Q9BZM4
Gene name |
ULBP3 (N2DL3, RAET1N) |
Protein name |
UL16-binding protein 3 |
Names |
ALCAN-gamma, NKG2D ligand 3, N2DL-3, NKG2DL3, Retinoic acid early transcript 1N |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79465 |
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
2 structures for Q9BZM4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1KCG | X-ray | 260 A | C | 30-207 | PDB |
| AF-Q9BZM4-F1 | Predicted | AlphaFoldDB |
234 variants for Q9BZM4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA366033370 rs1295674176 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA4046710 rs200912438 |
3 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs200912438 CA150037239 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4046709 rs564647046 |
4 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366033336 rs1401918177 |
5 | A>S | No |
ClinGen gnomAD |
|
|
rs1388975782 CA366033287 |
6 | S>N | No |
ClinGen gnomAD |
|
|
rs905543384 CA150037197 |
6 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4046707 rs761807316 |
8 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046708 rs371018793 |
8 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366033194 rs1487636014 |
10 | L>F | No |
ClinGen TOPMed |
|
|
CA4046706 rs377740812 |
11 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366033165 rs377740812 |
11 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366033131 rs1226697167 |
12 | R>C | No |
ClinGen Ensembl |
|
|
rs934380315 CA150037173 |
12 | R>H | No |
ClinGen gnomAD |
|
|
rs934380315 CA366033119 |
12 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366033037 rs1248945691 |
16 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366032981 CA4046703 rs72501734 |
18 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366032966 rs1369372638 |
19 | L>P | No |
ClinGen TOPMed |
|
|
CA366032913 rs1339365158 |
21 | F>L | No |
ClinGen gnomAD |
|
|
CA4046700 rs776177800 |
21 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359987591 CA366032894 |
22 | D>H | No |
ClinGen TOPMed |
|
|
rs1436732782 CA366032816 |
24 | S>Y | No |
ClinGen gnomAD |
|
|
CA366032777 rs1438206181 |
25 | G>A | No |
ClinGen gnomAD |
|
|
rs143819981 CA4046699 |
25 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201424815 CA150037168 |
26 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201424815 CA4046698 |
26 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1409122095 CA366032696 |
28 | R>P | No |
ClinGen gnomAD |
|
|
CA366032698 rs1409122095 |
28 | R>Q | No |
ClinGen gnomAD |
|
|
rs113233347 CA366032691 |
29 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113233347 CA4046696 |
29 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA150037122 rs973221255 |
30 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4046657 rs569651856 |
31 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752756870 CA4046658 |
31 | A>T | Variant assessed as Somatic; 4.749e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4046656 rs759614006 |
33 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 34 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366031033 rs1177090250 |
36 | Y>C | No |
ClinGen gnomAD |
|
|
rs1476901702 CA366031005 |
40 | I>V | No |
ClinGen TOPMed |
|
|
CA4046655 rs753688977 |
42 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366030977 rs1406029944 |
44 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4046653 rs549777601 |
45 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA366030964 rs1562520345 |
46 | H>R | No |
ClinGen Ensembl |
|
|
CA4046652 rs772951130 |
46 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771649601 CA4046651 |
47 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs761330157 CA4046650 |
48 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256032909 CA366030951 |
48 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773904670 CA4046649 |
49 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309465373 CA366030943 |
49 | Q>H | No |
ClinGen TOPMed |
|
|
CA366030945 rs1269600381 |
49 | Q>R | No |
ClinGen gnomAD |
|
|
CA4046648 rs769009568 |
50 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA820682341 rs1436173952 |
50 | W>* | No |
ClinGen TOPMed |
|
|
CA4046647 rs769009568 |
50 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747110297 CA366030930 |
51 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA150034908 rs747110297 |
51 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4046646 rs781525558 |
52 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA366030908 rs1370400129 |
54 | Q>H | No |
ClinGen TOPMed |
|
|
CA4046645 rs529831883 |
56 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA150034888 rs149415565 |
57 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4046644 rs747294120 |
58 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778145278 CA4046643 |
59 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046642 rs199897950 |
59 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199897950 CA150034885 |
59 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046640 rs779173572 |
60 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451206571 CA366030818 |
62 | F>V | No |
ClinGen TOPMed |
|
|
CA4046638 rs138871352 |
65 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185471977 CA366030770 |
66 | D>N | No |
ClinGen gnomAD |
|
|
CA366030739 rs1484606727 |
68 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA366030729 rs1249575740 |
69 | S>N | No |
ClinGen gnomAD |
|
|
CA366030685 rs1347910144 |
71 | K>N | No |
ClinGen Ensembl |
|
|
CA366030674 rs1247004599 |
72 | V>L | No |
ClinGen TOPMed |
|
|
CA4046636 rs760525576 |
74 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs150119539 CA4046635 |
74 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366030602 rs1294765745 |
75 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761516474 CA4046633 |
75 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046632 rs369161228 |
76 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366030546 rs1322809393 |
78 | L>P | No |
ClinGen gnomAD |
|
|
CA366030549 rs1363049487 |
78 | L>V | No |
ClinGen gnomAD |
|
|
rs565612520 CA150034785 |
82 | L>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1459741432 CA366030434 COSM1441161 |
84 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs777224791 CA4046629 |
86 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759322111 CA4046627 |
87 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771275850 CA4046628 |
87 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759322111 CA4046626 |
87 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391410577 CA366030349 |
89 | G>* | No |
ClinGen gnomAD |
|
|
rs137927077 CA4046625 |
89 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1391410577 CA366030346 |
89 | G>R | No |
ClinGen gnomAD |
|
|
rs748432911 CA4046624 |
93 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4046623 rs779230451 |
94 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs373626721 CA150034760 |
97 | E>K | No |
ClinGen Ensembl |
|
|
CA4046622 rs755120854 |
97 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046620 rs749262581 |
98 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1340171392 CA366030118 |
99 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756067198 CA4046618 |
103 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA366029999 rs1247315196 |
104 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366029903 rs1465251700 |
108 | D>N | No |
ClinGen TOPMed |
|
|
rs1189972009 CA366029866 |
109 | T>I | No |
ClinGen TOPMed |
|
|
CA366029875 rs1312885353 |
109 | T>S | No |
ClinGen gnomAD |
|
|
CA4046616 rs34672740 |
110 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4046615 rs757021798 |
110 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA4046614 rs140233188 |
111 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4046613 rs763695201 |
111 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046612 rs201893141 |
112 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046610 rs375239450 |
115 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1372923068 CA366029736 |
116 | P>S | No |
ClinGen gnomAD |
|
|
CA4046609 rs371894085 |
117 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366029695 rs1453260135 |
117 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1453260135 CA366029692 |
117 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1260356177 CA366029607 |
118 | G>E | No |
ClinGen gnomAD |
|
|
CA4046608 rs773833519 |
118 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs769063868 CA4046583 |
119 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA366029598 rs763120446 |
119 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366029596 rs763120446 |
119 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046582 rs763120446 |
119 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769063868 CA366029600 |
119 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4046581 rs148156422 |
121 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745905985 CA4046579 |
123 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA150034444 rs929102324 |
123 | Q>R | No |
ClinGen TOPMed |
|
|
CA366029541 rs1335679485 |
124 | V>F | No |
ClinGen gnomAD |
|
|
CA366029523 rs1396078365 |
125 | R>S | No |
ClinGen gnomAD |
|
|
rs781110610 CA4046578 |
126 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200023001 CA4046577 |
127 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200023001 CA366029495 |
127 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746935840 CA4046576 |
128 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs777495265 CA4046575 |
128 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4046574 rs758190832 |
129 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4046573 rs752315575 |
129 | E>A | No |
ClinGen ExAC |
|
|
rs778590282 CA366029455 |
129 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs375719409 CA150034428 |
132 | A>G | No |
ClinGen ESP TOPMed |
|
|
CA4046569 rs762480458 |
133 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046568 rs762480458 |
133 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366029376 rs1305069981 |
134 | G>V | No |
ClinGen TOPMed |
|
|
rs371828950 CA4046565 |
137 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4046564 rs34547018 |
137 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367595267 CA150034406 |
141 | Q>R | No |
ClinGen ESP |
|
|
CA4046563 rs200807610 |
143 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200807610 CA366029256 |
143 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA150034400 rs1009574127 |
144 | F>L | No |
ClinGen TOPMed |
|
|
COSM303518 rs144986963 CA4046561 |
145 | D>N | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA150034370 rs747663456 |
146 | G>* | No |
ClinGen Ensembl |
|
|
CA4046559 rs35374376 |
147 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4046558 rs35374376 |
147 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4046560 rs372155960 |
147 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA150034355 rs977639148 |
149 | F>I | No |
ClinGen TOPMed |
|
|
CA4046557 rs771796839 |
150 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4046556 rs747912077 |
153 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA366029044 rs1390135242 |
154 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA366029026 rs1415942142 |
155 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1460932782 CA366028935 |
158 | K>R | No |
ClinGen gnomAD |
|
|
rs778446638 CA4046554 |
159 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1389588784 CA366028900 |
160 | T>R | No |
ClinGen gnomAD |
|
|
CA366028886 rs1389735115 |
161 | V>E | No |
ClinGen TOPMed |
|
|
CA366028855 rs1582865512 |
163 | H>L | No |
ClinGen Ensembl |
|
|
rs367950741 CA4046553 |
163 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4046549 rs752025572 |
164 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs571728197 CA4046551 |
164 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571728197 CA4046550 |
164 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA150034317 rs752025572 |
164 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs373258012 CA366028781 |
168 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373258012 CA4046544 |
168 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4046546 rs35696295 |
168 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4046543 rs776802014 |
169 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs531898596 CA4046542 |
171 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531898596 CA4046541 |
171 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 171 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366028715 CA4046539 rs771989736 |
172 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4046540 rs773028300 |
172 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409249334 CA366028663 |
176 | D>E | No |
ClinGen gnomAD |
|
|
rs376892807 CA4046537 |
176 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366028641 rs1451406151 |
178 | G>E | No |
ClinGen gnomAD |
|
|
CA4046535 rs371776868 |
178 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190771817 CA366028623 |
180 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs892424181 CA150034234 |
181 | T>A | No |
ClinGen Ensembl |
|
|
CA366028605 rs1249916868 |
181 | T>S | No |
ClinGen TOPMed |
|
|
rs1477247718 CA366028594 |
182 | F>Y | No |
ClinGen gnomAD |
|
|
CA366028546 rs1248781694 |
185 | M>I | No |
ClinGen gnomAD |
|
|
CA150034233 rs755794444 |
185 | M>T | No |
ClinGen TOPMed |
|
|
COSM1698130 rs779800228 CA4046533 |
186 | V>I | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs906768155 CA150034222 |
187 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366028515 rs1206748096 |
188 | M>I | No |
ClinGen gnomAD |
|
|
rs367947532 CA4046531 |
188 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458203422 CA366028525 |
188 | M>V | No |
ClinGen TOPMed |
|
|
rs1046585526 CA150034217 |
190 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 191 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3662200 CA4046530 rs778154204 |
191 | C>Y | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366028443 rs1275273401 |
193 | S>N | No |
ClinGen gnomAD |
|
|
CA150034180 rs202219794 |
193 | S>R | No |
ClinGen 1000Genomes |
|
|
rs753139438 CA4046528 |
193 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs765630678 CA4046527 |
194 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs200021594 CA150034175 |
194 | W>G | No |
ClinGen 1000Genomes |
|
|
CA4046526 rs755287168 |
195 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366028421 rs1348631817 |
195 | L>I | No |
ClinGen gnomAD |
|
|
CA150034173 rs755287168 |
195 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA150034129 rs936495698 |
197 | D>E | No |
ClinGen Ensembl |
|
|
CA4046522 COSM3366319 rs773401265 |
197 | D>G | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760685893 CA366028393 |
197 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760685893 CA4046523 |
197 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366028350 rs1311528843 |
200 | M>T | No |
ClinGen TOPMed |
|
|
CA366028335 rs1472459372 |
201 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1192181336 CA366028338 |
201 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366028294 rs761853967 |
206 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA366028284 rs897613442 |
207 | E>K | No |
ClinGen TOPMed |
|
|
CA150034120 rs897613442 |
207 | E>Q | No |
ClinGen TOPMed |
|
|
CA366028260 rs1329092709 |
209 | T>A | No |
ClinGen TOPMed |
|
|
rs1175548325 CA366028168 |
210 | A>E | No |
ClinGen TOPMed |
|
|
rs1302504070 CA366028127 |
212 | P>H | No |
ClinGen gnomAD |
|
|
CA366028130 rs1179674087 |
212 | P>S | No |
ClinGen gnomAD |
|
|
rs139865016 CA4046503 |
214 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4046502 rs139865016 |
214 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4046504 rs756428625 |
214 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751573932 CA4046500 |
218 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs764053703 CA4046499 |
222 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4046498 rs762851206 |
223 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1310483909 CA366027956 |
224 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs150907952 CA4046497 |
224 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769470778 CA4046496 |
227 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1582864934 CA366027919 |
227 | T>P | No |
ClinGen Ensembl |
|
|
rs1381339101 CA366027902 |
228 | L>F | No |
ClinGen gnomAD |
|
|
CA366027898 rs1441043481 |
228 | L>P | No |
ClinGen TOPMed |
|
|
rs1582864924 CA366027880 |
229 | S>I | No |
ClinGen Ensembl |
|
|
rs1562519702 CA366027887 |
229 | S>R | No |
ClinGen Ensembl |
|
|
rs1337670488 CA366027865 |
230 | P>S | No |
ClinGen gnomAD |
|
|
CA366027768 rs1386697117 |
234 | L>V | No |
ClinGen gnomAD |
|
|
COSM1545096 rs1323012079 CA366027747 |
235 | I>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759272747 CA4046495 |
236 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4046494 rs776124788 |
237 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA4046493 rs756364055 |
240 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1436050936 CA366027515 |
244 | I>T | No |
ClinGen gnomAD |
|
|
rs1425046132 CA366027493 |
245 | I>C | No |
ClinGen gnomAD |
No associated diseases with Q9BZM4
1 regional properties for Q9BZM4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | MHC class I-like antigen recognition-like | 31 - 206 | IPR011161 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchored component of plasma membrane | The component of the plasma 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. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| natural killer cell lectin-like receptor binding | Binding to a lectin-like natural killer cell receptor. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| natural killer cell activation | The change in morphology and behavior of a natural killer cell in response to a cytokine, chemokine, cellular ligand, or soluble factor. |
| natural killer cell mediated cytotoxicity | The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAASPAIL | PRLAILPYLL | FDWSGTGRAD | AHSLWYNFTI | IHLPRHGQQW | CEVQSQVDQK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NFLSYDCGSD | KVLSMGHLEE | QLYATDAWGK | QLEMLREVGQ | RLRLELADTE | LEDFTPSGPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLQVRMSCEC | EADGYIRGSW | QFSFDGRKFL | LFDSNNRKWT | VVHAGARRMK | EKWEKDSGLT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TFFKMVSMRD | CKSWLRDFLM | HRKKRLEPTA | PPTMAPGLAQ | PKAIATTLSP | WSFLIILCFI |
| LPGI |