554434 CA362529415 |
201 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756554434 CA3607653 |
201 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607652 rs753205690 |
201 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581798931 CA362529348 |
203 | P>L | No |
ClinGen Ensembl |
|
|
CA362529319 rs751910889 |
204 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs751910889 CA3607649 |
204 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs944529983 CA133263750 |
205 | A>T | No |
ClinGen gnomAD |
|
|
rs1230776940 CA362529295 |
205 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3607648 rs761396677 |
206 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607647 rs761396677 |
206 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581798657 CA362529261 |
207 | V>L | No |
ClinGen Ensembl |
|
|
CA362529191 rs1212220238 |
210 | D>G | No |
ClinGen TOPMed |
|
|
CA362529100 rs1581798440 |
214 | V>G | No |
ClinGen Ensembl |
|
|
CA362529107 rs1235671181 |
214 | V>L | No |
ClinGen gnomAD |
|
|
rs1333217705 CA362529089 |
215 | A>V | No |
ClinGen gnomAD |
|
|
CA362529082 rs1246418968 |
216 | P>R | No |
ClinGen TOPMed |
|
|
rs1293034718 CA362529086 |
216 | P>S | No |
ClinGen gnomAD |
|
|
rs771948415 CA3607642 |
218 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362529016 rs1296613151 |
219 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA362528961 rs1350539163 |
220 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs112966353 CA133263707 |
220 | E>Q | No |
ClinGen Ensembl |
|
|
CA3607640 rs7726005 |
223 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3607639 VAR_028272 rs7726005 |
223 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM3776596 CA3607641 rs745639734 |
223 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA362528864 rs1460011195 |
224 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 225 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3607638 rs749524066 |
226 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM117399 rs149151044 CA3607637 |
227 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149151044 CA3607636 |
227 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362528788 rs149151044 |
227 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362528793 rs1159671979 |
227 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3607634 rs781702757 |
228 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964619702 CA133263635 |
230 | K>R | No |
ClinGen TOPMed |
|
|
COSM1620178 CA362528702 rs1247932787 |
232 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs755471140 CA362528666 |
233 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1467500911 CA362528648 |
233 | P>L | No |
ClinGen gnomAD |
|
|
rs755471140 CA3607633 |
233 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs10479584 CA133263614 |
234 | S>F | No |
ClinGen gnomAD |
|
|
CA3607632 rs751905646 |
234 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs756906457 CA3607630 |
238 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA133263575 rs987294514 |
242 | N>S | No |
ClinGen TOPMed |
|
|
COSM420745 CA3607628 rs763900845 |
243 | D>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1438754818 CA362528448 |
243 | D>H | No |
ClinGen gnomAD |
|
|
rs760243848 CA3607627 |
244 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557462333 CA3607625 |
246 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759412303 CA3607624 |
248 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA362528268 rs1426708035 |
249 | M>I | No |
ClinGen gnomAD |
|
|
CA3607623 rs534612859 |
249 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534612859 CA362528276 |
249 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3607622 rs770635923 |
251 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA362528180 rs770050807 |
252 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145189550 CA3607620 |
252 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770050807 CA3607619 |
252 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607618 rs748186735 |
253 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA362528092 rs1215389891 |
257 | L>V | No |
ClinGen gnomAD |
|
|
CA362528074 rs1313032227 |
258 | L>F | No |
ClinGen gnomAD |
|
|
rs1313032227 CA362528075 |
258 | L>V | No |
ClinGen gnomAD |
|
|
CA362528046 rs1224196958 |
259 | Y>S | No |
ClinGen TOPMed |
|
|
CA362528038 rs1225858779 |
260 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1066852 CA3607616 rs769149714 |
260 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780680621 CA3607614 |
261 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs750871518 CA362527985 |
262 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362527963 rs1205962728 |
263 | F>L | No |
ClinGen TOPMed |
|
|
CA362527810 rs1360558183 |
272 | L>F | No |
ClinGen gnomAD |
|
|
CA362527805 rs1397645876 |
273 | A>G | No |
ClinGen gnomAD |
|
|
CA362527802 rs1433635301 |
274 | E>K | No |
ClinGen gnomAD |
|
|
rs752199692 CA3607609 |
277 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs150019176 CA3607606 |
281 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483749733 CA362527666 |
282 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1428952572 CA362527660 |
282 | K>R | No |
ClinGen TOPMed |
|
|
rs139296602 CA3607604 |
285 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs908109609 CA133263442 |
286 | A>S | No |
ClinGen gnomAD |
|
|
rs1561816895 CA362527568 |
287 | F>L | No |
ClinGen Ensembl |
|
|
rs1208990929 CA362527539 |
288 | W>S | No |
ClinGen gnomAD |
|
|
CA3607600 rs762037486 |
294 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362527434 rs369862178 |
294 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362527414 rs998553294 |
295 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1448028839 CA362527404 |
295 | P>L | No |
ClinGen gnomAD |
|
|
CA133263414 rs998553294 |
295 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362527395 rs1357134117 |
296 | E>G | No |
ClinGen gnomAD |
|
|
rs768616615 CA3607598 |
297 | Q>E | No |
ClinGen ExAC |
|
| TCGA novel | 298 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982393349 CA133263373 |
298 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1370681184 CA362527352 |
300 | G>R | No |
ClinGen gnomAD |
|
|
CA133263371 rs970885063 |
300 | G>V | No |
ClinGen Ensembl |
|
|
CA133263325 rs1029101893 |
301 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772749315 CA3607594 |
301 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA362527340 rs1029101893 |
301 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA362527328 rs1581795334 |
302 | A>G | No |
ClinGen Ensembl |
|
|
rs573544483 CA3607592 |
304 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424828541 CA362527298 |
304 | I>M | No |
ClinGen gnomAD |
|
|
CA3607593 rs573544483 |
304 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1420454585 CA362527291 |
305 | R>C | No |
ClinGen gnomAD |
|
|
CA362527256 rs1485447747 |
308 | I>V | No |
ClinGen gnomAD |
|
|
rs780962874 CA3607589 |
312 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479663644 CA362527153 |
316 | R>C | No |
ClinGen gnomAD |
|
|
COSM262007 rs1250760987 CA362527151 |
316 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA362527147 rs1250760987 |
316 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362527149 rs1250760987 |
316 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362527137 rs1336739141 |
317 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3607587 rs751128692 |
319 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1169200618 CA362527108 |
320 | S>I | No |
ClinGen TOPMed |
|
|
rs766271880 CA3607586 |
321 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA133263240 rs895370944 |
321 | H>R | No |
ClinGen TOPMed |
|
|
rs766271880 CA362527096 |
321 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750161785 CA3607584 |
324 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761737308 CA3607582 COSM1567742 |
330 | K>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362526919 rs1462404680 |
336 | Q>R | No |
ClinGen gnomAD |
|
|
rs764428566 CA3607580 |
337 | Q>R | No |
ClinGen ExAC |
|
|
CA362526891 rs966711110 |
340 | H>P | No |
ClinGen TOPMed |
|
|
CA133263154 rs966711110 |
340 | H>R | No |
ClinGen TOPMed |
|
|
CA362526871 rs1277008232 |
343 | Q>* | No |
ClinGen gnomAD |
|
|
CA3607579 rs760644775 |
344 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3607578 rs775738977 |
347 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3607575 rs774787876 |
351 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133263082 rs1020150778 |
351 | R>W | No |
ClinGen Ensembl |
|
|
rs1008728358 CA133263056 |
353 | A>V | No |
ClinGen TOPMed |
|
|
CA362526790 rs1218730799 |
356 | R>* | No |
ClinGen TOPMed |
|
|
rs771415917 CA133263044 |
356 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607574 rs771415917 |
356 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749717945 CA3607573 |
359 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773388886 CA133263024 |
361 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773388886 CA3607570 |
361 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362526759 rs1485631759 |
361 | R>H | No |
ClinGen Ensembl |
|
|
rs1311974324 CA362526753 |
362 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA362526755 rs148413292 |
362 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3607568 rs148413292 |
362 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362526743 rs371940522 |
364 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3607565 rs371940522 |
364 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362526730 rs1371930234 |
366 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362526721 rs1386120514 |
367 | Q>H | No |
ClinGen gnomAD |
|
|
CA133262931 rs772134129 |
367 | Q>R | No |
ClinGen Ensembl |
|
|
CA362526708 rs940340478 CA133262927 |
369 | Q>H | No |
ClinGen gnomAD |
|
|
CA362526703 rs1451860949 |
370 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753710315 CA3607564 |
375 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362526669 rs1455601835 |
375 | T>S | No |
ClinGen gnomAD |
|
|
CA3607563 rs764185955 |
376 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1430731097 CA362526657 |
377 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA133262882 rs907582342 |
377 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3607562 rs775650836 |
378 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs144433730 CA3607560 |
378 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144433730 CA3607559 |
378 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3607561 rs775650836 |
378 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs2070924 CA362526635 |
381 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1256168973 CA362526628 |
382 | G>E | No |
ClinGen gnomAD |
|
|
CA362526630 rs1436485381 |
382 | G>R | No |
ClinGen TOPMed |
|
|
rs1581792993 CA362526613 |
384 | V>G | No |
ClinGen Ensembl |
|
|
rs763195928 CA3607556 |
384 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs746679758 CA3607553 |
385 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362526611 rs1459793640 |
385 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA133262782 rs991372878 |
386 | V>M | No |
ClinGen Ensembl |
|
|
COSM1436712 rs368412689 CA3607550 |
389 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA133262730 rs376158612 |
391 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA362526563 rs1393331876 |
392 | D>E | No |
ClinGen gnomAD |
|
|
rs778793880 CA3607549 |
392 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs757253996 CA3607548 |
395 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3607547 rs753531912 |
397 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756220770 COSM1066849 CA3607545 |
398 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs571716109 CA3607544 |
399 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759664852 CA3607542 |
400 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA362526504 rs1345184096 |
402 | G>S | No |
ClinGen gnomAD |
|
|
rs1228447834 CA362526427 |
408 | K>T | No |
ClinGen gnomAD |
|
|
CA3607540 rs766755154 |
409 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607538 rs773382421 |
411 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607537 rs770191191 |
412 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3607530 rs773264389 |
416 | Y>* | No |
ClinGen ExAC |
|
|
CA3607528 rs778512465 |
417 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143215737 CA3607529 |
417 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352259658 CA362526256 |
419 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3607526 rs139241836 |
419 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777636039 CA3607525 |
420 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581791832 CA362526238 |
421 | T>P | No |
ClinGen Ensembl |
|
|
rs752587018 CA3607523 |
422 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1484506031 CA362526200 |
423 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1208976053 CA362526183 |
424 | F>S | No |
ClinGen TOPMed |
|
|
rs766483898 CA3607518 |
425 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607520 rs151044774 |
425 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1213311651 CA362526148 |
426 | G>D | No |
ClinGen gnomAD |
|
|
rs1213311651 CA362526150 |
426 | G>V | No |
ClinGen gnomAD |
|
|
rs765710174 CA3607515 |
427 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607514 COSM1215031 rs143669018 |
427 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA362526132 rs1183965942 |
428 | R>C | No |
ClinGen TOPMed |
|
|
rs781080104 CA3607513 |
428 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767104108 CA3607511 |
430 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3607510 rs759196211 |
432 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1409272343 CA362526061 |
433 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362526046 rs1166862977 |
434 | P>S | No |
ClinGen gnomAD |
|
|
CA3607507 VAR_028273 rs634501 |
435 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362526030 rs634501 |
435 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3607505 rs769894108 |
436 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3607503 rs781157965 |
437 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA362526005 rs1230654169 |
437 | W>L | No |
ClinGen gnomAD |
|
|
rs760379399 CA3607501 |
440 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3607499 rs758481249 |
441 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs368336744 CA133262392 |
442 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368336744 CA362525932 |
442 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1361319277 CA362525889 |
444 | W>* | No |
ClinGen TOPMed |
|
|
CA362525877 rs1224525717 |
445 | N>D | No |
ClinGen gnomAD |
No associated diseases with P26572
No regional properties for P26572
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P26572 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.101 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum-Golgi intermediate compartment membrane | The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylglucosaminyltransferase activity | Catalysis of the transfer of an N-acetylglucosaminyl residue from UDP-N-acetyl-glucosamine to a sugar. |
| alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity | Catalysis of the reaction: 3-(alpha-D-mannosyl)-beta-D-mannosyl-R + UDP-N-acetyl-alpha-D-glucosamine = 3-(2--alpha-D-mannosyl)-beta-D-mannosyl-R + H(+) + UDP. |
| manganese ion binding | Binding to a manganese ion (Mn). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
| protein N-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. |
| protein N-linked glycosylation via asparagine | The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification. |
| UDP-N-acetylglucosamine catabolic process | The chemical reactions and pathways resulting in the breakdown of UDP-N-acetylglucosamine, a substance composed of N-acetylglucosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate. |
| viral protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P27808 | Mgat1 | Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Mus musculus (Mouse) | PR |
| Q09325 | Mgat1 | Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Rattus norvegicus (Rat) | PR |
| Q11068 | gly-13 | Putative alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLKKQSAGLV | LWGAILFVAW | NALLLLFFWT | RPAPGRPPSV | SALDGDPASL | TREVIRLAQD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AEVELERQRG | LLQQIGDALS | SQRGRVPTAA | PPAQPRVPVT | PAPAVIPILV | IACDRSTVRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CLDKLLHYRP | SAELFPIIVS | QDCGHEETAQ | AIASYGSAVT | HIRQPDLSSI | AVPPDHRKFQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GYYKIARHYR | WALGQVFRQF | RFPAAVVVED | DLEVAPDFFE | YFRATYPLLK | ADPSLWCVSA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WNDNGKEQMV | DASRPELLYR | TDFFPGLGWL | LLAELWAELE | PKWPKAFWDD | WMRRPEQRQG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RACIRPEISR | TMTFGRKGVS | HGQFFDQHLK | FIKLNQQFVH | FTQLDLSYLQ | REAYDRDFLA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RVYGAPQLQV | EKVRTNDRKE | LGEVRVQYTG | RDSFKAFAKA | LGVMDDLKSG | VPRAGYRGIV |
| 430 | 440 | ||||
| TFQFRGRRVH | LAPPLTWEGY | DPSWN |