Q05329
PR
Gene name |
GAD2 |
Protein name |
Glutamate decarboxylase 2 |
Names |
65 kDa glutamic acid decarboxylase, GAD-65, Glutamate decarboxylase 65 kDa isoform |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2572 |
EC number |
4.1.1.15: Carboxy-lyases |
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
3 structures for Q05329
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ES0 | X-ray | 260 A | B | 207-220 | PDB |
| 2OKK | X-ray | 230 A | A | 88-584 | PDB |
| AF-Q05329-F1 | Predicted | AlphaFoldDB |
463 variants for Q05329
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA376343715 rs1460668960 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA204387502 rs968431583 |
2 | A>V | No |
ClinGen Ensembl |
|
|
rs1357128684 CA376343727 |
4 | P>A | No |
ClinGen gnomAD |
|
|
rs751813351 CA5445644 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs866237592 CA204387503 |
5 | G>S | No |
ClinGen Ensembl |
|
|
rs1334270030 CA376343741 |
6 | S>F | No |
ClinGen gnomAD |
|
|
CA376343739 rs1334270030 |
6 | S>Y | No |
ClinGen gnomAD |
|
|
rs201691653 CA5445648 |
9 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867005104 CA204387504 |
9 | W>R | No |
ClinGen Ensembl |
|
|
VAR_018821 rs8190591 CA5445650 |
12 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5445652 rs779802271 |
14 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5445653 rs532313935 |
15 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768502950 CA5445654 |
16 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776361193 COSM1347377 CA5445655 |
18 | G>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5445656 rs761800765 |
19 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs769669694 CA5445657 |
20 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs148577863 CA376343835 |
21 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769872988 CA5445658 |
21 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs766470128 CA5445661 |
24 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766470128 CA5445660 |
24 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 26 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 26 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs990840170 CA204387582 |
26 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 27 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA204387583 rs958697752 |
28 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1158975599 CA376343903 |
30 | C>* | No |
ClinGen gnomAD |
|
|
rs774469841 CA5445682 |
32 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs992710798 CA204387584 |
34 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5445684 rs767671941 |
34 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA376343935 rs1321151133 |
35 | K>R | No |
ClinGen gnomAD |
|
|
CA5445685 rs775807612 |
36 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA376343949 rs1429001547 |
37 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1327631130 CA376343954 |
38 | G>D | No |
ClinGen gnomAD |
|
|
rs1279360536 CA376343951 |
38 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA376343964 rs1589135185 |
40 | I>L | No |
ClinGen Ensembl |
|
|
CA5445687 rs764530401 |
41 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA204387585 rs375835846 |
42 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5445689 rs369367874 |
42 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5445688 rs754328283 |
42 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754328283 CA204387586 |
42 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765976449 CA5445690 COSM683571 |
45 | C>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA376343994 rs1311212033 |
45 | C>R | No |
ClinGen TOPMed |
|
|
CA204387599 rs750087314 |
46 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5445692 rs754627728 |
46 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5445693 rs754627728 |
46 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA204387600 rs750087314 |
46 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 47 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298501963 CA376344014 |
47 | L>V | No |
ClinGen TOPMed |
|
|
TCGA novel rs374182148 CA5445723 |
50 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA376344040 rs1169275792 |
51 | D>G | No |
ClinGen gnomAD |
|
|
rs762229020 CA5445724 |
51 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5445726 rs773798708 |
52 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752299714 CA5445729 |
55 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5445730 rs760213552 |
55 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1303039205 CA376344069 |
56 | A>T | No |
ClinGen gnomAD |
|
|
rs1564654114 CA376344078 |
57 | E>A | No |
ClinGen Ensembl |
|
|
CA5445734 rs756985033 |
58 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5445732 rs753506834 |
58 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207503880 CA376344091 |
59 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA376344090 rs1207503880 |
59 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773194823 CA5445735 |
60 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773194823 CA376344097 |
60 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779979053 CA5445737 |
61 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA204387602 CA5445738 rs567040121 |
61 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs975547864 CA204387603 |
62 | Q>H | No |
ClinGen Ensembl |
|
|
CA5445739 rs768892863 |
63 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5445740 rs781515916 |
63 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5445741 rs781515916 |
63 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768892863 CA376344114 |
63 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770218244 CA5445742 |
64 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376344116 rs1313726527 |
64 | P>T | No |
ClinGen gnomAD |
|
|
rs1453690175 CA376344121 |
65 | R>G | No |
ClinGen gnomAD |
|
|
CA376344124 rs532766939 |
65 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376344123 rs532766939 |
65 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5445743 rs532766939 |
65 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774750698 CA5445746 |
68 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376344137 rs774750698 |
68 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365808507 CA376344140 |
68 | A>V | No |
ClinGen gnomAD |
|
|
CA5445748 rs552818858 |
69 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA204387606 rs977758912 |
69 | R>W | No |
ClinGen gnomAD |
|
|
rs1227718230 CA376344156 |
70 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs373957704 CA5445751 |
72 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203106878 CA376344236 |
76 | D>E | No |
ClinGen gnomAD |
|
|
rs1251690584 CA376344247 |
77 | Q>H | No |
ClinGen gnomAD |
|
|
rs571663605 CA204387607 |
77 | Q>R | No |
ClinGen gnomAD |
|
|
rs554706175 CA5445753 |
79 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5445754 rs554706175 |
79 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs533984842 CA376344317 |
82 | C>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA5445755 rs766303869 |
82 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs533984842 CA204387609 |
82 | C>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA204387610 rs533984842 |
82 | C>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA376344326 rs1420713888 |
83 | S>P | No |
ClinGen gnomAD |
|
|
CA376344402 rs1374161085 |
87 | V>I | No |
ClinGen TOPMed |
|
|
rs755051252 CA5445757 |
88 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1040046985 CA204387611 |
88 | N>S | No |
ClinGen Ensembl |
|
|
CA376344439 rs1195701712 |
89 | Y>C | No |
ClinGen TOPMed |
|
|
CA5445758 rs201987095 |
90 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5445759 rs748378088 |
90 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376344469 rs1564654220 |
91 | F>Y | No |
ClinGen Ensembl |
|
|
CA376344508 rs1357321101 |
93 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1233309313 CA376344516 |
93 | H>Q | No |
ClinGen gnomAD |
|
|
CA376344510 rs1357321101 |
93 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777967730 CA5445761 |
94 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs930220372 CA204387613 |
95 | T>A | No |
ClinGen Ensembl |
|
|
rs866435325 CA204387772 |
96 | D>E | No |
ClinGen Ensembl |
|
|
rs1391525380 CA376345141 |
99 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376345157 rs1414884545 |
100 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA376345156 rs1414884545 |
100 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1175243832 CA376345172 |
101 | C>R | No |
ClinGen gnomAD |
|
|
CA5445789 rs139888003 |
102 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5445790 rs770759157 |
105 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1363939020 CA376345226 |
105 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA376345233 rs1432458479 CA376345231 |
105 | R>S | No |
ClinGen gnomAD |
|
|
rs774348551 CA376345236 |
106 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774348551 CA5445791 |
106 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759513504 CA376345256 |
108 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5445793 rs767519463 |
112 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5445794 rs752701261 |
113 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs577703778 CA5445795 |
115 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1265720771 CA376345341 |
115 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5445796 rs144305290 |
116 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA204387773 rs756854227 |
117 | I>T | No |
ClinGen Ensembl |
|
|
CA376345375 rs1314652429 |
117 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 118 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5445799 rs375194565 |
122 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228879530 CA376345413 |
122 | V>M | No |
ClinGen TOPMed |
|
|
CA5445800 rs369441795 |
123 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376345418 rs369441795 |
123 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_018822 rs8190600 CA5445801 |
124 | K>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1391709227 CA376345426 |
124 | K>T | No |
ClinGen TOPMed |
|
|
rs376925031 CA5445802 |
126 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769286336 CA5445804 |
127 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs747528687 CA5445803 |
127 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs747528687 CA376345445 |
127 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs562894920 CA5445805 |
129 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs748959145 CA5445807 |
132 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5445806 rs748959145 |
132 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774176087 CA5445808 |
133 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376345491 rs1236664453 |
134 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 137 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198578113 CA376345527 |
139 | N>H | No |
ClinGen TOPMed |
|
|
rs759352300 CA5445809 |
139 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1224821241 CA376345548 |
142 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268113047 CA376345557 |
143 | Q>R | No |
ClinGen gnomAD |
|
|
rs772002515 CA5445810 |
144 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA376345562 rs1215678092 |
144 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376345567 rs1434166489 |
145 | Y>N | No |
ClinGen TOPMed |
|
|
rs147809083 CA5445811 |
147 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 148 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267570341 CA376345597 |
148 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451275808 CA376345606 |
150 | A>T | No |
ClinGen gnomAD |
|
|
CA376345632 rs2839672 |
153 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000963465 CA5445812 VAR_029176 rs2839672 |
153 | P>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764219976 CA5445813 |
154 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs753912290 CA5445814 |
157 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411219792 CA376345655 |
157 | E>K | No |
ClinGen gnomAD |
|
|
rs765338722 CA5445816 |
158 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA376345688 rs1564654683 |
161 | M>I | No |
ClinGen Ensembl |
|
|
rs750667725 CA5445817 |
161 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1321248789 CA376345695 |
162 | H>L | No |
ClinGen gnomAD |
|
|
rs758705662 CA5445818 |
164 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA204387775 rs143027293 |
165 | T>A | No |
ClinGen Ensembl |
|
|
CA204387776 rs182248090 COSM917320 |
170 | A>E | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
CA376345747 rs1266874480 |
170 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1284870040 CA376345752 |
171 | I>V | No |
ClinGen gnomAD |
|
|
CA204388352 rs984510156 |
174 | G>E | No |
ClinGen TOPMed |
|
|
rs1173651278 CA376346822 |
177 | R>G | No |
ClinGen gnomAD |
|
|
rs1296507492 CA376346848 |
178 | Y>H | No |
ClinGen TOPMed |
|
|
CA5445846 rs745501249 |
179 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5445847 rs568262065 |
180 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376346926 rs1366113164 |
184 | T>A | No |
ClinGen gnomAD |
|
|
CA5445849 rs746740047 |
186 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5445851 rs776375840 |
188 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs533729819 CA5445850 |
188 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5445853 rs375300049 |
189 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5445852 rs748122759 |
189 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 190 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376347118 rs1198171592 |
192 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 193 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376347196 rs1467175955 |
195 | W>C | No |
ClinGen gnomAD |
|
|
rs763143772 CA376347211 |
197 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs763143772 CA5445855 |
197 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs774652278 CA5445857 |
199 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759757632 CA5445858 |
202 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5445876 rs61735922 |
204 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs553646520 CA5445859 CA376347331 |
204 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553646520 CA376347328 |
204 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376347466 rs771522366 COSM1745760 |
207 | Y>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs771522366 CA204388415 |
207 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 213 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203283639 CA376347600 |
215 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5445878 rs772307886 |
216 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983037497 CA204388417 |
218 | Y>H | No |
ClinGen Ensembl |
|
|
rs77034511 CA5445879 |
219 | V>D | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 225 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761233439 CA5445881 |
226 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761233439 CA5445880 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376347794 rs1199121907 |
227 | I>V | No |
ClinGen gnomAD |
|
|
RCV000950747 CA5445884 rs143186590 |
228 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs762496645 CA5445883 |
228 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376347827 rs1276993275 |
229 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376347824 rs1276993275 |
229 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2839673 RCV000954450 CA5445886 VAR_029177 |
232 | G>E | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5445887 rs780831426 |
233 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs540733500 CA5445889 |
233 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5445888 rs540733500 |
233 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746055295 CA5445894 |
236 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5445893 rs779103489 |
236 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75991938 CA204388419 |
238 | I>L | No |
ClinGen Ensembl |
|
|
rs950190434 CA204388420 |
238 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs75991938 CA204388418 |
238 | I>V | No |
ClinGen Ensembl |
|
|
CA204388421 rs867414134 |
240 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 240 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376348890 rs1376448340 |
242 | G>D | No |
ClinGen gnomAD |
|
|
CA376347992 rs1366988930 |
242 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 243 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 243 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372039859 CA376348937 |
244 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372039859 CA5445912 |
244 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281281237 CA376348961 |
245 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209422137 CA376349108 |
251 | M>I | No |
ClinGen gnomAD |
|
|
rs201461179 CA5445913 |
251 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758427958 CA5445916 |
254 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758427958 CA5445915 |
254 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747241251 CA5445917 |
255 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376349142 rs747241251 |
255 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448598250 CA376349162 |
257 | K>E | No |
ClinGen gnomAD |
|
|
CA204388993 rs981208590 |
258 | M>I | No |
ClinGen TOPMed |
|
|
CA376349175 rs1189585091 |
258 | M>V | No |
ClinGen TOPMed |
|
|
rs1589138178 CA376349226 |
262 | V>I | No |
ClinGen Ensembl |
|
|
CA376349238 rs1414985700 |
264 | E>K | No |
ClinGen gnomAD |
|
|
rs748643830 CA5445920 |
264 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5445921 rs770376976 |
265 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs52834041 RCV000885394 CA5445922 |
269 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 269 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150392847 CA5445926 |
272 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1055520852 CA204388994 |
272 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5445925 rs150392847 |
272 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376349302 rs1308072499 |
274 | I>V | No |
ClinGen TOPMed |
|
|
CA5445928 rs753672041 |
277 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376350198 rs1244885241 |
281 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376350238 rs1295046935 |
284 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_018823 CA204390906 rs8190671 |
286 | K>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA5445968 rs746471874 |
287 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs768167687 CA5445969 |
288 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5445970 rs776279642 |
291 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360083988 CA376350344 |
294 | I>F | No |
ClinGen TOPMed |
|
|
CA5445971 rs138151086 |
294 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376350363 rs1421524768 |
296 | T>A | No |
ClinGen TOPMed |
|
|
CA5445972 rs769617908 |
296 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA204390908 rs769617908 |
296 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA204390907 rs769617908 |
296 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189058925 CA376350385 |
298 | S>G | No |
ClinGen gnomAD |
|
|
rs772931919 CA5445973 |
298 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA376350394 rs1161349496 |
299 | V>M | No |
ClinGen gnomAD |
|
|
rs1269966305 CA376350447 |
303 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5445975 rs766382843 |
304 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA376350463 rs1430846922 |
305 | D>N | No |
ClinGen gnomAD |
|
|
rs1294603687 CA376338222 |
310 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 310 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362262248 CA376338233 |
311 | I>N | No |
ClinGen TOPMed |
|
|
CA5445998 rs144416490 |
313 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754102539 CA5445999 |
314 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA204396825 rs754102539 |
314 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs184183531 CA5446003 |
321 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1269582963 CA376338399 |
325 | K>R | No |
ClinGen gnomAD |
|
|
CA204396984 rs2839678 VAR_029178 |
326 | G>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs758795744 CA5446022 |
327 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766748892 CA5446023 |
328 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1489656438 CA376338953 |
329 | P>L | No |
ClinGen gnomAD |
|
|
rs1258625807 CA376338947 |
329 | P>S | No |
ClinGen gnomAD |
|
|
CA5446025 rs182756899 |
332 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 334 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757006706 CA5446028 |
340 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA204396986 rs879362882 |
343 | A>G | No |
ClinGen Ensembl |
|
|
CA376339170 rs1157168097 |
343 | A>T | No |
ClinGen gnomAD |
|
|
CA5446030 rs745607268 |
344 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775222691 CA376339238 |
346 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775222691 CA5446032 |
346 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147373152 CA5446031 |
346 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5446033 rs747034092 |
347 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5446034 rs768604380 |
351 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 354 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA204396988 rs868738021 |
355 | K>N | No |
ClinGen Ensembl |
|
|
rs1238881524 CA376339414 |
355 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs113242575 CA204396989 |
356 | K>E | No |
ClinGen Ensembl |
|
|
CA5446036 rs761992421 |
357 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376339482 rs1350529387 |
357 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1232927880 COSM1505226 CA376339500 |
358 | K>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1589149407 CA376339583 |
360 | W>G | No |
ClinGen Ensembl |
|
|
CA204396990 rs571776261 |
363 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 366 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564668235 CA376340729 |
369 | G>E | No |
ClinGen Ensembl |
|
|
rs1289575575 CA376340723 |
369 | G>R | No |
ClinGen gnomAD |
|
|
rs878885021 CA204397296 |
370 | G>R | No |
ClinGen Ensembl |
|
|
rs1045840765 CA204397297 |
371 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5446071 rs748084780 |
373 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5446070 rs781051495 |
373 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs897876627 CA204397298 COSM917328 |
375 | R>* | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5446073 rs8190730 |
375 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_018824 CA5446072 rs8190730 |
375 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs189305962 CA5446075 |
382 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376340912 rs1204006170 |
382 | S>R | No |
ClinGen gnomAD |
|
|
rs774455272 CA5446076 |
383 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5446078 rs772567180 |
384 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376340951 rs1209663550 |
385 | E>D | No |
ClinGen gnomAD |
|
|
rs776135250 CA5446079 |
386 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 386 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755948340 CA204398084 |
388 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406817819 CA376342748 |
391 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5446100 rs758930871 |
394 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 396 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376342861 CA376342859 rs1366667416 |
397 | M>I | No |
ClinGen gnomAD |
|
|
rs1239661345 CA376342875 |
398 | M>I | No |
ClinGen TOPMed |
|
|
rs1404877595 CA376342886 |
399 | G>A | No |
ClinGen gnomAD |
|
|
CA204398086 rs576655451 |
403 | Q>* | No |
ClinGen Ensembl |
|
|
CA5446101 rs777027610 |
404 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5446102 rs762468774 |
406 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5446104 rs774051902 |
410 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759246972 CA204398087 |
410 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA5446105 rs759246972 |
410 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs767281811 CA5446106 |
411 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs780366876 CA5446132 |
413 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5446131 rs185111133 |
413 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376343333 rs1564671677 |
416 | Q>E | No |
ClinGen Ensembl |
|
|
rs1405661290 CA376343379 |
419 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266397210 CA376343399 |
420 | Q>H | No |
ClinGen gnomAD |
|
|
CA5446139 rs778287000 |
420 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5446140 rs745321095 |
422 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA204398666 rs749051725 |
423 | A>T | No |
ClinGen Ensembl |
|
|
rs558136235 CA204398667 |
429 | Q>E | No |
ClinGen Ensembl |
|
|
CA5446141 rs771571634 |
429 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 430 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5446142 rs775115743 |
437 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1564671708 CA376343544 |
441 | D>N | No |
ClinGen Ensembl |
|
|
rs1048853529 CA204398670 |
442 | K>R | No |
ClinGen Ensembl |
|
|
rs1589153184 CA376343559 |
443 | A>T | No |
ClinGen Ensembl |
|
|
rs760375732 CA376343586 |
446 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM218270 COSM236743 CA5446144 rs376780859 |
447 | G>R | pancreas prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1263303585 CA376343595 |
448 | R>C | No |
ClinGen gnomAD |
|
|
rs369617935 CA5446145 |
450 | V>I | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1388620304 CA376343615 |
451 | D>G | No |
ClinGen gnomAD |
|
|
rs765035926 CA5446147 |
453 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376344181 rs1402582913 |
464 | T>I | No |
ClinGen gnomAD |
|
|
rs1054381746 CA204399294 |
465 | T>P | No |
ClinGen TOPMed |
|
|
rs764513059 CA5446173 |
465 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1259318388 COSM297993 CA376344254 |
469 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5446176 rs779421004 |
470 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291721733 CA376344295 |
472 | D>G | No |
ClinGen gnomAD |
|
|
rs746462360 CA5446177 |
474 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA376344866 rs1418711112 |
477 | L>V | No |
ClinGen gnomAD |
|
|
rs1050757379 CA204399296 |
478 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1180017852 CA376344877 |
479 | E>K | No |
ClinGen gnomAD |
|
|
rs1187075586 CA376344894 |
481 | L>V | No |
ClinGen TOPMed |
|
|
COSM917330 CA204399298 rs761350624 |
482 | Y>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1040140100 CA204399299 |
483 | N>D | No |
ClinGen Ensembl |
|
|
rs780651528 CA5446179 |
484 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 487 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 487 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1564673119 | 487 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376344943 rs184027366 |
488 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1485837054 CA376344956 |
490 | G>R | No |
ClinGen TOPMed |
|
|
CA204399301 rs993166149 |
490 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376344983 rs1364914782 |
493 | M>I | No |
ClinGen gnomAD |
|
|
rs1564673128 CA376344981 |
493 | M>T | No |
ClinGen Ensembl |
|
|
CA376344995 rs1307034080 |
495 | F>C | No |
ClinGen TOPMed |
|
|
CA5446182 rs375743827 |
496 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381133992 CA376345042 |
500 | Q>P | No |
ClinGen gnomAD |
|
|
rs1381133992 CA376345043 |
500 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376345057 rs1317838900 |
502 | T>S | No |
ClinGen TOPMed |
|
|
CA204399339 rs751886371 |
504 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1461947257 CA376345074 |
505 | C>R | No |
ClinGen gnomAD |
|
|
rs1014503957 CA376345086 |
506 | F>C | No |
ClinGen gnomAD |
|
|
CA204399340 rs1014503957 |
506 | F>S | No |
ClinGen gnomAD |
|
|
rs150583361 CA5446198 |
507 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 508 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376345109 rs1482175569 |
509 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376345116 rs1452860008 |
509 | I>T | No |
ClinGen TOPMed |
|
|
rs1482175569 CA376345111 |
509 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 510 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 512 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262383631 CA376345167 |
513 | L>W | No |
ClinGen gnomAD |
|
|
COSM1238956 CA204399341 rs1024460607 |
514 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs777588143 CA5446200 |
514 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA376345180 rs777588143 |
514 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA376345179 rs777588143 |
514 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 515 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967504625 CA204399342 |
518 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 521 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5446204 rs745888753 |
521 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs531350793 CA5446203 |
521 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377565192 CA5446205 |
522 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA204399343 CA5446207 rs760768178 |
523 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775690793 CA5446206 |
523 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5446208 rs534607306 |
524 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762107590 CA5446211 |
525 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376345332 COSM184177 rs1223100093 |
525 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5446210 rs762107590 |
525 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5446212 rs149742560 |
527 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5446232 rs766866002 |
529 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5446233 rs774998726 |
530 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs372117780 CA5446235 |
532 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112735861 CA204400193 |
536 | R>K | No |
ClinGen Ensembl |
|
|
CA5446237 rs756985845 |
540 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA376347152 rs1165966398 CA376347156 |
544 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs561824482 CA5446239 |
544 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263175014 CA376347160 |
545 | V>I | No |
ClinGen TOPMed |
|
|
CA204400195 rs750256807 |
548 | Q>E | No |
ClinGen TOPMed |
|
|
rs1485293869 CA376347273 |
550 | L>S | No |
ClinGen TOPMed |
|
|
CA204400196 rs145658372 |
551 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5446241 rs145658372 |
551 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201538283 CA5446242 |
552 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443166312 CA376347327 |
553 | K>N | No |
ClinGen gnomAD |
|
|
rs781288492 CA5446244 |
555 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA204400197 rs200401161 |
558 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5446245 rs748346267 |
558 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5446246 rs770007139 |
559 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs112179465 CA204400198 |
561 | I>T | No |
ClinGen Ensembl |
|
|
rs773335168 CA5446247 |
561 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749596408 CA5446248 |
563 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs140328709 CA5446249 |
564 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376347478 rs1311625272 |
564 | P>T | No |
ClinGen gnomAD |
|
|
CA376347536 rs1231976023 |
567 | T>A | No |
ClinGen gnomAD |
|
|
CA204400199 rs201622819 |
568 | H>Q | No |
ClinGen gnomAD |
|
|
CA376347551 rs1456686894 |
568 | H>Y | No |
ClinGen gnomAD |
|
|
rs1386313996 CA376347567 |
569 | Q>* | No |
ClinGen gnomAD |
|
|
rs1444558033 CA376347577 |
569 | Q>R | No |
ClinGen gnomAD |
|
|
rs1589156742 CA376347612 |
571 | I>L | No |
ClinGen Ensembl |
|
|
CA204400200 rs375149379 |
571 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs1414851335 CA376347708 |
575 | I>M | No |
ClinGen Ensembl |
|
|
rs145419731 CA5446252 |
575 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328392915 CA376347711 |
576 | E>K | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5446253 rs776234244 |
578 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 579 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM427417 rs564481006 CA5446254 |
580 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA376347795 rs1166999159 |
580 | R>H | No |
ClinGen TOPMed |
|
|
rs1475511495 CA376347821 |
581 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 582 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA204400201 rs914739142 |
582 | G>V | No |
ClinGen Ensembl |
|
|
rs1243932259 CA376347836 |
583 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376347844 rs1374348922 |
583 | Q>R | No |
ClinGen TOPMed |
|
|
rs1282403132 CA376347871 |
584 | D>V | No |
ClinGen gnomAD |
|
|
CA5446256 rs760920201 |
586 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q05329
1 regional properties for Q05329
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | Pyridoxal-phosphate binding site | 389 - 410 | IPR021115 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.1.1.15 | Carboxy-lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchored component of membrane | The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane | The lipid bilayer surrounding a clathrin-sculpted gamma-aminobutyric acid transport vesicle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| inhibitory synapse | A synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| carboxy-lyase activity | Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. |
| glutamate binding | Binding to glutamate, the anion of 2-aminopentanedioic acid. |
| glutamate decarboxylase activity | Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| pyridoxal phosphate binding | Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| gamma-aminobutyric acid biosynthetic process | The chemical reactions and pathways resulting in the formation of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. |
| glutamate decarboxylation to succinate | The chemical reactions and pathways resulting in the formation of succinate from glutamate. Also known as GABA (gamma-aminobutyrate) shunt since it channels glutamate into the TCA cycle bypassing two steps of that cycle. There are three enzymes involved in the GABA shunt: glutamate decarboxylase (GAD), GABA aminotransferase (GABA-TA), and succinate semialdehyde dehydrogenase (SSADH). These three enzymes acting in concert to convert glutamate into succinate. The GABA shunt is predominantly associated with neurotransmission in the mammalian brain. It is also present in nonneuronal cells, in plants, in unicellular eukaryotes, and in prokaryotes. |
| neurotransmitter biosynthetic process | The chemical reactions and pathways resulting in the formation of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QM00 | GADL1 | Acidic amino acid decarboxylase GADL1 | Bos taurus (Bovine) | PR |
| Q6ZQY3 | GADL1 | Acidic amino acid decarboxylase GADL1 | Homo sapiens (Human) | PR |
| Q80WP8 | Gadl1 | Acidic amino acid decarboxylase GADL1 | Mus musculus (Mouse) | PR |
| Q6ESZ9 | SDC1 | Serine decarboxylase 1 | Oryza sativa subsp japonica (Rice) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASPGSGFWS | FGSEDGSGDS | ENPGTARAWC | QVAQKFTGGI | GNKLCALLYG | DAEKPAESGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQPPRAAARK | AACACDQKPC | SCSKVDVNYA | FLHATDLLPA | CDGERPTLAF | LQDVMNILLQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YVVKSFDRST | KVIDFHYPNE | LLQEYNWELA | DQPQNLEEIL | MHCQTTLKYA | IKTGHPRYFN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLSTGLDMVG | LAADWLTSTA | NTNMFTYEIA | PVFVLLEYVT | LKKMREIIGW | PGGSGDGIFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGGAISNMYA | MMIARFKMFP | EVKEKGMAAL | PRLIAFTSEH | SHFSLKKGAA | ALGIGTDSVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LIKCDERGKM | IPSDLERRIL | EAKQKGFVPF | LVSATAGTTV | YGAFDPLLAV | ADICKKYKIW |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MHVDAAWGGG | LLMSRKHKWK | LSGVERANSV | TWNPHKMMGV | PLQCSALLVR | EEGLMQNCNQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MHASYLFQQD | KHYDLSYDTG | DKALQCGRHV | DVFKLWLMWR | AKGTTGFEAH | VDKCLELAEY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LYNIIKNREG | YEMVFDGKPQ | HTNVCFWYIP | PSLRTLEDNE | ERMSRLSKVA | PVIKARMMEY |
| 550 | 560 | 570 | 580 | ||
| GTTMVSYQPL | GDKVNFFRMV | ISNPAATHQD | IDFLIEEIER | LGQDL |