Q16288
SS
Gene name |
NTRK3 (TRKC) |
Protein name |
NT-3 growth factor receptor |
Names |
EC 2.7.10.1 , GP145-TrkC , Trk-C , Neurotrophic tyrosine kinase receptor type 3 , TrkC tyrosine kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4916 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
NTRK1 is a high-affinity nerve growth factor receptor and its ligand is nerve growth factor (NGF), which is involved in the survival, differentiation, development, and maturation of the central and peripheral nervous systems, particularly the sensory and sympathetic neurons. Studies have shown that deletion of the second Ig-like domain of NTRK1 results in spontaneous activation, so the second Ig-like domain is an autoinhibitory domain required to prevent spontaneous activation by receptor dimerization.
Autoinhibitory domains (AIDs)
Target domain |
538-824 (Protein kinase domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
696-711 (Activation loop from InterPro)
Target domain |
538-828 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
726-735 (Activation loop from InterPro)
Target domain |
538-828 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
696-711 (Activation loop from InterPro)
Target domain |
538-828 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
726-735 (Activation loop from InterPro)
Target domain |
538-828 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Arevalo JC et al. (2000) "TrkA immunoglobulin-like ligand binding domains inhibit spontaneous activation of the receptor", Molecular and cellular biology, 20, 5908-16
- Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20
- Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,
- Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458
- Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40
- Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96
Autoinhibited structure
Activated structure
564 variants for Q16288
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA393917804 rs1397502133 |
2 | D>G | No |
ClinGen gnomAD |
|
|
rs1332907152 CA393917787 |
5 | L>F | No |
ClinGen gnomAD |
|
|
CA7717438 rs776416833 |
7 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760529304 CA7717436 |
8 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7717437 rs766330065 |
8 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA393917765 rs760529304 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368927294 CA393917763 |
9 | K>E | No |
ClinGen gnomAD |
|
|
rs772820012 CA7717435 |
12 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456468651 CA393917725 |
13 | W>C | No |
ClinGen gnomAD |
|
|
CA7717433 rs761609264 |
14 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393917723 rs111731219 |
14 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393917699 rs1288166921 |
17 | L>F | No |
ClinGen gnomAD |
|
|
rs746157259 CA7717430 |
19 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7717429 rs781379782 |
20 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7717428 rs771001903 |
20 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs777949397 CA7717426 |
21 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1645387 rs200822610 RCV000892087 COSM1645386 VAR_074601 CA7717427 |
21 | V>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200822610 CA393917681 |
21 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1288150213 CA393917671 |
22 | W>C | No |
ClinGen gnomAD |
|
|
CA393917668 rs1229340087 |
23 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393917653 rs1169532276 |
25 | Y>C | No |
ClinGen TOPMed |
|
|
rs1006732882 CA275112637 |
25 | Y>H | No |
ClinGen gnomAD |
|
|
rs139291499 CA275112636 |
27 | G>D | No |
ClinGen Ensembl |
|
|
CA393917642 rs1392275447 |
27 | G>R | No |
ClinGen TOPMed |
|
|
CA7717425 rs201985502 |
28 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA275112635 rs1044565923 |
29 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs754518518 CA7717422 |
30 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA393917619 rs1598217110 |
31 | A>V | No |
ClinGen Ensembl |
|
|
rs753336841 CA7717421 |
32 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA7717419 rs199520545 |
34 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766063980 CA7717420 |
34 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1381478314 CA393917601 |
35 | N>D | No |
ClinGen TOPMed |
|
|
CA393917597 rs1435203101 |
35 | N>S | No |
ClinGen TOPMed |
|
|
rs1339674722 CA393917566 |
39 | S>I | No |
ClinGen TOPMed |
|
|
rs1224048634 CA393917554 |
41 | T>A | No |
ClinGen gnomAD |
|
|
rs750256958 CA7717418 |
41 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7717416 rs761851885 |
44 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150851656 CA275112634 |
44 | N>Y | No |
ClinGen Ensembl |
|
|
rs774269690 CA7717415 |
46 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769920098 CA7717414 |
46 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774269690 CA393917521 |
46 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs771206956 CA7717411 |
47 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393917516 rs373123404 |
47 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373123404 CA7717410 |
47 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1493559 CA393917518 COSM1493560 rs771206956 |
47 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7717408 rs772316369 |
48 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779572834 CA7717406 |
50 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs748721173 CA7717407 |
50 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs907290552 CA275112633 |
50 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs907290552 CA393917502 |
50 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs907290552 CA275112632 |
50 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs141393833 CA275112631 |
51 | G>E | No |
ClinGen Ensembl |
|
|
CA7717405 rs755466103 |
51 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA393917488 rs1434105549 CA393917487 |
52 | N>K | No |
ClinGen gnomAD |
|
|
rs753434646 CA7717404 COSM966178 |
53 | L>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753434646 CA393917486 |
53 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA393917467 rs201878520 |
56 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA275112629 rs201878520 |
56 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7717403 rs779387312 |
57 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7717402 rs527991294 |
60 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393917418 rs1489483779 |
63 | G>V | No |
ClinGen gnomAD |
|
|
rs767415545 CA7717400 |
66 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs148728207 CA275112628 |
67 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148728207 CA7717399 |
67 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220570284 CA393917383 |
68 | N>K | No |
ClinGen gnomAD |
|
|
rs1275957831 CA393917386 |
68 | N>S | No |
ClinGen gnomAD |
|
|
rs751297846 CA7717398 |
70 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs200923715 CA7717397 VAR_074602 |
71 | I>V | found in patients with CHD; unknown pathological significance [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA393917363 rs1397843265 |
72 | N>H | No |
ClinGen gnomAD |
|
|
CA393917334 rs1298685975 |
76 | I>L | No |
ClinGen gnomAD |
|
|
CA393917324 rs1598216394 |
77 | S>* | No |
ClinGen Ensembl |
|
|
CA7717395 rs776738528 |
78 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357478879 CA393917306 |
80 | I>V | No |
ClinGen gnomAD |
|
|
CA393917299 rs1178373735 |
81 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1429641565 CA393917296 |
81 | T>N | No |
ClinGen TOPMed |
|
|
rs1178373735 CA393917298 |
81 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393702070 rs1458667131 |
85 | I>M | No |
ClinGen gnomAD |
|
|
CA393702075 rs1401376854 |
85 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7717368 COSM1259663 rs770278704 COSM1259662 |
89 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs374069724 CA7717367 |
89 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374069724 CA7717366 |
89 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756950618 CA7717365 |
90 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs756950618 CA393702041 |
90 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1166039282 CA393702025 |
92 | H>R | No |
ClinGen gnomAD |
|
|
VAR_074603 rs147992979 CA7717363 |
93 | T>M | probable disease-associated variant found in patients with CHD; associated with CHD susceptibility; significantly reduced autophosphorylation; decreased NTRK3 signaling associated with decreased apoptosis in absence of NTF3 [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1441141555 CA393702010 |
94 | L>R | No |
ClinGen gnomAD |
|
|
rs765088970 CA7717360 |
96 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222179640 CA393701995 |
97 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1222179640 CA393701994 |
97 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393701988 rs1352987249 |
98 | D>Y | No |
ClinGen gnomAD |
|
|
CA393701976 CA7717358 rs368510978 |
99 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242339080 CA393701978 |
99 | M>T | No |
ClinGen gnomAD |
|
|
rs1283958846 CA393701980 |
99 | M>V | No |
ClinGen gnomAD |
|
|
CA393701964 COSM702234 rs1385327853 COSM702235 |
101 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7717355 rs751831141 |
104 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371581722 CA7717354 |
105 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868782752 CA274463122 |
106 | Q>* | No |
ClinGen Ensembl |
|
|
rs1567604216 CA393701931 |
106 | Q>H | No |
ClinGen Ensembl |
|
|
rs1359248244 CA393701932 |
106 | Q>L | No |
ClinGen gnomAD |
|
|
rs1483794485 CA393701923 |
107 | K>N | No |
ClinGen TOPMed |
|
|
rs765578547 CA7717317 |
111 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA274462431 rs961631949 |
112 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA274462435 rs961631949 |
112 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1172635262 CA393701807 |
114 | G>E | No |
ClinGen gnomAD |
|
|
rs754131028 CA7717315 |
116 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375475747 CA7717316 |
116 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7717314 rs766899479 |
117 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425590118 CA393701772 |
120 | P>A | No |
ClinGen gnomAD |
|
|
CA393701765 rs1316727129 |
121 | R>K | No |
ClinGen TOPMed |
|
|
CA274462407 rs866711936 |
122 | A>T | No |
ClinGen Ensembl |
|
|
rs761119703 CA7717313 |
126 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393701722 rs1567602337 |
127 | P>R | No |
ClinGen Ensembl |
|
|
CA393701716 rs1198214756 |
128 | H>R | No |
ClinGen gnomAD |
|
|
CA393701703 rs1222707412 |
130 | R>C | No |
ClinGen TOPMed |
|
|
COSM1629732 COSM1629733 CA7717312 rs772754430 |
130 | R>H | liver oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761441807 CA7717310 |
132 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA274434015 rs965378877 |
137 | N>K | No |
ClinGen TOPMed |
|
|
CA393700648 rs1597597919 |
137 | N>S | No |
ClinGen Ensembl |
|
|
CA7717289 rs201527669 |
138 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7717290 rs149623569 |
138 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745856667 CA7717287 |
143 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1370750502 CA393700592 |
146 | L>P | No |
ClinGen gnomAD |
|
|
rs1417899959 CA393700584 |
147 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393700571 rs368222977 |
149 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1375236 CA7717282 COSM1375235 rs368222977 |
149 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM20514 rs368222977 VAR_041471 CA7717283 |
149 | T>R | stomach a gastric adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA274433970 rs1021707498 |
151 | S>N | No |
ClinGen Ensembl |
|
|
CA393700561 rs1201534314 |
151 | S>R | No |
ClinGen gnomAD |
|
|
CA7717278 rs750731292 |
151 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs113816850 CA274433969 |
152 | L>P | No |
ClinGen Ensembl |
|
|
rs546426782 COSM197604 COSM197606 CA7717276 |
153 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7717277 COSM3927527 rs201576544 |
153 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA393700544 rs763490792 |
154 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1597597416 CA393700547 |
154 | E>G | No |
ClinGen Ensembl |
|
|
rs547862658 CA7717236 VAR_074604 |
163 | N>I | found in patients with CHD; unknown pathological significance; no change in autophosphorylation; no effect on NTRK3 signaling [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs547862658 CA7717238 |
163 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547862658 CA7717237 |
163 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA274426210 rs1007965378 |
165 | S>N | No |
ClinGen TOPMed |
|
|
CA393700429 rs1205135637 |
168 | I>S | No |
ClinGen gnomAD |
|
|
CA393700425 rs1461541348 |
169 | R>C | No |
ClinGen gnomAD |
|
|
rs201252722 CA7717235 |
169 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747682598 CA7717234 |
171 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747682598 CA393700412 |
171 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974074758 CA274426174 |
176 | E>D | No |
ClinGen Ensembl |
|
|
CA7717233 rs778539769 |
177 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA393700350 rs1319972647 |
179 | E>G | No |
ClinGen TOPMed |
|
|
CA274426161 rs961685956 |
181 | K>N | No |
ClinGen gnomAD |
|
|
rs754696733 CA7717232 |
184 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344840562 CA393700267 |
191 | N>H | No |
ClinGen TOPMed |
|
|
CA274426138 rs907362888 |
191 | N>S | No |
ClinGen TOPMed |
|
|
rs767478049 CA7717227 |
200 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761690006 CA7717226 |
201 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7717224 rs142726068 |
201 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7717225 rs142726068 |
201 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233854063 CA393700195 |
202 | M>K | No |
ClinGen gnomAD |
|
|
CA7717221 rs531943165 |
204 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531943165 CA7717220 |
204 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7717219 rs138670689 |
206 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200853661 CA274425524 |
208 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7717188 COSM325984 COSM325982 rs542205293 |
209 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA7717187 rs777599584 |
214 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221940346 CA393700092 |
215 | S>N | No |
ClinGen gnomAD |
|
|
rs145617559 CA274425502 |
216 | H>N | No |
ClinGen Ensembl |
|
|
rs1218559984 CA393700077 |
217 | V>A | No |
ClinGen gnomAD |
|
|
CA7717185 rs753910026 |
217 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761043727 CA7717183 |
219 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393700064 rs761043727 |
219 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538053675 CA7717182 |
220 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369015936 CA7717180 |
221 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467942640 CA393700052 |
222 | R>* | No |
ClinGen gnomAD |
|
|
CA393700050 rs774739739 |
222 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393700051 rs774739739 |
222 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7717179 rs774739739 |
222 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763494499 CA7717177 |
228 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763494499 CA393700013 |
228 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393700006 rs1295232120 |
229 | I>F | No |
ClinGen TOPMed |
|
|
CA274425450 rs1028093086 |
229 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7717175 rs769345939 |
230 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA393699985 rs745581273 |
232 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA7717174 COSM1600326 COSM1600327 rs745581273 |
232 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA393699982 rs1260748438 |
233 | G>S | No |
ClinGen TOPMed |
|
|
CA7717173 rs780838684 |
236 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7717172 rs558840233 |
238 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1337891089 CA393699944 |
239 | P>R | No |
ClinGen gnomAD |
|
|
rs746825531 CA7717171 |
244 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA393699910 rs746825531 |
244 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393699892 rs1567499884 |
247 | G>R | No |
ClinGen Ensembl |
|
|
rs944009917 CA274425417 |
250 | S>Y | No |
ClinGen Ensembl |
|
|
CA7717168 rs752675785 |
252 | N>S | No |
ClinGen ExAC |
|
|
CA393699811 rs1451393792 |
257 | N>S | No |
ClinGen gnomAD |
|
|
CA7717138 rs760011721 |
261 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM94877 CA393699776 rs1490692091 |
262 | N>S | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA274425001 rs867521873 |
264 | H>Y | No |
ClinGen Ensembl |
|
|
rs377057727 CA274424998 |
265 | A>D | No |
ClinGen ESP |
|
|
COSM1663169 COSM1663168 rs1567498322 CA393699753 |
266 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs774213602 CA274424993 |
267 | N>S | No |
ClinGen Ensembl |
|
|
CA393699745 rs1222848529 |
267 | N>Y | No |
ClinGen gnomAD |
|
|
rs1239415215 CA393699733 |
269 | T>A | No |
ClinGen gnomAD |
|
|
CA7717133 rs771556029 |
269 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA393699721 rs1456613305 |
271 | V>L | No |
ClinGen gnomAD |
|
|
CA393699713 rs1368068552 |
272 | N>S | No |
ClinGen gnomAD |
|
|
rs187007070 CA7717129 |
274 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187007070 CA7717130 |
274 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757402384 CA393699699 |
275 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757402384 CA7717127 |
275 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7717126 rs747005950 |
276 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs893994213 CA274424964 |
276 | E>G | No |
ClinGen TOPMed |
|
|
CA7717124 rs758497443 |
278 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7717123 rs753152048 |
279 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7717120 rs200596109 |
283 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285868825 CA393699627 |
286 | A>T | No |
ClinGen gnomAD |
|
|
rs890457420 CA274424922 |
289 | V>A | No |
ClinGen TOPMed |
|
|
rs761351571 CA7717115 |
289 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA393699598 rs1346004408 |
290 | V>A | No |
ClinGen gnomAD |
|
|
rs1225253287 CA393699601 |
290 | V>M | No |
ClinGen gnomAD |
|
|
CA7717114 rs774328292 |
292 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs774328292 CA393699588 |
292 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428669974 CA393699573 |
294 | N>H | No |
ClinGen gnomAD |
|
|
rs372972530 CA7717113 |
294 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1197588018 CA393699559 |
296 | S>G | No |
ClinGen TOPMed |
|
|
COSM124879 CA393699555 rs1469522784 |
296 | S>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs746071324 CA274424916 |
297 | V>I | No |
ClinGen Ensembl |
|
|
rs1187821886 CA393699544 |
298 | A>D | No |
ClinGen gnomAD |
|
|
CA393699546 rs1179110051 |
298 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7717110 rs769555150 |
300 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1041769350 CA274424913 |
301 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393699496 rs751051788 |
304 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751051788 CA7717078 |
304 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7717076 VAR_041472 rs56386352 |
306 | R>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA7717075 rs148888023 |
306 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393699485 rs56386352 |
306 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_041473 COSM21214 CA393699480 rs1388363572 |
307 | V>L | lung a lung adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
CA7717073 rs374464253 |
308 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374464253 CA7717074 |
308 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7717071 rs766271262 |
309 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA393699455 rs1489874218 |
311 | E>D | No |
ClinGen gnomAD |
|
|
rs774363821 CA7717069 |
311 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1294127264 CA393699446 |
312 | E>D | No |
ClinGen gnomAD |
|
|
CA393699453 rs1243717189 |
312 | E>K | No |
ClinGen gnomAD |
|
|
CA7717068 rs553060641 |
313 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA274424493 rs1052057234 |
314 | E>A | No |
ClinGen TOPMed |
|
|
COSM702252 CA393699439 COSM702253 rs1305137414 |
314 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7717066 rs763985869 |
316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201426743 COSM265729 CA7717065 COSM265727 |
316 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs746542638 CA393699389 |
321 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393699394 rs1457985391 |
321 | I>V | No |
ClinGen gnomAD |
|
|
CA393699386 COSM3387130 rs1161765368 COSM84309 |
322 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs758189455 CA7717059 |
326 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs764882745 CA7717058 |
326 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7717057 rs764882745 |
326 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393699348 rs1597506026 |
328 | N>T | No |
ClinGen Ensembl |
|
|
rs753629333 CA7717055 |
330 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1410146594 CA393699332 |
331 | P>A | No |
ClinGen TOPMed |
|
|
COSM265319 CA7717053 rs145157285 COSM265317 |
332 | T>M | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764157497 CA7717051 |
334 | H>Q | No |
ClinGen ExAC gnomAD |
|
| VAR_041474 | 336 | L>Q | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA393699293 rs1317862397 |
337 | H>Y | No |
ClinGen gnomAD |
|
|
rs1446025848 CA393699285 |
338 | N>H | No |
ClinGen TOPMed |
|
|
rs1347879205 CA393699266 |
340 | Q>H | No |
ClinGen gnomAD |
|
|
CA393699262 rs1337303639 |
341 | P>H | No |
ClinGen TOPMed |
|
|
CA7717049 rs775589367 |
341 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA393699253 rs183806623 |
343 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7717047 rs183806623 |
343 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7717048 rs373935634 |
343 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455060843 CA393699250 |
344 | E>* | No |
ClinGen gnomAD |
|
|
CA393699242 rs1597505620 |
345 | S>A | No |
ClinGen Ensembl |
|
|
CA393699237 rs1175370179 |
346 | K>E | No |
ClinGen gnomAD |
|
|
CA393699228 rs1468041467 |
347 | I>F | No |
ClinGen gnomAD |
|
|
CA393699229 rs1468041467 |
347 | I>V | No |
ClinGen gnomAD |
|
|
rs1199513223 CA393699213 |
349 | H>R | No |
ClinGen gnomAD |
|
|
CA393699208 rs1304018392 |
350 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs978156338 CA274424355 |
351 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393699163 rs1307510401 |
356 | G>R | No |
ClinGen gnomAD |
|
|
CA7717041 rs747624231 |
360 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7717040 rs778460949 |
360 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA393699115 rs1244307299 |
363 | L>V | No |
ClinGen TOPMed |
|
|
CA7717037 rs779791807 |
364 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7717038 rs779791807 |
364 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1325321519 CA393699090 |
367 | K>E | No |
ClinGen gnomAD |
|
|
CA7717035 rs750349731 |
372 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA393699052 rs750349731 |
372 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767385885 CA7717034 |
378 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393698973 rs1170728539 |
383 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7717033 rs763026651 |
386 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA7717032 rs752786275 |
387 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA393698956 rs1450125224 |
387 | A>T | No |
ClinGen gnomAD |
|
|
rs1420930233 CA393698945 |
388 | N>K | No |
ClinGen TOPMed |
|
|
CA7717031 rs765402150 |
388 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393698951 rs1173054054 |
388 | N>Y | No |
ClinGen gnomAD |
|
|
CA7717030 COSM94876 rs759785389 |
389 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs146792958 CA7717029 |
389 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA274424281 rs368226559 |
389 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA7717028 rs771405840 |
391 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7717026 rs775624230 |
392 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393698916 rs1257351492 |
393 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM556452 COSM556453 CA7717024 rs765400907 |
394 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768232238 CA7717022 |
398 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA393698885 rs1205263292 COSM1301528 COSM1301527 |
398 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7716991 rs528962824 |
403 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM2014328 COSM2014329 CA7716989 rs767919095 |
404 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750857475 CA7716990 |
404 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204238431 CA393698825 |
405 | D>G | No |
ClinGen gnomAD |
|
|
rs574695821 COSM40402 CA7716987 |
405 | D>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA393698804 rs1348238088 |
408 | I>V | No |
ClinGen gnomAD |
|
|
rs369612960 CA393698793 |
409 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764443444 CA7716986 |
409 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA393698791 rs1344737145 |
410 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7716958 rs56198207 |
411 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM283411 COSM283413 CA7716956 rs143617169 |
412 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA393698757 rs1460680404 |
413 | V>M | No |
ClinGen gnomAD |
|
|
CA393698733 rs1258263738 |
416 | T>I | No |
ClinGen TOPMed |
|
|
rs1442871238 CA393698728 |
417 | P>L | No |
ClinGen gnomAD |
|
|
CA7716954 rs770008589 |
417 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA393698727 rs970508396 |
418 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA274420420 rs970508396 |
418 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393698721 rs1186292489 |
419 | I>V | No |
ClinGen TOPMed |
|
|
CA393698713 rs1478613998 |
420 | T>A | No |
ClinGen TOPMed |
|
|
CA7716952 rs781510220 |
425 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA274420404 rs867261169 |
426 | E>K | No |
ClinGen Ensembl |
|
|
rs1298584084 CA393698654 |
428 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs140016144 CA274420399 |
429 | T>N | No |
ClinGen ESP gnomAD |
|
|
CA7716951 rs757374105 |
430 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7716931 rs771227484 |
432 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263531879 CA393698614 |
433 | S>C | No |
ClinGen TOPMed |
|
|
rs1166498193 CA393698611 |
434 | I>V | No |
ClinGen gnomAD |
|
|
CA7716930 rs370373691 |
435 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778263161 CA7716929 |
437 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs758762931 CA7716928 |
438 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA274419793 rs35582100 |
446 | L>M | No |
ClinGen Ensembl |
|
|
CA7716925 rs200206241 |
449 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398391588 CA393698509 |
450 | F>L | No |
ClinGen Ensembl |
|
|
CA7716924 rs56394626 |
451 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393698484 rs1267406722 |
454 | N>I | No |
ClinGen gnomAD |
|
|
CA393698473 rs1316688862 |
455 | K>N | No |
ClinGen gnomAD |
|
|
rs1222636508 CA393698475 |
455 | K>R | No |
ClinGen gnomAD |
|
|
rs1227883416 CA393698457 |
458 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA393698454 rs1361454724 |
458 | R>Q | No |
ClinGen TOPMed |
|
|
rs568926009 CA274419749 |
459 | R>Q | No |
ClinGen gnomAD |
|
|
rs750055690 CA7716921 COSM270776 COSM270774 |
459 | R>W | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761732265 COSM1517956 COSM1517957 CA7716919 |
464 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767212935 CA393698418 |
464 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs767212935 CA7716920 |
464 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1325723891 CA393698410 |
465 | K>R | No |
ClinGen TOPMed |
|
|
rs1294921229 CA393916950 |
466 | G>D | No |
ClinGen gnomAD |
|
|
rs780820675 CA7716884 |
467 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716883 rs757039497 |
468 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394069364 CA393916918 |
472 | S>G | No |
ClinGen gnomAD |
|
|
CA393916890 rs1404213884 |
475 | E>D | No |
ClinGen gnomAD |
|
|
rs1330829152 CA393916896 |
475 | E>K | No |
ClinGen TOPMed |
|
|
CA7716882 rs751246376 |
476 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763785589 CA7716881 |
477 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA393916854 rs1388441432 |
481 | L>R | No |
ClinGen gnomAD |
|
|
CA7716880 rs556136306 |
484 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7716879 rs752483865 |
486 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA7716878 rs2229909 |
486 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7716876 rs750565995 |
487 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767569848 CA7716875 |
489 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716874 rs761822626 |
490 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482426106 CA393916727 |
491 | P>S | No |
ClinGen gnomAD |
|
|
rs768882070 CA7716872 |
492 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA393916696 rs1305656648 |
494 | L>V | No |
ClinGen gnomAD |
|
|
rs112443158 CA275100007 |
495 | D>N | No |
ClinGen gnomAD |
|
|
CA7716870 rs775901634 |
496 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775901634 COSM375625 COSM375626 CA275100006 |
496 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770581794 CA7716866 |
497 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716865 rs142761098 |
498 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368708129 RCV000766169 CA7716863 |
499 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs960610021 CA393916590 |
500 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA275100005 rs960610021 |
500 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA275100003 rs778762123 |
506 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716861 rs778762123 |
506 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548610351 CA7716860 |
507 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140370971 CA7716858 |
507 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140370971 CA7716859 |
507 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393916397 rs1480340273 |
512 | E>G | No |
ClinGen gnomAD |
|
|
CA7716857 rs761912721 |
514 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473621384 CA393916354 |
517 | F>C | No |
ClinGen TOPMed |
|
|
rs1183659226 CA393916353 |
517 | F>L | No |
ClinGen gnomAD |
|
|
rs374272958 CA7716854 COSM3701028 COSM3701027 |
518 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7716853 rs147160868 |
518 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393916346 rs1567260227 |
519 | Q>E | No |
ClinGen Ensembl |
|
|
rs759925027 CA7716851 |
524 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs371590703 CA275100001 |
526 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA393916292 rs1424561385 |
526 | P>S | No |
ClinGen TOPMed |
|
|
rs771528405 CA7716849 |
527 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs199642370 CA7716848 |
528 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1290172125 CA393916280 |
528 | T>S | No |
ClinGen gnomAD |
|
|
CA393915810 rs1210999235 |
530 | V>M | No |
ClinGen gnomAD |
|
|
CA7716752 rs757573108 |
531 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_074605 rs869112057 CA275087812 |
533 | I>F | probable disease-associated variant found in patients with CHD; associated with CHD susceptibility; no change in autophosphorylation; changed NTRK3 signaling with decreased apoptosis in absence of NTF3 [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs778280626 CA7716750 |
534 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA393915747 rs547749746 |
539 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1708512 CA7716748 rs547749746 |
539 | V>M | liver skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7716747 rs764653626 |
542 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1313486936 CA393915728 |
542 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA393915676 rs1367864611 |
550 | G>E | No |
ClinGen TOPMed |
|
|
rs1008840745 CA275087810 |
551 | K>R | No |
ClinGen Ensembl |
|
|
CA393915652 rs1170771297 |
554 | L>M | No |
ClinGen gnomAD |
|
|
rs371770675 CA7716744 |
556 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760579249 CA7716743 |
558 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA7716742 rs144745222 |
560 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1381951189 CA393915588 |
561 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1645384 CA7716741 rs767613437 |
562 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs994648372 CA275087809 |
562 | P>T | No |
ClinGen Ensembl |
|
|
rs112308601 CA275087808 |
563 | T>A | No |
ClinGen Ensembl |
|
|
CA275087807 rs140982180 |
565 | D>E | No |
ClinGen ESP |
|
|
CA275087806 rs1005004601 |
566 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1233225505 CA393915452 |
570 | A>V | No |
ClinGen TOPMed |
|
|
rs74441360 CA7716736 |
571 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1263462518 CA393914716 |
573 | A>V | No |
ClinGen gnomAD |
|
|
rs772443761 CA7716712 |
576 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395756451 CA393914700 COSM222302 |
576 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1456055401 CA393914689 |
577 | P>H | No |
ClinGen gnomAD |
|
|
CA393914688 rs1456055401 |
577 | P>L | No |
ClinGen gnomAD |
|
|
rs202056599 CA7716710 |
582 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374759890 COSM434485 CA7716711 |
582 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs771172350 CA275086866 |
583 | K>E | No |
ClinGen Ensembl |
|
|
rs779604028 CA393914632 |
586 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195860832 CA393914615 |
589 | A>T | No |
ClinGen TOPMed |
|
|
rs780933441 CA7716705 |
590 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716704 rs780933441 |
590 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236837453 CA393914554 |
598 | E>A | No |
ClinGen gnomAD |
|
|
CA393914551 rs751327117 |
598 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472546764 CA393914540 |
600 | I>V | No |
ClinGen TOPMed |
|
|
CA393914519 rs763974843 |
603 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs763974843 CA7716701 |
603 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA393914492 rs1567123399 |
607 | C>R | No |
ClinGen Ensembl |
|
|
COSM88799 CA7716697 rs760692815 |
608 | G>S | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772244244 CA7716695 COSM471203 |
609 | D>N | kidney urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7716692 rs769103064 |
612 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716693 rs373273419 |
612 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7716694 rs373273419 |
612 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393914426 rs1193867018 |
617 | F>V | No |
ClinGen gnomAD |
|
|
rs1276516004 CA393914411 |
619 | Y>H | No |
ClinGen gnomAD |
|
|
CA275086864 rs767629161 |
622 | H>Q | No |
ClinGen Ensembl |
|
|
rs1213114061 CA393914351 |
627 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780640831 CA7716690 |
628 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs56300182 CA7716642 |
631 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7716641 rs764415972 |
632 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA275086419 rs1007258350 |
635 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs765690534 CA7716638 |
636 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA393914268 rs1234708660 |
637 | M>I | No |
ClinGen gnomAD |
|
|
CA7716637 rs759908835 |
637 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369034756 CA7716635 |
638 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393914264 rs1293331164 |
638 | I>N | No |
ClinGen gnomAD |
|
|
rs777287685 CA7716636 |
638 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393914256 rs1445009556 |
639 | L>P | No |
ClinGen TOPMed |
|
|
CA393914251 rs1362573987 |
640 | V>A | No |
ClinGen gnomAD |
|
|
rs771818173 CA7716632 |
644 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs139392904 CA7716631 |
645 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393914220 rs1429499898 |
645 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7716629 rs768453656 |
647 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7716630 rs773928913 |
647 | A>T | No |
ClinGen ExAC |
|
|
rs891767826 CA393914197 |
649 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs891767826 CA275086416 |
649 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393914171 rs1186552712 |
653 | L>F | No |
ClinGen gnomAD |
|
|
CA7716626 rs769585850 |
654 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1211226270 CA393914156 |
655 | Q>H | No |
ClinGen gnomAD |
|
|
rs747160751 CA7716625 |
657 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs747160751 CA393914145 |
657 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1249331416 CA393914131 |
659 | I>V | No |
ClinGen gnomAD |
|
|
CA393914118 rs1229373782 |
661 | S>G | No |
ClinGen gnomAD |
|
|
CA7716624 rs777697842 |
662 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA393914102 rs1311977254 |
663 | I>N | No |
ClinGen gnomAD |
|
|
rs55777156 CA275086414 |
663 | I>V | No |
ClinGen Ensembl |
|
| VAR_046521 | 664 | A>S | a lung carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA7716622 rs371959662 |
664 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393914094 rs1471351618 |
664 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766961809 CA7716618 |
667 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716617 rs761075951 |
668 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA393914041 rs1473930411 |
673 | Q>* | No |
ClinGen gnomAD |
|
| VAR_041475 | 677 | H>Y | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
COSM197586 CA393914004 rs1419472052 |
678 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
VAR_041476 rs55890138 CA275086411 COSM612 |
678 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1188558348 CA393913935 |
689 | A>T | No |
ClinGen Ensembl |
|
|
rs144852342 CA7716608 |
689 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7716606 rs267604361 |
691 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA275086409 rs866108754 |
694 | K>* | No |
ClinGen Ensembl |
|
|
rs779320655 COSM1317740 CA7716604 |
695 | I>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1324462511 CA393913868 |
699 | G>D | No |
ClinGen gnomAD |
|
|
CA393913863 rs1395868612 |
700 | M>T | No |
ClinGen gnomAD |
|
|
rs754290790 CA7716602 |
700 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA393913831 rs1323245430 |
705 | Y>H | No |
ClinGen gnomAD |
|
|
CA7716601 rs776296223 |
707 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393915928 rs1379390446 |
712 | L>V | No |
ClinGen gnomAD |
|
|
rs1439739326 CA393915910 |
714 | N>K | No |
ClinGen gnomAD |
|
|
rs760689520 CA7716571 |
714 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393915894 rs1356132620 |
717 | G>* | No |
ClinGen gnomAD |
|
|
rs1331800469 CA393915893 |
717 | G>E | No |
ClinGen gnomAD |
|
|
CA393915885 rs1460807501 |
718 | N>I | No |
ClinGen gnomAD |
|
|
rs773219907 CA7716570 |
721 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1008274906 CA275080804 |
722 | I>M | No |
ClinGen TOPMed |
|
|
rs992277385 CA275080803 |
723 | W>R | No |
ClinGen TOPMed |
|
|
rs548020038 CA393915830 |
725 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1596083914 CA393915837 |
725 | E>K | No |
ClinGen Ensembl |
|
|
CA7716551 rs766284968 |
726 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7716550 rs760489177 |
728 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1335029978 CA393915552 |
730 | T>S | No |
ClinGen TOPMed |
|
|
rs1255415226 CA393915518 |
732 | L>H | No |
ClinGen gnomAD |
|
|
CA393915492 rs1478926904 |
735 | R>C | No |
ClinGen gnomAD |
|
| VAR_046770 | 735 | R>F | a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions [UniProt] | No | UniProt |
| VAR_046522 | 736 | W>C | a lung carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA393915440 rs1192356629 |
739 | P>T | No |
ClinGen gnomAD |
|
|
rs750407882 CA7716549 |
742 | I>V | No |
ClinGen ExAC gnomAD |
|
| VAR_046523 | 745 | R>P | a lung carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs767450627 COSM78209 CA7716548 |
745 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7716545 rs369115841 |
748 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759750049 CA7716544 |
749 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA393915352 rs1366437707 |
750 | E>K | No |
ClinGen TOPMed |
|
|
rs1254833073 CA393915312 |
755 | S>G | No |
ClinGen TOPMed |
|
|
rs1361200565 CA393915296 |
757 | G>R | No |
ClinGen gnomAD |
|
|
CA393915277 rs1287141229 |
760 | L>I | No |
ClinGen gnomAD |
|
|
COSM3690587 rs1361372348 CA393915255 |
762 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA393915239 rs1596062470 |
765 | T>P | No |
ClinGen Ensembl |
|
|
CA7716539 rs772598156 COSM1375184 |
766 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| VAR_046524 | 766 | Y>F | a lung carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA7716540 rs778172624 COSM1375186 |
766 | Y>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7716537 VAR_046771 rs55770052 |
768 | K>R | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs139603689 CA275080189 |
773 | Q>P | No |
ClinGen Ensembl |
|
|
CA275080186 rs866665755 |
775 | S>L | No |
ClinGen Ensembl |
|
|
CA275080187 rs140907621 |
775 | S>P | No |
ClinGen ESP |
|
|
CA7716536 rs754383313 |
777 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA275079761 rs898672542 |
780 | I>M | No |
ClinGen Ensembl |
|
|
VAR_046772 rs56393451 CA275079760 |
781 | E>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA393915112 rs1466525033 |
782 | C>R | No |
ClinGen TOPMed |
|
|
rs548727485 CA7716506 COSM1663166 |
787 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs370533197 CA7716505 |
787 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760884803 CA7716504 |
790 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7716502 rs767941638 |
791 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7716503 rs773244598 |
791 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA393915047 rs1266259629 |
792 | P>R | No |
ClinGen gnomAD |
|
|
CA275079759 rs878997142 |
793 | R>* | No |
ClinGen Ensembl |
|
|
CA7716501 rs367985043 |
793 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7716499 rs769255062 |
794 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940256069 CA275079758 |
797 | K>E | No |
ClinGen TOPMed |
|
|
rs1448022042 CA393915020 |
797 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1392336886 CA393914991 |
801 | D>G | No |
ClinGen gnomAD |
|
|
rs199690201 CA7716497 |
801 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769635482 CA7716496 |
802 | V>I | No |
ClinGen ExAC |
|
|
rs745537342 CA7716495 |
803 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs780649803 CA7716494 |
805 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1198926876 CA393914945 |
808 | Q>* | No |
ClinGen gnomAD |
|
|
COSM1708506 rs550257984 CA7716493 |
810 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1191745945 CA393914900 |
814 | R>Q | No |
ClinGen gnomAD |
|
|
CA7716492 rs746738110 |
814 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs78821883 CA275079755 |
815 | L>V | No |
ClinGen gnomAD |
|
|
VAR_074606 CA275079753 rs869209165 |
817 | I>M | probable disease-associated variant found in patients with CHD; associated with CHD susceptibility; no change in autophosphorylation; changed NTRK3 signaling with decreased apoptosis in absence of NTF3 [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
rs1297517514 CA393914873 |
818 | K>R | No |
ClinGen gnomAD |
|
|
rs1297517514 CA393914874 |
818 | K>T | No |
ClinGen gnomAD |
|
|
rs370821577 CA7716489 |
819 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393914868 rs1189216024 |
819 | E>Q | No |
ClinGen TOPMed |
|
|
rs143523682 CA275079752 |
820 | I>T | No |
ClinGen ESP |
|
|
rs766455393 CA7716488 |
821 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767594347 CA7716485 |
822 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7716486 rs750684638 |
822 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7716483 rs774558650 |
825 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7716482 rs764757272 |
826 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1299718659 CA393914819 |
826 | A>V | No |
ClinGen gnomAD |
|
|
rs1394182121 CA393914797 |
830 | A>T | No |
ClinGen gnomAD |
|
|
rs1378163546 CA393914786 |
831 | T>I | No |
ClinGen gnomAD |
|
|
rs1478939691 CA393914791 |
831 | T>P | No |
ClinGen gnomAD |
|
|
rs1445400901 CA393914768 |
834 | Y>C | No |
ClinGen gnomAD |
|
|
CA393914750 rs1567060117 |
837 | I>V | No |
ClinGen Ensembl |
|
|
rs1265589434 CA393914735 |
839 | G>D | No |
ClinGen gnomAD |
1 associated diseases with Q16288
Without disease ID
14 regional properties for Q16288
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Leucine-rich repeat N-terminal domain | 31 - 63 | IPR000372 |
| domain | Cysteine-rich flanking region, C-terminal | 160 - 208 | IPR000483 |
| domain | Protein kinase domain | 538 - 828 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 539 - 823 | IPR001245 |
| repeat | Leucine-rich repeat | 104 - 160 | IPR001611 |
| conserved_site | Tyrosine-protein kinase, receptor class II, conserved site | 703 - 711 | IPR002011 |
| domain | Immunoglobulin subtype | 216 - 302 | IPR003599 |
| domain | Immunoglobulin-like domain | 210 - 300 | IPR007110 |
| active_site | Tyrosine-protein kinase, active site | 675 - 687 | IPR008266 |
| domain | Immunoglobulin I-set | 323 - 391 | IPR013098 |
| domain | Immunoglobulin-like beta-sandwich domain | 218 - 296 | IPR013151 |
| binding_site | Protein kinase, ATP binding site | 544 - 572 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 538 - 824 | IPR020635 |
| domain | Growth factor receptor NTRK, leucine rich repeat C-terminal | 163 - 208 | IPR031635 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| neurotrophin binding | Binding to a neurotrophin, any of a family of growth factors that prevent apoptosis in neurons and promote nerve growth. |
| neurotrophin receptor activity | Combining with a neurotrophin, any of a family of growth factors that prevent apoptosis in neurons and promote nerve growth, and transmitting the signal to initiate a change in cell activity. |
| p53 binding | Binding to one of the p53 family of proteins. |
| transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| activation of protein kinase B activity | Any process that initiates the activity of the inactive enzyme protein kinase B. |
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to nerve growth factor stimulus | A process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nerve growth factor stimulus. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| negative regulation of protein phosphorylation | Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of MAP kinase activity | Any process that activates or increases the frequency, rate or extent of MAP kinase activity. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| positive regulation of positive chemotaxis | Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism towards a higher concentration in a concentration gradient of a specific chemical. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | Any process that modulates the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
67 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q91987 | NTRK2 | BDNF/NT-3 growth factors receptor | Gallus gallus (Chicken) | SS |
| Q91009 | NTRK1 | High affinity nerve growth factor receptor | Gallus gallus (Chicken) | SS |
| Q8AXY6 | MUSK | Muscle, skeletal receptor tyrosine protein kinase | Gallus gallus (Chicken) | SS |
| Q91044 | NTRK3 | NT-3 growth factor receptor | Gallus gallus (Chicken) | SS |
| Q5IS37 | NTRK3 | NT-3 growth factor receptor | Pan troglodytes (Chimpanzee) | SS |
| Q24488 | Ror | Tyrosine-protein kinase transmembrane receptor Ror | Drosophila melanogaster (Fruit fly) | SS |
| Q9V6K3 | Nrk | Tyrosine-protein kinase transmembrane receptor Ror2 | Drosophila melanogaster (Fruit fly) | SS |
| P07949 | RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Homo sapiens (Human) | EV |
| O15146 | MUSK | Muscle, skeletal receptor tyrosine-protein kinase | Homo sapiens (Human) | EV |
| Q01974 | ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Homo sapiens (Human) | EV |
| Q01973 | ROR1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Homo sapiens (Human) | PR |
| Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Homo sapiens (Human) | SS |
| Q08345 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Homo sapiens (Human) | EV |
| Q16620 | NTRK2 | BDNF/NT-3 growth factors receptor | Homo sapiens (Human) | EV |
| P04629 | NTRK1 | High affinity nerve growth factor receptor | Homo sapiens (Human) | EV |
| P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Homo sapiens (Human) | SS |
| P17948 | FLT1 | Vascular endothelial growth factor receptor 1 | Homo sapiens (Human) | SS |
| P35968 | KDR | Vascular endothelial growth factor receptor 2 | Homo sapiens (Human) | EV |
| P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
| P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
| P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
| P29376 | LTK | Leukocyte tyrosine kinase receptor | Homo sapiens (Human) | SS |
| Q9UM73 | ALK | ALK tyrosine kinase receptor | Homo sapiens (Human) | EV |
| P08922 | ROS1 | Proto-oncogene tyrosine-protein kinase ROS | Homo sapiens (Human) | SS |
| P14616 | INSRR | Insulin receptor-related protein | Homo sapiens (Human) | SS |
| P08069 | IGF1R | Insulin-like growth factor 1 receptor | Homo sapiens (Human) | EV |
| P06213 | INSR | Insulin receptor | Homo sapiens (Human) | EV |
| P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
| P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
| P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Homo sapiens (Human) | SS |
| P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Homo sapiens (Human) | EV |
| Q12866 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens (Human) | EV |
| Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
| P30530 | AXL | Tyrosine-protein kinase receptor UFO | Homo sapiens (Human) | PR |
| Q06418 | TYRO3 | Tyrosine-protein kinase receptor TYRO3 | Homo sapiens (Human) | SS |
| P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
| P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Homo sapiens (Human) | SS |
| Q15303 | ERBB4 | Receptor tyrosine-protein kinase erbB-4 | Homo sapiens (Human) | SS |
| P21860 | ERBB3 | Receptor tyrosine-protein kinase erbB-3 | Homo sapiens (Human) | SS |
| P00533 | EGFR | Epidermal growth factor receptor | Homo sapiens (Human) | EV |
| P34925 | RYK | Tyrosine-protein kinase RYK | Homo sapiens (Human) | PR |
| Q02763 | TEK | Angiopoietin-1 receptor | Homo sapiens (Human) | SS |
| P35590 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Homo sapiens (Human) | PR |
| P10721 | KIT | Mast/stem cell growth factor receptor Kit | Homo sapiens (Human) | EV |
| P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
| P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
| P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Homo sapiens (Human) | EV |
| P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
| P15209 | Ntrk2 | BDNF/NT-3 growth factors receptor | Mus musculus (Mouse) | SS |
| Q3UFB7 | Ntrk1 | High affinity nerve growth factor receptor | Mus musculus (Mouse) | SS |
| Q61006 | Musk | Muscle, skeletal receptor tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| Q9Z138 | Ror2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Mus musculus (Mouse) | SS |
| Q9Z139 | Ror1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Mus musculus (Mouse) | PR |
| Q6VNS1 | Ntrk3 | NT-3 growth factor receptor | Mus musculus (Mouse) | SS |
| P24786 | NTRK3 | NT-3 growth factor receptor | Sus scrofa (Pig) | SS |
| Q62838 | Musk | Muscle, skeletal receptor tyrosine protein kinase | Rattus norvegicus (Rat) | SS |
| P35739 | Ntrk1 | High affinity nerve growth factor receptor | Rattus norvegicus (Rat) | SS |
| Q63604 | Ntrk2 | BDNF/NT-3 growth factors receptor | Rattus norvegicus (Rat) | SS |
| Q03351 | Ntrk3 | NT-3 growth factor receptor | Rattus norvegicus (Rat) | SS |
| G5EGK5 | cam-1 | Tyrosine-protein kinase receptor cam-1 | Caenorhabditis elegans | SS |
| P43298 | TMK1 | Receptor protein kinase TMK1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LPS5 | SERK5 | Somatic embryogenesis receptor kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94C77 | At4g34220 | Receptor protein kinase-like protein At4g34220 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93ZS4 | NIK3 | Protein NSP-INTERACTING KINASE 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9XIC7 | SERK2 | Somatic embryogenesis receptor kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| C0LGX1 | At5g65240 | Probable LRR receptor-like serine/threonine-protein kinase At5g65240 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LFG1 | At3g53590 | Putative leucine-rich repeat receptor-like serine/threonine-protein kinase At3g53590 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVSLCPAKC | SFWRIFLLGS | VWLDYVGSVL | ACPANCVCSK | TEINCRRPDD | GNLFPLLEGQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DSGNSNGNAS | INITDISRNI | TSIHIENWRS | LHTLNAVDME | LYTGLQKLTI | KNSGLRSIQP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RAFAKNPHLR | YINLSSNRLT | TLSWQLFQTL | SLRELQLEQN | FFNCSCDIRW | MQLWQEQGEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLNSQNLYCI | NADGSQLPLF | RMNISQCDLP | EISVSHVNLT | VREGDNAVIT | CNGSGSPLPD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDWIVTGLQS | INTHQTNLNW | TNVHAINLTL | VNVTSEDNGF | TLTCIAENVV | GMSNASVALT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VYYPPRVVSL | EEPELRLEHC | IEFVVRGNPP | PTLHWLHNGQ | PLRESKIIHV | EYYQEGEISE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GCLLFNKPTH | YNNGNYTLIA | KNPLGTANQT | INGHFLKEPF | PESTDNFILF | DEVSPTPPIT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VTHKPEEDTF | GVSIAVGLAA | FACVLLVVLF | VMINKYGRRS | KFGMKGPVAV | ISGEEDSASP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LHHINHGITT | PSSLDAGPDT | VVIGMTRIPV | IENPQYFRQG | HNCHKPDTYV | QHIKRRDIVL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KRELGEGAFG | KVFLAECYNL | SPTKDKMLVA | VKALKDPTLA | ARKDFQREAE | LLTNLQHEHI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VKFYGVCGDG | DPLIMVFEYM | KHGDLNKFLR | AHGPDAMILV | DGQPRQAKGE | LGLSQMLHIA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SQIASGMVYL | ASQHFVHRDL | ATRNCLVGAN | LLVKIGDFGM | SRDVYSTDYY | RLFNPSGNDF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CIWCEVGGHT | MLPIRWMPPE | SIMYRKFTTE | SDVWSFGVIL | WEIFTYGKQP | WFQLSNTEVI |
| 790 | 800 | 810 | 820 | 830 | |
| ECITQGRVLE | RPRVCPKEVY | DVMLGCWQRE | PQQRLNIKEI | YKILHALGKA | TPIYLDILG |