Q8N6M5
PR
Gene name |
ALLC |
Protein name |
Probable inactive allantoicase |
Names |
Allantoate amidinohydrolase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55821 |
EC number |
|
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 Q8N6M5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N6M5-F1 | Predicted | AlphaFoldDB |
366 variants for Q8N6M5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_080299 | 1 | M>MADAPKEGRLTRFLDFTQLM | No | UniProt | |
|
CA41553954 rs964617242 |
2 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345744042 rs1260508710 |
2 | D>V | No |
ClinGen gnomAD |
|
|
rs1488977759 CA345744045 |
3 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767685543 CA1517214 |
3 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345744057 rs753814303 |
4 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517215 rs753814303 |
4 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345744076 rs1183049932 |
7 | S>F | No |
ClinGen gnomAD |
|
|
rs369154044 CA1517216 |
7 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158623343 CA345744080 |
8 | V>A | No |
ClinGen gnomAD |
|
|
CA1517218 rs745607491 |
8 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517219 rs758297888 |
9 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867754274 CA345744089 |
10 | G>A | No |
ClinGen Ensembl |
|
|
rs867754274 CA41553997 |
10 | G>E | No |
ClinGen Ensembl |
|
|
rs866663518 CA41553984 |
10 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1517235 rs767637180 |
13 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948571689 CA41555812 |
16 | T>I | No |
ClinGen TOPMed |
|
|
CA1517236 rs752766702 |
18 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345744520 rs1229808724 |
21 | A>V | No |
ClinGen gnomAD |
|
|
CA1517237 rs760858955 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345744538 rs1256608749 |
24 | E>G | No |
ClinGen gnomAD |
|
|
rs1338701221 CA345744562 |
27 | I>M | No |
ClinGen TOPMed |
|
|
CA345744560 rs1484376232 |
27 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 31 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772288129 CA1517253 |
31 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA345744726 rs540280415 |
32 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA345744725 rs540280415 |
32 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1517254 rs540280415 |
32 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA41558725 rs1025159887 |
32 | P>S | No |
ClinGen gnomAD |
|
|
rs1025159887 CA345744724 |
32 | P>T | No |
ClinGen gnomAD |
|
|
rs764315712 CA1517256 |
33 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016700093 CA41558731 |
33 | C>Y | No |
ClinGen Ensembl |
|
|
rs750368846 CA1517257 |
35 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA41558740 rs1025449842 |
36 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1517259 rs115017990 |
37 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345744758 rs115017990 |
37 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1230421701 CA345744762 |
38 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1230421701 CA345744764 |
38 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs754755079 CA1517261 |
40 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780785555 CA1517262 |
40 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345744794 rs1487449621 |
42 | F>Y | No |
ClinGen gnomAD |
|
|
rs1198089592 CA345744798 |
43 | G>R | No |
ClinGen gnomAD |
|
|
rs371999138 CA1517264 COSM575153 COSM178779 |
45 | W>* | lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
rs368293033 CA1517263 |
45 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1473369725 CA345744823 |
46 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345744839 rs1156424072 |
48 | G>V | No |
ClinGen gnomAD |
|
|
CA345744845 rs1400558323 |
49 | W>* | No |
ClinGen gnomAD |
|
|
rs1405023689 CA345744843 |
49 | W>R | No |
ClinGen TOPMed |
|
|
CA41558793 rs375401460 |
50 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1517265 rs777323507 |
50 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs200158588 CA1517266 |
55 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771411217 CA1517267 |
55 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA41558821 rs1042728721 |
56 | I>T | No |
ClinGen Ensembl |
|
|
rs374848881 CA41558825 |
57 | P>A | No |
ClinGen ESP gnomAD |
|
|
rs374089815 CA1517290 |
60 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1170761286 CA345744940 |
61 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA41559624 rs966685449 |
62 | C>R | No |
ClinGen Ensembl |
|
|
CA345744946 rs1405182050 |
62 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3714198 rs1487831360 CA345744967 |
65 | R>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1391372455 CA345744965 |
65 | R>T | No |
ClinGen gnomAD |
|
|
CA345744980 rs774325359 |
68 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1517294 rs774325359 |
68 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517296 rs531961261 |
69 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760484262 CA1517298 |
73 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1517297 rs199666164 |
73 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763696982 CA1517299 |
74 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763696982 CA345745015 |
74 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517301 COSM273948 rs756768853 |
76 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750935372 CA345745035 |
77 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs750935372 CA1517303 COSM1531983 |
77 | V>M | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1276153447 CA345745048 COSM2151595 |
79 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs201007073 CA1517305 |
80 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345745060 rs1392267368 |
81 | Y>H | No |
ClinGen TOPMed |
|
|
rs751926903 CA1517306 |
82 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs755429246 CA1517307 COSM175386 |
83 | T>M | kidney large_intestine Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748371195 CA1517309 |
84 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345745083 rs1558540818 |
84 | G>V | No |
ClinGen Ensembl |
|
|
rs146334151 CA1517311 |
86 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1517312 COSM1020664 rs370511953 |
87 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs373944032 CA1517313 |
87 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345745107 rs1469432017 |
88 | P>L | No |
ClinGen gnomAD |
|
|
rs368168436 CA1517315 |
88 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1407939 CA1517317 rs200659457 |
89 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 89 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517318 rs761437342 |
89 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 89 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517319 rs764944232 |
90 | V>M | No |
ClinGen ExAC |
|
|
rs995159296 CA41559730 |
92 | I>V | No |
ClinGen TOPMed |
|
|
rs374153308 CA1517320 |
95 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345745172 rs1280789169 |
99 | E>* | No |
ClinGen TOPMed gnomAD |
|
| rs768076246 | 100 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161651523 CA345745192 |
100 | D>G | No |
ClinGen gnomAD |
|
|
CA41559752 rs995080292 |
100 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345745179 rs995080292 |
100 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1517344 rs200078976 |
101 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1309305070 CA345745198 |
101 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345745208 rs1390393822 |
103 | P>T | No |
ClinGen gnomAD |
|
|
CA345745216 rs1306777295 |
104 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756524787 CA1517345 |
106 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764191645 CA1517346 |
108 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1359340478 CA345745247 |
108 | R>S | No |
ClinGen gnomAD |
|
|
rs183345834 CA1517347 |
109 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1517348 rs13426642 |
110 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs13426642 CA345745256 |
110 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs13426642 CA345745257 |
110 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1517351 rs530100192 |
111 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 113 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517352 rs781208470 |
115 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1006898798 CA41560727 |
115 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747853817 CA1517353 |
117 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA41560744 rs866173927 |
118 | P>S | No |
ClinGen Ensembl |
|
|
rs1169943746 CA345745512 |
119 | E>D | No |
ClinGen gnomAD |
|
|
rs1449944076 CA345745506 |
119 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA345745517 rs1572519563 |
120 | E>A | No |
ClinGen Ensembl |
|
|
rs142054647 CA1517354 |
121 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345745540 rs1558541715 |
123 | A>D | No |
ClinGen Ensembl |
|
|
CA345745537 rs1558541706 |
123 | A>T | No |
ClinGen Ensembl |
|
|
CA1517357 rs201353816 |
124 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1517359 rs749009526 |
125 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454976682 CA345745560 |
126 | E>D | No |
ClinGen gnomAD |
|
|
rs949833678 CA41560774 |
126 | E>Q | No |
ClinGen TOPMed |
|
|
rs201690293 CA41561959 |
130 | D>E | No |
ClinGen TOPMed |
|
|
rs770649554 CA1517379 |
130 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs375710666 CA1517378 |
130 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345745602 rs1225750194 |
131 | D>E | No |
ClinGen TOPMed |
|
|
CA1517380 rs774170405 |
131 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA1517381 rs745331022 |
132 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA345745607 rs745331022 |
132 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA345745614 rs1217639908 |
133 | S>N | No |
ClinGen gnomAD |
|
|
CA345745624 rs1330074531 |
134 | Y>C | No |
ClinGen TOPMed |
|
|
rs771660512 COSM1182554 CA1517382 |
138 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775844908 CA1517383 |
141 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1042072854 CA41561988 |
142 | K>N | No |
ClinGen TOPMed |
|
|
rs761310489 CA345745677 |
142 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761310489 CA1517384 |
142 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 145 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358114163 CA345745695 |
145 | N>T | No |
ClinGen TOPMed |
|
|
CA1517385 rs764588725 |
146 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517388 rs540254607 |
149 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1517390 rs762923370 |
150 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517389 rs750694861 |
150 | H>R | No |
ClinGen ExAC |
|
|
rs1294229911 CA345745729 |
151 | N>D | No |
ClinGen gnomAD |
|
|
CA345745733 rs1558542577 |
151 | N>S | No |
ClinGen Ensembl |
|
|
CA1517391 rs766542977 |
152 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1416378041 CA345745737 |
152 | Y>H | No |
ClinGen TOPMed |
|
|
CA345745753 rs1182990515 |
154 | L>F | No |
ClinGen TOPMed |
|
|
rs752577138 CA1517392 |
155 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757890281 CA1517394 |
156 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1225310595 CA345745788 |
159 | Q>H | No |
ClinGen gnomAD |
|
|
rs753639446 CA1517395 |
159 | Q>P | No |
ClinGen ExAC |
|
|
CA345745793 rs1235859399 |
160 | R>T | No |
ClinGen TOPMed |
|
|
CA1517396 rs200104628 |
161 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1517397 rs778684877 |
162 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA41562073 rs1025464231 |
162 | T>S | No |
ClinGen Ensembl |
|
|
rs868458289 CA41562074 |
163 | H>R | No |
ClinGen Ensembl |
|
|
CA1517398 rs149774631 |
164 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1517399 rs374582443 |
167 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779548984 CA1517400 |
168 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA345745853 rs1572521222 |
169 | F>S | No |
ClinGen Ensembl |
|
|
CA345745881 rs780830343 |
171 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766517945 CA1517411 |
172 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1517412 rs368478181 |
172 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766517945 CA1517410 |
172 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457311514 CA345745900 |
173 | G>V | No |
ClinGen TOPMed |
|
|
CA1517413 rs764084642 |
175 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753867733 CA1517414 COSM1182553 |
176 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757104090 COSM1407962 CA1517415 |
176 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1422472520 CA345745950 |
178 | R>I | No |
ClinGen TOPMed |
|
|
CA345745964 rs1240138029 |
179 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1240138029 CA345745962 |
179 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 179 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517416 rs778833376 |
180 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778833376 CA1517417 |
180 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420266008 CA345745982 |
181 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1420266008 CA345745980 |
181 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779592249 CA1517419 |
181 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746483704 CA1517420 |
182 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530034730 CA1517421 |
184 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345746022 rs1354124250 |
184 | Q>R | No |
ClinGen gnomAD |
|
|
CA345746040 rs1338395218 |
186 | D>N | No |
ClinGen gnomAD |
|
|
CA1517423 rs781646550 |
187 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517424 rs748715977 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517425 rs368948822 |
189 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345746085 rs1386191964 |
189 | A>T | No |
ClinGen TOPMed |
|
|
rs1442187836 CA345746118 |
191 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs918392333 CA41567959 |
191 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 192 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773562620 CA1517427 |
193 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA41567982 rs372781677 COSM259389 |
194 | E>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs771135482 CA345746166 |
195 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1517429 rs771135482 |
195 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs763240617 CA1517428 |
195 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA345746184 rs1245279227 |
197 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345746221 rs1183462682 COSM3839478 |
200 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774470148 CA1517431 |
201 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs190283526 COSM1020709 CA1517433 |
202 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs923259403 CA41568009 |
202 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345746261 rs532633577 |
204 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563354282 CA41568013 |
204 | G>R | No |
ClinGen 1000Genomes |
|
|
CA1517434 rs532633577 |
204 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761775379 CA1517435 |
205 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA345746267 rs1403575335 |
206 | V>I | No |
ClinGen gnomAD |
|
|
CA1517437 COSM3407851 rs750179410 |
207 | C>F | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1517439 rs766021231 |
214 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1517440 rs376920564 |
216 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs942366331 CA41568095 |
218 | P>A | No |
ClinGen Ensembl |
|
|
rs1224925456 CA345746352 |
218 | P>Q | No |
ClinGen gnomAD |
|
|
rs1265411651 CA345746368 |
220 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517443 rs747665725 |
221 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs780750571 CA1517442 |
221 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 223 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517459 rs369963563 |
224 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1517460 rs369963563 |
224 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866754842 CA41571340 |
224 | V>L | No |
ClinGen Ensembl |
|
|
CA1517462 rs200086179 |
225 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375625212 CA1517463 |
225 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1517465 rs755611097 |
226 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942584414 CA41571357 |
227 | A>E | No |
ClinGen Ensembl |
|
|
rs749809369 CA1517467 |
230 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517468 rs369048525 |
231 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1039635189 CA41571367 |
231 | A>T | No |
ClinGen Ensembl |
|
|
COSM1734400 CA1517469 rs369048525 |
231 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs534935457 CA1517471 |
234 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1446209817 CA345746463 |
235 | E>K | No |
ClinGen TOPMed |
|
|
CA1517472 rs775882081 |
237 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768663766 CA1517474 |
239 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391572924 CA345746493 |
239 | R>S | No |
ClinGen gnomAD |
|
|
CA345746500 rs762868301 |
241 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517476 rs762868301 |
241 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377253960 CA1517478 |
242 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200233346 CA1517477 |
242 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345746512 rs1360781279 |
243 | P>T | No |
ClinGen gnomAD |
|
|
CA1517479 rs759353559 |
245 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1517480 rs767116455 |
246 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194057004 CA345746568 |
249 | D>E | No |
ClinGen TOPMed |
|
|
CA345746563 rs1156420149 |
249 | D>Y | No |
ClinGen gnomAD |
|
|
rs770809478 CA345746574 CA1517495 |
250 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517494 rs748276169 |
250 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345746583 rs1243489513 |
252 | G>S | No |
ClinGen gnomAD |
|
|
CA345746608 rs1281619594 |
255 | L>F | No |
ClinGen TOPMed |
|
|
rs375032704 CA1517501 |
257 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345746634 rs1264324746 |
260 | E>K | No |
ClinGen TOPMed |
|
|
rs763818553 CA1517502 |
262 | A>S | No |
ClinGen ExAC |
|
|
CA1517503 rs753237550 |
263 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201366958 COSM721062 CA1517504 |
265 | R>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs35124934 CA345746670 |
265 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000961944 rs35124934 CA1517505 |
265 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA41571987 rs959314599 |
266 | L>W | No |
ClinGen Ensembl |
|
|
rs555732595 CA1517506 |
267 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200948204 CA1517508 |
268 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1517507 rs758820544 |
268 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1404454020 CA345746690 |
269 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751960993 CA1517509 |
272 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 273 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345746720 rs1558549158 |
274 | R>* | No |
ClinGen Ensembl |
|
|
rs376178731 CA41572015 |
274 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376178731 CA1517512 |
274 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376178731 CA1517513 |
274 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345746742 rs1201536199 |
277 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200397381 CA1517515 |
278 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778800037 CA1517516 |
279 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs569301818 CA41572024 |
280 | K>N | No |
ClinGen gnomAD |
|
|
CA41572032 rs962917433 |
284 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776130921 CA1517541 |
285 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1373844086 CA345746814 |
286 | A>G | No |
ClinGen gnomAD |
|
|
CA345746810 rs1274052602 |
286 | A>T | No |
ClinGen gnomAD |
|
|
CA345746829 rs192504736 |
288 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345746837 rs1174810948 |
289 | S>R | No |
ClinGen TOPMed |
|
|
RCV000961945 CA1517545 rs6730396 |
290 | C>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1220307114 CA345746859 |
293 | D>N | No |
ClinGen gnomAD |
|
|
rs1179311183 CA345746875 |
295 | C>G | No |
ClinGen gnomAD |
|
|
CA345746921 rs1558551276 |
302 | E>K | No |
ClinGen Ensembl |
|
|
rs553078203 CA1517552 |
303 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1517553 rs756264218 |
303 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1517555 rs753874112 |
305 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345746957 rs1376064071 |
307 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757366913 CA1517556 |
307 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA41574675 rs927113192 |
308 | Q>K | No |
ClinGen gnomAD |
|
|
CA41574689 rs959895384 |
308 | Q>R | No |
ClinGen gnomAD |
|
|
CA1517557 rs183341992 |
310 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345746983 rs1227243068 |
311 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273349274 CA345746993 |
312 | L>P | No |
ClinGen gnomAD |
|
|
rs747021694 CA1517558 |
313 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517561 rs747967312 |
315 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517562 rs769524729 |
316 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA41574717 rs971626439 |
317 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA345747023 rs971626439 |
317 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA41574724 rs1002984154 |
318 | K>Q | No |
ClinGen TOPMed |
|
|
rs376204543 CA1517565 |
319 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168305633 CA345747052 |
322 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774707769 CA1517567 |
324 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1517597 rs762977000 |
326 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345747262 rs1262759738 |
327 | S>C | No |
ClinGen gnomAD |
|
|
rs1344495870 CA345747272 |
329 | N>H | No |
ClinGen TOPMed |
|
|
CA1517598 rs377763532 |
329 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345747274 rs1480848161 |
329 | N>S | No |
ClinGen gnomAD |
|
|
rs752732084 CA1517599 |
331 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345747293 rs755960969 |
332 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517600 rs755960969 |
332 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387041182 COSM4141085 CA345747305 |
334 | F>L | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1195050934 CA345747314 |
335 | D>H | No |
ClinGen gnomAD |
|
|
CA1517604 rs756879453 |
338 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426329364 CA345747339 |
339 | L>V | No |
ClinGen gnomAD |
|
|
CA1517606 rs201981665 |
340 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1517605 rs370256431 |
340 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1517608 rs367803774 |
341 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747581780 CA1517609 |
342 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1517610 rs188100276 |
344 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528768219 CA1517614 |
347 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528768219 CA1517613 |
347 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528768219 CA1517612 |
347 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
TCGA novel CA345747394 rs1572539467 |
348 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1572539479 CA345747411 |
351 | T>P | No |
ClinGen Ensembl |
|
|
CA1517618 rs775569092 |
352 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371997299 CA1517617 |
352 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201064176 CA1517621 |
354 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345747429 rs757039994 |
354 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1517623 rs757039994 |
354 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201064176 CA1517622 |
354 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345747438 rs1479932817 CA345747437 |
355 | D>E | No |
ClinGen TOPMed |
|
|
CA345747436 rs1572539540 |
355 | D>V | No |
ClinGen Ensembl |
|
|
rs1157557204 CA345747441 |
356 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1385258954 CA345747447 |
357 | G>* | No |
ClinGen gnomAD |
|
|
CA41575650 rs928317726 |
359 | S>R | No |
ClinGen TOPMed |
|
|
CA1517626 rs764917648 |
360 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 360 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1517627 rs750097936 |
361 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1329886148 CA345747475 |
362 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs142516533 CA1517628 |
362 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1249345331 CA345747481 |
363 | L>P | No |
ClinGen TOPMed |
|
|
CA1517630 rs746535229 |
364 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1517629 rs372069009 |
364 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345747499 rs1269126416 |
366 | F>L | No |
ClinGen gnomAD |
|
|
rs1309147218 CA345747506 |
367 | P>L | No |
ClinGen gnomAD |
|
|
CA345747509 rs1356398062 |
368 | S>G | No |
ClinGen gnomAD |
|
|
CA345747508 rs1356398062 |
368 | S>R | No |
ClinGen gnomAD |
|
|
CA1517632 rs761235208 |
370 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192906577 CA1517633 |
372 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs913682533 CA41575663 |
374 | R>K | No |
ClinGen gnomAD |
|
|
rs770106699 CA1517635 |
375 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345747560 rs1177992254 |
376 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1328970361 CA345747557 |
376 | R>W | No |
ClinGen TOPMed |
|
|
rs1446000500 CA345747587 |
380 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA41575672 rs991831428 |
383 | F>C | No |
ClinGen TOPMed |
|
|
CA1517637 rs749539627 |
383 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367536265 CA345747618 |
384 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1168877552 CA345747622 |
385 | V>E | No |
ClinGen gnomAD |
|
|
CA345747628 rs1233479104 |
386 | S>N | No |
ClinGen TOPMed |
|
|
CA1517639 rs774518291 |
388 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764086389 CA1517641 |
391 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345747663 rs1217894687 |
391 | P>T | No |
ClinGen gnomAD |
No associated diseases with Q8N6M5
2 regional properties for Q8N6M5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Allantoicase domain | 9 - 183 | IPR015908-1 |
| domain | Allantoicase domain | 204 - 365 | IPR015908-2 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| allantoicase activity | Catalysis of the reaction: allantoate + H(2)O = (S)-ureidoglycolate + urea. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| allantoin catabolic process | The chemical reactions and pathways resulting in the breakdown of allantoin, (2,5-dioxo-4-imidazolidinyl)urea. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q640T1 | allc | Allantoicase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDMASESVGG | KILFATDDFF | APAENLIKSD | SPCFKEHEYT | EFGKWMDGWE | TRRKRIPGHD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WCVLRLGIQG | VIRGFDVDVS | YFTGDYAPRV | SIQAANLEED | KLPEIPERGT | RTGAAATPEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FEAIAELKSD | DWSYLVPMTE | LKPGNPASGH | NYFLVNSQQR | WTHIRLNIFP | DGGIARLRVF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTGQKDWTAT | DPKEPADLVA | IAFGGVCVGF | SNAKFGHPNN | IIGVGGAKSM | ADGWETARRL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DRPPILENDE | NGILLVPGCE | WAVFRLAHPG | VITRIEIDTK | YFEGNAPDSC | KVDGCILTTQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EEEAVIRQKW | ILPAHKWKPL | LPVTKLSPNQ | SHLFDSLTLE | LQDVITHARL | TIVPDGGVSR |
| 370 | 380 | 390 | |||
| LRLRGFPSSI | CLLRPREKPM | LKFSVSFKAN | P |