P36507
EV
Gene name |
MAP2K2 (MEK2, MKK2, PRKMK2) |
Protein name |
Dual specificity mitogen-activated protein kinase kinase 2 |
Names |
MAP kinase kinase 2, MAPKK 2, ERK activator kinase 2, MAPK/ERK kinase 2, MEK 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5605 |
EC number |
2.7.12.2: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Protein Class |
DUAL SPECIFICITY MITOGEN-ACTIVATED PROTEIN KINASE KINASE DSOR1-LIKE PROTEIN (PTHR47448) |
Descriptions
MAP2K2 encodes for Dual specificity mitogen-activated protein kinase kinase 2, belongs to MAP2Ks family, plays an important role in MAP kinase signal transduction pathway. The autoinhibitory state of MAP2K2 is more stable as dimer in the absence of its own substrates or other interacting partners. The several interactions span from the N-terminal to the C-terminal to form dimer. Dimerization of MAP2K2 blocks access to the substrate binding site and the activation loop from macromolecules. MAP2K2 has high sequence similarity with MAP2K1, and the same mechanism of autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
72-369 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis |
Accessory elements
211-232 (Activation loop from InterPro)
Target domain |
72-369 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Min X et al. (2009) "The structure of the MAP2K MEK6 reveals an autoinhibitory dimer", Structure (London, England : 1993), 17, 96-104
- Ohren JF et al. (2004) "Structures of human MAP kinase kinase 1 (MEK1) and MEK2 describe novel noncompetitive kinase inhibition", Nature structural & molecular biology, 11, 1192-7
Autoinhibited structure
Activated structure
3 structures for P36507
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1S9I | X-ray | 320 A | A/B | 55-400 | PDB |
| 4H3Q | X-ray | 220 A | B | 4-16 | PDB |
| AF-P36507-F1 | Predicted | AlphaFoldDB |
384 variants for P36507
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs730880519 RCV000158044 |
8 | V>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9091114 RCV000704590 rs758307267 |
9 | L>P | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs904859028 CA304449330 RCV000761005 |
16 | P>T | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000158050 rs730880525 |
24 | P>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000158045 rs730880520 CA296176 RCV001852681 |
28 | G>E | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519810 RCV000444084 CA16602635 |
35 | V>M | Melanoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1057519809 RCV000432005 CA16602634 |
46 | L>F | Melanoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1599307416 RCV000824942 CA403392807 |
50 | Q>R | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777549760 RCV000414117 RCV001850984 RCV001201247 |
54 | L>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_035095 rs121434497 CA279958 |
57 | F>C | CFC4 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
COSM1235618 CA16602884 RCV000438529 RCV000429600 RCV000417753 rs1057519910 RCV000428429 COSM3389035 COSM3389034 |
57 | F>L | Squamous cell carcinoma of the head and neck pancreas Pancreatic adenocarcinoma Gastric adenocarcinoma haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1235618 rs1057519910 COSM3389035 CA403392731 RCV000702132 COSM3389034 |
57 | F>L | pancreas RASopathy haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs121434498 CA279960 VAR_069781 RCV000521375 RCV000008762 RCV000434377 RCV000441583 RCV000439181 RCV000423711 |
57 | F>V | Squamous cell carcinoma of the head and neck Cardiofaciocutaneous syndrome 4 Pancreatic adenocarcinoma Gastric adenocarcinoma CFC4 Cardio-facio-cutaneous syndrome Malignant melanoma of skin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057519808 CA16602633 COSM1236207 RCV000421323 |
60 | Q>P | NS Melanoma skin haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs730880517 RCV000200295 RCV000158039 CA280074 |
61 | K>E | Cardiofaciocutaneous syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001775109 RCV000330980 RCV001855055 CA10603449 rs886041310 |
61 | K>N | Cardiofaciocutaneous syndrome 4 RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000603653 RCV000824943 CA403392690 rs886041310 |
61 | K>N | Noonan syndrome with multiple lentigines [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599307313 RCV000824944 |
63 | K>missing | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555698682 CA658799107 RCV000654954 |
64 | V>A | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000496536 rs1135401787 CA403392664 |
64 | V>G | Cardiofaciocutaneous syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1114167351 RCV000490823 |
71 | D>missing | Smith-Magenis Syndrome-like [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654927 CA9091077 rs187018595 |
73 | E>K | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM439555 RCV001850988 RCV002223837 RCV000412991 COSM1481092 CA9091069 rs765755554 |
83 | G>S | RASopathy breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000767152 COSM1734488 COSM1734487 RCV000154558 rs202220799 RCV000521587 CA180967 |
94 | S>L | pancreas RASopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373579939 RCV000545526 RCV000767153 CA137928 RCV000039477 |
97 | I>F | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555698652 RCV000654959 |
97 | I>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2041236830 RCV001334285 |
100 | R>S | Cardiofaciocutaneous syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616268 RCV000457414 rs1060502983 |
109 | P>A | RASopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16602632 RCV000438500 rs1057519807 |
125 | C>S | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1731743 CA16602631 rs1057519806 RCV001851015 RCV000824947 COSM1731742 RCV000429584 RCV000995803 |
126 | N>D | Cardiofaciocutaneous syndrome 4 NS RASopathy Melanoma Cardio-facio-cutaneous syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA403391488 COSM996751 COSM1590054 RCV000694725 rs1568260052 |
127 | S>L | RASopathy endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA9091012 rs267607230 RCV000824698 |
128 | P>L | Castleman-Kojima disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_069782 rs267607230 CA279962 |
128 | P>Q | CFC4; results in increased kinase activity [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000149835 CA250288 RCV000413893 rs387906800 RCV000023088 |
132 | G>D | Cardiofaciocutaneous syndrome 4 RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001813182 RCV000043675 RCV000521479 CA119417 rs121434499 RCV000008763 RCV000158022 VAR_069783 |
134 | Y>H | Cardiofaciocutaneous syndrome 4 Noonan syndrome and Noonan-related syndrome RASopathy CFC4 Cardio-facio-cutaneous syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001054554 rs2041140457 |
145 | I>V | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs17851657 CA403390199 RCV000654973 |
151 | D>E | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9090953 RCV001866196 rs376299424 RCV001580898 |
162 | A>V | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751317148 CA9090951 RCV000692716 |
164 | R>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1413580671 RCV000626968 CA403390071 |
172 | K>E | Migraine [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA304450477 rs373325880 RCV000761014 |
175 | I>V | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000519027 rs370799450 RCV000158023 CA296130 |
179 | R>W | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1390219813 RCV001038407 |
185 | R>* | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228529 rs2041005560 |
193 | R>* | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000156700 rs530342723 CA185381 RCV000686315 |
193 | R>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000158024 RCV000524055 CA180944 COSM232757 rs727504382 RCV000254662 |
207 | E>K | RASopathy skin Cardio-facio-cutaneous syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA403388616 rs1555696933 RCV001860145 RCV000587985 |
209 | K>N | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001196823 rs2041001051 |
221 | D>N | Cardiofaciocutaneous syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9090854 rs730880511 RCV000654976 |
231 | R>H | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000158025 CA296133 rs730880511 RCV000466246 |
231 | R>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000519690 RCV000039493 CA137966 rs138873805 |
262 | V>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368064728 RCV001857558 RCV000588108 CA296136 |
269 | P>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000681198 RCV001172272 RCV000154524 rs368064728 CA180914 |
269 | P>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs758031424 CA9090827 RCV001772146 RCV000824949 |
271 | D>N | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000781517 RCV000522446 rs539555837 RCV000990136 RCV000158027 CA296139 |
273 | K>R | Cardiofaciocutaneous syndrome 4 RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs889422963 RCV000412732 CA16043198 RCV001861423 |
276 | E>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000458371 CA16043108 RCV000413176 rs766540227 |
278 | I>M | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001815372 CA403385475 rs1332074575 RCV000690261 |
281 | R>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759998177 RCV001873656 RCV001174923 CA9090820 |
281 | R>W | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000824950 RCV000039495 RCV000680293 RCV000522371 rs142307980 CA137972 |
282 | P>S | Noonan syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9090817 rs185999703 RCV000520355 |
283 | V>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA296185 RCV000654943 RCV000158048 rs730880523 |
286 | G>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555696725 CA403385362 RCV000654923 |
289 | G>R | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA296145 RCV000158030 rs531584619 RCV001852682 |
295 | S>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs140111079 RCV000680326 RCV000764204 CA9090804 RCV000690698 |
297 | R>Q | Cardiofaciocutaneous syndrome 4 RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852749 COSM1238032 rs200371894 RCV001813317 RCV000586661 CA180870 RCV000154492 RCV000227476 |
298 | P>L | lung Noonan syndrome and Noonan-related syndrome RASopathy Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000761056 rs151133017 RCV000158031 CA296148 RCV000767154 |
313 | R>Q | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9090759 RCV000656742 rs772831628 RCV000360631 RCV001859537 |
313 | R>W | Cardiofaciocutaneous syndrome 4 RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000158032 CA296151 rs730880512 RCV001850203 |
324 | Y>C | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001718806 RCV001861414 CA16043196 rs1015139062 RCV000412966 |
346 | V>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA403383138 RCV001865804 RCV001334283 rs1460336485 |
348 | K>E | Cardiofaciocutaneous syndrome 4 RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000824951 rs1599278009 CA403381154 |
370 | K>R | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000781515 rs730880514 CA296157 RCV000546588 RCV000158034 |
371 | R>Q | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA304445720 RCV000693780 rs1003521922 |
371 | R>W | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000680296 RCV000200611 rs144383241 RCV000824952 CA180895 RCV001334284 RCV000154509 |
388 | R>W | Cardiofaciocutaneous syndrome 4 RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000269273 RCV001030088 RCV000764203 rs117945277 CA9090685 RCV000588572 RCV000824953 |
396 | T>M | Cardiofaciocutaneous syndrome 4 RASopathy Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000788439 CA403396078 rs1399102007 |
3 | A>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs587781030 CA304449363 |
3 | A>V | No |
ClinGen Ensembl |
|
|
rs730880524 CA296188 RCV000158049 |
4 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA304449355 rs587781031 |
7 | P>S | No |
ClinGen Ensembl |
|
|
CA9091115 rs779834046 |
8 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403396034 rs1555699410 RCV000597450 |
11 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9091113 rs750214699 |
11 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756416031 CA9091111 |
13 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403396013 rs1217991816 |
15 | N>H | No |
ClinGen gnomAD |
|
|
CA403396010 rs1408360787 |
15 | N>T | No |
ClinGen TOPMed |
|
|
RCV001564919 RCV000039486 CA137949 rs397517415 |
17 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA403395997 rs1380162746 |
17 | T>I | No |
ClinGen gnomAD |
|
|
rs397517415 CA9091107 |
17 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774968670 CA9091106 |
18 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA403395966 rs1325938060 |
22 | P>L | No |
ClinGen gnomAD |
|
|
CA403395969 COSM399796 rs766829845 |
22 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs766829845 CA9091105 |
22 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1420256288 CA403395956 |
24 | P>H | No |
ClinGen gnomAD |
|
|
rs1420256288 CA403395954 |
24 | P>L | No |
ClinGen gnomAD |
|
|
CA403395953 rs1161407396 |
25 | T>P | No |
ClinGen gnomAD |
|
|
CA403395951 rs1161407396 |
25 | T>S | No |
ClinGen gnomAD |
|
|
rs1207931346 CA403395942 |
26 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1414051360 CA403395939 |
27 | E>K | No |
ClinGen gnomAD |
|
|
CA9091104 rs763455417 |
28 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs747864035 CA9091101 |
29 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs770134564 CA9091102 |
29 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs866862003 CA403393009 |
32 | A>S | No |
ClinGen gnomAD |
|
|
rs866862003 CA304456659 |
32 | A>T | No |
ClinGen gnomAD |
|
|
rs940667388 CA304456657 |
33 | N>K | No |
ClinGen TOPMed |
|
|
rs1599307469 CA403392995 |
33 | N>T | No |
ClinGen Ensembl |
|
|
CA9091088 rs766428454 |
34 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049115576 CA304456646 |
35 | V>G | No |
ClinGen TOPMed |
|
|
rs1057519810 CA403392981 |
35 | V>L | No |
ClinGen gnomAD |
|
|
CA403392927 rs1321520649 |
40 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403392883 rs1281225185 |
43 | E>G | No |
ClinGen gnomAD |
|
|
CA403392855 rs1057519809 |
46 | L>V | No |
ClinGen gnomAD |
|
|
RCV000480980 CA16620852 rs1064793306 |
48 | E>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA403392836 rs1295043645 |
48 | E>K | No |
ClinGen gnomAD |
|
|
CA9091085 rs374336702 |
52 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323923681 CA403392772 |
53 | R>P | No |
ClinGen TOPMed |
|
|
CA9091084 rs762146075 |
53 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs201581427 CA403392766 |
54 | L>V | No |
ClinGen TOPMed |
|
|
RCV000151011 CA176709 rs121434498 |
57 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM1235618 rs121434498 COSM3389035 RCV000158037 CA296166 COSM3389034 |
57 | F>L | pancreas haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA403392733 rs121434497 RCV000587607 |
57 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768329054 CA9091081 |
62 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA403392662 rs1135401787 |
64 | V>A | No |
ClinGen gnomAD |
|
|
RCV000158040 rs730880518 CA296169 |
64 | V>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs774875456 COSM1590053 CA9091080 COSM996784 |
65 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1568263766 CA403392639 RCV000680643 |
66 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM1392861 CA304456602 rs371852537 COSM1392862 |
66 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
rs199850535 CA9091079 |
69 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1427916025 CA403392614 |
69 | D>H | No |
ClinGen gnomAD |
|
|
rs1457644550 CA403392601 |
70 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1457644550 CA403392602 |
70 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs921196815 CA304456597 |
70 | D>V | No |
ClinGen TOPMed |
|
|
RCV000413956 rs1057517929 CA16043109 |
72 | F>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA9091076 rs187018595 |
73 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200761375 CA403392559 |
74 | R>S | No |
ClinGen gnomAD |
|
|
rs751795549 CA9091072 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9091071 rs142271248 |
80 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304456565 rs1006857816 |
84 | G>R | No |
ClinGen Ensembl |
|
|
rs760301403 CA9091065 |
85 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs142503093 CA296172 RCV000158041 |
85 | V>L | No |
ClinGen ClinVar ESP dbSNP gnomAD |
|
|
rs142503093 CA403392497 |
85 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs759061964 CA9091063 RCV000413006 |
92 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs397517412 CA137925 |
96 | L>R | No |
ClinGen Ensembl |
|
|
rs373579939 CA403392401 |
97 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9091061 RCV000285952 rs200918323 |
97 | I>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1179753041 CA403392379 |
98 | M>I | No |
ClinGen TOPMed |
|
|
rs1484288126 CA403392391 |
98 | M>V | No |
ClinGen gnomAD |
|
|
rs1304984012 CA403391783 |
102 | L>P | No |
ClinGen TOPMed |
|
|
rs1220216065 CA403391780 |
103 | I>V | No |
ClinGen gnomAD |
|
|
rs1599300569 CA403391770 |
104 | H>P | No |
ClinGen Ensembl |
|
|
rs730880521 RCV000158046 CA296179 |
105 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA403391749 rs1555698037 RCV000608440 |
107 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA403391750 rs1555698037 |
107 | I>T | No |
ClinGen Ensembl |
|
|
CA9091025 RCV000217864 RCV000680337 rs544242665 |
109 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs746153235 CA9091023 |
110 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA403391703 RCV000498041 rs1555698031 |
111 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201129499 CA304453904 |
112 | R>W | No |
ClinGen gnomAD |
|
|
CA403391655 rs1299789389 COSM1636829 COSM1636828 |
114 | Q>H | bone [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA403391653 rs1398362502 |
115 | I>V | No |
ClinGen gnomAD |
|
|
rs749389113 CA9091019 |
117 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403391619 rs1370559062 |
117 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403391616 rs1370559062 |
117 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756646033 RCV000780395 CA9091017 |
118 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1235910550 CA403391528 |
124 | E>D | No |
ClinGen gnomAD |
|
|
rs781670734 CA9091015 |
124 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA304453891 rs1037950431 |
124 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1057519806 CA403391510 |
126 | N>H | No |
ClinGen Ensembl |
|
|
CA180731 RCV000154387 rs267607230 |
128 | P>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1263759203 CA403391454 |
130 | I>V | No |
ClinGen TOPMed |
|
|
RCV000039479 CA137932 rs397517413 |
131 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA9091009 rs764596396 |
133 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA180890 COSM1644764 rs727504370 COSM1644765 |
134 | Y>C | salivary_gland [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs575285559 CA403391384 |
135 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9091006 rs575285559 |
135 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9091005 rs775213593 |
138 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA403391321 rs1165668205 |
139 | S>R | No |
ClinGen TOPMed |
|
|
CA9091003 rs773352066 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA403391260 rs1378281145 |
144 | S>G | No |
ClinGen gnomAD |
|
|
rs748732037 CA9091001 |
146 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs781533418 CA9091000 |
149 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs747409280 CA9090998 |
150 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1441349097 CA403391212 |
150 | M>T | No |
ClinGen gnomAD |
|
|
CA304453836 rs1035602092 |
150 | M>V | No |
ClinGen gnomAD |
|
|
rs764258266 CA9090962 |
151 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA403390205 rs1452405451 |
151 | D>N | No |
ClinGen gnomAD |
|
|
CA16620851 RCV000484028 rs910514546 |
152 | G>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1219196052 CA403390191 |
153 | G>D | No |
ClinGen gnomAD |
|
|
CA9090960 rs772534863 |
153 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291541587 CA403390183 |
154 | S>C | No |
ClinGen gnomAD |
|
|
rs1291541587 CA403390185 COSM235619 |
154 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1599291573 CA403390179 |
155 | L>P | No |
ClinGen Ensembl |
|
|
CA403390181 rs1029582498 |
155 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403390156 rs1599291566 |
158 | V>G | No |
ClinGen Ensembl |
|
|
RCV000443892 CA16607837 rs755613777 |
159 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1009458252 CA304450497 |
161 | E>K | No |
ClinGen gnomAD |
|
|
CA9090952 rs754907598 |
163 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255048230 CA403390106 |
166 | P>L | No |
ClinGen gnomAD |
|
|
rs1159508215 CA403390109 |
166 | P>S | No |
ClinGen TOPMed |
|
|
CA9090950 rs757480440 |
167 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403390105 rs1457335620 |
167 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403390084 rs1206762217 |
169 | I>M | No |
ClinGen gnomAD |
|
|
CA403390075 rs1299176017 |
171 | G>E | No |
ClinGen gnomAD |
|
|
CA403390067 rs1218364046 |
172 | K>I | No |
ClinGen gnomAD |
|
|
rs767381558 CA304450474 |
176 | A>T | No |
ClinGen Ensembl |
|
|
rs775661458 CA9090947 |
176 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9090909 rs763387514 |
177 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1262143092 CA403389083 |
178 | L>F | No |
ClinGen gnomAD |
|
|
RCV000315212 rs776316565 CA9090906 |
179 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA403389046 rs1336312423 |
180 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA304449957 rs750247968 |
180 | G>D | No |
ClinGen Ensembl |
|
|
CA403389053 rs1336312423 |
180 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750247968 CA304449955 |
180 | G>V | No |
ClinGen Ensembl |
|
|
rs1218585349 CA403389022 |
181 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1057517898 RCV000413749 CA16043110 |
181 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA403389004 rs1327576678 |
182 | A>V | No |
ClinGen gnomAD |
|
|
rs772139417 CA9090903 |
185 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866718983 CA304449948 |
186 | E>G | No |
ClinGen Ensembl |
|
|
rs1469284383 CA403388960 |
186 | E>Q | No |
ClinGen TOPMed |
|
|
CA403388936 rs1334407984 |
187 | K>R | No |
ClinGen TOPMed |
|
|
CA9090902 rs546749336 |
188 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403388931 rs1398229930 |
188 | H>Y | No |
ClinGen gnomAD |
|
|
CA403388914 rs1195044512 |
190 | I>T | No |
ClinGen gnomAD |
|
|
rs1213958184 CA403388887 |
194 | D>Y | No |
ClinGen gnomAD |
|
|
rs755854200 CA9090872 |
195 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs376969315 CA9090870 |
198 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376969315 CA9090869 |
198 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1487514559 CA403388760 |
199 | N>S | No |
ClinGen gnomAD |
|
|
rs766426118 CA9090867 |
200 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000681413 rs1568253689 CA403388719 |
202 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769471250 CA9090865 |
202 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9090864 rs760997753 |
203 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775668076 CA9090863 |
204 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403388630 rs1358415766 |
208 | I>M | No |
ClinGen gnomAD |
|
|
CA304449868 rs1018797594 |
209 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403388609 rs1400901853 |
210 | L>P | No |
ClinGen gnomAD |
|
|
CA403388589 rs1568253648 |
212 | D>N | No |
ClinGen Ensembl |
|
|
CA403388552 rs1431167877 |
214 | G>E | No |
ClinGen Ensembl |
|
|
CA9090862 rs778895928 |
214 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9090861 rs771480968 |
215 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9090859 rs756402608 |
217 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9090860 rs756402608 |
217 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9090858 rs752445890 |
217 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1284367895 CA403388508 |
218 | Q>L | No |
ClinGen TOPMed |
|
|
CA180877 RCV000154498 rs727504363 |
220 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1288061001 CA403388412 |
225 | N>I | No |
ClinGen gnomAD |
|
|
CA403388375 rs999810842 |
228 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs999810842 RCV000487640 CA16621719 |
228 | V>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA403388367 rs1235037781 |
229 | G>S | No |
ClinGen gnomAD |
|
|
rs369714097 CA9090856 |
230 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9090855 rs375843855 |
231 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403388307 rs1460428317 |
233 | Y>C | No |
ClinGen gnomAD |
|
|
CA403388265 rs1166526430 |
235 | A>S | No |
ClinGen gnomAD |
|
|
CA403387996 rs1309234276 RCV000722428 |
236 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1205159482 CA403388003 |
236 | P>S | No |
ClinGen gnomAD |
|
|
CA403388008 rs1205159482 |
236 | P>T | No |
ClinGen gnomAD |
|
|
CA403387961 rs1233377512 |
238 | R>G | No |
ClinGen gnomAD |
|
|
rs1348137830 CA403387956 |
238 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1233377512 CA403387959 |
238 | R>W | No |
ClinGen gnomAD |
|
|
rs1305191745 CA403387895 |
241 | G>R | No |
ClinGen gnomAD |
|
|
CA304449331 rs778077063 |
242 | T>R | No |
ClinGen Ensembl |
|
|
CA304449328 rs959612485 |
243 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA403387850 rs959612485 |
243 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1357996204 CA403387761 |
247 | Q>* | No |
ClinGen gnomAD |
|
|
CA403387759 rs1226120513 |
247 | Q>P | No |
ClinGen TOPMed |
|
|
rs761669626 COSM1392829 CA9090837 COSM1392830 |
248 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs971320187 CA304449323 |
251 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs971320187 CA403386763 |
251 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403386738 rs1157111874 |
252 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763860544 CA9090835 |
253 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408773835 CA403386712 |
253 | M>V | No |
ClinGen gnomAD |
|
|
CA304449317 rs1038040308 |
259 | E>Q | No |
ClinGen Ensembl |
|
|
rs1485877939 CA403386565 |
261 | A>T | No |
ClinGen gnomAD |
|
|
CA9090831 rs138873805 |
262 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770218947 CA9090830 |
262 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA296182 rs730880522 |
263 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403386533 rs1410896893 |
264 | R>T | No |
ClinGen TOPMed |
|
|
CA403386518 rs1377552828 |
265 | Y>C | No |
ClinGen gnomAD |
|
|
rs1312814035 CA403386490 |
267 | I>M | No |
ClinGen gnomAD |
|
|
CA403386494 rs1599287004 |
267 | I>T | No |
ClinGen Ensembl |
|
|
rs368064728 CA403386473 |
269 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201726622 CA9090825 |
271 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403385613 rs757240576 |
272 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9090824 RCV000680366 RCV000482431 rs757240576 |
272 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs370745435 CA9090823 |
273 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1187171129 CA403385571 |
275 | L>P | No |
ClinGen gnomAD |
|
|
rs371810699 CA304449271 |
277 | A>V | No |
ClinGen Ensembl |
|
|
rs1260963577 CA403385482 |
280 | G>D | No |
ClinGen gnomAD |
|
|
rs763167619 CA403385493 |
280 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763167619 CA9090821 |
280 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332074575 CA403385473 |
281 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs777255316 CA9090818 |
282 | P>H | No |
ClinGen ExAC TOPMed |
|
|
rs185999703 RCV000586540 CA9090816 |
283 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA296142 RCV000158029 rs150369301 RCV000680294 |
285 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs730880523 CA9090813 |
286 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756004431 CA9090811 |
287 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000597122 rs763469132 |
288 | E>missing | No |
ClinVar dbSNP |
|
|
rs1461890634 CA403385377 |
288 | E>K | No |
ClinGen gnomAD |
|
|
rs1416387159 CA403385332 |
291 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9090809 rs752436529 |
291 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261950218 CA403385317 |
292 | H>R | No |
ClinGen gnomAD |
|
|
CA9090808 rs767332073 |
292 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403385308 rs1326008996 |
293 | S>G | No |
ClinGen TOPMed |
|
|
RCV000588230 CA9090805 rs562352756 |
297 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1370620009 CA403385191 |
300 | P>H | No |
ClinGen gnomAD |
|
|
rs1438946064 CA403385200 |
300 | P>T | No |
ClinGen gnomAD |
|
|
CA9090802 rs532266535 |
301 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1064793436 RCV000485520 |
302 | G>missing | No |
ClinVar dbSNP |
|
|
CA10604609 rs759148204 RCV000313977 |
302 | G>R | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs759148204 CA9090800 |
302 | G>R | No |
ClinGen ExAC |
|
|
CA403385172 rs759148204 |
302 | G>W | No |
ClinGen ExAC |
|
|
rs770521279 CA9090798 |
303 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1251433138 CA403385151 |
303 | R>H | No |
ClinGen TOPMed |
|
|
rs1451406400 CA403385142 |
304 | P>T | No |
ClinGen TOPMed |
|
|
RCV000158017 rs730880509 CA296126 |
305 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA403385118 rs1172317151 |
306 | S>I | No |
ClinGen gnomAD |
|
|
rs1469141139 CA403385106 |
307 | G>S | No |
ClinGen gnomAD |
|
|
rs972709764 CA304448317 |
308 | H>Y | No |
ClinGen Ensembl |
|
|
rs377755503 CA9090762 |
309 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377755503 CA9090763 |
309 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762635761 CA9090760 COSM996709 |
310 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1352971613 CA403384686 |
310 | M>K | No |
ClinGen gnomAD |
|
|
rs766715536 CA9090761 |
310 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs775940718 CA403384068 |
314 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775940718 CA9090758 |
314 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403384042 rs1324253510 |
316 | M>V | No |
ClinGen gnomAD |
|
|
rs1064797064 CA16620848 RCV000484509 |
318 | I>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs768656734 CA9090757 |
323 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775489626 CA9090756 |
325 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403383869 rs775489626 |
325 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180854 RCV000154480 rs727504353 |
329 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1427321403 CA403383452 |
331 | P>S | No |
ClinGen gnomAD |
|
|
rs779065052 CA304447547 |
336 | G>D | No |
ClinGen gnomAD |
|
|
rs1599282416 CA403383387 |
336 | G>S | No |
ClinGen Ensembl |
|
|
rs1232245814 CA403383370 |
337 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1305209288 CA403383343 |
339 | T>N | No |
ClinGen TOPMed |
|
|
CA403383327 rs1277686711 RCV001293480 |
340 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1483930275 CA403383335 |
340 | P>T | No |
ClinGen gnomAD |
|
|
rs564067943 CA304447542 |
341 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9090727 rs564067943 |
341 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35737722 CA304447537 |
343 | Q>H | No |
ClinGen Ensembl |
|
|
CA304447534 rs963596101 |
344 | E>G | No |
ClinGen Ensembl |
|
|
RCV000413213 CA16043090 rs1057518088 |
347 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA403382559 rs1186887468 |
350 | L>F | No |
ClinGen gnomAD |
|
|
rs770625938 CA9090711 |
352 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV002223228 rs879819202 CA304447126 RCV000608579 |
354 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs879819202 CA403382508 |
354 | P>Q | No |
ClinGen gnomAD |
|
|
CA9090709 rs776743002 |
355 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768826287 CA9090708 RCV000349966 RCV000725661 |
355 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9090707 rs201110543 |
357 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA304447119 rs945585174 |
357 | R>W | No |
ClinGen Ensembl |
|
|
CA296154 rs730880513 |
362 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9090705 rs746359861 |
362 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1055487217 CA304445722 |
367 | T>A | No |
ClinGen TOPMed |
|
|
rs730880514 CA403381137 |
371 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275501450 CA403381135 |
372 | S>P | No |
ClinGen gnomAD |
|
|
CA304445718 rs866048999 |
373 | E>* | No |
ClinGen Ensembl |
|
|
rs1304831843 CA403381027 |
378 | D>V | No |
ClinGen gnomAD |
|
|
rs867823488 CA304445716 |
380 | A>S | No |
ClinGen TOPMed |
|
|
rs867823488 CA304445717 |
380 | A>T | No |
ClinGen TOPMed |
|
|
rs866020481 CA304445714 |
380 | A>V | No |
ClinGen TOPMed |
|
|
CA403380977 rs866824742 |
381 | G>A | No |
ClinGen Ensembl |
|
|
rs565860695 CA304445712 |
381 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304445711 rs866824742 |
381 | G>D | No |
ClinGen Ensembl |
|
|
rs565860695 CA9090690 |
381 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403380951 rs868508659 |
382 | W>* | No |
ClinGen gnomAD |
|
|
CA304445708 rs868508659 |
382 | W>C | No |
ClinGen gnomAD |
|
|
CA304445710 rs865798013 |
382 | W>L | No |
ClinGen Ensembl |
|
|
CA403380937 rs1599277931 |
383 | L>V | No |
ClinGen Ensembl |
|
|
CA403380930 rs1401125796 |
384 | C>S | No |
ClinGen gnomAD |
|
|
rs749615795 CA403380824 |
388 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9090689 COSM1578994 rs749615795 COSM1578993 |
388 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs755887476 CA9090687 |
393 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202213101 CA403380729 |
393 | G>V | No |
ClinGen gnomAD |
|
|
rs1348666273 CA403380704 |
394 | T>R | No |
ClinGen gnomAD |
|
|
CA296160 RCV000158035 rs730880515 |
394 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA403380672 rs117945277 |
396 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000158036 CA296163 rs730880516 |
397 | R>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs751040819 CA9090683 |
397 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751040819 CA304445698 |
397 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758299115 CA9090681 |
398 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758299115 CA403380641 |
398 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382101858 CA403380630 RCV001328431 |
399 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA304445692 rs912154933 |
399 | A>V | No |
ClinGen gnomAD |
|
|
rs533247725 CA9090680 |
400 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
1 associated diseases with P36507
[MIM: 615280]: Cardiofaciocutaneous syndrome 4 (CFC4)
A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:20358587}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:20358587}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.12.2 | Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47448 | DUAL SPECIFICITY MITOGEN-ACTIVATED PROTEIN KINASE KINASE DSOR1-LIKE PROTEIN |
| PANTHER Subfamily | PTHR47448:SF3 | PROTEIN KINASE DOMAIN-CONTAINING PROTEIN |
| PANTHER Protein Class | non-receptor serine/threonine protein kinase | |
| PANTHER Pathway Category | No pathway information available | |
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| MAP kinase kinase activity | Catalysis of the concomitant phosphorylation of threonine (T) and tyrosine (Y) residues in a Thr-Glu-Tyr (TEY) thiolester sequence in a MAP kinase (MAPK) substrate. |
| MAP-kinase scaffold activity | The binding activity of a molecule that functions as a physical support for the assembly of a multiprotein mitogen-activated protein kinase (MAPK) complex. Binds multiple kinases of the MAPKKK cascade, and also upstream signaling proteins, permitting those molecules to function in a coordinated way. Bringing together multiple enzymes and their substrates enables the signal to be transduced quickly and efficiently. |
| metal ion binding | Binding to a metal ion. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activator activity | Binds to and increases the activity of a protein serine/threonine kinase. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| ERK1 and ERK2 cascade | An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| peptidyl-serine autophosphorylation | The phosphorylation by a protein of one or more of its own serine amino acid residues, or a serine residue on an identical protein. |
| positive regulation of production of miRNAs involved in gene silencing by miRNA | Any process that activates or increases the frequency, rate or extent of maturation of miRNAs. |
| positive regulation of protein serine/threonine kinase activity | Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. |
| positive regulation of transcription, DNA-templated | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of early endosome to late endosome transport | Any process that modulates the frequency, rate or extent of early endosome to late endosome transport. |
| regulation of Golgi inheritance | Any process that modulates the rate, frequency or extent of Golgi inheritance. Golgi inheritance is the partitioning of Golgi apparatus between daughter cells at cell division. |
| regulation of stress-activated MAPK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32491 | MKK2 | MAP kinase kinase MKK2/SSP33 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32490 | MKK1 | MAP kinase kinase MKK1/SSP32 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q90891 | MAP2K2 | Dual specificity mitogen-activated protein kinase kinase 2 | Gallus gallus (Chicken) | PR |
| Q9XT09 | MAP2K1 | Dual specificity mitogen-activated protein kinase kinase 1 | Pan troglodytes (Chimpanzee) | PR |
| Q1HG70 | MAP2K2 | Dual specificity mitogen-activated protein kinase kinase 2 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| Q24324 | Dsor1 | Dual specificity mitogen-activated protein kinase kinase dSOR1 | Drosophila melanogaster (Fruit fly) | PR |
| O14733 | MAP2K7 | Dual specificity mitogen-activated protein kinase kinase 7 | Homo sapiens (Human) | PR |
| P52564 | MAP2K6 | Dual specificity mitogen-activated protein kinase kinase 6 | Homo sapiens (Human) | EV |
| P46734 | MAP2K3 | Dual specificity mitogen-activated protein kinase kinase 3 | Homo sapiens (Human) | SS |
| P45985 | MAP2K4 | Dual specificity mitogen-activated protein kinase kinase 4 | Homo sapiens (Human) | EV |
| Q13163 | MAP2K5 | Dual specificity mitogen-activated protein kinase kinase 5 | Homo sapiens (Human) | PR |
| Q02750 | MAP2K1 | Dual specificity mitogen-activated protein kinase kinase 1 | Homo sapiens (Human) | EV |
| Q9WVS7 | Map2k5 | Dual specificity mitogen-activated protein kinase kinase 5 | Mus musculus (Mouse) | PR |
| P31938 | Map2k1 | Dual specificity mitogen-activated protein kinase kinase 1 | Mus musculus (Mouse) | PR |
| Q63932 | Map2k2 | Dual specificity mitogen-activated protein kinase kinase 2 | Mus musculus (Mouse) | PR |
| Q01986 | Map2k1 | Dual specificity mitogen-activated protein kinase kinase 1 | Rattus norvegicus (Rat) | PR |
| Q62862 | Map2k5 | Dual specificity mitogen-activated protein kinase kinase 5 | Rattus norvegicus (Rat) | PR |
| P36506 | Map2k2 | Dual specificity mitogen-activated protein kinase kinase 2 | Rattus norvegicus (Rat) | SS |
| Q5QN75 | MKK1 | Mitogen-activated protein kinase kinase 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q10664 | mek-2 | Dual specificity mitogen-activated protein kinase kinase mek-2 | Caenorhabditis elegans | PR |
| Q9FJV0 | MKK6 | Mitogen-activated protein kinase kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9S7U9 | MKK2 | Mitogen-activated protein kinase kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94A06 | MKK1 | Mitogen-activated protein kinase kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLARRKPVLP | ALTINPTIAE | GPSPTSEGAS | EANLVDLQKK | LEELELDEQQ | KKRLEAFLTQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAKVGELKDD | DFERISELGA | GNGGVVTKVQ | HRPSGLIMAR | KLIHLEIKPA | IRNQIIRELQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLHECNSPYI | VGFYGAFYSD | GEISICMEHM | DGGSLDQVLK | EAKRIPEEIL | GKVSIAVLRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LAYLREKHQI | MHRDVKPSNI | LVNSRGEIKL | CDFGVSGQLI | DSMANSFVGT | RSYMAPERLQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GTHYSVQSDI | WSMGLSLVEL | AVGRYPIPPP | DAKELEAIFG | RPVVDGEEGE | PHSISPRPRP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PGRPVSGHGM | DSRPAMAIFE | LLDYIVNEPP | PKLPNGVFTP | DFQEFVNKCL | IKNPAERADL |
| 370 | 380 | 390 | |||
| KMLTNHTFIK | RSEVEEVDFA | GWLCKTLRLN | QPGTPTRTAV |