Q00653
SS
Gene name |
NFKB2 (LYT10) |
Protein name |
Nuclear factor NF-kappa-B p100 subunit |
Names |
DNA-binding factor KBF2, H2TF1, Lymphocyte translocation chromosome 10 protein, Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2, Oncogene Lyt-10, Lyt10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4791 |
EC number |
|
Protein Class |
|
Descriptions
NFκB1 is a nuclear factor NFκB p105 subunit (p50 and its precursor p105), and plays pivotal role in the regulation of the inflammatory response to pathogens, autoimmune diseases, and cancerous cells. The five members of the NF-κB family are normally kept inactive in the cytoplasm by interaction with inhibitors called IκBs or the unprocessed forms of NF-κB1 and NF-κB2. The C-terminal ankyrin repeats of p105 allow it to serve as an IkappaB-like function. The ankyrin repeats interact with and shield the nuclear localization signal located at the end of Rel-homology domain (RHD) domain and DNA binding of Rel/NF-kappaB complexes. RHD domain mediates DNA binding.
Autoinhibitory domains (AIDs)
Target domain |
35-224 (Rel-homology domain) |
Relief mechanism |
Cleavage, PTM |
Assay |
|
Accessory elements
No accessory elements
References
- Vallabhapurapu S et al. (2009) "Regulation and function of NF-kappaB transcription factors in the immune system", Annual review of immunology, 27, 693-733
- Perkins ND (2007) "Integrating cell-signalling pathways with NF-kappaB and IKK function", Nature reviews. Molecular cell biology, 8, 49-62
- Dorrington MG et al. (2019) "NF-κB Signaling in Macrophages: Dynamics, Crosstalk, and Signal Integration", Frontiers in immunology, 10, 705
- Heusch M et al. (1999) "The generation of nfkb2 p52: mechanism and efficiency", Oncogene, 18, 6201-8
- Savinova OV et al. (2009) "The Nfkb1 and Nfkb2 proteins p105 and p100 function as the core of high-molecular-weight heterogeneous complexes", Molecular cell, 34, 591-602
- Hatada EN et al. (1992) "The ankyrin repeat domains of the NF-kappa B precursor p105 and the protooncogene bcl-3 act as specific inhibitors of NF-kappa B DNA binding", Proceedings of the National Academy of Sciences of the United States of America, 89, 2489-93
Autoinhibited structure
Activated structure
10 structures for Q00653
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1A3Q | X-ray | 210 A | A/B | 37-327 | PDB |
| 2D96 | NMR | - | A | 766-859 | PDB |
| 3DO7 | X-ray | 305 A | B | 37-329 | PDB |
| 4OT9 | X-ray | 335 A | A | 407-765 | PDB |
| 5ZMC | X-ray | 299 A | A | 35-329 | PDB |
| 7CLI | X-ray | 300 A | A/B | 1-398 | PDB |
| 7VUP | X-ray | 340 A | A/B | 1-398 | PDB |
| 7VUQ | X-ray | 310 A | A/B | 1-398 | PDB |
| 7W7L | X-ray | 300 A | A/B | 1-327 | PDB |
| AF-Q00653-F1 | Predicted | AlphaFoldDB |
572 variants for Q00653
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000525183 CA5664426 VAR_022223 rs45581936 |
14 | E>K | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2061147687 RCV001322270 |
225 | A>missing | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2061155044 RCV001314723 |
298 | K>* | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853687 rs777777444 CA5664717 RCV000518977 |
354 | S>F | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747854969 CA5664724 RCV000533322 |
366 | G>D | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749068539 CA5664772 RCV001255966 |
395 | M>T | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780831146 CA5664785 RCV000702240 |
421 | A>V | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1405716353 CA377899283 RCV000651935 |
429 | T>S | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001329563 rs2061182778 |
433 | E>Q | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795565 CA377899417 rs1209220432 |
447 | N>S | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000494295 CA377901599 rs1131691948 RCV001851362 |
540 | T>M | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200227171 RCV000651937 CA5664884 |
579 | R>H | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651943 rs200092317 CA5664906 |
609 | R>Q | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA377902880 RCV000707583 rs757608785 |
631 | R>L | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001027608 rs748910652 CA5664917 |
635 | R>* | Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001246919 CA5664944 rs574309302 |
658 | R>Q | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001223842 rs200139098 CA5664953 |
665 | T>S | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5664996 rs376121715 RCV000888836 RCV001858556 |
705 | L>V | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1589870841 CA377904201 RCV000988444 |
716 | D>Y | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5665007 RCV000651939 rs199577673 |
723 | D>N | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1565213628 CA377905384 RCV000703883 |
778 | L>P | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209448 rs762058625 |
783 | D>E | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699120 CA5665066 rs367889547 |
784 | G>R | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1589873803 RCV000802139 |
848 | R>missing | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs727502786 RCV000150031 |
853 | R>missing | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000077760 RCV000055613 rs397514331 |
855 | K>missing | Immunodeficiency, common variable, 10 Immunodeficiency, common variable, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693767 rs1565214594 |
859 | T>missing | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371190206 RCV000540958 CA5665133 |
860 | A>G | Immunodeficiency, common variable, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000150032 VAR_074035 rs727502787 CA211926 |
865 | D>G | Immunodeficiency, common variable, 10 CVID10; unknown pathological significance; de novo mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074036 CA211929 RCV000150033 rs727502788 |
867 | A>V | Immunodeficiency, common variable, 10 CVID10; unknown pathological significance; de novo mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs778625681 CA5664399 |
3 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212211853 rs778625681 |
3 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664401 rs200361192 |
5 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455622222 CA377895695 |
5 | Y>H | No |
ClinGen gnomAD |
|
|
CA5664403 rs760413992 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs922475027 CA377895727 |
8 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs922475027 CA212213336 |
8 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1565204154 CA377895735 |
9 | L>P | No |
ClinGen Ensembl |
|
|
rs1167402841 CA377895740 |
10 | D>G | No |
ClinGen gnomAD |
|
|
CA5664427 rs762964415 |
15 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774734354 CA377895785 |
16 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377895815 rs1297472674 |
20 | L>F | No |
ClinGen gnomAD |
|
|
rs1424290307 CA377895814 |
20 | L>W | No |
ClinGen TOPMed |
|
|
CA377895818 rs1355876416 |
21 | N>D | No |
ClinGen gnomAD |
|
|
CA5664431 rs577190240 |
21 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867399655 CA212213357 |
24 | I>V | No |
ClinGen gnomAD |
|
|
rs1379133748 CA377895846 |
25 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1043473460 CA212213385 |
26 | E>Q | No |
ClinGen TOPMed |
|
|
rs902187555 CA212213387 |
27 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754657770 CA5664433 |
30 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377895885 rs1485873314 |
31 | A>G | No |
ClinGen TOPMed |
|
|
rs55877362 CA212213399 |
33 | E>K | No |
ClinGen Ensembl |
|
|
rs1243363991 CA377895906 |
35 | A>T | No |
ClinGen TOPMed |
|
|
rs745622070 CA5664460 |
41 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377895964 rs1396772862 |
42 | I>F | No |
ClinGen gnomAD |
|
|
rs755916743 CA5664462 |
48 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779680880 CA5664483 |
52 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1337105771 CA377896056 |
54 | R>* | No |
ClinGen gnomAD |
|
|
CA5664486 rs779223172 |
57 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA377896086 rs1438313272 |
58 | E>G | No |
ClinGen gnomAD |
|
|
CA377896111 rs1589859255 |
62 | H>P | No |
ClinGen Ensembl |
|
|
rs1165226340 CA377896141 |
67 | G>S | No |
ClinGen gnomAD |
|
|
CA377896149 rs1419527441 |
68 | A>V | No |
ClinGen gnomAD |
|
|
CA212213837 rs774802098 |
74 | R>Q | No |
ClinGen gnomAD |
|
|
CA212213838 rs202041815 |
77 | Y>F | No |
ClinGen 1000Genomes |
|
|
rs1451149894 CA377896225 |
80 | V>I | No |
ClinGen TOPMed |
|
|
CA377896282 rs200369413 |
86 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5664503 rs200369413 |
86 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1369213686 CA377896295 |
88 | P>A | No |
ClinGen gnomAD |
|
|
CA377896303 rs1242603464 |
89 | A>V | No |
ClinGen TOPMed |
|
|
CA377896360 rs1589859604 |
98 | H>N | No |
ClinGen Ensembl |
|
|
rs1589859611 CA377896383 |
100 | D>E | No |
ClinGen Ensembl |
|
|
CA377896390 rs1357695101 |
102 | P>T | No |
ClinGen gnomAD |
|
|
CA377896398 rs1413174692 |
103 | R>C | No |
ClinGen gnomAD |
|
|
CA5664505 rs779214476 |
103 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs758763622 CA5664507 |
115 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781738940 CA5664511 |
121 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335608284 CA377896522 |
122 | V>I | No |
ClinGen TOPMed |
|
|
rs1199544226 CA377896533 |
123 | S>F | No |
ClinGen gnomAD |
|
|
rs746381549 CA5664532 |
135 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA377896643 rs1236473029 |
138 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1172912604 CA377896687 |
144 | K>N | No |
ClinGen TOPMed |
|
|
CA5664536 rs771669919 |
144 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA212214260 rs377480135 |
146 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1255524060 CA377896714 |
148 | G>R | No |
ClinGen gnomAD |
|
|
rs772852394 CA5664537 |
150 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1177479814 CA377896730 |
150 | M>T | No |
ClinGen TOPMed |
|
|
rs1428665415 CA377896728 |
150 | M>V | No |
ClinGen TOPMed |
|
|
rs746443560 CA5664538 |
155 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1056064531 CA212214284 |
158 | R>Q | No |
ClinGen gnomAD |
|
|
CA5664540 rs776075705 |
158 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370999183 CA5664542 |
160 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5664543 rs775379081 |
160 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377896803 rs1348141981 |
161 | S>C | No |
ClinGen gnomAD |
|
|
CA377896813 rs1435681532 |
163 | P>T | No |
ClinGen gnomAD |
|
|
rs751821885 CA5664548 |
167 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA5664549 rs757478595 |
168 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1358464074 CA377896868 |
170 | E>K | No |
ClinGen TOPMed |
|
|
CA377896887 rs779769505 |
172 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779769505 CA5664589 |
172 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377896885 rs1313427478 |
172 | R>W | No |
ClinGen TOPMed |
|
|
rs768524479 CA5664591 |
175 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664593 rs761541964 |
180 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA377896945 rs1362312596 |
181 | L>M | No |
ClinGen gnomAD |
|
|
CA377896948 rs1226883971 |
181 | L>P | No |
ClinGen gnomAD |
|
|
rs1362312596 CA377896946 |
181 | L>V | No |
ClinGen gnomAD |
|
|
CA377896965 rs367930950 |
183 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772267916 CA5664594 |
184 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1052319685 CA212214544 |
185 | M>T | No |
ClinGen TOPMed |
|
|
rs1303859735 CA377896986 |
186 | D>E | No |
ClinGen Ensembl |
|
|
CA377896995 rs1565206079 |
188 | S>N | No |
ClinGen Ensembl |
|
|
rs773316814 CA5664595 |
189 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1356505449 CA377897006 |
190 | V>L | No |
ClinGen gnomAD |
|
|
rs760942132 CA5664596 |
191 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1408678810 CA377897023 |
193 | R>C | No |
ClinGen TOPMed |
|
|
rs1192238490 CA377897028 |
194 | F>L | No |
ClinGen TOPMed |
|
|
CA5664598 rs200567741 |
195 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA212214606 rs749951970 |
200 | A>T | No |
ClinGen Ensembl |
|
|
rs1196827028 CA377897075 |
201 | S>N | No |
ClinGen TOPMed |
|
|
CA377897110 rs1455472599 |
206 | S>P | No |
ClinGen gnomAD |
|
|
CA377897117 rs1589861206 |
207 | L>P | No |
ClinGen Ensembl |
|
|
rs1170578464 CA377897121 |
208 | P>S | No |
ClinGen gnomAD |
|
|
CA5664603 rs767141765 |
210 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA212214641 rs3188993 |
213 | I>T | No |
ClinGen Ensembl |
|
|
CA212214653 rs1056054668 |
220 | S>N | No |
ClinGen Ensembl |
|
|
CA377897291 rs1412909287 |
232 | R>Q | No |
ClinGen gnomAD |
|
|
rs552769396 CA5664629 |
235 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1249247840 CA377897323 |
236 | T>I | No |
ClinGen gnomAD |
|
|
CA5664630 rs777519001 |
237 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772667682 CA212214972 |
241 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1369716464 CA377897348 |
241 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs368808361 CA5664631 |
246 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377897417 rs1310245247 |
251 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377897418 rs1310245247 |
251 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1015933858 CA212215062 |
258 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779976980 CA377897490 |
259 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664654 rs749416316 |
260 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA377897499 rs1482075423 |
261 | R>Q | No |
ClinGen gnomAD |
|
|
CA5664655 RCV000658578 rs769218279 |
261 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1302384562 CA377897535 |
266 | D>Y | No |
ClinGen Ensembl |
|
|
rs1199472420 CA377897609 |
276 | F>L | No |
ClinGen gnomAD |
|
|
CA5664656 rs775010652 |
279 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs762466376 CA5664657 |
279 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs370761973 CA212215067 |
280 | D>N | No |
ClinGen ESP |
|
|
CA377897649 rs1449301910 |
282 | H>R | No |
ClinGen gnomAD |
|
|
rs1477621144 CA377897699 |
287 | I>T | No |
ClinGen TOPMed |
|
|
CA212215159 rs11550592 |
290 | R>L | No |
ClinGen Ensembl |
|
|
CA377897766 rs1157043951 |
297 | M>T | No |
ClinGen gnomAD |
|
|
CA377897793 rs1387930147 |
300 | E>D | No |
ClinGen gnomAD |
|
|
rs1458368934 CA377897796 |
301 | R>Q | No |
ClinGen gnomAD |
|
|
rs779197903 CA5664677 |
302 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377897855 rs1267070091 |
310 | K>N | No |
ClinGen TOPMed |
|
|
RCV000788971 rs1210989352 CA377897857 |
311 | R>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1565207233 CA377897870 RCV000760941 |
313 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs774883942 CA212215206 |
317 | V>M | No |
ClinGen Ensembl |
|
|
rs1226118910 CA377897925 |
321 | K>R | No |
ClinGen gnomAD |
|
|
CA377898009 rs1169085156 |
331 | D>E | No |
ClinGen gnomAD |
|
|
CA5664706 rs773804140 |
332 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA377898038 rs1268417378 |
335 | V>A | No |
ClinGen gnomAD |
|
|
rs767297897 CA5664708 |
337 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377898049 rs1440192713 |
337 | R>W | No |
ClinGen TOPMed |
|
|
rs577356334 CA5664709 |
339 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766164122 CA5664711 |
341 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5664712 rs753731962 |
342 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA377898078 rs753731962 |
342 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5664713 rs755200232 |
342 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1306758024 CA377898100 |
345 | T>I | No |
ClinGen TOPMed |
|
|
rs752760888 CA5664715 |
350 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212215360 VAR_022224 rs45580031 |
351 | G>R | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA5664716 rs45580031 |
351 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1589863410 CA377898143 |
352 | G>D | No |
ClinGen Ensembl |
|
|
rs1214959232 CA377898150 |
353 | G>A | No |
ClinGen gnomAD |
|
|
CA5664718 rs747550675 |
355 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377898163 rs1482942916 |
355 | H>Q | No |
ClinGen gnomAD |
|
|
CA377898158 rs747550675 |
355 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757746385 CA377898167 |
356 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664719 rs757746385 |
356 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664720 rs781598288 |
359 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1335157235 CA377898192 |
360 | S>F | No |
ClinGen TOPMed |
|
|
rs1383291468 CA377898204 |
362 | G>D | No |
ClinGen TOPMed |
|
|
CA5664721 rs746255458 |
364 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1425541702 CA377898218 |
365 | G>R | No |
ClinGen gnomAD |
|
|
rs1425541702 CA377898220 |
365 | G>W | No |
ClinGen gnomAD |
|
|
CA377898239 rs1321875454 |
368 | G>E | No |
ClinGen gnomAD |
|
|
CA212215388 rs934745953 |
368 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1179164021 CA377898574 |
373 | G>A | No |
ClinGen TOPMed |
|
|
CA212215638 rs866971516 |
374 | G>D | No |
ClinGen Ensembl |
|
|
CA377898589 rs1474074009 |
376 | L>F | No |
ClinGen gnomAD |
|
|
rs964881869 CA212215639 |
377 | G>A | No |
ClinGen TOPMed |
|
|
CA377898614 rs920445238 |
379 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377898621 rs1170781387 |
380 | P>L | No |
ClinGen gnomAD |
|
|
rs1430785222 CA377898618 |
380 | P>S | No |
ClinGen gnomAD |
|
|
rs780374576 CA5664762 |
381 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377898636 rs1334945462 |
383 | L>P | No |
ClinGen gnomAD |
|
|
CA5664763 rs754172731 |
384 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377898643 rs1445772703 |
385 | Y>N | No |
ClinGen gnomAD |
|
|
rs1314254295 CA377898677 |
387 | P>L | No |
ClinGen gnomAD |
|
|
CA5664765 rs758025082 |
388 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664764 rs758025082 |
388 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664766 rs746467194 |
389 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377898724 rs1338345548 |
390 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1338345548 CA377898727 |
390 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs551547169 CA5664767 |
391 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs11574848 CA212215674 VAR_051781 |
392 | A>G | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780918964 CA5664768 |
392 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs11574848 CA5664769 |
392 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377898784 rs1170884782 |
394 | P>L | No |
ClinGen gnomAD |
|
|
rs1461691110 CA377898792 |
395 | M>L | No |
ClinGen gnomAD |
|
|
CA377898813 rs1261562267 |
396 | G>D | No |
ClinGen gnomAD |
|
|
rs1293584084 CA377898823 |
397 | C>R | No |
ClinGen Ensembl |
|
|
CA377898826 rs1379362423 |
397 | C>Y | No |
ClinGen TOPMed |
|
|
CA5664773 rs768859143 |
398 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1589864870 CA377898839 |
398 | Y>H | No |
ClinGen Ensembl |
|
|
rs768859143 CA377898844 |
398 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1437102591 CA377898863 |
399 | P>Q | No |
ClinGen gnomAD |
|
|
CA377898860 rs1365828551 |
399 | P>S | No |
ClinGen gnomAD |
|
|
CA212215736 rs774451298 |
400 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5664774 rs774451298 |
400 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA377898894 rs1325603094 |
401 | G>D | No |
ClinGen gnomAD |
|
|
rs1397973787 CA377898888 |
401 | G>R | No |
ClinGen TOPMed |
|
|
rs1196020729 CA377898904 |
402 | G>R | No |
ClinGen gnomAD |
|
|
CA377898915 rs1233575392 |
403 | G>S | No |
ClinGen gnomAD |
|
|
CA377898926 rs1255811189 |
403 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1257376973 CA377898928 |
404 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5664777 rs773329863 |
405 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212215745 rs767551814 |
405 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664776 rs767551814 |
405 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377898954 rs773329863 |
405 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377898985 rs1191008565 |
407 | M>T | No |
ClinGen gnomAD |
|
|
rs761117769 CA5664778 |
409 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1428255171 CA377899013 |
409 | A>T | No |
ClinGen gnomAD |
|
|
CA5664779 rs766897856 |
410 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1175800328 CA377899032 |
410 | T>M | No |
ClinGen gnomAD |
|
|
CA212215758 rs536820110 |
412 | P>S | No |
ClinGen 1000Genomes |
|
|
CA377899077 rs754161972 |
413 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5664780 rs754161972 |
413 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA377899084 rs1191756779 |
414 | R>K | No |
ClinGen TOPMed |
|
|
rs1387126836 CA377899136 |
417 | G>R | No |
ClinGen gnomAD |
|
|
rs1343261289 CA377899171 |
418 | E>D | No |
ClinGen gnomAD |
|
|
rs1222461329 CA377899177 |
419 | E>* | No |
ClinGen gnomAD |
|
|
rs751170175 CA5664783 |
420 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA377899194 rs1288456438 |
420 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751170175 CA377899202 |
420 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377899214 rs1211166977 |
421 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA377899224 rs1485779239 |
422 | E>K | No |
ClinGen gnomAD |
|
|
rs1479584792 CA377899248 |
423 | P>L | No |
ClinGen gnomAD |
|
|
CA5664787 rs756080515 |
423 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA377899254 rs1243512603 |
424 | S>I | No |
ClinGen TOPMed |
|
|
rs749056816 CA5664789 |
424 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768330336 CA5664790 |
425 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA377899271 rs1156913460 |
427 | S>Y | No |
ClinGen gnomAD |
|
|
rs1363156566 CA377899280 |
428 | R>S | No |
ClinGen gnomAD |
|
|
CA377899282 rs1405716353 |
429 | T>A | No |
ClinGen TOPMed |
|
|
CA377899284 rs1458287262 |
429 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA377899281 rs1405716353 |
429 | T>P | No |
ClinGen TOPMed |
|
|
CA5664793 rs552593555 |
430 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202001697 CA5664792 |
430 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866800704 CA377899298 |
431 | Q>H | No |
ClinGen TOPMed |
|
|
CA377899291 rs1351849884 |
431 | Q>K | No |
ClinGen gnomAD |
|
|
rs1024428958 CA212215800 |
434 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1305578329 CA377899315 |
434 | P>T | No |
ClinGen gnomAD |
|
|
CA377899335 rs1489953740 |
437 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1565209248 CA377899356 |
439 | M>I | No |
ClinGen Ensembl |
|
|
CA377899369 rs1175561541 |
441 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377899396 rs1312906894 |
444 | R>P | No |
ClinGen gnomAD |
|
|
rs371864445 CA5664803 |
445 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs923455527 CA212215901 |
446 | Y>N | No |
ClinGen gnomAD |
|
|
rs556745329 CA377899419 |
447 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474284997 CA377899420 |
448 | A>T | No |
ClinGen gnomAD |
|
|
rs779674287 CA5664805 |
448 | A>V | No |
ClinGen ExAC |
|
|
CA377899427 rs1185633371 |
449 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA377899429 rs1425430729 |
449 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1173657529 CA377899442 |
451 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
VAR_022225 rs45471103 CA212215936 |
452 | G>R | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA377899444 rs45471103 |
452 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1321775922 CA377899454 |
454 | A>T | No |
ClinGen gnomAD |
|
|
rs1347367905 CA377899458 |
454 | A>V | No |
ClinGen gnomAD |
|
|
CA5664807 rs754990357 |
456 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377899472 rs1269898645 |
456 | R>L | No |
ClinGen gnomAD |
|
|
CA377899476 rs1225521219 |
457 | S>N | No |
ClinGen gnomAD |
|
|
CA377899475 rs1589865861 |
457 | S>R | No |
ClinGen Ensembl |
|
|
rs1281477332 CA377899481 |
458 | A>T | No |
ClinGen gnomAD |
|
|
CA377899487 rs1436073527 |
459 | R>G | No |
ClinGen TOPMed |
|
|
CA212215956 rs944458269 |
459 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5664808 rs778522439 |
460 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA377899511 rs1247010458 |
463 | D>G | No |
ClinGen gnomAD |
|
|
rs1214810933 CA377899507 |
463 | D>N | No |
ClinGen gnomAD |
|
|
rs1490746115 CA377899523 |
465 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA377899525 rs1490746115 |
465 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1428041403 CA377899529 |
466 | V>I | No |
ClinGen gnomAD |
|
|
CA5664811 rs772211653 |
469 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565209716 CA377899551 |
469 | D>G | No |
ClinGen Ensembl |
|
|
rs777981741 CA5664812 |
470 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1318086074 CA377899560 |
471 | R>C | No |
ClinGen gnomAD |
|
|
rs747286988 CA5664813 |
472 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA377899580 rs1362674189 |
475 | A>T | No |
ClinGen gnomAD |
|
|
CA377899585 rs1482556968 |
475 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377899602 rs1281290020 |
478 | R>C | No |
ClinGen gnomAD |
|
|
rs1277665855 CA377899608 |
479 | H>Y | No |
ClinGen TOPMed |
|
|
CA377899628 rs1589866113 |
482 | T>M | No |
ClinGen Ensembl |
|
|
rs1054755969 CA212215989 |
482 | T>P | No |
ClinGen TOPMed |
|
|
CA377899647 rs1589866138 |
485 | D>G | No |
ClinGen Ensembl |
|
|
CA377899643 rs1348472521 |
485 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1223095913 CA377899665 RCV000788879 |
487 | N>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5664815 rs776815556 |
488 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1361296525 CA377899682 |
490 | T>S | No |
ClinGen gnomAD |
|
|
rs1462716395 CA377899714 |
493 | H>Q | No |
ClinGen gnomAD |
|
|
rs1018837336 CA212216190 |
499 | G>R | No |
ClinGen TOPMed |
|
|
CA377899770 rs1347832182 |
502 | S>G | No |
ClinGen gnomAD |
|
|
CA5664832 rs771237410 |
504 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173613931 CA377899792 |
505 | E>G | No |
ClinGen TOPMed |
|
|
CA5664833 rs781087102 |
506 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377899804 rs1589867038 |
507 | I>V | No |
ClinGen Ensembl |
|
|
rs745994881 CA377899810 |
508 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745994881 CA5664834 |
508 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974568388 CA212216205 |
509 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs371733126 CA212216215 |
510 | V>D | No |
ClinGen ESP TOPMed |
|
|
rs990850346 CA212216229 |
515 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5664837 rs763614024 |
516 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs916599971 CA212216235 |
518 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA377899972 rs1268022302 |
519 | V>L | No |
ClinGen gnomAD |
|
|
CA5664840 rs760195291 |
520 | V>I | No |
ClinGen ExAC |
|
|
rs201576770 CA5664842 |
521 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA212216262 rs200575158 |
522 | L>I | No |
ClinGen Ensembl |
|
|
rs368941752 CA212216263 |
525 | H>Y | No |
ClinGen ESP |
|
|
rs764708514 CA5664844 |
527 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764708514 CA5664845 |
527 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664858 rs748550134 |
529 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1431587264 CA377901540 |
530 | P>L | No |
ClinGen gnomAD |
|
|
rs759174968 CA5664861 |
534 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5664863 rs775033524 |
535 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212217676 rs1055869240 |
537 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1055869240 CA377901580 |
537 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1310195093 CA377901601 |
541 | S>R | No |
ClinGen TOPMed |
|
|
CA5664869 rs548802737 |
541 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1397494683 CA377901613 |
542 | V>A | No |
ClinGen gnomAD |
|
|
rs1318060041 CA377901624 |
544 | S>T | No |
ClinGen gnomAD |
|
|
CA377901662 rs1241740058 |
547 | L>R | No |
ClinGen gnomAD |
|
|
CA5664870 rs756333196 |
548 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs201353619 CA5664871 |
548 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201353619 CA377901672 |
548 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565210752 CA377901684 |
549 | V>L | No |
ClinGen Ensembl |
|
|
rs900850860 CA212217691 |
553 | P>L | No |
ClinGen Ensembl |
|
|
CA212217715 rs1047108117 |
555 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA377901786 rs1489898837 |
557 | D>Y | No |
ClinGen gnomAD |
|
|
CA377901815 rs1251274851 |
558 | R>Q | No |
ClinGen gnomAD |
|
|
rs1384243168 CA377901843 |
560 | G>R | No |
ClinGen TOPMed |
|
|
CA377901863 rs1363062258 |
561 | D>H | No |
ClinGen gnomAD |
|
|
CA377901865 rs1363062258 |
561 | D>N | No |
ClinGen gnomAD |
|
|
rs1165161781 CA377901891 |
562 | S>L | No |
ClinGen gnomAD |
|
|
CA5664874 rs534606952 |
562 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377901909 rs1366762881 |
564 | M>V | No |
ClinGen TOPMed |
|
|
CA5664875 rs199841036 |
567 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423547763 CA377901965 |
569 | R>Q | No |
ClinGen gnomAD |
|
|
rs745514664 CA5664879 |
570 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212217742 rs997689416 |
572 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774941850 CA5664881 |
572 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377901993 rs997689416 |
572 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1306352625 CA377902019 |
574 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1247168878 CA377902015 |
574 | A>S | No |
ClinGen gnomAD |
|
|
CA377902024 rs1294313949 |
575 | P>S | No |
ClinGen gnomAD |
|
|
rs1306109565 CA377902040 |
576 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1306109565 CA377902042 |
576 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763966838 CA377902085 |
579 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs763966838 CA5664883 |
579 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs373398471 CA212217755 |
580 | A>G | No |
ClinGen ESP |
|
|
rs1175473569 CA377902114 |
581 | L>P | No |
ClinGen gnomAD |
|
|
rs1175473569 CA377902111 |
581 | L>Q | No |
ClinGen gnomAD |
|
|
rs1589867877 CA377902109 |
581 | L>V | No |
ClinGen Ensembl |
|
|
CA377902124 rs1589867900 |
582 | L>F | No |
ClinGen Ensembl |
|
|
rs902680352 CA212217761 |
583 | Q>R | No |
ClinGen Ensembl |
|
|
rs1008228774 CA212217765 |
584 | S>T | No |
ClinGen TOPMed |
|
|
CA377902226 rs1249733559 |
588 | A>V | No |
ClinGen gnomAD |
|
|
CA377902238 rs1445098332 |
589 | V>A | No |
ClinGen gnomAD |
|
|
rs1185216707 CA377902247 |
590 | P>S | No |
ClinGen gnomAD |
|
|
rs767315544 CA5664886 |
591 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375798485 CA5664885 |
591 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1460012854 CA377902304 |
594 | H>D | No |
ClinGen gnomAD |
|
|
rs538227530 CA5664888 |
594 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377902340 rs1325616355 |
595 | M>I | No |
ClinGen TOPMed |
|
|
CA377902344 rs1296255021 |
596 | P>A | No |
ClinGen TOPMed |
|
|
CA377902365 rs1400216018 |
599 | E>K | No |
ClinGen gnomAD |
|
|
CA5664903 rs200750908 |
601 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377902488 rs1185541769 |
603 | P>L | No |
ClinGen gnomAD |
|
|
rs1429441414 CA377902544 |
607 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1589868515 CA377902558 |
608 | V>G | No |
ClinGen Ensembl |
|
|
rs1427824703 CA377902569 |
610 | A>T | No |
ClinGen gnomAD |
|
|
CA377902587 rs1414346574 |
611 | R>* | No |
ClinGen gnomAD |
|
|
rs766330104 CA5664907 |
611 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377902597 rs1347281583 |
612 | S>N | No |
ClinGen gnomAD |
|
|
CA5664909 rs202210846 |
614 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5664908 rs202210846 |
614 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1304447423 CA377902672 |
617 | D>G | No |
ClinGen Ensembl |
|
|
rs1360495381 CA377902684 |
618 | L>M | No |
ClinGen gnomAD |
|
|
rs765336822 CA5664910 |
622 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942415314 CA212217839 |
622 | S>T | No |
ClinGen gnomAD |
|
|
CA377902754 rs1344236099 |
623 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1286121409 CA377902766 |
624 | A>T | No |
ClinGen gnomAD |
|
|
rs1250791910 CA377902780 |
625 | E>K | No |
ClinGen TOPMed |
|
|
CA377902829 rs778148267 |
628 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664913 rs778148267 |
628 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377902851 rs1269152218 |
629 | T>I | No |
ClinGen gnomAD |
|
|
CA5664915 rs757608785 |
631 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA212217855 rs1055944511 |
631 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5664918 rs768349324 |
635 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366431397 CA377903027 |
639 | H>Y | No |
ClinGen gnomAD |
|
|
rs1350176783 CA377903048 |
640 | L>V | No |
ClinGen TOPMed |
|
|
rs1370997096 CA377903324 |
651 | T>I | No |
ClinGen gnomAD |
|
|
CA377903340 rs1292161950 |
652 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5664943 rs200373995 |
658 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5664946 rs770000992 |
660 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664948 rs369505509 |
661 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759662244 CA5664950 |
663 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377903732 rs759662244 |
663 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762260947 CA5664952 |
664 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417074680 CA377903761 |
664 | R>H | No |
ClinGen TOPMed |
|
|
rs762260947 CA5664951 |
664 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664954 rs756417173 |
667 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758117303 CA5664958 |
671 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5664957 rs758117303 |
671 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs534798728 CA5664959 |
681 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383601570 CA377903992 |
685 | R>C | No |
ClinGen gnomAD |
|
|
CA377904009 rs1339361729 |
688 | L>V | No |
ClinGen gnomAD |
|
|
CA377904063 rs1298178977 |
694 | I>T | No |
ClinGen gnomAD |
|
|
CA5664990 rs773328166 |
695 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5664989 rs772105180 |
695 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771498981 CA5664992 |
696 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5664991 rs377677859 |
696 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1237396659 CA377904150 |
708 | P>A | No |
ClinGen gnomAD |
|
|
rs761599377 CA377904156 |
709 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377904155 rs761599377 |
709 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5664998 rs761599377 |
709 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422816307 CA377904163 |
710 | T>N | No |
ClinGen gnomAD |
|
|
CA5664999 rs368533449 |
711 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5665001 rs371867635 |
713 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467678334 CA377904188 |
714 | D>Y | No |
ClinGen gnomAD |
|
|
rs527505889 CA212218310 |
715 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377904195 rs1329878230 |
715 | S>P | No |
ClinGen gnomAD |
|
|
rs754760858 CA5665004 |
718 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA212218330 rs761793192 |
719 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1395629667 CA377904220 |
719 | G>R | No |
ClinGen gnomAD |
|
|
rs748344143 CA377904229 |
720 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5665006 rs748344143 |
720 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1257342953 CA377904230 |
721 | E>K | No |
ClinGen gnomAD |
|
|
rs932668046 CA212218340 |
722 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377904248 rs1285664613 |
723 | D>G | No |
ClinGen gnomAD |
|
|
CA377904258 rs747113965 |
725 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747113965 CA5665009 |
725 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374942288 CA5665010 |
725 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222717062 CA377904281 |
728 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201099063 CA5665012 |
729 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377904286 rs1263281780 |
729 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs770252946 CA5665013 |
732 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761513486 CA5665015 |
734 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416147155 CA377904377 |
736 | L>F | No |
ClinGen TOPMed |
|
|
rs1366731609 CA377904567 |
744 | T>N | No |
ClinGen gnomAD |
|
|
CA212218437 rs775492355 |
747 | L>Q | No |
ClinGen Ensembl |
|
|
CA212218440 rs201438628 |
748 | N>D | No |
ClinGen 1000Genomes |
|
|
rs200872511 CA212218443 |
748 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs200872511 CA377904642 |
748 | N>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA377904669 rs1351094079 |
749 | A>V | No |
ClinGen gnomAD |
|
|
rs41293042 CA5665037 |
750 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377904710 rs1291930503 |
751 | Q>R | No |
ClinGen gnomAD |
|
|
CA377904752 rs1589871523 |
753 | T>P | No |
ClinGen Ensembl |
|
|
CA377904790 rs1589871548 |
754 | M>I | No |
ClinGen Ensembl |
|
|
CA377904768 rs1452818380 |
754 | M>L | No |
ClinGen gnomAD |
|
|
CA5665038 rs760283182 |
754 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377904838 rs1565213211 |
756 | P>Q | No |
ClinGen Ensembl |
|
|
rs776137869 CA5665040 |
757 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759429094 CA5665041 |
760 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366338093 CA377904923 |
761 | P>S | No |
ClinGen gnomAD |
|
|
CA377904953 rs899733509 |
762 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1321598091 CA377904990 |
764 | A>V | No |
ClinGen gnomAD |
|
|
CA212218648 rs535059248 |
766 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377905164 rs1198425449 |
767 | G>R | No |
ClinGen gnomAD |
|
|
CA5665060 rs759059168 |
770 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5665059 rs759059168 |
770 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252213595 CA377905360 |
777 | N>S | No |
ClinGen TOPMed |
|
|
CA377905358 rs1252213595 |
777 | N>T | No |
ClinGen TOPMed |
|
|
rs201232602 CA5665061 |
778 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377905400 rs1237033154 |
779 | E>G | No |
ClinGen gnomAD |
|
|
CA5665063 rs763926889 |
779 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377905433 rs1478185551 |
780 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751333753 CA5665064 |
783 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377905504 rs367889547 |
784 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377905524 rs1404051917 |
785 | P>A | No |
ClinGen gnomAD |
|
|
CA377905522 rs1404051917 |
785 | P>S | No |
ClinGen gnomAD |
|
|
CA377905519 rs1404051917 |
785 | P>T | No |
ClinGen gnomAD |
|
|
CA5665068 rs756252511 |
793 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1333082639 CA377905698 |
795 | A>T | No |
ClinGen gnomAD |
|
|
CA5665069 rs780318066 |
797 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114461415 CA5665070 |
797 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377905742 rs1275695903 |
799 | G>E | No |
ClinGen gnomAD |
|
|
rs371174743 CA5665071 |
801 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779292652 CA5665072 |
801 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989583640 CA212218708 |
805 | D>E | No |
ClinGen TOPMed |
|
|
rs954159052 CA212218706 |
805 | D>G | No |
ClinGen TOPMed |
|
|
rs770557048 CA5665074 |
805 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5665075 rs746087341 |
806 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195958135 CA377905792 |
808 | R>* | No |
ClinGen gnomAD |
|
|
rs1261067166 CA377905793 |
808 | R>Q | No |
ClinGen gnomAD |
|
|
CA377905811 rs1477476002 |
811 | T>A | No |
ClinGen gnomAD |
|
|
rs745585540 CA5665076 |
811 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377905830 rs1379214298 |
814 | S>N | No |
ClinGen gnomAD |
|
|
CA5665078 rs775029821 |
816 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs374041971 CA5665081 RCV000788459 |
819 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs761531554 CA5665082 |
819 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5665084 rs573048246 |
820 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377905892 rs1274576794 |
822 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA377905967 rs1433762594 |
824 | A>S | No |
ClinGen TOPMed |
|
|
CA377905996 rs1449475844 |
826 | G>E | No |
ClinGen gnomAD |
|
|
rs1401571962 CA377905989 |
826 | G>R | No |
ClinGen gnomAD |
|
|
CA212218797 rs545655588 |
827 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766709257 CA5665105 |
831 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA377906066 rs1260304888 |
833 | E>G | No |
ClinGen gnomAD |
|
|
CA377906089 rs1314989770 |
835 | L>P | No |
ClinGen gnomAD |
|
|
rs759518899 CA5665107 |
838 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1417358411 CA377906162 |
842 | E>K | No |
ClinGen TOPMed |
|
|
rs1028540366 CA212218807 |
843 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1196550504 CA377906172 |
843 | G>R | No |
ClinGen gnomAD |
|
|
CA377906174 rs1028540366 |
843 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377906179 rs1450204584 |
844 | V>A | No |
ClinGen TOPMed |
|
|
CA377906180 rs1450204584 |
844 | V>G | No |
ClinGen TOPMed |
|
|
CA5665110 rs368799218 |
848 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373030358 CA5665111 |
850 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1422727916 CA377906210 |
850 | P>S | No |
ClinGen gnomAD |
|
|
rs1236495469 CA377906217 |
851 | E>* | No |
ClinGen gnomAD |
|
|
CA377906216 rs1236495469 |
851 | E>Q | No |
ClinGen gnomAD |
|
|
CA377906228 rs1565214450 |
852 | T>S | No |
ClinGen Ensembl |
|
|
rs397514332 CA144753 |
853 | R>* | No |
ClinGen gnomAD |
|
|
rs397514332 CA377906229 |
853 | R>G | No |
ClinGen gnomAD |
|
|
rs377577926 CA5665112 |
853 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377906233 rs1377165366 |
854 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377906247 rs1414258627 |
855 | K>N | No |
ClinGen gnomAD |
|
|
CA5665113 rs755697703 |
857 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867668703 CA212218839 |
858 | S>N | No |
ClinGen Ensembl |
|
|
CA5665134 rs754678479 |
861 | E>* | No |
ClinGen ExAC |
|
|
rs1208172663 CA377906299 |
862 | V>L | No |
ClinGen TOPMed |
|
|
CA377906308 rs1589874753 |
863 | K>T | No |
ClinGen Ensembl |
|
|
CA377906332 rs1565215008 |
866 | S>N | No |
ClinGen Ensembl |
|
|
CA212218924 rs866364850 |
869 | G>R | No |
ClinGen gnomAD |
|
|
CA16618923 RCV000484648 rs1064795232 |
870 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA212218936 rs866997446 |
875 | Q>K | No |
ClinGen Ensembl |
|
|
CA212218938 rs3204369 |
876 | E>K | No |
ClinGen Ensembl |
|
|
rs1222725890 CA377906404 |
877 | A>S | No |
ClinGen gnomAD |
|
|
CA377906402 rs1222725890 |
877 | A>T | No |
ClinGen gnomAD |
|
|
CA377906414 rs1289923571 |
878 | E>D | No |
ClinGen gnomAD |
|
|
CA377906412 rs1310962080 |
878 | E>G | No |
ClinGen TOPMed |
|
|
CA377906420 rs1322894470 |
879 | K>R | No |
ClinGen gnomAD |
|
|
rs1224394326 CA377906431 |
881 | G>D | No |
ClinGen gnomAD |
|
|
rs111487388 CA212218942 |
881 | G>R | No |
ClinGen Ensembl |
|
|
rs891006899 CA212218944 |
882 | P>A | No |
ClinGen Ensembl |
|
|
CA377906437 rs867682101 |
882 | P>L | No |
ClinGen gnomAD |
|
|
CA212218948 rs867682101 |
882 | P>Q | No |
ClinGen gnomAD |
|
|
CA212218949 rs373437396 |
883 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1468314000 CA377906440 |
883 | P>S | No |
ClinGen gnomAD |
|
|
rs752257888 CA5665136 |
884 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752257888 CA377906444 |
884 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377906463 rs1468754412 |
887 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1468754412 CA377906462 |
887 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1158105301 CA377906484 |
890 | L>P | No |
ClinGen gnomAD |
|
|
rs1411498190 CA377906487 |
891 | C>R | No |
ClinGen TOPMed |
|
|
rs777839462 CA5665138 |
893 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162584480 CA377906509 |
894 | H>Y | No |
ClinGen gnomAD |
|
|
rs747008394 CA5665139 |
895 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377906525 rs1333059741 |
896 | Q>R | No |
ClinGen gnomAD |
|
|
rs770818840 CA5665140 |
897 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377906535 rs1589875259 |
898 | Q>* | No |
ClinGen Ensembl |
|
|
rs1284325875 CA377906544 |
899 | V>A | No |
ClinGen gnomAD |
|
|
rs781089501 CA5665141 |
899 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1256075283 CA377906550 |
900 | H>R | No |
ClinGen TOPMed |
|
|
CA377906548 rs1380685648 |
900 | H>Y | No |
ClinGen gnomAD |
4 associated diseases with Q00653
[MIM: 615577]: Immunodeficiency, common variable, 10 (CVID10)
A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency. {ECO:0000269|PubMed:24140114, ECO:0000269|PubMed:25524009}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency. {ECO:0000269|PubMed:24140114, ECO:0000269|PubMed:25524009}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q00653
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ras-like guanine nucleotide exchange factor, N-terminal | 3 - 126 | IPR000651 |
| domain | Ras guanine-nucleotide exchange factors catalytic domain | 150 - 388 | IPR001895 |
| domain | EF-hand domain | 426 - 487 | IPR002048 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 498 - 550 | IPR002219 |
| binding_site | EF-Hand 1, calcium-binding site | 439 - 451 | IPR018247-1 |
| binding_site | EF-Hand 1, calcium-binding site | 468 - 480 | IPR018247-2 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| Bcl3/NF-kappaB2 complex | A protein complex containing one Bcl protein and one or more copies of NF-kappaB2; formation of complexes of different stoichiometry depends on the Bcl3:NF-kappaB2 ratio, and allow Bcl3 to exert different regulatory effects on NF-kappaB2-dependent transcription. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| NF-kappaB complex | A protein complex that consists of a homo- or heterodimer of members of a family of structurally related proteins that contain a conserved N-terminal region called the Rel homology domain (RHD). In the nucleus, NF-kappaB complexes act as transcription factors. In unstimulated cells, NF-kappaB dimers are sequestered in the cytoplasm by IkappaB monomers; signals that induce NF-kappaB activity cause degradation of IkappaB, allowing NF-kappaB dimers to translocate to the nucleus and induce gene expression. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| follicular dendritic cell differentiation | The process in which a relatively unspecialized precursor cell acquires the specialized features of a follicular dendritic cell. |
| germinal center formation | The process in which germinal centers form. A germinal center is a specialized microenvironment formed when activated B cells enter lymphoid follicles. Germinal centers are the foci for B cell proliferation and somatic hypermutation. |
| NIK/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the NIK-dependent processing and activation of NF-KappaB. Begins with activation of the NF-KappaB-inducing kinase (NIK), which in turn phosphorylates and activates IkappaB kinase alpha (IKKalpha). IKKalpha phosphorylates the NF-Kappa B2 protein (p100) leading to p100 processing and release of an active NF-KappaB (p52). |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of transcription, DNA-templated | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
| spleen development | The process whose specific outcome is the progression of the spleen over time, from its formation to the mature structure. The spleen is a large vascular lymphatic organ composed of white and red pulp, involved both in hemopoietic and immune system functions. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04861 | NFKB1 | Nuclear factor NF-kappa-B p105 subunit | Gallus gallus (Chicken) | SS |
| P98150 | NFKB2 | Nuclear factor NF-kappa-B p100 subunit | Gallus gallus (Chicken) | SS |
| Q94527 | Rel | Nuclear factor NF-kappa-B p110 subunit | Drosophila melanogaster (Fruit fly) | EV |
| Q99549 | MPHOSPH8 | M-phase phosphoprotein 8 | Homo sapiens (Human) | PR |
| Q8N9B4 | ANKRD42 | Ankyrin repeat domain-containing protein 42 | Homo sapiens (Human) | PR |
| Q6ZVZ8 | ASB18 | Ankyrin repeat and SOCS box protein 18 | Homo sapiens (Human) | PR |
| Q04206 | RELA | Transcription factor p65 | Homo sapiens (Human) | EV |
| P19838 | NFKB1 | Nuclear factor NF-kappa-B p105 subunit | Homo sapiens (Human) | SS |
| Q9CZK6 | Anks3 | Ankyrin repeat and SAM domain-containing protein 3 | Mus musculus (Mouse) | PR |
| Q8VHA6 | Asb18 | Ankyrin repeat and SOCS box protein 18 | Mus musculus (Mouse) | PR |
| P25799 | Nfkb1 | Nuclear factor NF-kappa-B p105 subunit [Cleaved into: Nuclear factor NF-kappa-B p50 subunit] | Mus musculus (Mouse) | EV |
| Q9WTK5 | Nfkb2 | Nuclear factor NF-kappa-B p100 subunit [Cleaved into: Nuclear factor NF-kappa-B p52 subunit] | Mus musculus (Mouse) | EV |
| Q04207 | Rela | Transcription factor p65 | Mus musculus (Mouse) | SS |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| O22265 | CAO | Signal recognition particle 43 kDa protein, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SZI3 | NPR2 | Regulatory protein NPR2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESCYNPGLD | GIIEYDDFKL | NSSIVEPKEP | APETADGPYL | VIVEQPKQRG | FRFRYGCEGP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHGGLPGASS | EKGRKTYPTV | KICNYEGPAK | IEVDLVTHSD | PPRAHAHSLV | GKQCSELGIC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AVSVGPKDMT | AQFNNLGVLH | VTKKNMMGTM | IQKLQRQRLR | SRPQGLTEAE | QRELEQEAKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LKKVMDLSIV | RLRFSAFLRA | SDGSFSLPLK | PVISQPIHDS | KSPGASNLKI | SRMDKTAGSV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RGGDEVYLLC | DKVQKDDIEV | RFYEDDENGW | QAFGDFSPTD | VHKQYAIVFR | TPPYHKMKIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RPVTVFLQLK | RKRGGDVSDS | KQFTYYPLVE | DKEEVQRKRR | KALPTFSQPF | GGGSHMGGGS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GGAAGGYGGA | GGGGSLGFFP | SSLAYSPYQS | GAGPMGCYPG | GGGGAQMAAT | VPSRDSGEEA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AEPSAPSRTP | QCEPQAPEML | QRAREYNARL | FGLAQRSARA | LLDYGVTADA | RALLAGQRHL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTAQDENGDT | PLHLAIIHGQ | TSVIEQIVYV | IHHAQDLGVV | NLTNHLHQTP | LHLAVITGQT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SVVSFLLRVG | ADPALLDRHG | DSAMHLALRA | GAGAPELLRA | LLQSGAPAVP | QLLHMPDFEG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LYPVHLAVRA | RSPECLDLLV | DSGAEVEATE | RQGGRTALHL | ATEMEELGLV | THLVTKLRAN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VNARTFAGNT | PLHLAAGLGY | PTLTRLLLKA | GADIHAENEE | PLCPLPSPPT | SDSDSDSEGP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EKDTRSSFRG | HTPLDLTCST | KVKTLLLNAA | QNTMEPPLTP | PSPAGPGLSL | GDTALQNLEQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LLDGPEAQGS | WAELAERLGL | RSLVDTYRQT | TSPSGSLLRS | YELAGGDLAG | LLEALSDMGL |
| 850 | 860 | 870 | 880 | 890 | |
| EEGVRLLRGP | ETRDKLPSTA | EVKEDSAYGS | QSVEQEAEKL | GPPPEPPGGL | CHGHPQPQVH |