Q8NCT3
PR
Gene name |
MATCAP2 |
Protein name |
Putative tyrosine carboxypeptidase MATCAP2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23366 |
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 Q8NCT3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NCT3-F1 | Predicted | AlphaFoldDB |
347 variants for Q8NCT3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA367200054 rs1562778120 |
4 | C>R | No |
ClinGen Ensembl |
|
|
rs1583581014 CA367200047 |
5 | T>P | No |
ClinGen Ensembl |
|
|
CA4219227 rs369030060 |
6 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369030060 CA367200040 |
6 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4219226 rs772861024 |
6 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA367200018 rs1227951541 |
9 | T>I | No |
ClinGen gnomAD |
|
|
CA367200014 rs1583580953 |
10 | H>P | No |
ClinGen Ensembl |
|
|
rs1305615894 CA367200015 |
10 | H>Y | No |
ClinGen gnomAD |
|
|
rs1554337799 CA367200008 |
11 | L>F | No |
ClinGen Ensembl |
|
|
rs1554337799 CA4219224 |
11 | L>V | No |
ClinGen Ensembl |
|
|
CA4219223 rs772106268 |
12 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219222 rs372625290 |
14 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779142813 CA4219221 |
14 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219219 rs763673383 |
16 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199983839 CA4219218 |
17 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367199954 rs1424457329 |
18 | P>H | No |
ClinGen TOPMed |
|
|
CA367199952 rs1424457329 |
18 | P>L | No |
ClinGen TOPMed |
|
|
rs935499825 CA157069680 |
18 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1397425999 CA367199939 |
20 | R>H | No |
ClinGen gnomAD |
|
|
CA157069674 rs925438242 |
21 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1333425567 CA367199931 |
22 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4219215 rs756371103 |
24 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA367199920 rs756371103 |
24 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA4219214 COSM1187282 rs750844258 |
25 | R>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1179116668 CA367199915 |
25 | R>Q | No |
ClinGen gnomAD |
|
|
rs375252333 CA4219213 |
28 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4219212 rs757847413 |
28 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375252333 CA367199895 |
28 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs974720574 CA157069596 |
32 | F>V | No |
ClinGen TOPMed |
|
|
rs371911199 CA4219211 |
34 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4219210 rs764739724 |
34 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4219209 rs759008186 |
35 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428737467 CA367199841 |
36 | K>Q | No |
ClinGen gnomAD |
|
|
rs201744370 CA4219178 |
40 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 42 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768758340 CA4219177 |
43 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219176 rs574095934 |
45 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1052434733 CA157063524 |
46 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4219174 rs769694320 |
47 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA367198161 rs1366556307 |
49 | A>V | No |
ClinGen Ensembl |
|
|
CA4219172 rs371482521 |
52 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771153903 CA367198075 |
55 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219171 rs771153903 |
55 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219170 rs747423814 |
59 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA367203949 rs565051464 |
60 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1188544256 CA367203946 |
61 | K>E | No |
ClinGen gnomAD |
|
|
rs1208039995 CA367203941 |
61 | K>N | No |
ClinGen gnomAD |
|
|
CA367203914 rs1189646147 |
65 | P>H | No |
ClinGen gnomAD |
|
|
rs749795386 CA4219126 |
65 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4219124 rs545148194 |
66 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4219125 rs368436001 |
66 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA157075845 rs950628113 |
67 | Q>* | No |
ClinGen Ensembl |
|
|
CA367203904 rs950628113 |
67 | Q>E | No |
ClinGen Ensembl |
|
|
CA4219122 rs777527019 |
69 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1227608615 CA367203886 |
69 | L>R | No |
ClinGen gnomAD |
|
|
rs761076428 CA157075827 |
74 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761076428 CA4219120 |
74 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367203833 rs1185615271 |
75 | L>R | No |
ClinGen TOPMed |
|
|
CA4219119 rs370666510 |
76 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444790961 CA367203815 |
78 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766471625 CA4219115 |
83 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4219116 rs753753071 |
83 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4219114 rs760708786 |
84 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767780446 CA4219112 |
85 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179210836 CA367203717 |
86 | K>N | No |
ClinGen gnomAD |
|
|
CA367203678 rs1483890857 |
90 | S>L | No |
ClinGen gnomAD |
|
|
rs991935124 CA157075699 |
90 | S>P | No |
ClinGen Ensembl |
|
|
rs376014246 CA157075693 |
91 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs374543103 CA4219111 |
94 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4219108 rs763380439 |
96 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770594299 CA4219106 |
99 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs770594299 COSM261567 COSM261566 CA4219107 |
99 | D>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA367203515 rs1300801259 |
102 | T>I | No |
ClinGen gnomAD |
|
|
rs1225152793 CA367203486 |
105 | T>S | No |
ClinGen gnomAD |
|
|
rs746558590 CA4219105 |
107 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1307825161 CA367203459 |
107 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 109 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367203412 rs1301656533 |
110 | V>I | No |
ClinGen gnomAD |
|
|
rs771918656 CA4219103 |
111 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1034152067 CA157075576 |
112 | L>R | No |
ClinGen Ensembl |
|
|
CA4219102 rs747771019 |
113 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA367203356 rs1389856494 |
114 | S>I | No |
ClinGen gnomAD |
|
|
CA367203311 rs1409402357 |
116 | E>D | No |
ClinGen gnomAD |
|
|
CA4219100 rs369837787 |
118 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4219098 rs780010491 |
119 | K>N | No |
ClinGen ExAC |
|
|
rs753754055 CA4219099 |
119 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4219097 rs756027269 |
120 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA367203227 rs1562758375 |
120 | Y>C | No |
ClinGen Ensembl |
|
|
CA157075517 rs200135558 |
122 | S>L | No |
ClinGen Ensembl |
|
|
CA367203185 rs1346043253 |
123 | Q>E | No |
ClinGen TOPMed |
|
|
CA367203171 rs1482623876 |
123 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4219095 rs767576321 |
125 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377702299 CA4219094 |
126 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4219092 rs764386192 |
129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA367203064 rs1234256985 |
129 | T>S | No |
ClinGen gnomAD |
|
|
CA4219091 rs763335153 |
130 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA367203048 rs763335153 |
130 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA157075502 rs1021216863 |
131 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA367203021 rs1021216863 |
131 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1009859024 CA157075496 |
134 | C>R | No |
ClinGen Ensembl |
|
|
CA4219090 rs775965678 |
134 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367202952 rs1176939335 |
135 | R>G | No |
ClinGen gnomAD |
|
|
CA367202807 rs1474786729 |
140 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1455769032 CA367202801 |
141 | P>A | No |
ClinGen gnomAD |
|
|
rs760116958 CA4219087 |
142 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367202710 rs1370013275 |
144 | S>C | No |
ClinGen gnomAD |
|
|
CA157075477 rs201511349 |
145 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4219086 rs201511349 |
145 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219085 rs771651088 |
145 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747780074 CA4219084 |
146 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs778590332 CA4219083 |
148 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1386050290 CA367202599 |
149 | P>S | No |
ClinGen TOPMed |
|
|
CA367202570 rs1463198300 |
150 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs113184966 CA4219082 |
150 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113184966 CA367202563 |
150 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749160285 CA4219081 |
151 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs779816032 CA4219080 |
151 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4219079 rs756106791 |
154 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs369438919 CA4219078 |
158 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4219077 rs781260158 |
163 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1326784204 CA367202339 |
164 | W>* | No |
ClinGen gnomAD |
|
|
CA367202317 rs757310600 |
166 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757310600 CA4219076 |
166 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199901322 CA4219074 |
170 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4219075 rs751759163 |
170 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1484881479 CA367202266 |
171 | P>R | No |
ClinGen gnomAD |
|
|
CA367202269 rs1233793413 |
171 | P>S | No |
ClinGen TOPMed |
|
|
rs78387918 CA4219073 |
173 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367202234 rs1373562592 |
175 | V>I | No |
ClinGen gnomAD |
|
|
rs1351053104 CA367202199 |
178 | S>L | No |
ClinGen TOPMed |
|
|
rs369116622 CA157075389 |
185 | F>Y | No |
ClinGen ESP TOPMed |
|
|
CA367202057 rs1447087433 |
187 | H>L | No |
ClinGen gnomAD |
|
|
rs765631482 CA4219071 |
189 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA367201985 rs1446395205 |
190 | S>C | No |
ClinGen TOPMed |
|
|
rs760135437 CA4219070 |
191 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4219068 rs544638760 |
194 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4219067 rs139826921 |
195 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4219064 rs748930848 |
198 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA157075346 rs1039152914 |
200 | P>L | No |
ClinGen TOPMed |
|
|
rs775265089 CA4219063 |
203 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1438798585 CA367201706 |
206 | V>I | No |
ClinGen gnomAD |
|
|
CA4219062 rs374467682 |
208 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4219060 rs781065581 |
213 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA367201518 rs1370969583 |
214 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4219059 rs199774798 |
215 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747160862 CA4219058 |
216 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA367201469 rs1583547642 |
217 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367201421 rs1173710591 |
220 | Q>* | No |
ClinGen gnomAD |
|
|
CA4219056 CA367201411 rs777701585 |
220 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA367201390 rs1197775144 |
222 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4219054 rs752910180 |
223 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1203559122 CA367201298 |
227 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886117331 CA157075281 |
232 | S>P | No |
ClinGen TOPMed |
|
|
rs755355884 CA4219051 |
237 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35828246 CA4219050 |
238 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367201136 rs1297351323 |
238 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367201128 rs1343024423 |
239 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs930936297 CA157075259 |
240 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4219049 rs766962049 |
240 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4219047 rs773983409 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4219045 rs200592440 |
245 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367201069 rs200592440 |
245 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA157075215 rs991967592 |
253 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1250760630 CA367200916 |
255 | F>L | No |
ClinGen TOPMed |
|
|
rs769605870 CA4219043 |
260 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1472722611 CA367200801 |
261 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1179250930 CA367200794 |
262 | N>H | No |
ClinGen TOPMed |
|
|
CA4219042 rs61735496 |
262 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289455235 CA367200766 |
264 | Q>* | No |
ClinGen TOPMed |
|
|
CA4219041 rs553186668 |
264 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA157075201 rs1033773657 |
265 | F>V | No |
ClinGen TOPMed |
|
|
CA367200722 rs1416410370 |
266 | E>D | No |
ClinGen TOPMed |
|
|
CA157075199 rs917377912 |
269 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4219040 rs770959326 |
270 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA4219039 rs746916077 |
271 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1205865728 CA367200642 |
273 | P>L | No |
ClinGen gnomAD |
|
|
CA367200638 rs1331477616 |
274 | S>G | No |
ClinGen gnomAD |
|
|
CA157075174 rs979892862 |
274 | S>N | No |
ClinGen Ensembl |
|
|
CA367200632 rs1192256404 |
274 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777923739 CA4219038 |
275 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219036 rs748414607 |
277 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4219035 rs748414607 |
277 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779320501 CA4219034 |
279 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM312276 rs754316154 CA4219032 COSM312277 |
282 | A>T | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1233738037 CA367200529 |
283 | S>C | No |
ClinGen TOPMed |
|
|
CA367200526 rs1332935575 |
284 | D>N | No |
ClinGen gnomAD |
|
|
rs766652749 CA4219031 |
285 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs535924239 CA4219030 COSM1212007 COSM1212006 |
285 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs370690881 CA4219028 |
288 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367200472 rs1243406064 |
289 | Q>* | No |
ClinGen TOPMed |
|
|
CA4218991 rs757829275 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1248229493 CA367196761 |
293 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4218990 rs751997308 |
293 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367196728 rs1210248598 |
298 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1260520829 CA367196722 |
299 | L>F | No |
ClinGen gnomAD |
|
|
CA4218988 rs754405636 |
299 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753356518 CA157059909 |
301 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4218987 rs753356518 |
301 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4218986 rs765993896 |
302 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA367196689 rs1366060559 |
305 | T>A | No |
ClinGen gnomAD |
|
|
CA367196661 rs1157780969 |
309 | G>E | No |
ClinGen gnomAD |
|
|
CA4218982 rs761851015 |
311 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764305049 CA4218980 |
314 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA157059839 rs762624414 |
315 | I>V | No |
ClinGen gnomAD |
|
|
rs1248135016 CA367196619 |
316 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1051952338 CA157059833 |
318 | S>C | No |
ClinGen TOPMed |
|
|
CA4218979 rs762985580 |
320 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4218978 rs775619519 |
321 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367196591 rs1260673515 |
321 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369747082 CA367196577 |
323 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4218977 rs369747082 |
323 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 323 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776984489 CA4218975 |
326 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs771228277 CA4218974 |
329 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA367196531 rs1342884318 |
330 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747545141 CA4218973 |
330 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778291094 CA4218972 |
333 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759690602 CA4218959 COSM261563 COSM261562 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1338871838 CA367196442 |
341 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367196428 rs1583506841 |
343 | N>T | No |
ClinGen Ensembl |
|
|
rs1235730863 CA367196415 |
345 | Q>* | No |
ClinGen gnomAD |
|
|
rs771109829 CA4218957 |
345 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1404181303 CA367196401 |
347 | P>A | No |
ClinGen gnomAD |
|
|
CA367196393 rs1369230814 |
348 | W>* | No |
ClinGen TOPMed |
|
|
CA157058953 rs779461323 |
350 | S>N | No |
ClinGen TOPMed |
|
|
rs1295052530 CA367196358 |
352 | T>I | No |
ClinGen TOPMed |
|
|
rs773550835 CA367196357 |
353 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4218955 rs773550835 COSM1673110 COSM1673109 |
353 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772519539 CA4218954 |
353 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4218952 rs779440940 COSM161915 COSM161916 |
354 | R>C | lung breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4218951 rs755597814 |
354 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781035532 CA4218949 |
355 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4218948 rs756951445 |
356 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279441676 CA367196305 |
361 | P>A | No |
ClinGen gnomAD |
|
|
rs1262804032 CA367196295 |
362 | N>K | No |
ClinGen gnomAD |
|
|
rs758274084 CA4218945 |
362 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4218946 rs777622368 |
362 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372968725 CA4218944 |
364 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350914360 CA367196281 |
365 | T>A | No |
ClinGen gnomAD |
|
|
rs765254881 CA4218943 |
365 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4218942 rs759652203 |
370 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4218941 rs369395519 |
372 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1415738590 CA367196222 |
374 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367196204 rs1467406063 |
376 | L>P | No |
ClinGen gnomAD |
|
|
CA367196177 rs1583506502 |
380 | D>A | No |
ClinGen Ensembl |
|
|
CA367196178 COSM1212005 COSM3950476 COSM1212004 rs1583506515 |
380 | D>Y | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1458060467 CA367196170 |
381 | P>S | No |
ClinGen gnomAD |
|
|
CA4218937 rs375185883 |
382 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772419169 CA4218936 |
387 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1456848997 CA367196115 |
389 | L>P | No |
ClinGen TOPMed |
|
|
rs774885193 CA4218934 |
392 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367196082 rs1440805802 |
394 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 395 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4218933 rs769015417 |
397 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1583506411 CA367196013 |
403 | E>V | No |
ClinGen Ensembl |
|
|
CA4218932 rs745423634 |
407 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367195957 rs1221927082 |
411 | F>C | No |
ClinGen gnomAD |
|
|
CA4218931 rs201673199 |
411 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA4218929 rs746595334 |
412 | V>D | No |
ClinGen ExAC |
|
|
rs74737039 CA4218930 |
412 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4218926 rs752403478 |
414 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4218924 rs754895603 |
415 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA367195930 rs1583506283 |
416 | N>H | No |
ClinGen Ensembl |
|
|
rs371846023 CA4218923 |
416 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367195898 rs1583506258 |
420 | D>G | No |
ClinGen Ensembl |
|
|
rs766376129 CA4218922 |
420 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561902520 CA4218920 |
422 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4218918 rs762282551 |
424 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4218919 rs767800476 |
424 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs542254419 CA157058688 |
425 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1384698500 CA367195850 |
428 | G>R | No |
ClinGen gnomAD |
|
|
CA4218917 rs774560788 |
429 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 431 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379347117 CA367195811 |
433 | S>F | No |
ClinGen TOPMed |
|
|
CA4218916 rs769266123 |
435 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1247082289 CA367195782 |
436 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1247082289 CA367195780 |
436 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 436 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367195758 rs1480724607 |
439 | S>I | No |
ClinGen TOPMed |
|
|
CA4218903 rs750443225 |
442 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367195735 rs1224547051 |
442 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767833225 CA4218902 |
447 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367195693 rs1166355343 |
448 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 449 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 449 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA157056366 rs751552500 |
453 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4218901 rs372198183 |
453 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA573941655 rs1213639379 |
454 | Y>* | No |
ClinGen gnomAD |
|
|
CA4218900 rs752032054 |
456 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157056354 rs940145394 |
457 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1444551786 CA367195630 |
458 | I>T | No |
ClinGen TOPMed |
|
|
rs1276968054 CA367195623 |
459 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1276968054 CA367195622 |
459 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764489024 CA4218899 |
460 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs763569651 CA4218898 |
461 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367195578 TCGA novel rs1583501523 |
466 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA367195577 rs1169937891 |
467 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 469 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367195542 rs1248402472 |
469 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1248402472 CA367195543 |
469 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1483314072 CA367195533 |
470 | S>F | No |
ClinGen gnomAD |
|
|
CA367195527 rs1244555981 |
471 | Y>F | No |
ClinGen gnomAD |
|
|
rs1445580443 CA367195524 |
472 | E>* | No |
ClinGen TOPMed |
|
|
rs766878717 CA4218876 |
475 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367195492 rs1459117652 |
476 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1300166155 CA367195495 |
476 | R>S | No |
ClinGen Ensembl |
|
|
CA367195444 rs1206643516 |
483 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 483 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs568010970 CA4218872 |
484 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs563885993 CA4218871 |
486 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA157052797 rs867170191 |
490 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 490 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4218869 rs780271725 |
493 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011288983 CA157052787 |
496 | G>V | No |
ClinGen Ensembl |
|
|
rs781346763 CA367195353 |
497 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781346763 CA4218868 |
497 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs548117983 CA4218867 |
497 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747287289 CA4218866 |
499 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1361962045 CA367195339 |
499 | M>T | No |
ClinGen gnomAD |
|
|
CA367195324 rs1423840922 |
501 | H>P | No |
ClinGen gnomAD |
|
|
CA4218864 rs778181902 |
501 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
rs758679663 CA4218863 |
504 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs531386040 CA4218862 |
506 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460597003 CA367195281 |
507 | E>Q | No |
ClinGen gnomAD |
|
|
rs191576648 CA4218861 |
510 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755520772 CA4218860 |
511 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260611629 CA367195244 |
512 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367195220 rs1583494451 |
516 | L>M | No |
ClinGen Ensembl |
|
|
rs376810223 CA4218859 |
520 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767082685 CA4218858 |
521 | I>W | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8NCT3
No regional properties for Q8NCT3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8NCT3 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7TQE7 | Matcap2 | Putative tyrosine carboxypeptidase MATCAP2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGCTRKLTH | LRKRIHRPRR | RTTRRWKRWF | KFRKRKGEKR | PRPNHKAVAR | RAKLKFSTSE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KLHWPEQELA | KKSILNAEDS | LIIDNKRSIS | HLSSGVLKDI | FTTGTSSYNV | LLQSKEEKKY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HSQKQSSSTY | SKRCRKPSKS | PNTSRSKDPR | RMKALVPVTS | SGTWYCLERR | PAVFVTSSVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SPVKFTHDIS | VTGNGIVLPP | KPKSKVKWCH | FSTLPKPKPQ | LSRSFEKGDD | FSGKKFCILT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AIKPTNLEKE | KLRFFKSDYT | YNPQFEYANP | ALPSVLAKHS | HASDRFLKQI | VVHLTEDLLS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RASMTVVNGC | PTLTINVSTA | REHWLEGMLR | HEIGTHYFRG | INNLQQPWNS | WTGRKKHELK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PNNPTEEGLA | SIHSVLFRKD | PFLWRAALLY | YTVYQASQMS | FCELFKDIGR | FVKDPNTRWD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YCVRAKRGWT | DTSQPGCFSK | DQVYLDGILQ | ILRYRDTIDF | HLLTALGKVS | YEDVDRLKGL |
| 490 | 500 | 510 | |||
| AVTENMRVPH | FLQDHGRYME | HLEKIMEVNE | LTDRELKDLI |