Q6ZN44
SS
Gene name |
UNC5A (KIAA1976, UNC5H1) |
Protein name |
Netrin receptor UNC5A |
Names |
Protein unc-5 homolog 1 , Protein unc-5 homolog A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90249 |
EC number |
|
Protein Class |
|
Descriptions
The UNC5 family proteins, initially discovered in C. elegans as an axonal guidance transmembrane receptor. The cytoplasmic domains of UNC5b are responsible for its netrin-mediated signaling events in axonal migrations, blood vessel patterning, and apoptosis. The domain organization pattern of the cytoplasmic portion of UNC5 (i.e., ZU5-UPA-DD) is also found in ankyrins, a large family of scaffold proteins responsible for the assembly of specialized membrane microdomain structures that contain ion channels, cell adhesion molecules, and cytoskeletons in diverse cells. <br>The three domains (ZU5, UPA, and DD) form a structural supramoldule, thereby locking the ZU5-UPA-DD supramodule in a closed conformation and suppressing the biological activity of UNC5b. Release of the closed conformation of the ZU5-UPA-DD supramodule leads to the activation of the receptor in the promotion of apoptosis and blood vessel patterning.
Autoinhibitory domains (AIDs)
Target domain |
439-839 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
439-839 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
439-839 (ZU5-UPA-DD) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q6ZN44
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4V2A | X-ray | 240 A | A | 1-303 | PDB |
| AF-Q6ZN44-F1 | Predicted | AlphaFoldDB |
749 variants for Q6ZN44
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1581236700 | 3 | V>L | No | Ensembl | |
| rs1272106510 | 4 | R>G | No |
TOPMed gnomAD |
|
| rs1272106510 | 4 | R>W | No |
TOPMed gnomAD |
|
| rs1756430848 | 8 | W>* | No | gnomAD | |
| rs1316596072 | 14 | I>L | No |
TOPMed gnomAD |
|
| rs1316596072 | 14 | I>V | No |
TOPMed gnomAD |
|
| rs1756431322 | 15 | V>L | No | gnomAD | |
| rs961715516 | 17 | A>T | No | TOPMed | |
| rs1756431864 | 22 | G>A | No | TOPMed | |
| rs1756431764 | 22 | G>S | No | Ensembl | |
| rs1756431994 | 23 | S>L | No | TOPMed | |
| rs1292152777 | 25 | A>T | No | gnomAD | |
| rs1215927132 | 26 | Q>H | No |
TOPMed gnomAD |
|
| rs774784063 | 27 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs537369748 | 27 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1436379806 | 27 | Q>P | No | gnomAD | |
| rs144966231 | 28 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1757868199 | 28 | S>R | No | Ensembl | |
| rs764604029 | 31 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs764604029 | 31 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs754287139 | 34 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1417248538 | 34 | P>S | No | gnomAD | |
| rs1169851036 | 35 | V>M | No |
TOPMed gnomAD |
|
| rs757684191 | 37 | G>C | No | ExAC | |
| TCGA novel | 38 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2149363863 | 39 | N>I | No | Ensembl | |
| rs745566740 | 40 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs779217110 | 40 | P>T | No |
ExAC gnomAD |
|
| rs1031650235 | 41 | D>E | No |
TOPMed gnomAD |
|
| rs757994896 | 42 | L>Q | No |
ExAC gnomAD |
|
| rs1757869730 | 43 | L>V | No | Ensembl | |
| rs779566487 | 44 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1757869925 | 45 | H>L | No | Ensembl | |
| rs1757869855 | 45 | H>Y | No | gnomAD | |
| rs1172715235 | 46 | F>L | No |
TOPMed gnomAD |
|
| rs990229917 | 48 | V>M | No | gnomAD | |
| rs2149363883 | 50 | P>L | No | Ensembl | |
|
rs145793659 COSM3614381 |
51 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
| rs768495786 | 52 | D>A | No |
ExAC gnomAD |
|
| rs776693000 | 53 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs748034022 | 54 | Y>F | No |
ExAC gnomAD |
|
| rs759861692 | 55 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs148982495 | 55 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs375970937 | 56 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1581269132 | 57 | K>R | No | gnomAD | |
| rs113122449 | 58 | N>K | No |
ExAC gnomAD |
|
| rs1332010217 | 58 | N>S | No | TOPMed | |
| rs1259498304 | 59 | K>T | No |
TOPMed gnomAD |
|
| rs754407172 | 60 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs765604473 | 60 | P>L | No |
ExAC gnomAD |
|
| rs754407172 | 60 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1757871948 | 61 | V>A | No | Ensembl | |
| rs750743456 | 61 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1757872269 | 64 | V>E | No | Ensembl | |
| rs1396660884 | 64 | V>M | No |
TOPMed gnomAD |
|
| rs755629307 | 68 | V>M | No |
ExAC gnomAD |
|
| rs1372227488 | 69 | P>L | No |
TOPMed gnomAD |
|
| COSM3853882 | 69 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754588392 | 70 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs372807428 | 71 | T>M | No |
ExAC TOPMed gnomAD |
|
| COSM6170563 | 72 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1757873080 | 72 | Q>H | No | TOPMed | |
| rs1436741299 | 73 | I>N | No |
TOPMed gnomAD |
|
| COSM1567773 | 74 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1757873372 | 77 | C>Y | No | Ensembl | |
| rs1211086099 | 78 | N>S | No |
TOPMed gnomAD |
|
| rs1478869718 | 79 | G>R | No |
TOPMed gnomAD |
|
|
COSM4896715 rs770835388 |
80 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2149363951 | 82 | V>M | No | Ensembl | |
|
TCGA novel rs1757873798 |
83 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs775848241 | 83 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1282233188 | 84 | Q>H | No |
TOPMed gnomAD |
|
| rs1581269235 | 85 | V>G | No | Ensembl | |
| rs1192609149 | 85 | V>M | No | TOPMed | |
| rs768828608 | 86 | D>Y | No |
ExAC gnomAD |
|
| rs1262320844 | 88 | V>M | No |
TOPMed gnomAD |
|
| rs765661556 | 89 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs749874772 | 90 | E>G | No |
TOPMed gnomAD |
|
| rs1192774880 | 90 | E>K | No |
TOPMed gnomAD |
|
| rs375724945 | 91 | R>C | No |
ESP ExAC gnomAD |
|
| rs763369223 | 91 | R>H | No |
ExAC gnomAD |
|
| rs766652739 | 92 | S>N | No |
ExAC gnomAD |
|
| rs1383575012 | 93 | T>A | No | gnomAD | |
| COSM6170562 | 94 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs140306147 | 95 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA |
| rs752216972 | 96 | S>N | No |
ExAC gnomAD |
|
| rs940950792 | 97 | S>R | No |
TOPMed gnomAD |
|
| COSM482549 | 101 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6103337 COSM6103338 |
102 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1758019029 | 102 | M>L | No | Ensembl | |
| rs980489104 | 102 | M>T | No | Ensembl | |
| rs750371659 | 105 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1388058246 | 105 | R>H | No |
TOPMed gnomAD |
|
| rs1174131878 | 108 | V>I | No |
TOPMed gnomAD |
|
| rs1174131878 | 108 | V>L | No |
TOPMed gnomAD |
|
| rs373576664 | 109 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1432255445 | 111 | Q>P | No |
TOPMed gnomAD |
|
| rs1581273135 | 113 | V>G | No | Ensembl | |
| TCGA novel | 114 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1066093 rs377070410 |
114 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs754080042 | 118 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs754080042 | 118 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1228167410 | 118 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs267600563 | 121 | E>K | No | Ensembl | |
| rs746382338 | 123 | W>C | No | ExAC | |
| rs1448214987 | 123 | W>G | No |
TOPMed gnomAD |
|
| rs1448214987 | 123 | W>R | No |
TOPMed gnomAD |
|
|
COSM6170560 COSM6170561 |
126 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780569422 | 127 | V>M | No |
ExAC gnomAD |
|
| rs867627987 | 128 | A>T | No | Ensembl | |
| rs769124232 | 131 | S>P | No |
ExAC gnomAD |
|
| rs776211040 | 132 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1471170602 | 137 | S>R | No | gnomAD | |
| rs879073769 | 142 | I>L | No | TOPMed | |
| rs879073769 | 142 | I>V | No | TOPMed | |
| rs1396753722 | 143 | R>C | No | gnomAD | |
| rs1396753722 | 143 | R>G | No | gnomAD | |
| rs769240002 | 143 | R>H | No |
ExAC gnomAD |
|
| TCGA novel | 144 | I>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1758021862 | 144 | I>V | No | gnomAD | |
| rs772731294 | 145 | A>D | No |
ExAC gnomAD |
|
| TCGA novel | 145 | A>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772731294 | 145 | A>V | No |
ExAC gnomAD |
|
| rs1581273478 | 146 | Y>F | No | Ensembl | |
| rs767236589 | 148 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs767236589 | 148 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM3784813 rs775312984 |
148 | R>H | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs561487874 | 152 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs561487874 | 152 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1250386459 | 153 | Q>* | No | gnomAD | |
| rs369341816 | 155 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1758030620 | 157 | A>T | No | Ensembl | |
| rs766533230 | 161 | S>F | No |
ExAC gnomAD |
|
| rs1397736763 | 163 | E>G | No | gnomAD | |
| rs1163060164 | 163 | E>K | No |
TOPMed gnomAD |
|
| rs150169358 | 167 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs150169358 | 167 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1415507909 | 171 | R>C | No | gnomAD | |
|
rs748482811 COSM4625517 COSM4625518 |
171 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1322890858 | 172 | P>L | No |
TOPMed gnomAD |
|
| rs1758032023 | 173 | P>L | No | Ensembl | |
| rs1425574164 | 175 | G>D | No | Ensembl | |
| rs1251668587 | 176 | I>N | No | gnomAD | |
| rs777540731 | 176 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs770470164 | 180 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1758036323 | 183 | W>R | No | gnomAD | |
| rs1758036462 | 185 | R>Q | No | gnomAD | |
| rs1581273659 | 185 | R>W | No | Ensembl | |
| rs752798654 | 186 | N>K | No |
TOPMed gnomAD |
|
|
rs142225907 COSM107042 |
187 | E>K | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs142225907 | 187 | E>Q | No |
TOPMed gnomAD |
|
| rs1187079639 | 189 | L>V | No | gnomAD | |
| rs1758037002 | 190 | V>E | No | Ensembl | |
|
COSM737633 rs1390007618 |
190 | V>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
COSM3614382 COSM3614383 |
192 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778397356 | 192 | P>R | No |
ExAC gnomAD |
|
| rs138558999 | 193 | S>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3853883 COSM3853884 |
196 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776515313 | 197 | N>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1758038052 | 200 | I>F | No | Ensembl | |
| rs1581273714 | 201 | T>M | No | Ensembl | |
| rs774589723 | 202 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs201863783 | 202 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1274356412 | 203 | E>K | No | gnomAD | |
| rs1239180149 | 204 | H>N | No |
TOPMed gnomAD |
|
| TCGA novel | 204 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1758038756 | 208 | V>M | No |
TOPMed gnomAD |
|
|
rs1581273737 COSM171710 |
209 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs759722395 | 209 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs923539040 | 211 | A>G | No | Ensembl | |
| rs1463253348 | 211 | A>T | No | gnomAD | |
|
COSM1066094 COSM5076149 |
212 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1207760838 | 212 | R>G | No |
TOPMed gnomAD |
|
| rs767490058 | 212 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs767490058 | 212 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1193369543 | 214 | A>G | No | gnomAD | |
| rs1758039588 | 216 | T>A | No | gnomAD | |
| rs149303258 | 216 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs866948072 | 217 | A>T | No | Ensembl | |
| rs61744813 | 218 | N>K | No | gnomAD | |
| rs1581273793 | 220 | T>P | No | Ensembl | |
| rs1455810689 | 220 | T>S | No | gnomAD | |
| rs754134632 | 222 | V>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs534541412 | 225 | N>S | No |
1000Genomes gnomAD |
|
| rs750035224 | 227 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs750035224 | 227 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs757963537 | 228 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs779405939 | 229 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs746986911 | 229 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs746986911 | 229 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs779405939 | 229 | R>S | No |
ExAC TOPMed gnomAD |
|
|
COSM3614384 COSM3614385 |
230 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768440834 | 230 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781141893 | 231 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs774781843 | 233 | A>G | No |
ExAC gnomAD |
|
| rs111351493 | 233 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1315088332 | 235 | A>T | No |
TOPMed gnomAD |
|
| rs1314548716 | 236 | A>V | No | TOPMed | |
| rs1254060009 | 237 | V>I | No |
TOPMed gnomAD |
|
| rs1471682310 | 238 | I>F | No | gnomAD | |
| rs1471682310 | 238 | I>V | No | gnomAD | |
| rs1418893349 | 239 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs775384977 COSM1162458 |
240 | Y>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1054942042 | 240 | Y>C | No | TOPMed | |
| rs1360666438 | 241 | V>M | No | Ensembl | |
| rs1163821890 | 243 | G>D | No |
TOPMed gnomAD |
|
| rs1411742975 | 243 | G>S | No | gnomAD | |
| rs1758080214 | 246 | S>T | No | Ensembl | |
| rs368246518 | 247 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1403067662 | 247 | P>S | No |
TOPMed gnomAD |
|
| rs267600564 | 248 | W>* | No | Ensembl | |
| rs748976262 | 248 | W>R | No |
ExAC gnomAD |
|
| rs1581274973 | 252 | S>L | No | Ensembl | |
| rs1039635322 | 257 | D>N | No |
TOPMed gnomAD |
|
| rs1039635322 | 257 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs768768864 | 258 | C>G | No |
ExAC gnomAD |
|
| rs976757125 | 259 | T>I | No | gnomAD | |
| rs1250492247 | 262 | R>Q | No |
TOPMed gnomAD |
|
|
COSM5101369 COSM1269781 |
262 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1274699099 | 263 | S>G | No | gnomAD | |
| rs776640214 | 263 | S>N | No |
ExAC gnomAD |
|
| rs1758081398 | 264 | R>H | No | TOPMed | |
| TCGA novel | 264 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1758081641 | 268 | D>E | No | gnomAD | |
| rs991650589 | 270 | A>V | No | Ensembl | |
| rs1758081880 | 271 | P>L | No | TOPMed | |
| rs770216699 | 272 | R>C | No |
ExAC gnomAD |
|
| rs147243158 | 272 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs147243158 | 272 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1371743064 | 273 | N>H | No | gnomAD | |
|
COSM6103335 COSM6103336 |
274 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5541375 COSM5541376 rs773919818 |
274 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs981585774 | 275 | G>A | No | Ensembl | |
| COSM1436184 | 276 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759241998 | 276 | E>K | No |
ExAC gnomAD |
|
| rs1396817819 | 276 | E>V | No | gnomAD | |
| rs1758082751 | 277 | E>D | No | TOPMed | |
| rs1581275040 | 278 | C>G | No | Ensembl | |
| rs1338417202 | 280 | G>C | No | gnomAD | |
| rs140722981 | 281 | T>I | No |
ESP TOPMed gnomAD |
|
| rs1295389720 | 282 | D>E | No | TOPMed | |
| rs142434147 | 285 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1758083329 | 286 | R>C | No |
TOPMed gnomAD |
|
| rs752216836 | 286 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs752216836 | 286 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1433796303 | 287 | N>S | No |
TOPMed gnomAD |
|
| rs1433796303 | 287 | N>T | No |
TOPMed gnomAD |
|
| COSM293799 | 289 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1561666479 | 289 | T>I | No | Ensembl | |
|
rs1758083899 RCV001812546 |
290 | S>T | No |
ClinVar Ensembl dbSNP |
|
| rs757041992 | 292 | L>P | No |
ExAC gnomAD |
|
| rs1253645798 | 295 | H>P | No | gnomAD | |
| rs761760193 | 297 | A>T | No |
ExAC gnomAD |
|
| rs936758915 | 299 | G>S | No | Ensembl | |
| rs1432636539 | 299 | G>V | No |
TOPMed gnomAD |
|
| rs1288173485 | 301 | E>G | No | gnomAD | |
| rs771595686 | 303 | V>M | No |
ExAC TOPMed gnomAD |
|
| COSM737632 | 305 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3994199 COSM3994198 |
305 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1758194690 | 306 | Y>C | No | TOPMed | |
| rs1211581984 | 308 | G>V | No | gnomAD | |
| rs983197232 | 309 | L>R | No |
TOPMed gnomAD |
|
| rs2149369127 | 309 | L>V | No | Ensembl | |
| rs150911396 | 311 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs150911396 | 311 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs185132706 | 312 | V>A | No | 1000Genomes | |
| rs1044341173 | 312 | V>M | No |
TOPMed gnomAD |
|
| rs752913528 | 313 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs777887433 | 314 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs777887433 | 314 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs749786558 | 315 | C>F | No |
ExAC gnomAD |
|
| rs749786558 | 315 | C>Y | No |
ExAC gnomAD |
|
| rs1183082608 | 321 | L>F | No | gnomAD | |
| rs779427791 | 323 | L>F | No |
ExAC gnomAD |
|
| rs772557177 | 326 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs772557177 | 326 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1036680726 | 329 | R>Q | No |
TOPMed gnomAD |
|
| rs150032228 | 329 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs200879752 | 330 | K>R | No |
1000Genomes ExAC gnomAD |
|
| rs2149369186 | 331 | K>M | No | Ensembl | |
| rs1409941263 | 331 | K>N | No | gnomAD | |
| rs1344255387 | 331 | K>Q | No | gnomAD | |
| rs1009277890 | 332 | E>A | No |
TOPMed gnomAD |
|
| rs1009277890 | 332 | E>G | No |
TOPMed gnomAD |
|
| rs1157448811 | 333 | G>R | No | TOPMed | |
|
COSM6170553 COSM6170552 |
333 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1758197971 | 334 | L>P | No | TOPMed | |
| rs896925310 | 335 | D>H | No | Ensembl | |
| rs1758198237 | 336 | S>L | No | Ensembl | |
| rs995258110 | 337 | D>H | No | Ensembl | |
| rs761660125 | 338 | V>L | No |
ExAC gnomAD |
|
| rs1758198450 | 339 | A>T | No | Ensembl | |
| rs770262371 | 340 | D>E | No | Ensembl | |
| rs1758198588 | 340 | D>N | No |
TOPMed gnomAD |
|
| rs765163054 | 341 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs765163054 | 341 | S>W | No |
ExAC gnomAD |
|
| TCGA novel | 342 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs889969670 | 343 | I>V | No |
TOPMed gnomAD |
|
| rs1006985763 | 345 | T>S | No | Ensembl | |
| rs762804310 | 347 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1176900940 | 349 | Q>H | No | gnomAD | |
| rs752966595 | 351 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs756314533 | 352 | S>G | No |
ExAC gnomAD |
|
| rs764114359 | 352 | S>T | No |
ExAC gnomAD |
|
| rs959259218 | 353 | I>M | No |
TOPMed gnomAD |
|
| rs757720298 | 353 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs757720298 | 353 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs753891354 | 353 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1368240054 | 354 | K>N | No | gnomAD | |
| rs541719589 | 354 | K>T | No |
1000Genomes ExAC |
|
| rs868375272 | 355 | P>L | No | Ensembl | |
| rs1758199822 | 355 | P>T | No | TOPMed | |
| rs1758200050 | 356 | S>R | No | TOPMed | |
| rs758879946 | 357 | K>E | No |
ExAC gnomAD |
|
| rs1202088029 | 361 | P>L | No | gnomAD | |
| TCGA novel | 362 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1758205459 | 362 | H>R | No | gnomAD | |
| rs755283364 | 363 | L>M | No |
ExAC gnomAD |
|
| rs1758205631 | 363 | L>P | No |
TOPMed gnomAD |
|
| rs747726706 | 364 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs747726706 | 364 | L>I | No |
ExAC TOPMed gnomAD |
|
|
COSM4458665 rs2149369288 COSM4458666 |
365 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs769343359 | 368 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs201464758 | 369 | D>G | No |
1000Genomes ExAC |
|
| TCGA novel | 369 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1172628708 | 372 | T>I | No | gnomAD | |
| rs1191327432 | 378 | Q>E | No |
TOPMed gnomAD |
|
| rs759436336 | 378 | Q>H | No |
ExAC gnomAD |
|
| rs529338270 | 378 | Q>R | No | Ensembl | |
| rs1175335655 | 383 | P>H | No |
TOPMed gnomAD |
|
| rs1051266025 | 383 | P>S | No | TOPMed | |
| rs1051266025 | 383 | P>T | No | TOPMed | |
| rs763284885 | 384 | R>L | No |
ExAC gnomAD |
|
| rs763284885 | 384 | R>Q | No |
ExAC gnomAD |
|
| rs771729836 | 384 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs945156371 | 385 | Q>P | No |
TOPMed gnomAD |
|
|
COSM3614386 COSM3614387 |
386 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1325180616 | 387 | G>R | No |
TOPMed gnomAD |
|
| rs762073977 | 388 | P>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 389 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750460906 | 390 | P>A | No |
ExAC gnomAD |
|
| rs1581278554 | 390 | P>R | No | Ensembl | |
| rs750460906 | 390 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs763567432 | 391 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs767049465 | 392 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs1329552639 | 394 | L>F | No | gnomAD | |
| rs1446320285 | 396 | N>S | No | gnomAD | |
| rs1758208900 | 397 | G>E | No | TOPMed | |
| rs781390488 | 398 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs1758209127 | 398 | H>Q | No |
TOPMed gnomAD |
|
| rs140286537 | 399 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1561668822 | 400 | L>F | No | Ensembl | |
| rs201528192 | 401 | S>R | No |
ExAC gnomAD |
|
| rs1758209622 | 403 | L>P | No | gnomAD | |
| COSM5188936 | 403 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777274299 | 404 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs111558106 | 405 | G>C | No | Ensembl | |
| rs748742658 | 405 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs748742658 | 405 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs369754511 | 406 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs745767930 | 406 | G>V | No |
ExAC gnomAD |
|
| rs529556811 | 407 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs895075991 COSM120065 |
407 | R>H | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1230502826 | 411 | H>Q | No |
TOPMed gnomAD |
|
| rs1277548018 | 412 | H>R | No |
TOPMed gnomAD |
|
| rs1349756861 | 413 | S>R | No | gnomAD | |
| rs889510004 | 414 | S>C | No |
TOPMed gnomAD |
|
| rs889510004 | 414 | S>F | No |
TOPMed gnomAD |
|
| rs770083330 | 416 | T>A | No |
ExAC gnomAD |
|
| rs369908144 | 416 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs369908144 | 416 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs770083330 | 416 | T>P | No |
ExAC gnomAD |
|
| rs1758211234 | 418 | E>D | No | TOPMed | |
|
COSM4846653 COSM4846654 |
418 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3614391 COSM3614390 |
420 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3614388 rs763189496 COSM3614389 |
420 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1179294786 | 421 | E>K | No | gnomAD | |
| rs759911445 | 423 | V>A | No |
ExAC gnomAD |
|
| rs759911445 | 423 | V>D | No |
ExAC gnomAD |
|
| rs1041183670 | 423 | V>I | No |
TOPMed gnomAD |
|
| rs76295264 | 424 | S>P | No | Ensembl | |
| rs1387655639 | 425 | R>C | No |
TOPMed gnomAD |
|
| rs146409898 | 425 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs146409898 | 425 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1758212863 | 427 | S>F | No | Ensembl | |
|
COSM6103334 COSM591594 rs150952594 COSM6103333 |
428 | T>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
COSM6103332 COSM6103331 |
429 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 431 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756807194 | 432 | F>L | No |
ExAC gnomAD |
|
| rs778234358 | 433 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs778234358 | 433 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1245276998 | 433 | R>H | No | gnomAD | |
| rs1245276998 | 433 | R>L | No | gnomAD | |
| rs745845724 | 434 | S>C | No |
ExAC gnomAD |
|
| rs868170231 | 436 | P>S | No | Ensembl | |
| rs1758213825 | 437 | R>G | No | gnomAD | |
| rs1245240161 | 437 | R>P | No | gnomAD | |
| rs958074341 | 438 | G>C | No |
TOPMed gnomAD |
|
| rs1011293429 | 439 | T>N | No | TOPMed | |
| rs1205065869 | 441 | N>S | No | TOPMed | |
| rs1758214400 | 444 | Y>C | No | gnomAD | |
| TCGA novel | 445 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1758214564 | 447 | F>L | No | Ensembl | |
| rs1581278764 | 450 | L>F | No | Ensembl | |
| rs539682264 | 451 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1028287085 | 453 | R>Q | No | gnomAD | |
|
rs1188651353 COSM3853891 COSM3853892 |
453 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1245398384 | 454 | L>Q | No | gnomAD | |
| rs1758215448 | 455 | M>I | No |
TOPMed gnomAD |
|
| rs74820447 | 455 | M>L | No | TOPMed | |
| rs551944771 | 456 | I>V | No |
1000Genomes TOPMed |
|
| rs1163569735 | 457 | P>L | No | gnomAD | |
| rs148276793 | 458 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1321083677 | 460 | G>A | No | gnomAD | |
| rs1363961574 | 461 | I>V | No |
TOPMed gnomAD |
|
| rs1294228031 | 462 | S>G | No | gnomAD | |
| rs370423295 | 462 | S>R | No |
ESP TOPMed gnomAD |
|
| rs1196701840 | 465 | I>V | No | Ensembl | |
| rs2149370444 | 466 | P>T | No | Ensembl | |
| rs764472157 | 467 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs764472157 | 467 | P>Q | No |
ExAC TOPMed gnomAD |
|
|
rs1260868164 COSM1436185 COSM5178444 |
467 | P>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs764472157 | 467 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs988507983 | 467 | P>S | No |
TOPMed gnomAD |
|
| rs377606855 | 468 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761537189 | 470 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1561670824 | 471 | P>L | No | Ensembl | |
| rs76680158 | 471 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs76680158 | 471 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs750085350 | 472 | R>* | No |
ExAC gnomAD |
|
| rs750085350 | 472 | R>G | No |
ExAC gnomAD |
|
|
COSM3776541 COSM3776540 |
472 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3614392 COSM3614393 |
473 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM737631 | 477 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1201811649 | 478 | I>L | No | gnomAD | |
| rs1330846003 | 479 | Y>F | No |
TOPMed gnomAD |
|
| rs370599097 | 480 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs370599097 | 480 | L>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs374276085 | 481 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs938593968 | 482 | L>P | No |
TOPMed gnomAD |
|
| rs781139646 | 483 | H>L | No |
ExAC gnomAD |
|
| rs752377262 | 484 | K>E | No |
ExAC gnomAD |
|
| rs755927583 | 485 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs755927583 | 485 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1056996634 | 485 | P>S | No |
TOPMed gnomAD |
|
|
rs746074380 COSM137445 |
486 | E>K | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1183179487 | 487 | D>H | No |
TOPMed gnomAD |
|
| rs780065528 | 488 | V>L | No |
ExAC TOPMed gnomAD |
|
|
COSM6170550 COSM6170551 COSM1543181 rs780065528 |
488 | V>M | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs769375615 | 491 | P>L | No | gnomAD | |
| rs760615400 | 492 | L>Q | No |
ExAC TOPMed gnomAD |
|
| rs138151702 | 494 | G>C | No |
1000Genomes ESP ExAC gnomAD |
|
| rs138151702 | 494 | G>S | No |
1000Genomes ESP ExAC gnomAD |
|
| rs926170860 | 497 | T>A | No | TOPMed | |
|
COSM3853894 COSM3853893 |
497 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757028328 | 497 | T>S | No |
ExAC gnomAD |
|
| rs1384063214 | 502 | I>V | No | gnomAD | |
| rs755099198 | 503 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs755099198 | 503 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1462491569 | 504 | S>N | No |
TOPMed gnomAD |
|
| TCGA novel | 507 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1758294230 | 508 | P>L | No | Ensembl | |
| rs1758294286 | 509 | G>S | No | TOPMed | |
|
COSM3853895 rs781282336 COSM3340640 |
510 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1275262064 | 512 | L>R | No | gnomAD | |
| rs1231361008 | 512 | L>V | No | gnomAD | |
|
COSM3853896 COSM3853897 rs143892682 |
513 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs143892682 | 513 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs771421798 | 514 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM3393462 COSM1436186 rs749730825 |
514 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs147274124 | 520 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1031021101 | 520 | M>V | No | TOPMed | |
| rs1004694375 | 521 | D>A | No | TOPMed | |
| rs1242485026 | 521 | D>E | No |
TOPMed gnomAD |
|
| rs1004694375 | 521 | D>G | No | TOPMed | |
| rs1010371411 | 522 | H>N | No | TOPMed | |
| rs771734603 | 523 | C>S | No |
ExAC TOPMed gnomAD |
|
| rs1187735233 | 524 | G>E | No | gnomAD | |
| rs1408995356 | 526 | P>L | No | gnomAD | |
| rs760538769 | 526 | P>S | No |
ExAC gnomAD |
|
| rs1407213795 | 527 | S>I | No | gnomAD | |
| rs1309043531 | 528 | P>H | No |
TOPMed gnomAD |
|
|
rs1481703054 COSM3373805 COSM3373804 |
529 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1471178136 | 530 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM3919729 COSM3919728 |
531 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1382663689 | 531 | W>R | No | gnomAD | |
| rs1432196202 | 532 | S>I | No |
TOPMed gnomAD |
|
| rs776424930 | 534 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs115634193 | 534 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs115634193 | 534 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1284206347 | 537 | K>Q | No | gnomAD | |
| rs368092339 | 539 | S>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs368092339 | 539 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs756136862 | 541 | E>D | No |
ExAC gnomAD |
|
| rs752764039 | 541 | E>G | No |
ExAC gnomAD |
|
| rs767500072 | 541 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1758296899 | 545 | E>Q | No | Ensembl | |
| TCGA novel | 546 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1419838424 | 546 | D>N | No |
TOPMed gnomAD |
|
| rs764060724 | 547 | V>A | No |
ExAC gnomAD |
|
| rs904680479 | 549 | H>Q | No | TOPMed | |
| rs967143351 | 551 | G>D | No | gnomAD | |
| rs967143351 | 551 | G>V | No | gnomAD | |
|
COSM130079 rs149355192 |
552 | E>K | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1162836625 | 554 | A>T | No | gnomAD | |
| rs200322532 | 554 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746619410 | 555 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1326599727 | 555 | P>S | No | gnomAD | |
| rs768233791 | 556 | S>F | No |
ExAC TOPMed gnomAD |
|
|
COSM6170548 COSM6170549 |
557 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1581281652 | 557 | H>P | No | Ensembl | |
| rs1244577217 | 559 | Y>H | No | gnomAD | |
| rs1251429107 | 562 | Q>* | No | gnomAD | |
| rs1341035621 | 564 | E>V | No | gnomAD | |
| rs200745248 | 565 | A>S | No |
1000Genomes TOPMed gnomAD |
|
| rs200745248 | 565 | A>T | No |
1000Genomes TOPMed gnomAD |
|
| rs540125155 | 566 | S>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs769661327 | 567 | A>T | No |
ExAC gnomAD |
|
| rs1758305848 | 567 | A>V | No | TOPMed | |
| rs1758305914 | 569 | Y>C | No |
TOPMed gnomAD |
|
| rs61736275 | 570 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs61736275 | 570 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM1436188 | 573 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775833958 | 573 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1384369135 | 574 | Q>E | No |
TOPMed gnomAD |
|
| rs760762527 | 574 | Q>H | No |
ExAC gnomAD |
|
| rs1166376742 | 576 | G>A | No | gnomAD | |
|
COSM6170547 COSM6170546 |
576 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764305277 | 577 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs753906479 | 577 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs753906479 | 577 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs764305277 | 577 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs761967527 | 579 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs750926802 | 580 | L>P | No |
ExAC gnomAD |
|
| rs984025669 | 583 | E>K | No |
TOPMed gnomAD |
|
| rs780231247 | 584 | A>D | No |
ExAC gnomAD |
|
| rs1165314932 | 584 | A>T | No |
TOPMed gnomAD |
|
| COSM1696788 | 584 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751255144 | 585 | L>V | No |
ExAC gnomAD |
|
| rs1214067260 | 586 | S>G | No | gnomAD | |
| rs148579650 | 587 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs148579650 | 587 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs61737680 | 588 | A>T | No | Ensembl | |
| rs1200443534 | 589 | A>V | No |
TOPMed gnomAD |
|
| rs146118770 | 590 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 592 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749161449 | 592 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs749161449 | 592 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs770784012 | 594 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs769054384 | 597 | L>P | No |
ExAC gnomAD |
|
|
COSM6170545 COSM6170544 |
597 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1386438160 | 599 | A>V | No | gnomAD | |
|
COSM3340646 rs922020149 |
600 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1297093059 | 600 | P>T | No | gnomAD | |
| rs1225038172 | 601 | V>A | No |
TOPMed gnomAD |
|
| rs1443221511 | 601 | V>M | No | gnomAD | |
| rs1581281888 | 602 | A>G | No | Ensembl | |
| rs1758308990 | 602 | A>T | No | Ensembl | |
| rs1285566162 | 603 | C>Y | No | gnomAD | |
| rs1052239376 | 604 | T>I | No | TOPMed | |
| rs1581281901 | 604 | T>P | No | Ensembl | |
| rs1404483705 | 605 | S>T | No |
TOPMed gnomAD |
|
| rs1758309554 | 607 | E>G | No | TOPMed | |
| rs773789565 | 607 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs551577528 | 610 | I>V | No | Ensembl | |
| rs766770088 | 611 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1203436384 | 611 | R>W | No |
TOPMed gnomAD |
|
| rs1758310129 | 612 | V>I | No | Ensembl | |
| rs1416749264 | 616 | H>Q | No | gnomAD | |
| rs751812330 | 616 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1159676770 | 617 | D>E | No | gnomAD | |
| rs1758310490 | 617 | D>G | No | TOPMed | |
| rs755358049 | 617 | D>Y | No |
ExAC gnomAD |
|
| rs767224579 | 618 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs767224579 | 618 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1581281981 | 618 | T>P | No | Ensembl | |
| rs1451589154 | 619 | H>D | No | gnomAD | |
| rs1451589154 | 619 | H>Y | No | gnomAD | |
| rs777219279 | 620 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs755671102 | 620 | D>G | No |
ExAC gnomAD |
|
| rs544912851 | 620 | D>N | No |
TOPMed gnomAD |
|
| rs1581282000 | 621 | A>S | No | TOPMed | |
|
COSM1066095 rs1581282000 |
621 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs757080594 | 622 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1254102288 | 623 | K>R | No |
TOPMed gnomAD |
|
| rs1356605371 | 626 | V>L | No |
TOPMed gnomAD |
|
| rs1356605371 | 626 | V>M | No |
TOPMed gnomAD |
|
| rs772460110 | 630 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1407435683 | 630 | K>R | No |
TOPMed gnomAD |
|
| rs1282485929 | 632 | L>M | No |
1000Genomes TOPMed gnomAD |
|
| rs1378546393 | 632 | L>P | No | gnomAD | |
| rs866562102 | 633 | G>E | No | gnomAD | |
|
COSM4337887 COSM3340648 |
634 | G>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1316348267 | 634 | G>E | No |
TOPMed gnomAD |
|
| rs753364576 | 635 | Q>* | No | gnomAD | |
| rs753364576 | 635 | Q>E | No | gnomAD | |
| rs753364576 | 635 | Q>K | No | gnomAD | |
| rs377319758 | 641 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs377319758 | 641 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1236317946 | 641 | R>W | No |
TOPMed gnomAD |
|
| rs761274221 | 642 | V>I | No |
ExAC gnomAD |
|
| rs2149370960 | 647 | D>Y | No | Ensembl | |
| COSM1066097 | 649 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1477311815 | 650 | H>R | No | gnomAD | |
| rs1170400115 | 652 | L>V | No | gnomAD | |
|
COSM737630 rs764752380 |
653 | R>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs974139376 | 653 | R>H | No | TOPMed | |
| rs764752380 | 653 | R>S | No |
ExAC gnomAD |
|
| TCGA novel | 655 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758342797 | 655 | S>Y | No |
ExAC gnomAD |
|
| rs780006834 | 657 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs751456892 | 658 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs574883228 | 660 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1218316376 | 661 | S>G | No |
TOPMed gnomAD |
|
| COSM1066098 | 662 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs201478720 | 662 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1758320808 | 670 | V>I | No | TOPMed | |
| rs1457213658 | 675 | I>N | No | TOPMed | |
| rs1758323580 | 676 | P>S | No | TOPMed | |
| rs754039909 | 678 | Y>H | No |
ExAC gnomAD |
|
| rs1470766884 | 679 | H>R | No | gnomAD | |
| rs192855305 | 684 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs534497995 | 686 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs371754063 | 686 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1758324462 | 687 | Y>C | No | Ensembl | |
| rs1322632937 | 689 | H>D | No | gnomAD | |
| rs1322632937 | 689 | H>Y | No | gnomAD | |
| rs140669548 | 696 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs747767753 | 698 | S>G | No |
ExAC gnomAD |
|
| rs1758324903 | 698 | S>N | No | TOPMed | |
| TCGA novel | 699 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769542258 | 700 | S>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1353805627 | 705 | A>V | No |
TOPMed gnomAD |
|
| rs1758325403 | 707 | K>Q | No | gnomAD | |
| rs1758325469 | 707 | K>R | No | Ensembl | |
| rs762592312 | 708 | L>V | No |
ExAC gnomAD |
|
| rs1215256463 | 710 | V>M | No | Ensembl | |
| rs1201024141 | 711 | W>G | No | gnomAD | |
| rs1236864198 | 712 | Q>E | No | gnomAD | |
| rs200744216 | 713 | V>G | No |
ExAC gnomAD |
|
|
rs1184277637 COSM134100 |
713 | V>M | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs767222318 | 714 | E>G | No |
ExAC gnomAD |
|
| TCGA novel | 716 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765514327 | 716 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs765514327 | 716 | D>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM4405881 COSM4405880 |
717 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758492026 | 717 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs758492026 | 717 | G>W | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 718 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780065460 | 722 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs964347371 | 725 | N>S | No | Ensembl | |
| rs747472138 | 726 | I>V | No |
ExAC gnomAD |
|
| rs1581282685 | 727 | T>A | No | Ensembl | |
| rs1758327428 | 727 | T>I | No | TOPMed | |
| TCGA novel | 729 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1158622068 | 729 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM3853898 COSM3853899 |
731 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1758355593 | 732 | F>C | No | gnomAD | |
|
rs1581283838 COSM3614399 COSM3614398 |
732 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
COSM3776543 COSM3776542 |
734 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1281596332 | 735 | L>V | No |
TOPMed gnomAD |
|
| rs1361908224 | 736 | L>P | No | gnomAD | |
| rs1297230941 | 739 | E>K | No | gnomAD | |
| rs759720511 | 740 | S>I | No |
ExAC gnomAD |
|
|
COSM1269782 rs79316355 |
742 | A>V | oesophagus [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs753252194 | 743 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1233176527 | 744 | V>I | No | gnomAD | |
| rs903751820 | 748 | V>A | No |
TOPMed gnomAD |
|
| rs1758356888 | 752 | A>G | No | TOPMed | |
| rs1048535496 | 756 | P>S | No |
TOPMed gnomAD |
|
| COSM737629 | 757 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 758 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778690546 | 759 | I>V | No |
ExAC gnomAD |
|
| rs372561775 | 760 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM5868211 rs1209050300 COSM5868212 |
760 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1182449687 | 761 | Q>R | No | gnomAD | |
| rs1356404568 | 762 | K>R | No | Ensembl | |
| rs779395444 | 764 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2149371506 | 766 | S>C | No | Ensembl | |
| TCGA novel | 768 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776519943 | 769 | P>S | No |
ExAC gnomAD |
|
| rs1055327777 | 770 | P>H | No | TOPMed | |
| rs1055327777 | 770 | P>R | No | TOPMed | |
| rs761665237 | 770 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1321820158 | 771 | C>G | No | TOPMed | |
| rs1321820158 | 771 | C>R | No | TOPMed | |
| rs1758358821 | 771 | C>S | No | Ensembl | |
| rs1295640104 | 772 | R>S | No |
TOPMed gnomAD |
|
| rs759610549 | 773 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs148900887 | 773 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1406221953 | 774 | G>D | No |
TOPMed gnomAD |
|
| rs1758359429 | 774 | G>S | No |
TOPMed gnomAD |
|
| rs1013412761 | 775 | A>D | No |
TOPMed gnomAD |
|
|
COSM4005983 rs1013412761 |
775 | A>V | urinary_tract [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs369918620 | 776 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs369918620 | 776 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3783895 rs754389756 COSM3783894 |
778 | R>Q | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs760813993 | 778 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1224073316 | 781 | A>V | No | gnomAD | |
| rs779084482 | 782 | Q>R | No |
ExAC gnomAD |
|
| rs1488055346 | 785 | H>D | No | gnomAD | |
| rs750125880 | 785 | H>Q | No |
ExAC gnomAD |
|
| rs1758360933 | 786 | L>P | No | Ensembl | |
| rs779737446 | 787 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs138066906 | 789 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1188361073 | 789 | H>Y | No | gnomAD | |
| rs959972788 | 798 | S>N | No | Ensembl | |
| rs555730936 | 800 | T>A | No |
1000Genomes ExAC gnomAD |
|
|
COSM3853902 COSM3853903 |
801 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1758371207 | 802 | M>I | No | TOPMed | |
| rs1758371148 | 802 | M>T | No |
TOPMed gnomAD |
|
| rs768856511 | 802 | M>V | No |
ExAC gnomAD |
|
| rs761933758 | 807 | W>* | No |
ExAC gnomAD |
|
| rs1758371440 | 808 | E>K | No | TOPMed | |
| rs1758371440 | 808 | E>Q | No | TOPMed | |
| rs1025266746 | 809 | A>P | No | Ensembl | |
| rs952347866 | 809 | A>V | No |
TOPMed gnomAD |
|
| rs139125725 | 810 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs766672859 | 810 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs139125725 | 810 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1207405910 COSM5762816 COSM1066101 |
811 | H>Y | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1236442591 | 813 | P>L | No | gnomAD | |
| rs767036369 | 815 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1758372291 | 816 | N>S | No | Ensembl | |
| rs1758372352 | 818 | S>R | No | Ensembl | |
| rs1561673313 | 823 | A>P | No | Ensembl | |
| TCGA novel | 825 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1164782294 | 825 | A>T | No | TOPMed | |
| rs1265751117 | 826 | G>R | No |
TOPMed gnomAD |
|
| rs1422753997 | 828 | G>S | No | Ensembl | |
| rs553703761 | 832 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs553703761 | 832 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1758373420 | 832 | A>V | No | TOPMed | |
| rs1758373478 | 834 | L>V | No | TOPMed | |
| rs1758373533 | 837 | V>A | No | Ensembl | |
| rs1416719247 | 837 | V>M | No |
TOPMed gnomAD |
|
| rs1358669067 | 838 | S>* | No |
TOPMed gnomAD |
|
| rs1358669067 | 838 | S>L | No |
TOPMed gnomAD |
|
| rs769052499 | 840 | A>S | No |
ExAC gnomAD |
|
|
TCGA novel rs2149371749 |
841 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1399131573 | 841 | E>K | No | gnomAD | |
| rs1312790773 | 842 | C>F | No | TOPMed | |
| rs1230604754 | 843 | C>C | No | TOPMed | |
| rs1230604754 | 843 | C>W | No | TOPMed |
No associated diseases with Q6ZN44
6 regional properties for Q6ZN44
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 148 - 405 | IPR000719 |
| domain | AGC-kinase, C-terminal | 406 - 479 | IPR000961 |
| domain | Pleckstrin homology domain | 5 - 109 | IPR001849 |
| binding_site | Protein kinase, ATP binding site | 154 - 187 | IPR017441 |
| domain | Protein kinase, C-terminal | 426 - 473 | IPR017892 |
| domain | Protein Kinase B, pleckstrin homology domain | 4 - 110 | IPR039026 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| neuron projection membrane | The portion of the plasma membrane surrounding a neuron projection. |
| neuronal cell body membrane | The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| netrin receptor activity | Combining with a netrin signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| anterior/posterior axon guidance | The process in which the migration of an axon growth cone is directed to a specific target site along the anterior-posterior body axis in response to a combination of attractive and repulsive cues. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| netrin-activated signaling pathway | The series of molecular signals initiated by the binding of a netrin protein to its receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Netrins can act as chemoattractant signals for some cells and chemorepellent signals for others. Netrins also have roles outside of cell and axon guidance. |
| neuron projection development | 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). |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7T2Z5 | UNC5C | Netrin receptor UNC5C | Gallus gallus (Chicken) | SS |
| Q8IZJ1 | UNC5B | Netrin receptor UNC5B | Homo sapiens (Human) | SS |
| Q6UXZ4 | UNC5D | Netrin receptor UNC5D | Homo sapiens (Human) | SS |
| O95185 | UNC5C | Netrin receptor UNC5C | Homo sapiens (Human) | SS |
| O08747 | Unc5c | Netrin receptor UNC5C | Mus musculus (Mouse) | SS |
| Q8K1S2 | Unc5d | Netrin receptor UNC5D | Mus musculus (Mouse) | SS |
| Q8K1S3 | Unc5b | Netrin receptor UNC5B | Mus musculus (Mouse) | SS |
| Q8K1S4 | Unc5a | Netrin receptor UNC5A | Mus musculus (Mouse) | SS |
| F1LW30 | Unc5d | Netrin receptor UNC5D | Rattus norvegicus (Rat) | SS |
| O08722 | Unc5b | Netrin receptor UNC5B | Rattus norvegicus (Rat) | EV |
| Q761X5 | Unc5c | Netrin receptor UNC5C | Rattus norvegicus (Rat) | SS |
| O08721 | Unc5a | Netrin receptor UNC5A | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVRPGLWPA | LLGIVLAAWL | RGSGAQQSAT | VANPVPGANP | DLLPHFLVEP | EDVYIVKNKP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLLVCKAVPA | TQIFFKCNGE | WVRQVDHVIE | RSTDGSSGLP | TMEVRINVSR | QQVEKVFGLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EYWCQCVAWS | SSGTTKSQKA | YIRIAYLRKN | FEQEPLAKEV | SLEQGIVLPC | RPPEGIPPAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VEWLRNEDLV | DPSLDPNVYI | TREHSLVVRQ | ARLADTANYT | CVAKNIVARR | RSASAAVIVY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDGSWSPWSK | WSACGLDCTH | WRSRECSDPA | PRNGGEECQG | TDLDTRNCTS | DLCVHTASGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EDVALYVGLI | AVAVCLVLLL | LVLILVYCRK | KEGLDSDVAD | SSILTSGFQP | VSIKPSKADN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PHLLTIQPDL | STTTTTYQGS | LCPRQDGPSP | KFQLTNGHLL | SPLGGGRHTL | HHSSPTSEAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EFVSRLSTQN | YFRSLPRGTS | NMTYGTFNFL | GGRLMIPNTG | ISLLIPPDAI | PRGKIYEIYL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLHKPEDVRL | PLAGCQTLLS | PIVSCGPPGV | LLTRPVILAM | DHCGEPSPDS | WSLRLKKQSC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EGSWEDVLHL | GEEAPSHLYY | CQLEASACYV | FTEQLGRFAL | VGEALSVAAA | KRLKLLLFAP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VACTSLEYNI | RVYCLHDTHD | ALKEVVQLEK | QLGGQLIQEP | RVLHFKDSYH | NLRLSIHDVP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SSLWKSKLLV | SYQEIPFYHI | WNGTQRYLHC | TFTLERVSPS | TSDLACKLWV | WQVEGDGQSF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SINFNITKDT | RFAELLALES | EAGVPALVGP | SAFKIPFLIR | QKIISSLDPP | CRRGADWRTL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AQKLHLDSHL | SFFASKPSPT | AMILNLWEAR | HFPNGNLSQL | AAAVAGLGQP | DAGLFTVSEA |
| EC |