Q9UK23
Gene name |
NAGPA |
Protein name |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
Names |
Mannose 6-phosphate-uncovering enzyme, Phosphodiester alpha-GlcNAcase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51172 |
EC number |
3.1.4.45: Phosphoric diester hydrolases |
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 Q9UK23
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UK23-F1 | Predicted | AlphaFoldDB |
625 variants for Q9UK23
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_073225 rs755458782 CA278900 RCV000023671 |
84 | H>Q | Stuttering, familial persistent, 2 rare variant; found in individuals suffering from stuttering; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000023672 CA278610 rs139526942 VAR_073226 |
328 | R>C | Stuttering, familial persistent, 2 rare variant; found in individuals suffering from stuttering; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA277168589 rs1054520738 |
2 | A>E | No |
ClinGen gnomAD |
|
|
CA394669353 rs1199388261 |
2 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7888999 rs769231389 |
3 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA394669344 rs1596671606 |
3 | T>P | No |
ClinGen Ensembl |
|
|
CA394669329 rs1433608675 |
4 | S>C | No |
ClinGen TOPMed |
|
|
CA394669322 rs1268133707 |
5 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1225518688 CA394669311 COSM1708719 |
5 | T>M | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA394669300 rs1218006989 |
6 | G>V | No |
ClinGen TOPMed |
|
|
CA7888997 rs780511157 |
7 | R>S | No |
ClinGen ExAC |
|
|
rs1313603972 COSM1378267 CA394669281 |
8 | W>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7888996 rs772320265 |
9 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs911192297 CA277168522 |
10 | L>F | No |
ClinGen TOPMed |
|
|
CA394669259 rs1374214459 |
10 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1007237733 CA277168518 |
11 | L>F | No |
ClinGen TOPMed |
|
|
rs985903141 CA277168515 |
11 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA277168514 rs985903141 |
11 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1166450027 CA394669240 |
12 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1166450027 CA394669242 |
12 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs372096002 CA7888994 |
12 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394669236 rs1473615201 |
13 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 16 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277168502 rs558456065 |
17 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1253282100 CA394669167 |
18 | F>L | No |
ClinGen gnomAD |
|
|
CA277168498 rs999904620 |
18 | F>L | No |
ClinGen TOPMed |
|
|
rs1182825611 CA394669155 |
19 | L>I | No |
ClinGen gnomAD |
|
|
rs1482648154 CA394669149 |
19 | L>P | No |
ClinGen gnomAD |
|
|
rs1270701466 CA394669144 |
20 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs975985119 CA277168497 |
21 | E>G | No |
ClinGen Ensembl |
|
|
CA7888993 rs756904501 |
21 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7888992 rs367838663 |
22 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309495007 CA394669110 |
22 | A>S | No |
ClinGen gnomAD |
|
|
CA394669093 rs1353668788 |
23 | S>Y | No |
ClinGen gnomAD |
|
|
CA7888991 rs777398400 |
24 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1410979269 CA394669074 |
25 | G>C | No |
ClinGen gnomAD |
|
|
CA394669079 rs1410979269 |
25 | G>S | No |
ClinGen gnomAD |
|
|
CA394669063 rs1327340771 |
26 | L>F | No |
ClinGen gnomAD |
|
|
rs1327340771 CA394669065 |
26 | L>V | No |
ClinGen gnomAD |
|
|
rs756116139 CA7888990 |
27 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277168461 rs904096255 |
27 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs74952829 CA394669024 |
28 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs74952829 CA7888989 RCV000890192 |
28 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1342940079 CA394668976 |
30 | A>V | No |
ClinGen gnomAD |
|
|
CA394668966 rs1481716264 |
31 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394668933 rs1171581949 |
33 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs764293414 CA7888960 |
33 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7888959 rs760685655 |
34 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394668931 rs1232875183 |
34 | D>N | No |
ClinGen gnomAD |
|
|
rs891930254 CA277168326 |
35 | D>E | No |
ClinGen Ensembl |
|
|
rs1390519793 CA394668914 |
35 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1390519793 CA394668911 |
35 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394668896 rs1459318971 |
36 | L>* | No |
ClinGen TOPMed |
|
|
CA394668876 rs1475167796 |
38 | L>M | No |
ClinGen gnomAD |
|
|
CA394668872 rs1240494628 |
38 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965950443 CA277168315 |
40 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394668852 rs1486311390 |
40 | Y>D | No |
ClinGen gnomAD |
|
|
rs1486311390 CA394668854 |
40 | Y>H | No |
ClinGen gnomAD |
|
|
CA394668838 rs1344784742 |
41 | P>L | No |
ClinGen gnomAD |
|
|
rs567399771 CA7888958 |
41 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394668843 rs567399771 |
41 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA277168313 rs1054637014 |
42 | R>G | No |
ClinGen Ensembl |
|
|
CA7888957 rs767942322 |
42 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs774894492 CA394668811 |
43 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7888955 rs774894492 |
43 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs374266430 CA7888952 |
44 | R>P | No |
ClinGen 1000Genomes TOPMed |
|
|
rs769417523 CA7888949 |
45 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780701379 CA7888947 |
46 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888945 rs371054576 |
47 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
CA394668744 rs1169475682 |
48 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 48 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7888939 rs758180831 |
50 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750175079 CA394668695 |
52 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764228417 CA7888937 |
52 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750175079 CA7888938 |
52 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756320574 CA7888936 |
53 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186439242 CA394668677 |
53 | R>W | No |
ClinGen gnomAD |
|
|
CA394668657 rs1252325409 |
55 | R>C | No |
ClinGen gnomAD |
|
|
CA7888935 rs551231765 |
56 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394668647 rs551231765 |
56 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7888934 rs767601581 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888933 rs760186473 |
57 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA7888932 rs752098457 |
57 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760186473 CA394668640 |
57 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA277168213 rs902872445 |
58 | N>H | No |
ClinGen TOPMed |
|
|
rs1411653190 CA394668620 |
58 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773582869 CA7888929 |
60 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668599 rs773582869 |
60 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668573 rs1351362482 |
61 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394668568 CA394668570 rs761502342 |
61 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776047179 CA394668561 |
62 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768153175 CA7888925 |
62 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888926 rs776047179 |
62 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896748298 CA277168176 |
63 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 64 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757955863 CA277168171 |
65 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7888924 rs747010884 |
66 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668498 rs1392659410 |
66 | P>S | No |
ClinGen gnomAD |
|
|
rs779983941 CA394668489 |
67 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668481 rs1177031184 |
67 | P>L | No |
ClinGen gnomAD |
|
|
CA7888923 rs779983941 |
67 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668475 rs1479882564 |
68 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394668479 rs1479882564 |
68 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7888920 rs373423815 |
69 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394668467 rs373423815 |
69 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs531537200 CA277168153 |
71 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7888918 rs758623566 |
71 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888919 rs531537200 |
71 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1229670764 CA394668436 |
72 | G>S | No |
ClinGen gnomAD |
|
|
rs755122540 CA7888914 |
73 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755122540 CA394668406 |
73 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336784696 CA394668414 |
73 | A>P | No |
ClinGen TOPMed |
|
|
rs1336784696 CA394668416 |
73 | A>T | No |
ClinGen TOPMed |
|
|
rs767020820 CA7888912 |
74 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750799727 CA7888910 |
75 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1442002680 CA394668388 |
75 | G>S | No |
ClinGen gnomAD |
|
|
rs750799727 CA394668377 |
75 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs765606562 CA7888909 |
76 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394668325 rs1364418307 |
78 | V>L | No |
ClinGen gnomAD |
|
|
rs1417795888 CA394668302 |
79 | R>C | No |
ClinGen gnomAD |
|
|
CA7888906 rs373128375 RCV000896689 |
79 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7888905 rs760183363 |
80 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA277168064 rs753282950 |
82 | V>G | No |
ClinGen Ensembl |
|
|
rs889971566 CA394668243 |
83 | S>L | No |
ClinGen gnomAD |
|
|
rs779242474 CA7888904 |
83 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277168062 rs889971566 |
83 | S>W | No |
ClinGen gnomAD |
|
|
rs772021271 CA7888903 |
84 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778638792 CA7888902 |
86 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277168058 rs778638792 |
86 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753960829 CA7888901 |
86 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668159 rs1243703634 |
87 | D>N | No |
ClinGen TOPMed |
|
|
CA277168048 rs766439367 |
88 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394668139 rs766439367 |
88 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1301567430 CA394668134 |
88 | R>L | No |
ClinGen gnomAD |
|
|
CA394668128 rs1216735213 |
89 | A>S | No |
ClinGen TOPMed |
|
|
CA394668121 rs1262340392 |
89 | A>V | No |
ClinGen TOPMed |
|
|
rs537314942 CA277168047 |
90 | V>M | No |
ClinGen gnomAD |
|
|
rs781569034 CA7888899 |
91 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA277168040 rs764779114 |
93 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394668061 rs764779114 |
93 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs751708486 CA7888897 |
95 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668017 rs751708486 |
95 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394668006 rs1190124756 |
96 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394668010 rs1190124756 |
96 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780256576 CA7888896 |
96 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353571043 CA394667990 |
97 | A>V | No |
ClinGen gnomAD |
|
|
TCGA novel CA394667988 rs1260513327 |
98 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394667987 rs1260513327 |
98 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7888894 rs750938628 |
100 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA394667933 rs1303790569 |
102 | R>S | No |
ClinGen TOPMed |
|
|
CA7888892 rs757657354 |
105 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA394667880 rs1380569297 |
106 | V>M | No |
ClinGen gnomAD |
|
|
CA277168021 rs978511040 |
108 | E>A | No |
ClinGen TOPMed |
|
|
CA7888891 rs754139053 |
108 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394667860 rs1357400606 |
108 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394667858 rs1357400606 |
108 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763768552 CA394667844 |
109 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763768552 CA7888890 |
109 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394667828 rs1374030518 |
110 | G>D | No |
ClinGen gnomAD |
|
|
CA394667819 rs1170002897 |
111 | G>* | No |
ClinGen gnomAD |
|
|
CA7888887 rs767007994 |
112 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774358156 CA7888885 |
113 | G>R | No |
ClinGen ExAC |
|
|
rs1475921238 CA394667785 |
113 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1187155872 CA394667779 |
114 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1484613583 CA394667746 |
116 | A>S | No |
ClinGen gnomAD |
|
|
CA7888882 rs540387207 |
116 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394667738 rs1340366206 |
117 | A>T | No |
ClinGen gnomAD |
|
|
CA7888880 rs747200616 |
118 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394667728 rs577942444 |
118 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577942444 CA7888879 |
118 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745882066 CA7888877 |
118 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7888878 rs577942444 |
118 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7888876 rs779483474 |
119 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779483474 CA394667724 |
119 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779483474 CA277167931 |
119 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331351693 CA394667721 |
120 | R>C | No |
ClinGen gnomAD |
|
|
CA7888873 rs376983449 |
121 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7888874 rs376983449 |
121 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163582236 CA394667705 |
123 | V>E | No |
ClinGen gnomAD |
|
|
CA7888871 rs752331103 |
123 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394667707 rs752331103 |
123 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474221128 CA394667702 |
124 | E>K | No |
ClinGen gnomAD |
|
|
rs1474221128 CA394667701 |
124 | E>Q | No |
ClinGen gnomAD |
|
|
rs1234514153 CA394667694 |
125 | E>K | No |
ClinGen gnomAD |
|
|
CA394667681 rs1182381070 |
126 | T>M | No |
ClinGen gnomAD |
|
|
CA7888869 rs759090418 |
127 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888867 rs766358837 |
128 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs762958744 CA7888866 |
129 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs762958744 CA277167875 |
129 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA394667651 rs1281801499 |
131 | D>Y | No |
ClinGen gnomAD |
|
|
rs773180648 CA394667633 |
132 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888865 rs773180648 |
132 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277167872 rs769705244 |
133 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747294639 CA7888863 |
133 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7888864 rs769705244 |
133 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324675283 CA394667610 |
134 | V>I | No |
ClinGen gnomAD |
|
|
CA7888861 rs772119932 |
135 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA394667576 rs1418831913 |
136 | Q>* | No |
ClinGen gnomAD |
|
|
CA394667532 rs757835068 |
139 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394667537 rs1361908653 |
139 | G>S | No |
ClinGen gnomAD |
|
|
CA7888858 rs757835068 |
139 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756481058 CA7888856 |
142 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752989286 CA394667487 |
142 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888854 rs752989286 |
142 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756481058 CA7888855 |
142 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7888853 rs780925842 |
143 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998668179 CA277167823 |
146 | G>S | No |
ClinGen Ensembl |
|
|
rs763048484 CA7888849 |
149 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA7888850 rs765773615 |
149 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs189630368 CA7888848 |
152 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1236906353 CA394667272 |
152 | V>M | No |
ClinGen gnomAD |
|
|
rs1438180379 CA394667236 |
153 | V>G | No |
ClinGen gnomAD |
|
|
rs757080753 CA7888846 |
154 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986035550 CA277167802 |
154 | S>R | No |
ClinGen TOPMed |
|
|
CA7888844 rs555992031 |
156 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555992031 CA7888845 |
156 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1400115024 CA394667160 |
157 | R>W | No |
ClinGen gnomAD |
|
|
CA394667148 rs1382656589 |
158 | R>Q | No |
ClinGen gnomAD |
|
|
CA7888843 rs759659612 |
159 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA277167785 rs1036974117 |
159 | V>M | No |
ClinGen Ensembl |
|
|
CA394667132 rs1596670084 |
160 | S>G | No |
ClinGen Ensembl |
|
|
CA394667089 rs1221687376 |
162 | S>F | No |
ClinGen TOPMed |
|
|
rs1567142845 CA394667099 |
162 | S>P | No |
ClinGen Ensembl |
|
|
CA7888840 rs535996462 |
163 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7888839 rs778254053 |
164 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA394667075 rs1243972266 CA394667076 |
164 | G>R | No |
ClinGen TOPMed gnomAD |
|
| rs761809784 | 165 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 168 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7888836 rs748530288 |
169 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1217179383 CA394666974 |
170 | F>L | No |
ClinGen gnomAD |
|
|
rs754698931 CA7888834 |
171 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781388462 CA7888835 |
171 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888833 rs371741432 |
172 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567142778 CA394666941 |
173 | R>C | No |
ClinGen Ensembl |
|
|
CA394666938 rs1324122220 |
173 | R>H | No |
ClinGen gnomAD |
|
|
CA277167759 rs1049428113 |
174 | R>S | No |
ClinGen TOPMed |
|
|
CA394666929 rs1374638042 |
175 | D>G | No |
ClinGen gnomAD |
|
|
rs757997546 CA7888832 |
175 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7888831 rs757997546 |
175 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA277167748 CA7888830 rs573363602 |
176 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1166545860 CA394666920 |
177 | T>A | No |
ClinGen TOPMed |
|
|
rs536449176 CA277167739 |
178 | L>V | No |
ClinGen Ensembl |
|
|
CA394665621 rs1329407551 |
185 | E>D | No |
ClinGen gnomAD |
|
|
rs1567141749 CA394665601 |
186 | E>D | No |
ClinGen Ensembl |
|
|
CA394665612 rs1567141753 |
186 | E>K | No |
ClinGen Ensembl |
|
|
CA7888793 rs373224955 |
187 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1567141744 CA394665590 |
187 | E>V | No |
ClinGen Ensembl |
|
|
CA7888792 rs138721187 |
188 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7888791 rs771900260 |
189 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778637588 CA7888789 |
191 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394665553 rs778637588 |
191 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394665551 rs778637588 |
191 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888787 rs748777017 |
192 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs777599519 CA7888786 |
193 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA7888785 rs756025806 |
194 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA394665471 rs1346007408 |
195 | F>I | No |
ClinGen TOPMed |
|
|
rs1434566978 CA394665424 |
197 | Q>* | No |
ClinGen TOPMed |
|
|
rs146071322 CA7888784 |
197 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376620112 CA7888782 |
199 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277166844 rs934850844 |
200 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394665360 rs1398771926 |
200 | S>R | No |
ClinGen gnomAD |
|
|
rs934850844 CA394665367 |
200 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765383118 CA7888780 |
201 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394665313 rs1395832775 |
202 | V>G | No |
ClinGen gnomAD |
|
|
rs761805447 CA7888779 |
202 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs142777588 CA7888777 |
203 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394665260 rs1462128562 |
205 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1462128562 CA394665258 |
205 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394665261 rs1285469871 |
205 | L>V | No |
ClinGen TOPMed |
|
|
CA7888774 rs772564903 |
206 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394665255 rs772564903 |
206 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888773 rs563568796 |
207 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs145897634 CA394665232 |
207 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394665228 rs145897634 |
207 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145897634 CA7888772 |
207 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394665214 rs1186686526 |
208 | N>S | No |
ClinGen gnomAD |
|
|
CA277166817 rs974485897 |
209 | G>R | No |
ClinGen TOPMed |
|
|
CA394665151 rs1160230707 |
211 | I>V | No |
ClinGen TOPMed |
|
|
CA277166810 rs367875684 |
213 | I>V | No |
ClinGen Ensembl |
|
|
CA7888770 rs777312583 |
214 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs140529374 CA7888771 |
214 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs575036159 CA7888767 |
215 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7888766 rs373325172 |
215 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7888768 rs769655466 |
215 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555338465 CA7888764 |
218 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754779256 CA7888765 |
218 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1012506844 CA277166768 |
221 | C>R | No |
ClinGen TOPMed |
|
|
rs757454165 CA277166764 |
222 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394664921 rs1328745834 |
223 | E>D | No |
ClinGen gnomAD |
|
|
CA7888760 rs764203636 |
223 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs143077001 CA7888761 |
223 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567141587 CA394664891 |
225 | Q>R | No |
ClinGen Ensembl |
|
|
CA394664872 rs200736428 |
226 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200736428 CA7888759 |
226 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753247110 CA394664843 |
228 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888758 rs753247110 |
228 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236112150 CA394664541 |
229 | S>F | No |
ClinGen gnomAD |
|
|
rs1273786543 CA394664522 |
230 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs556410594 CA277166074 |
230 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1311016539 CA394664480 |
232 | K>* | No |
ClinGen TOPMed |
|
|
rs777777436 CA394664433 CA7888743 |
234 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7888740 rs149067161 |
237 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372687131 CA7888741 |
237 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1175280574 CA394664324 |
238 | S>L | No |
ClinGen gnomAD |
|
|
rs1358453493 CA394664339 |
238 | S>T | No |
ClinGen gnomAD |
|
|
CA394664285 rs369118431 |
241 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369118431 CA7888739 |
241 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394664262 rs1033498304 |
243 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA277166063 rs1033498304 |
243 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394664227 rs1243847815 |
244 | G>D | No |
ClinGen gnomAD |
|
|
rs1379036102 CA394664232 |
244 | G>R | No |
ClinGen gnomAD |
|
|
CA394664210 rs1195046019 |
245 | H>Y | No |
ClinGen gnomAD |
|
|
CA394664156 rs766476242 |
246 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766757654 CA7888737 |
246 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394664162 rs766757654 |
246 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375819673 CA7888735 |
247 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313101051 CA394664149 |
247 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764727066 CA7888734 |
248 | K>Q | No |
ClinGen ExAC |
|
|
rs1217051088 CA394664115 |
249 | G>E | No |
ClinGen gnomAD |
|
|
CA7888733 rs372401616 |
250 | Q>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs906380972 CA277166032 |
252 | V>L | No |
ClinGen Ensembl |
|
|
CA394664035 rs1270257806 |
254 | F>S | No |
ClinGen gnomAD |
|
|
rs1338297764 CA394664016 |
255 | H>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 255 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314544104 CA394663986 |
256 | A>S | No |
ClinGen gnomAD |
|
|
rs1314544104 CA394663975 |
256 | A>T | No |
ClinGen gnomAD |
|
|
rs776070820 CA394663938 |
257 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415193835 CA394663944 |
257 | D>G | No |
ClinGen gnomAD |
|
|
rs1207501460 CA394663949 |
257 | D>Y | No |
ClinGen gnomAD |
|
|
CA277166029 rs868826869 |
258 | G>D | No |
ClinGen Ensembl |
|
|
COSM179092 CA394663927 rs1333754646 |
258 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7888731 rs768631801 |
259 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394663885 rs1421810124 |
260 | T>A | No |
ClinGen gnomAD |
|
|
rs1009738117 CA394663876 |
260 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA277166024 rs1009738117 |
260 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1422139534 CA394663825 |
262 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs918720031 CA277166017 |
263 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394663803 rs1483788196 COSM3771962 |
263 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1483788196 CA394663788 |
263 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394663770 rs1212788262 |
264 | G>D | No |
ClinGen gnomAD |
|
|
CA7888700 rs1555445214 |
265 | I>V | No |
ClinGen Ensembl |
|
|
rs765557288 CA7888696 COSM1678826 |
268 | W>* | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1354170633 CA394663000 |
268 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750850261 CA7888697 |
268 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs116398133 CA7888695 |
269 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs1195452454 CA394662968 |
270 | M>V | No |
ClinGen TOPMed |
|
|
CA394662943 rs141149941 |
271 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7888694 rs141149941 |
271 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752111392 CA7888690 |
273 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA277161533 rs1048813615 |
273 | F>L | No |
ClinGen Ensembl |
|
|
CA7888689 rs767515913 |
276 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA277161522 rs1027719796 |
277 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759357440 CA7888688 |
278 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7888685 rs762778282 |
279 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA7888687 rs770833107 |
279 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770833107 CA7888686 |
279 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147838773 CA7888683 |
280 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147838773 CA7888682 |
280 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7888679 rs746356156 |
282 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888680 rs772676182 |
282 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139565850 CA7888678 |
284 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139565850 CA277161494 |
284 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1286374016 CA394662773 |
285 | L>V | No |
ClinGen gnomAD |
|
|
CA394662762 rs1234150276 COSM1519479 |
286 | D>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA277161493 rs978799496 |
287 | G>R | No |
ClinGen TOPMed |
|
|
rs757635332 CA7888677 |
288 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555794005 CA7888674 |
290 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394662691 rs1298021309 |
292 | T>S | No |
ClinGen gnomAD |
|
|
CA394662670 rs1421405982 |
294 | V>L | No |
ClinGen TOPMed |
|
|
CA7888672 rs371976728 |
296 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7888670 rs751552788 |
297 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1042800909 CA277161470 |
297 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA277161464 rs945789351 |
300 | A>D | No |
ClinGen TOPMed |
|
|
rs768971585 CA7888666 |
301 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1290944090 CA394662559 |
302 | Y>* | No |
ClinGen TOPMed |
|
|
CA7888665 rs760778685 |
302 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs772034051 CA7888663 |
303 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867116614 CA277161454 |
303 | P>L | No |
ClinGen Ensembl |
|
|
rs775705425 CA7888664 |
303 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254374511 CA394662537 |
304 | S>* | No |
ClinGen gnomAD |
|
|
CA394662515 rs1596663132 |
306 | H>N | No |
ClinGen Ensembl |
|
|
rs779401062 CA7888660 |
306 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7888658 rs771389815 |
307 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394662475 rs1183942020 |
309 | D>E | No |
ClinGen gnomAD |
|
|
rs766429170 CA7888620 |
309 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369403961 CA7888619 |
310 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1407539465 CA394662461 |
311 | M>L | No |
ClinGen TOPMed |
|
|
rs1236572192 CA394662455 |
311 | M>T | No |
ClinGen gnomAD |
|
|
CA7888617 rs773594710 |
312 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557375030 CA277161027 |
313 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs969769612 CA277161024 |
313 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs969769612 CA394662425 |
313 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7888616 rs770293026 |
315 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7888615 rs748481863 |
316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888614 rs201325687 |
316 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394662392 rs201325687 |
316 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378122766 CA394662384 |
317 | Q>R | No |
ClinGen gnomAD |
|
|
CA394662369 rs1229935347 |
318 | V>A | No |
ClinGen TOPMed |
|
|
CA394662353 rs1450647488 |
320 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779769498 COSM1678825 CA7888611 |
321 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757997529 CA7888610 |
322 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394662334 rs1446761536 |
322 | V>L | No |
ClinGen gnomAD |
|
|
rs1446761536 CA394662337 |
322 | V>M | No |
ClinGen gnomAD |
|
|
CA394662323 rs1406328285 |
323 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394662314 rs1413457985 |
324 | V>M | No |
ClinGen gnomAD |
|
|
CA394662283 rs1473846012 |
326 | E>G | No |
ClinGen TOPMed |
|
|
rs373127083 CA7888606 |
326 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373127083 CA7888607 |
326 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394662272 rs1413793446 |
327 | P>L | No |
ClinGen TOPMed |
|
|
rs777596117 CA394662276 |
327 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888605 rs777596117 |
327 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139526942 CA394662268 |
328 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7888604 rs146390725 |
328 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs887299809 CA277160983 |
330 | Q>R | No |
ClinGen Ensembl |
|
|
rs757866039 CA7888603 |
331 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244111084 CA394662230 |
332 | P>S | No |
ClinGen gnomAD |
|
|
CA277160965 rs1005093713 |
333 | D>H | No |
ClinGen TOPMed |
|
|
CA394662207 rs1310199656 |
334 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1356099470 CA394662211 |
334 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394662205 rs1310199656 |
334 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394662203 rs1310199656 |
334 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs377245129 CA7888599 |
336 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769130183 CA7888598 |
337 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761063988 CA7888596 |
338 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752371706 CA7888592 |
341 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752371706 CA7888593 COSM1239545 |
341 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA277160936 rs915776125 |
342 | D>H | No |
ClinGen gnomAD |
|
|
CA394661179 rs915776125 |
342 | D>Y | No |
ClinGen gnomAD |
|
|
rs138879372 CA7888589 |
343 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780274520 CA7888586 |
344 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA7888585 rs758595502 |
344 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7888587 rs780274520 |
344 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394661100 rs1287017369 |
347 | C>R | No |
ClinGen gnomAD |
|
|
CA394661098 rs1238533396 |
347 | C>Y | No |
ClinGen gnomAD |
|
|
CA394661079 rs1181094132 |
348 | T>S | No |
ClinGen TOPMed |
|
|
rs765353528 CA7888583 |
349 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1345406933 CA394661043 |
350 | H>P | No |
ClinGen gnomAD |
|
|
CA277160893 rs914540605 |
350 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394661046 rs1220357557 |
350 | H>Y | No |
ClinGen gnomAD |
|
|
rs762285740 CA7888582 |
352 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1053568854 CA277160878 |
353 | R>Q | No |
ClinGen TOPMed |
|
|
rs754382721 CA7888581 |
353 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764630462 CA7888580 |
354 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394660968 rs1358103526 |
354 | G>V | No |
ClinGen TOPMed |
|
|
rs1450319441 CA394660967 |
355 | P>A | No |
ClinGen TOPMed |
|
|
CA394660942 rs150254440 |
356 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7888577 rs150254440 |
356 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1427153720 CA394660901 |
358 | D>Y | No |
ClinGen gnomAD |
|
|
CA394660871 rs1220060913 |
359 | E>A | No |
ClinGen TOPMed |
|
|
CA277160853 rs865807002 |
359 | E>D | No |
ClinGen Ensembl |
|
|
CA7888575 rs770485154 |
359 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888574 rs770485154 |
359 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262191798 CA394660794 |
362 | C>S | No |
ClinGen gnomAD |
|
|
rs562201962 CA7888573 |
363 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7888571 rs548877316 |
364 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7888568 rs758613518 |
365 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7888566 rs778945345 |
368 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs757364210 CA7888565 |
369 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888563 rs556327721 |
370 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239387186 CA394660621 |
370 | H>R | No |
ClinGen TOPMed |
|
|
rs764722220 CA7888562 |
371 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756669461 CA7888560 |
372 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1303028774 CA394660508 |
373 | C>Y | No |
ClinGen gnomAD |
|
|
CA7888559 rs753155332 |
374 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs377424631 CA7888558 |
374 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1478783830 CA394660446 |
375 | E>V | No |
ClinGen TOPMed |
|
|
CA394660438 rs1020261063 |
376 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA277160785 rs1020261063 |
376 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7888525 rs200278802 |
377 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs938636342 CA394660313 |
377 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs938636342 CA277160650 |
377 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1180373815 CA394660268 |
378 | C>* | No |
ClinGen gnomAD |
|
|
CA394660263 rs555347487 |
379 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755414542 CA7888523 |
379 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888524 rs555347487 |
379 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1267815749 CA394660213 |
380 | C>* | No |
ClinGen TOPMed |
|
|
rs751991891 CA7888522 |
380 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA394660190 rs1489949380 |
381 | D>V | No |
ClinGen gnomAD |
|
|
CA7888521 rs780275663 |
382 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394660164 rs1216809556 |
382 | A>V | No |
ClinGen gnomAD |
|
|
rs764803464 CA7888518 CA394660154 |
383 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1567138710 CA394660143 |
383 | G>V | No |
ClinGen Ensembl |
|
|
rs1331587277 CA394660126 |
384 | W>S | No |
ClinGen gnomAD |
|
|
rs111884194 CA277160615 CA7888516 |
386 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888515 rs764144155 |
387 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA394660040 rs1156873496 |
389 | C>F | No |
ClinGen gnomAD |
|
|
CA394660027 rs1260140603 |
390 | S>N | No |
ClinGen gnomAD |
|
|
CA7888513 rs775425183 |
391 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775425183 CA277160610 |
391 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888492 rs558660685 |
392 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888491 rs759423496 |
393 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7888490 rs137984721 |
394 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA277160151 rs924915988 |
394 | P>S | No |
ClinGen TOPMed |
|
|
rs1164703541 CA394659797 |
396 | G>V | No |
ClinGen gnomAD |
|
|
rs770177369 CA7888489 |
397 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA394659768 rs1369820023 |
399 | G>V | No |
ClinGen TOPMed |
|
|
CA394659776 rs1475662432 |
399 | G>W | No |
ClinGen gnomAD |
|
|
CA7888488 rs762120588 |
400 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1384124258 CA394659767 |
400 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141084182 CA277160130 |
403 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394659637 rs747044010 |
405 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888485 rs747044010 |
405 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263009249 CA394659587 |
407 | K>N | No |
ClinGen gnomAD |
|
|
rs371454907 CA7888483 |
409 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7888480 rs779219438 |
410 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1478799245 CA394659507 |
410 | H>Y | No |
ClinGen TOPMed |
|
|
CA7888479 rs748882290 |
412 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs748882290 CA7888478 |
412 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394659445 rs1299303448 |
413 | P>S | No |
ClinGen gnomAD |
|
|
CA7888477 rs777429782 |
414 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs147782887 CA7888476 |
415 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7888475 rs147782887 |
415 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7888474 rs767607280 |
417 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277160071 rs917427201 |
420 | N>T | No |
ClinGen TOPMed |
|
|
rs367664804 CA7888473 |
422 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941013263 CA277160065 |
422 | S>N | No |
ClinGen Ensembl |
|
|
CA394659184 rs182496699 CA277160062 |
422 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394659170 rs1408051020 |
423 | V>D | No |
ClinGen gnomAD |
|
|
CA7888471 rs766274695 |
423 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007250050 CA277159936 |
428 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140556827 CA7888442 |
430 | L>F | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA7888441 rs773607591 |
430 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7888440 rs769393414 |
432 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 434 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394658821 rs1596660246 |
436 | T>I | No |
ClinGen Ensembl |
|
|
rs747836077 CA7888439 |
437 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2834400 rs145106222 CA7888438 |
439 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149923128 CA7888436 |
440 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780172733 CA7888435 |
441 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs758325483 CA7888434 |
441 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394658744 rs1428855059 |
442 | L>R | No |
ClinGen gnomAD |
|
|
rs377590925 CA277159865 |
443 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7888433 rs750233095 |
443 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394658736 rs377590925 |
443 | S>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs778755630 CA7888432 |
445 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA394658683 rs1244763579 |
446 | T>S | No |
ClinGen TOPMed |
|
|
rs1204900882 CA394658665 |
447 | R>G | No |
ClinGen gnomAD |
|
|
rs763888231 CA7888402 |
448 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs199604440 CA7888399 COSM971306 |
449 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1194471872 CA394657595 |
449 | A>V | No |
ClinGen gnomAD |
|
|
rs930381835 CA277158992 |
450 | W>C | No |
ClinGen TOPMed |
|
|
rs562776103 CA7888396 |
454 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394657496 rs1596658390 |
454 | T>P | No |
ClinGen Ensembl |
|
|
rs755264468 CA394657454 |
456 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs755264468 CA7888393 |
456 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7888392 rs747239903 |
456 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139147456 CA7888389 |
458 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7888390 rs139147456 |
458 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277158948 rs139147456 |
458 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754312261 CA7888386 |
459 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs375029008 CA7888387 |
459 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394657382 rs1454338554 |
460 | L>F | No |
ClinGen gnomAD |
|
|
rs1270040157 CA394657350 |
462 | L>P | No |
ClinGen gnomAD |
|
|
CA7888383 rs775220178 |
463 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA394657313 rs1449488745 |
465 | T>A | No |
ClinGen gnomAD |
|
|
rs7188856 RCV000246175 VAR_020609 CA7888381 |
465 | T>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394657289 rs1205240831 |
466 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868853879 CA277158888 |
467 | A>T | No |
ClinGen Ensembl |
|
|
CA277158886 rs954358100 |
468 | N>K | No |
ClinGen TOPMed |
|
|
CA7888379 rs371500762 |
471 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277158866 rs770917515 |
472 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888378 rs770917515 |
472 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749224030 CA7888377 |
473 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1329596056 CA394657218 |
473 | L>Q | No |
ClinGen gnomAD |
|
|
CA394657215 rs1329596056 |
473 | L>R | No |
ClinGen gnomAD |
|
|
CA7888375 rs769593651 |
474 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769593651 CA394657205 |
474 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888374 rs747849814 |
475 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394657199 rs747849814 |
475 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888373 rs780357619 |
477 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554516095 CA7888370 |
480 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540357354 CA7888371 |
480 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477223730 CA394657145 |
481 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7888369 rs200811972 |
481 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144337301 CA277158818 |
483 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7888365 rs144337301 |
483 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756567115 CA7888366 |
483 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1205529401 CA394657128 |
484 | G>E | No |
ClinGen gnomAD |
|
|
rs1567137284 CA394657131 |
484 | G>R | No |
ClinGen Ensembl |
|
|
CA7888364 rs181069423 |
486 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394657113 rs1295029704 |
486 | Y>N | No |
ClinGen TOPMed |
|
|
CA7888362 rs751151251 |
488 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394657073 rs1272203529 |
489 | H>R | No |
ClinGen gnomAD |
|
|
rs762393819 CA7888360 |
490 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762393819 CA394657062 |
490 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765882782 CA7888361 |
490 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765882782 CA394657067 |
490 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394657058 rs1454598332 |
491 | L>V | No |
ClinGen gnomAD |
|
|
CA394657049 rs1407516561 |
492 | Q>* | No |
ClinGen gnomAD |
|
|
CA7888358 rs769681299 |
492 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394657037 rs761710720 |
493 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888357 rs761710720 |
493 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776268330 CA7888356 |
494 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1006304418 CA277158773 |
495 | N>H | No |
ClinGen Ensembl |
|
|
rs887854 CA394656998 |
495 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746072004 CA7888354 |
496 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394656974 rs1461324630 |
497 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394656978 rs1184933718 |
497 | E>K | No |
ClinGen gnomAD |
|
|
CA7888353 rs558666958 |
498 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM269688 rs141568446 CA7888349 |
501 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201559606 COSM3818067 CA277158739 |
502 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA7888348 rs781409192 |
503 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888347 rs781409192 |
503 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456025675 CA394656870 |
504 | E>K | No |
ClinGen TOPMed |
|
|
CA394656846 rs200663126 |
505 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7888344 rs765970629 COSM2151499 |
505 | Q>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7888346 rs200663126 COSM2151500 |
505 | Q>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM2151501 rs751228440 CA394656841 |
505 | Q>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7888345 rs751228440 |
505 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA7888343 rs762483430 |
508 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1378265 CA7888341 rs765209071 |
509 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761644062 CA7888340 |
509 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768340623 CA7888338 |
510 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444776482 CA394656756 |
511 | N>Y | No |
ClinGen gnomAD |
|
|
rs774734976 CA7888336 |
512 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7888335 rs771235861 |
512 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1257503391 CA394656731 |
513 | F>L | No |
ClinGen TOPMed |
|
|
rs555935043 CA7888332 |
515 | D>Y | No |
ClinGen 1000Genomes TOPMed |
1 associated diseases with Q9UK23
Without disease ID
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.45 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity | Catalysis of the reaction: glycoprotein N-acetyl-D-glucosaminyl-phospho-D-mannose + H2O = N-acetyl-D-glucosamine + glycoprotein phospho-D-mannose. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
| 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 modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
| protein targeting to lysosome | The process of directing proteins towards the lysosome using signals contained within the protein. |
| secretion of lysosomal enzymes | The controlled release of lysosomal enzymes by a cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATSTGRWLL | LRLALFGFLW | EASGGLDSGA | SRDDDLLLPY | PRARARLPRD | CTRVRAGNRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HESWPPPPAT | PGAGGLAVRT | FVSHFRDRAV | AGHLTRAVEP | LRTFSVLEPG | GPGGCAARRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATVEETARAA | DCRVAQNGGF | FRMNSGECLG | NVVSDERRVS | SSGGLQNAQF | GIRRDGTLVT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GYLSEEEVLD | TENPFVQLLS | GVVWLIRNGS | IYINESQATE | CDETQETGSF | SKFVNVISAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TAIGHDRKGQ | LVLFHADGQT | EQRGINLWEM | AEFLLKQDVV | NAINLDGGGS | ATFVLNGTLA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SYPSDHCQDN | MWRCPRQVST | VVCVHEPRCQ | PPDCHGHGTC | VDGHCQCTGH | FWRGPGCDEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DCGPSNCSQH | GLCTETGCRC | DAGWTGSNCS | EECPLGWHGP | GCQRPCKCEH | HCPCDPKTGN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSVSRVKQCL | QPPEATLRAG | ELSFFTRTAW | LALTLALAFL | LLISTAANLS | LLLSRAERNR |
| 490 | 500 | 510 | |||
| RLHGDYAYHP | LQEMNGEPLA | AEKEQPGGAH | NPFKD |