P14618
EV
Gene name |
PKM (OIP3, PK2, PK3, PKM2) |
Protein name |
Pyruvate kinase PKM |
Names |
EC 2.7.1.40 , Cytosolic thyroid hormone-binding protein , CTHBP , Opa-interacting protein 3 , OIP-3 , Pyruvate kinase 2/3 , Pyruvate kinase muscle isozyme , Threonine-protein kinase PKM2 , EC 2.7.11.1 , Thyroid hormone-binding protein 1 , THBP1 , Tumor M2-PK , Tyrosine-protein kinase PKM2 , EC 2.7.10.2 , p58 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5315 |
EC number |
2.7.1.40: Phosphotransferases with an alcohol group as acceptor |
Protein Class |
PYRUVATE KINASE (PTHR11817) |
Descriptions
Pyruvate kinase M2 (PKM2) plays a vital role in glycolysis, and it catalyzes the conversion of phosphoenolpyruvate to pyruvate with the production of ATP in the final reaction of glycolysis. PKM2 provides an in vivo growth advantage in cancer cells. Pyruvate Kinase isozymes type PKM1, PKL, and PKR exist in unstable and high-activity tetramer forms, whereas PKM2 is found in both a highly active tetramer form and a low-activity dimer form. The switch between dimer and tetramer is allosterically modulated by the binding of ligands such as amino acids and metabolic intermediates to the regulatory C-terminal domain. Post-translational modifications at specific residues relieve this inhibition, allowing metabolic flux.
Autoinhibitory domains (AIDs)
Target domain |
43-375 (Pyruvate kinase) |
Relief mechanism |
PTM, Partner binding |
Assay |
Structural analysis, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
56 structures for P14618
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1T5A | X-ray | 280 A | A/B/C/D | 1-531 | PDB |
| 1ZJH | X-ray | 220 A | A | 3-531 | PDB |
| 3BJF | X-ray | 203 A | A/B/C/D | 14-531 | PDB |
| 3BJT | X-ray | 250 A | A/B/C/D | 2-531 | PDB |
| 3G2G | X-ray | 200 A | A/B/C/D | 1-531 | PDB |
| 3GQY | X-ray | 185 A | A/B/C/D | 1-531 | PDB |
| 3GR4 | X-ray | 160 A | A/B/C/D | 1-531 | PDB |
| 3H6O | X-ray | 200 A | A/B/C/D | 1-531 | PDB |
| 3ME3 | X-ray | 195 A | A/B/C/D | 1-531 | PDB |
| 3SRD | X-ray | 290 A | A/B/C/D | 1-531 | PDB |
| 3SRF | X-ray | 284 A | A/B/C/D/E/F/G/H | 1-531 | PDB |
| 3SRH | X-ray | 260 A | A/B/C/D | 1-531 | PDB |
| 3U2Z | X-ray | 210 A | A/B/C/D | 1-531 | PDB |
| 4B2D | X-ray | 230 A | A/B/C/D | 2-531 | PDB |
| 4FXF | X-ray | 255 A | A/B/C/D | 1-531 | PDB |
| 4FXJ | X-ray | 290 A | A/B/C/D | 1-531 | PDB |
| 4G1N | X-ray | 230 A | A/B/C/D | 14-531 | PDB |
| 4JPG | X-ray | 233 A | A/B/C/D | 1-531 | PDB |
| 4QG6 | X-ray | 321 A | A/B/C/D | 1-531 | PDB |
| 4QG8 | X-ray | 230 A | A/B/C/D | 1-531 | PDB |
| 4QG9 | X-ray | 238 A | A/B/C/D | 1-531 | PDB |
| 4QGC | X-ray | 230 A | A/B/C/D | 1-531 | PDB |
| 4RPP | X-ray | 258 A | A/B/C/D | 1-531 | PDB |
| 4WJ8 | X-ray | 287 A | A/B/C/D | 1-531 | PDB |
| 4YJ5 | X-ray | 241 A | A/B/C/D | 14-531 | PDB |
| 5X0I | X-ray | 264 A | A/B/C/D | 1-531 | PDB |
| 5X1V | X-ray | 210 A | A/B/C/D | 1-531 | PDB |
| 5X1W | X-ray | 300 A | A/B/C/D | 1-531 | PDB |
| 6B6U | X-ray | 135 A | A/B | 7-531 | PDB |
| 6GG3 | X-ray | 372 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-531 | PDB |
| 6GG4 | X-ray | 246 A | A/B/C/D | 1-531 | PDB |
| 6GG5 | X-ray | 320 A | A/B/C/D | 1-531 | PDB |
| 6GG6 | X-ray | 296 A | A/B/C/D/E/F/G/H | 1-531 | PDB |
| 6JFB | X-ray | 212 A | A/B/C/D | 1-531 | PDB |
| 6NU1 | X-ray | 225 A | A/B/C/D | 1-531 | PDB |
| 6NU5 | X-ray | 160 A | A/B | 1-531 | PDB |
| 6NUB | X-ray | 170 A | A/B | 1-531 | PDB |
| 6TTF | EM | 320 A | A/B/C/D | 2-531 | PDB |
| 6TTH | EM | 260 A | A/B/C/D | 2-531 | PDB |
| 6TTI | EM | 250 A | A/B/C/D | 2-531 | PDB |
| 6TTQ | EM | 270 A | A/B/C/D | 2-531 | PDB |
| 6V74 | X-ray | 232 A | A/B/C/D | 1-531 | PDB |
| 6V75 | X-ray | 285 A | A/B/C/D | 1-531 | PDB |
| 6V76 | X-ray | 275 A | A/B/C/D | 1-531 | PDB |
| 6WP3 | X-ray | 184 A | A/B | 1-531 | PDB |
| 6WP4 | X-ray | 190 A | A/B/C/D | 1-531 | PDB |
| 6WP5 | X-ray | 217 A | A/B/C/D | 1-531 | PDB |
| 6WP6 | X-ray | 245 A | A/C | 1-531 | PDB |
| 7L21 | X-ray | 229 A | A/B/C/D | 1-531 | PDB |
| 8G2E | X-ray | 184 A | A | 1-531 | PDB |
| 8HGF | X-ray | 310 A | A/B/C/D | 1-531 | PDB |
| 8HMQ | X-ray | 250 A | A/B/C/D | 1-531 | PDB |
| 8HMR | X-ray | 260 A | A/B/C/D | 1-531 | PDB |
| 8HMS | X-ray | 210 A | A/B/C/D | 1-531 | PDB |
| 8HMU | X-ray | 250 A | A/B/C/D | 1-531 | PDB |
| AF-P14618-F1 | Predicted | AlphaFoldDB |
526 variants for P14618
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs879255367 RCV000238593 RCV002519859 CA10586021 |
265 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| rs752256480 | 2 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs752256480 | 2 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs765586509 | 4 | P>S | No | Ensembl | |
| rs765586509 | 4 | P>T | No | Ensembl | |
| rs1369048182 | 5 | H>R | No |
TOPMed gnomAD |
|
| rs935222912 | 6 | S>N | No | TOPMed | |
| rs1414758519 | 7 | E>K | No |
TOPMed gnomAD |
|
| rs771031079 | 8 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs771031079 | 8 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs773642369 | 9 | G>R | No |
TOPMed gnomAD |
|
| rs1402959639 | 10 | T>A | No | gnomAD | |
| rs971491249 | 11 | A>T | No |
TOPMed gnomAD |
|
|
COSM3503692 COSM1708354 COSM1708353 |
12 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567126047 | 14 | Q>* | No | Ensembl | |
| rs762171328 | 14 | Q>R | No |
ExAC gnomAD |
|
| rs1172353829 | 15 | T>I | No | gnomAD | |
| rs758665891 | 16 | Q>E | No | Ensembl | |
| rs11558365 | 16 | Q>H | No | Ensembl | |
| rs774838196 | 19 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1453007171 | 19 | H>Y | No |
TOPMed gnomAD |
|
| rs1193900724 | 20 | A>S | No | gnomAD | |
| TCGA novel | 21 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1555443359 | 23 | A>T | No | Ensembl | |
| rs572317094 | 25 | T>I | No |
ExAC gnomAD |
|
| rs572317094 | 25 | T>K | No |
ExAC gnomAD |
|
| rs768130469 | 26 | F>S | No | Ensembl | |
| rs768130469 | 26 | F>Y | No | Ensembl | |
| rs11558360 | 28 | E>K | No | gnomAD | |
| rs2140748171 | 30 | M>I | No | Ensembl | |
| rs11558375 | 31 | C>F | No | Ensembl | |
|
COSM4056671 rs776788433 COSM4056672 COSM4056670 |
32 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs771046142 | 32 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs771046142 | 32 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs746913899 | 33 | L>M | No |
ExAC gnomAD |
|
| rs2082450098 | 37 | S>* | No |
TOPMed gnomAD |
|
| rs1596781655 | 38 | P>A | No | Ensembl | |
| rs1596781614 | 39 | P>T | No | Ensembl | |
| rs2082449274 | 41 | T>I | No | TOPMed | |
| rs2082448924 | 42 | A>S | No | Ensembl | |
| rs751844009 | 42 | A>V | No | Ensembl | |
| rs1287207302 | 43 | R>W | No | gnomAD | |
| rs778625515 | 44 | N>K | No | Ensembl | |
| rs768641631 | 45 | T>S | No | Ensembl | |
| rs994161963 | 46 | G>A | No | gnomAD | |
|
COSM6142830 COSM6142832 COSM6142831 |
46 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747927716 | 47 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1397305579 | 48 | I>V | No |
TOPMed gnomAD |
|
| rs1555443290 | 49 | C>R | No | Ensembl | |
| rs1567125642 | 49 | C>S | No | Ensembl | |
|
COSM4056669 COSM4056667 COSM4056668 |
49 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1173798280 | 50 | T>A | No | gnomAD | |
| rs2082405144 | 54 | A>V | No | Ensembl | |
|
COSM5537133 COSM5537134 |
55 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs776915656 COSM246611 |
56 | R>* | prostate [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs776915656 | 56 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs147939689 | 56 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1567123840 | 57 | S>T | No | Ensembl | |
| rs201533100 | 58 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs569328016 | 58 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2140734381 | 59 | E>A | No | Ensembl | |
| rs1473418252 | 60 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs772005964 | 60 | T>S | No |
ExAC gnomAD |
|
| rs780982133 | 62 | K>* | No | Ensembl | |
| rs1406017814 | 62 | K>R | No |
TOPMed gnomAD |
|
| rs2082404165 | 64 | M>I | No | TOPMed | |
| rs768357296 | 65 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs748936913 | 66 | K>E | No |
ExAC gnomAD |
|
| rs1254149879 | 66 | K>N | No | gnomAD | |
| rs890928967 | 67 | S>A | No |
TOPMed gnomAD |
|
| rs779578835 | 69 | M>K | No |
ExAC gnomAD |
|
| rs1403251338 | 72 | A>S | No | TOPMed | |
| rs778178909 | 72 | A>V | No |
ExAC gnomAD |
|
| rs758876296 | 73 | R>P | No |
ExAC gnomAD |
|
| rs765688801 | 74 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs765688801 | 74 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1216580560 | 76 | F>S | No |
TOPMed gnomAD |
|
| rs2082402872 | 77 | S>C | No | TOPMed | |
| rs1555442852 | 77 | S>T | No | Ensembl | |
| rs2082402689 | 79 | G>E | No | TOPMed | |
| rs201467423 | 80 | T>A | No | 1000Genomes | |
| rs754087147 | 80 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs754087147 | 80 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs766571366 | 81 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM3887420 rs1342416866 COSM3887419 |
81 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs767632371 | 83 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1228145707 | 84 | H>Y | No | TOPMed | |
|
COSM1374398 rs772455998 COSM1374397 COSM4253770 |
85 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2082223139 | 86 | E>A | No | TOPMed | |
| rs868062740 | 87 | T>I | No | TOPMed | |
| rs868062740 | 87 | T>S | No | TOPMed | |
| rs1596752263 | 88 | I>F | No | Ensembl | |
| rs1596752263 | 88 | I>V | No | Ensembl | |
| rs763971278 | 92 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1052704891 | 92 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1052704891 | 92 | R>L | No |
TOPMed gnomAD |
|
| rs762772563 | 93 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1316999324 | 94 | A>V | No | gnomAD | |
| rs1555441168 | 95 | T>A | No | TOPMed | |
| rs769348131 | 97 | S>G | No |
ExAC gnomAD |
|
| rs745524821 | 97 | S>N | No |
ExAC gnomAD |
|
| rs1465320277 | 98 | F>L | No | gnomAD | |
| rs1393077518 | 100 | S>C | No | gnomAD | |
| rs771484755 | 100 | S>T | No | Ensembl | |
| rs1596752001 | 101 | D>A | No | Ensembl | |
| rs1448084023 | 101 | D>H | No |
TOPMed gnomAD |
|
|
COSM4834058 COSM4834060 COSM4834059 |
101 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776042746 | 102 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs776042746 | 102 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1596751985 | 102 | P>S | No | Ensembl | |
| rs770540965 | 103 | I>S | No |
ExAC gnomAD |
|
| rs1455760168 | 103 | I>V | No | gnomAD | |
| rs746464820 | 104 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs746464820 | 104 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs746464820 | 104 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs755468302 | 106 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs953364091 | 106 | R>W | No |
TOPMed gnomAD |
|
|
COSM4404025 COSM4404024 COSM4404023 |
107 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774829223 | 108 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1237034712 | 112 | L>V | No | gnomAD | |
| rs1567115427 | 114 | T>I | No | Ensembl | |
| rs756359652 | 115 | K>E | No |
ExAC gnomAD |
|
| rs1434046274 | 115 | K>T | No |
TOPMed gnomAD |
|
| rs1224582974 | 116 | G>E | No | gnomAD | |
|
COSM4866556 COSM1588077 COSM964585 |
117 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs979704493 | 119 | I>M | No | gnomAD | |
| rs2082219195 | 120 | R>* | No | TOPMed | |
| rs2082219112 | 120 | R>Q | No |
TOPMed gnomAD |
|
| rs2082219012 | 122 | G>E | No | TOPMed | |
| rs1327703366 | 123 | L>H | No | gnomAD | |
| rs2082218393 | 126 | G>D | No | Ensembl | |
| rs766141000 | 127 | S>C | No |
ExAC gnomAD |
|
| rs2082203890 | 127 | S>N | No | Ensembl | |
| rs61731567 | 127 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1186427079 | 128 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs992450330 COSM3503687 COSM3503686 COSM3503688 |
128 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1555440932 | 129 | T>I | No | Ensembl | |
| rs371750431 | 130 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1596749572 | 132 | V>A | No | TOPMed | |
| rs1596749572 | 132 | V>G | No | TOPMed | |
| rs576481593 | 133 | E>Q | No |
1000Genomes ExAC gnomAD |
|
| rs1596749517 | 134 | L>R | No | Ensembl | |
| rs1444194803 | 134 | L>V | No | gnomAD | |
| rs1555440915 | 136 | K>E | No | Ensembl | |
| rs1337721700 | 136 | K>R | No | gnomAD | |
| rs770161962 | 137 | G>* | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2082202218 |
137 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs770161962 | 137 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1427307757 | 138 | A>P | No | Ensembl | |
| rs781480254 | 139 | T>A | No |
ExAC gnomAD |
|
| rs2082201849 | 140 | L>P | No | gnomAD | |
| rs961227034 | 141 | K>R | No | Ensembl | |
| rs2082201328 | 142 | I>V | No | TOPMed | |
| rs771205682 | 143 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs771205682 | 143 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1157187545 | 144 | L>M | No |
TOPMed gnomAD |
|
| rs771478196 | 144 | L>P | No |
ExAC gnomAD |
|
| rs771478196 | 144 | L>Q | No |
ExAC gnomAD |
|
| rs1326227652 | 145 | D>H | No |
TOPMed gnomAD |
|
| rs1555440883 | 146 | N>S | No | Ensembl | |
| rs754812616 | 147 | A>D | No |
ExAC gnomAD |
|
| rs146173648 | 147 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs146173648 | 147 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs754812616 | 147 | A>V | No |
ExAC gnomAD |
|
| rs766272643 | 148 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1213832363 | 148 | Y>N | No | gnomAD | |
| rs2082199553 | 149 | M>T | No | gnomAD | |
| rs112954819 | 149 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs750078646 | 151 | K>* | No |
ExAC gnomAD |
|
| rs750078646 | 151 | K>E | No |
ExAC gnomAD |
|
| rs1567114189 | 151 | K>M | No | Ensembl | |
| rs368549979 | 152 | C>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs773670199 | 153 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1596748994 | 154 | E>G | No | Ensembl | |
| rs1327991859 | 154 | E>K | No |
TOPMed gnomAD |
|
| rs61753428 | 155 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1283223429 | 155 | N>Y | No | TOPMed | |
| rs777051589 | 156 | I>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764150598 | 158 | W>G | No | Ensembl | |
| rs764150598 | 158 | W>R | No | Ensembl | |
| rs747321716 | 159 | L>P | No |
ExAC gnomAD |
|
| rs1381354743 | 160 | D>G | No | gnomAD | |
| rs755143954 | 161 | Y>C | No |
TOPMed gnomAD |
|
| rs777998040 | 162 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1198787226 | 162 | K>R | No | TOPMed | |
| rs2082197465 | 163 | N>D | No | TOPMed | |
| rs1452167813 | 163 | N>S | No | gnomAD | |
| rs2082197287 | 164 | I>F | No | TOPMed | |
| rs747748049 | 165 | C>Y | No | Ensembl | |
| rs1191233491 | 168 | V>A | No | gnomAD | |
| rs772116077 | 168 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs2082196432 | 170 | V>A | No | TOPMed | |
| rs1039610407 | 172 | S>N | No |
TOPMed gnomAD |
|
| rs2082196146 | 174 | I>V | No | Ensembl | |
| rs1217900498 | 175 | Y>C | No | gnomAD | |
| rs755008514 | 176 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs755008514 | 176 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2082195777 | 177 | D>A | No |
TOPMed gnomAD |
|
| rs2082195777 | 177 | D>G | No |
TOPMed gnomAD |
|
| rs2082195674 | 178 | D>V | No | TOPMed | |
| rs750307518 | 181 | I>T | No | Ensembl | |
| rs1345988813 | 182 | S>C | No |
TOPMed gnomAD |
|
| rs957923042 | 183 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
COSM1374396 COSM1374395 COSM4783774 |
185 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs11558351 | 186 | K>N | No | gnomAD | |
| rs780045406 | 187 | Q>H | No |
ExAC gnomAD |
|
| rs2082194698 | 187 | Q>L | No | TOPMed | |
| rs2082194515 | 189 | G>S | No | Ensembl | |
| rs200525707 | 191 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1370688467 | 194 | V>G | No | gnomAD | |
| rs1391247021 | 194 | V>L | No |
TOPMed gnomAD |
|
| rs1391247021 | 194 | V>M | No |
TOPMed gnomAD |
|
| rs767741108 | 195 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1596743873 | 196 | E>D | No | Ensembl | |
| TCGA novel | 196 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs11558354 | 200 | G>C | No |
ExAC gnomAD |
|
| rs1162627214 | 200 | G>D | No | gnomAD | |
| rs11558354 | 200 | G>S | No |
ExAC gnomAD |
|
| rs141732747 | 202 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs141732747 | 202 | S>Y | No |
ESP ExAC TOPMed gnomAD |
|
|
VAR_033067 rs17853396 |
204 | G>V | No |
UniProt Ensembl dbSNP |
|
| rs2140657667 | 206 | K>N | No | Ensembl | |
| rs2082156670 | 206 | K>Q | No |
TOPMed gnomAD |
|
| rs1158061359 | 206 | K>R | No |
TOPMed gnomAD |
|
| rs1567112172 | 208 | G>A | No | Ensembl | |
| rs1454103828 | 211 | L>V | No | TOPMed | |
| rs749384756 | 212 | P>R | No |
ExAC gnomAD |
|
| rs1162412763 | 212 | P>S | No | Ensembl | |
| rs182730190 | 214 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1387413664 | 217 | D>E | No |
TOPMed gnomAD |
|
| rs1555440356 | 218 | L>F | No | Ensembl | |
| rs552662710 | 219 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs922961306 | 220 | A>S | No |
TOPMed gnomAD |
|
| rs143294717 | 222 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1315530467 | 226 | I>M | No | gnomAD | |
| rs200822996 | 226 | I>V | No | 1000Genomes | |
| TCGA novel | 227 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746775723 | 227 | Q>K | No |
ExAC gnomAD |
|
| rs777291292 | 227 | Q>R | No |
ExAC gnomAD |
|
| rs149108298 | 234 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs149108298 | 234 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs11558352 | 235 | Q>* | No | TOPMed | |
| rs149152236 | 235 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs149152236 | 235 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs548240358 | 236 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1268934903 | 237 | V>I | No | TOPMed | |
| rs1006051463 | 238 | D>G | No | TOPMed | |
| rs768019274 | 239 | M>L | No |
ExAC gnomAD |
|
| rs762116180 | 239 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs762116180 | 239 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs768019274 | 239 | M>V | No |
ExAC gnomAD |
|
| rs1555440292 | 242 | A>T | No | Ensembl | |
|
rs751885485 COSM1287179 COSM1287178 |
242 | A>V | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2082152011 | 246 | R>C | No |
TOPMed gnomAD |
|
| rs763255904 | 246 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs369499375 | 247 | K>E | No |
ESP ExAC |
|
| rs2082151569 | 247 | K>R | No | TOPMed | |
| rs1567111705 | 248 | A>T | No | Ensembl | |
| rs1596742749 | 249 | S>A | No | Ensembl | |
| rs1205093025 | 249 | S>C | No | gnomAD | |
| rs1205093025 | 249 | S>F | No | gnomAD | |
| rs1485061490 | 250 | D>Y | No | gnomAD | |
| rs1359512380 | 251 | V>I | No | gnomAD | |
| rs1366482200 | 252 | H>L | No | TOPMed | |
| rs776459545 | 252 | H>N | No |
ExAC gnomAD |
|
| rs1596742614 | 253 | E>A | No | Ensembl | |
| rs1596742602 | 253 | E>D | No | Ensembl | |
| rs770830827 | 254 | V>L | No |
ExAC gnomAD |
|
| rs746789378 | 256 | K>N | No |
ExAC gnomAD |
|
| rs777240665 | 257 | V>A | No | Ensembl | |
| TCGA novel | 259 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1315530657 | 260 | E>K | No |
TOPMed gnomAD |
|
| rs1315530657 | 260 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1189191347 | 262 | G>E | No | TOPMed | |
| rs1415751822 | 262 | G>R | No |
TOPMed gnomAD |
|
| rs2082148951 | 263 | K>M | No | Ensembl | |
| rs1596742335 | 264 | N>H | No | Ensembl | |
| rs888703563 | 264 | N>S | No | Ensembl | |
|
COSM4873547 COSM1588078 COSM964584 |
266 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs145060432 | 266 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1294683706 | 267 | I>F | No | gnomAD | |
| rs376321558 | 267 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1294683706 | 267 | I>V | No | gnomAD | |
| TCGA novel | 269 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2082148139 | 269 | S>N | No | gnomAD | |
| rs1298575411 | 272 | E>K | No |
TOPMed gnomAD |
|
| rs754504936 | 273 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs1596742152 | 274 | H>R | No | TOPMed | |
|
COSM5849704 COSM5849706 COSM5849705 |
277 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs147032160 | 278 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs147032160 | 278 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs751929272 | 278 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs753928665 | 281 | D>E | No |
ExAC gnomAD |
|
| rs1596737920 | 281 | D>G | No | Ensembl | |
| rs766448844 | 283 | I>N | No |
ExAC gnomAD |
|
| rs1555439887 | 285 | E>G | No | Ensembl | |
| rs1461364241 | 287 | S>G | No |
TOPMed gnomAD |
|
|
COSM273117 rs2082109724 |
287 | S>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs1461364241 | 287 | S>R | No |
TOPMed gnomAD |
|
| rs776151468 | 288 | D>Y | No | Ensembl | |
| rs747180143 | 290 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1473358020 | 291 | M>L | No | gnomAD | |
| rs761600253 | 293 | A>S | No |
ExAC gnomAD |
|
| rs1555439861 | 294 | R>H | No | Ensembl | |
| rs2140643304 | 297 | L>I | No | Ensembl | |
| rs748967246 | 301 | I>V | No |
ExAC gnomAD |
|
| rs774905909 | 302 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2082107873 | 302 | P>L | No | TOPMed | |
| rs774905909 | 302 | P>S | No |
ExAC TOPMed gnomAD |
|
|
COSM6077803 COSM6077801 COSM6077802 |
304 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772754970 | 305 | K>E | No | Ensembl | |
| rs1596737465 | 306 | V>G | No | Ensembl | |
| rs984416866 | 310 | Q>* | No |
TOPMed gnomAD |
|
| rs11558370 | 310 | Q>P | No | Ensembl | |
| rs766435728 | 313 | M>T | No | Ensembl | |
| rs1567109528 | 313 | M>V | No | Ensembl | |
| rs745324727 | 316 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs147956260 COSM5745257 COSM5745258 COSM5745259 |
316 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1478335 COSM1478334 COSM4813844 |
317 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149836418 | 318 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs912627152 | 319 | R>* | No |
TOPMed gnomAD |
|
| rs2082106192 | 319 | R>Q | No |
TOPMed gnomAD |
|
| rs758564544 | 321 | G>E | No | Ensembl | |
| rs1795681289 | 321 | G>R | No | TOPMed | |
| rs1379467988 | 322 | K>N | No | gnomAD | |
| rs1477235322 | 323 | P>S | No | Ensembl | |
| rs748578042 | 324 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs758913245 | 324 | V>I | No |
ExAC gnomAD |
|
| rs773101506 | 327 | A>T | No | Ensembl | |
| rs2082105170 | 328 | T>A | No | gnomAD | |
| rs1555439743 | 333 | S>G | No | Ensembl | |
| rs1188957150 | 334 | M>I | No | TOPMed | |
| rs759567784 | 336 | K>R | No | Ensembl | |
| rs761579675 | 337 | K>N | No | Ensembl | |
| rs1191322184 | 338 | P>A | No |
TOPMed gnomAD |
|
| rs1191322184 | 338 | P>T | No |
TOPMed gnomAD |
|
| rs1475040192 | 339 | R>C | No |
TOPMed gnomAD |
|
| rs2959910 | 339 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2959910 | 339 | R>P | No |
ExAC gnomAD |
|
| rs2082094609 | 340 | P>A | No | Ensembl | |
| rs769086093 | 340 | P>H | No |
ExAC gnomAD |
|
| rs749574324 | 341 | T>I | No |
ExAC gnomAD |
|
| rs749574324 | 341 | T>N | No |
ExAC gnomAD |
|
| rs749700037 | 341 | T>P | No | gnomAD | |
| rs749700037 | 341 | T>S | No | gnomAD | |
| rs1012537263 | 342 | R>Q | No | TOPMed | |
| rs2082093691 | 342 | R>W | No | TOPMed | |
| rs1555439693 | 345 | G>A | No | Ensembl | |
| rs1555439693 | 345 | G>D | No | Ensembl | |
| rs1472404925 | 345 | G>S | No | TOPMed | |
| rs780327255 | 346 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1555439679 | 349 | A>V | No | Ensembl | |
| rs1219959521 | 350 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| TCGA novel | 354 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1301401 COSM4811807 COSM1301400 |
354 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082091846 | 356 | A>G | No |
TOPMed gnomAD |
|
| rs757228242 | 357 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs757228242 | 357 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs751479501 | 359 | I>V | No |
ExAC gnomAD |
|
| rs1421331541 | 361 | L>Q | No | gnomAD | |
| rs1555439646 | 364 | E>V | No | Ensembl | |
| rs1279374509 | 368 | G>E | No | TOPMed | |
|
COSM3988111 COSM3988109 COSM3988110 |
368 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764993730 | 370 | Y>C | No |
ExAC gnomAD |
|
| rs887436226 | 370 | Y>H | No |
TOPMed gnomAD |
|
| rs748096850 | 373 | E>* | No | Ensembl | |
| rs2082089644 | 373 | E>G | No | gnomAD | |
| rs1555439611 | 374 | A>S | No | Ensembl | |
|
COSM1588080 COSM964583 |
375 | V>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776317903 | 375 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs770540884 | 376 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs760211346 | 376 | R>H | No |
ExAC TOPMed gnomAD |
|
|
COSM701317 COSM4861739 COSM1147602 rs760211346 |
376 | R>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1555439600 | 377 | M>I | No | Ensembl | |
| rs1567108356 | 377 | M>L | No | TOPMed | |
| rs993807192 | 377 | M>T | No | Ensembl | |
| rs1567108356 | 377 | M>V | No | TOPMed | |
| rs151078084 | 378 | Q>E | No |
ESP TOPMed |
|
| rs2082088361 | 379 | H>Q | No | TOPMed | |
| rs1283026574 | 379 | H>Y | No | gnomAD | |
| rs1459030378 | 381 | I>T | No | gnomAD | |
| rs370289690 | 383 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs978437292 | 383 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1353995991 | 385 | A>T | No | gnomAD | |
| rs1282600102 | 387 | A>G | No | gnomAD | |
| rs1247284497 | 388 | A>V | No | gnomAD | |
| rs774550933 | 389 | I>V | No |
ExAC gnomAD |
|
| rs1596720469 | 391 | H>P | No | Ensembl | |
| rs2081971567 | 391 | H>Q | No | TOPMed | |
| rs372106641 | 393 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs372106641 | 393 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1596720393 | 397 | E>D | No | Ensembl | |
| rs374413992 | 399 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs200864323 | 399 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2140599787 | 400 | R>C | No | Ensembl | |
| rs369997463 | 400 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs369997463 | 400 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1389054325 | 401 | L>R | No | gnomAD | |
| rs181813553 | 402 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1379371951 | 403 | P>S | No | gnomAD | |
| rs1030588233 | 404 | I>V | No | TOPMed | |
| rs1176218893 | 406 | S>N | No | gnomAD | |
| rs1596720182 | 407 | D>A | No | Ensembl | |
|
COSM6015854 COSM6015853 |
407 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs148035865 | 408 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs1449605419 | 409 | T>I | No | gnomAD | |
| rs1596720132 | 412 | T>A | No | Ensembl | |
| rs1596720132 | 412 | T>P | No | Ensembl | |
| rs377014720 | 413 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs377014720 | 413 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1567102215 | 414 | V>L | No | TOPMed | |
|
COSM3387021 rs1567102215 COSM3387022 |
414 | V>M | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| TCGA novel | 417 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1237970148 | 417 | V>M | No | gnomAD | |
| rs1379254049 | 418 | E>G | No | gnomAD | |
| TCGA novel | 419 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373503390 | 420 | S>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1436364737 | 420 | S>F | No | gnomAD | |
| rs2081968857 | 421 | F>S | No | Ensembl | |
| rs1329900660 | 425 | S>G | No |
TOPMed gnomAD |
|
| rs2081968596 | 425 | S>I | No | TOPMed | |
| rs1325937257 | 427 | A>T | No | gnomAD | |
|
COSM4056650 COSM4056651 |
427 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750752269 | 430 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1156461571 | 432 | T>A | No | gnomAD | |
| rs767683783 | 434 | S>A | No |
ExAC gnomAD |
|
| rs767683783 | 434 | S>T | No |
ExAC gnomAD |
|
| rs765134093 | 436 | R>S | No |
ExAC gnomAD |
|
| rs139159354 | 436 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs59430203 | 437 | S>Y | No | Ensembl | |
| rs1346959696 | 438 | A>T | No | TOPMed | |
| rs1555437717 | 440 | Q>* | No | Ensembl | |
| rs2081921748 | 440 | Q>H | No | TOPMed | |
| rs2081921884 | 440 | Q>P | No | TOPMed | |
| rs776353107 | 442 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2081921458 | 443 | R>K | No | gnomAD | |
| rs770777456 | 445 | R>C | No |
ExAC gnomAD |
|
| rs746743807 | 445 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1465010876 | 447 | R>C | No |
TOPMed gnomAD |
|
| rs1398108913 | 447 | R>H | No | gnomAD | |
| rs1398108913 | 447 | R>L | No | gnomAD | |
| rs2081920676 | 449 | P>A | No |
TOPMed gnomAD |
|
| rs1420411763 | 451 | I>V | No | gnomAD | |
| rs2140582501 | 452 | A>P | No | Ensembl | |
| rs1555437677 | 453 | V>A | No | Ensembl | |
| rs1219568158 | 453 | V>M | No | gnomAD | |
| TCGA novel | 454 | T>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772885059 COSM1152880 COSM4872284 COSM964582 |
455 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2081919921 | 455 | R>W | No | TOPMed | |
| rs2081919711 | 458 | Q>E | No | TOPMed | |
| rs762576055 | 458 | Q>P | No | Ensembl | |
| rs771667562 | 461 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs141505399 | 461 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs141505399 | 461 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3887417 COSM3887418 COSM3887416 |
462 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1344683675 | 462 | Q>E | No |
TOPMed gnomAD |
|
| rs542685905 | 463 | A>S | No |
1000Genomes ExAC gnomAD |
|
|
rs756647275 COSM4811968 COSM1301399 COSM1301398 |
465 | L>M | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4056648 rs746373368 COSM4056649 COSM4056647 |
467 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1402023281 | 467 | R>H | No | gnomAD | |
| rs1596714266 | 469 | I>V | No | Ensembl | |
| TCGA novel | 473 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs993782606 | 474 | C>F | No |
TOPMed gnomAD |
|
| rs750670127 | 474 | C>R | No | Ensembl | |
| rs2081918194 | 474 | C>W | No | TOPMed | |
| rs781492852 | 475 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1315135987 | 475 | K>T | No | gnomAD | |
| rs1555437619 | 476 | D>N | No | Ensembl | |
| rs1567099391 | 477 | P>Q | No | Ensembl | |
| rs750785671 | 479 | Q>E | No | Ensembl | |
| rs757700901 | 481 | A>T | No |
ExAC gnomAD |
|
| rs1555437603 | 482 | W>R | No | Ensembl | |
| rs2081916979 | 485 | D>N | No | Ensembl | |
| rs765351205 | 486 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs752757216 | 486 | V>M | No |
ExAC gnomAD |
|
| rs759479994 | 488 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1184267969 | 488 | L>P | No |
TOPMed gnomAD |
|
| rs200103010 | 489 | R>Q | No | Ensembl | |
| rs776639365 | 489 | R>W | No |
ExAC gnomAD |
|
| rs11558358 | 490 | V>L | No |
TOPMed gnomAD |
|
| rs11558358 | 490 | V>M | No |
TOPMed gnomAD |
|
| rs1596713897 | 491 | N>I | No | Ensembl | |
| rs185164430 | 491 | N>K | No |
1000Genomes ExAC gnomAD |
|
|
COSM4821729 COSM4821727 COSM4821728 |
492 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760488232 | 493 | A>T | No |
ExAC gnomAD |
|
| rs1596713843 | 494 | M>V | No | Ensembl | |
| rs2081915333 | 495 | N>D | No | Ensembl | |
| rs772970021 | 495 | N>I | No |
ExAC gnomAD |
|
| rs746794406 | 498 | K>M | No | gnomAD | |
| rs746794406 | 498 | K>R | No | gnomAD | |
| rs2081891232 | 500 | R>* | No | Ensembl | |
|
COSM3816686 rs762544621 COSM3816687 |
500 | R>Q | breast [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1555437413 | 501 | G>C | No | Ensembl | |
| rs775116934 | 501 | G>D | No |
ExAC gnomAD |
|
| rs1555437413 | 501 | G>S | No | Ensembl | |
| rs1399601984 | 502 | F>V | No | gnomAD | |
| rs778335501 | 504 | K>N | No |
ExAC gnomAD |
|
|
COSM3816683 rs747511396 COSM3816684 COSM3816685 |
504 | K>R | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1567097982 | 506 | G>E | No | Ensembl | |
| TCGA novel | 507 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2081890122 | 507 | D>G | No | gnomAD | |
| rs1484637605 | 508 | V>G | No | gnomAD | |
| rs772575257 | 510 | I>L | No |
ExAC gnomAD |
|
| TCGA novel | 513 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM964581 COSM1588081 COSM4870005 rs753992080 |
516 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs780105754 | 516 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs761407738 | 517 | P>S | No | Ensembl | |
| rs2081888844 | 518 | G>D | No | TOPMed | |
| rs776740387 | 518 | G>S | No | Ensembl | |
|
TCGA novel rs1555437364 |
519 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1205141112 | 519 | S>P | No | gnomAD | |
| rs1555437364 | 519 | S>Y | No | Ensembl | |
| rs2081888219 | 520 | G>D | No | TOPMed | |
| rs776154274 | 520 | G>S | No | Ensembl | |
| rs1277330478 | 525 | M>K | No | gnomAD | |
| rs767375723 | 525 | M>V | No |
ExAC gnomAD |
|
| rs2081887444 | 526 | R>C | No | Ensembl | |
| rs761698717 | 526 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs2081887187 | 527 | V>I | No | TOPMed | |
| rs2140573436 | 528 | V>F | No | Ensembl | |
| rs769608343 | 530 | V>A | No | gnomAD | |
| rs371099168 | 531 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 531 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763855114 | 532 | P>R | No |
ExAC gnomAD |
|
| rs762479775 | 532 | P>W | No |
1000Genomes ExAC gnomAD |
No associated diseases with P14618
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.40 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11817 | PYRUVATE KINASE |
| PANTHER Subfamily | PTHR11817:SF15 | PYRUVATE KINASE PKM |
| PANTHER Protein Class | kinase | |
| PANTHER Pathway Category |
Pyruvate metabolism Pyruvate Kinase Glycolysis Pyruvate kinase |
|
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| 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. |
| rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| histone H3T11 kinase activity | Catalysis of the reaction |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| MHC class II protein complex binding | Binding to a class II major histocompatibility complex. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| potassium ion binding | Binding to a potassium ion (K+). |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein tyrosine kinase activity | Catalysis of the reaction |
| pyruvate kinase activity | Catalysis of the reaction |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| canonical glycolysis | The glycolytic process that begins with the conversion of glucose to glucose-6-phosphate by glucokinase activity. Glycolytic processes are the chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP. |
| cellular response to insulin stimulus | Any 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 an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| glycolytic process | The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. |
| 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 cytoplasmic translation | Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. |
| positive regulation of sprouting angiogenesis | Any process that activates or increases the frequency, rate or extent of sprouting angiogenesis. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| programmed cell death | A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P52489 | PYK2 | Pyruvate kinase 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| P00549 | CDC19 | Pyruvate kinase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| P11979 | PKM | Pyruvate kinase PKM | Felis catus (Cat) (Felis silvestris catus) | SS |
| P00548 | PKM | Pyruvate kinase PKM | Gallus gallus (Chicken) | SS |
| Q29536 | PKLR | Pyruvate kinase PKLR | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| O62619 | PyK | Pyruvate kinase | Drosophila melanogaster (Fruit fly) | SS |
| P30613 | PKLR | Pyruvate kinase PKLR | Homo sapiens (Human) | SS |
| P53657 | Pklr | Pyruvate kinase PKLR | Mus musculus (Mouse) | SS |
| P52480 | Pkm | Pyruvate kinase PKM | Mus musculus (Mouse) | SS |
| P11980 | Pkm | Pyruvate kinase PKM | Rattus norvegicus (Rat) | SS |
| P12928 | Pklr | Pyruvate kinase PKLR | Rattus norvegicus (Rat) | SS |
| Q9LIK0 | PKP1 | Plastidial pyruvate kinase 1, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKPHSEAGT | AFIQTQQLHA | AMADTFLEHM | CRLDIDSPPI | TARNTGIICT | IGPASRSVET |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKEMIKSGMN | VARLNFSHGT | HEYHAETIKN | VRTATESFAS | DPILYRPVAV | ALDTKGPEIR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TGLIKGSGTA | EVELKKGATL | KITLDNAYME | KCDENILWLD | YKNICKVVEV | GSKIYVDDGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISLQVKQKGA | DFLVTEVENG | GSLGSKKGVN | LPGAAVDLPA | VSEKDIQDLK | FGVEQDVDMV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FASFIRKASD | VHEVRKVLGE | KGKNIKIISK | IENHEGVRRF | DEILEASDGI | MVARGDLGIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IPAEKVFLAQ | KMMIGRCNRA | GKPVICATQM | LESMIKKPRP | TRAEGSDVAN | AVLDGADCIM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSGETAKGDY | PLEAVRMQHL | IAREAEAAIY | HLQLFEELRR | LAPITSDPTE | ATAVGAVEAS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKCCSGAIIV | LTKSGRSAHQ | VARYRPRAPI | IAVTRNPQTA | RQAHLYRGIF | PVLCKDPVQE |
| 490 | 500 | 510 | 520 | 530 | |
| AWAEDVDLRV | NFAMNVGKAR | GFFKKGDVVI | VLTGWRPGSG | FTNTMRVVPV | P |