P14136
PR
Gene name |
GFAP |
Protein name |
Glial fibrillary acidic protein |
Names |
GFAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2670 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for P14136
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6A9P | X-ray | 251 A | A/B/C/D/E/F/G/H | 110-213 | PDB |
| AF-P14136-F1 | Predicted | AlphaFoldDB |
490 variants for P14136
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002521111 CA8609123 RCV000996566 rs146698039 |
15 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000056852 RCV000263951 CA217146 VAR_017464 rs57474185 RCV000210687 |
47 | P>L | Alexander disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000056854 RCV000192096 rs60095124 CA217150 VAR_071517 |
63 | K>Q | Alexander disease ALXDRD; affects intermediate filaments formation yielding protein aggregates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_071518 rs797044569 RCV001288188 RCV000192097 CA347183 |
66 | R>Q | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001200224 rs797044570 RCV000192098 CA347184 |
69 | E>K | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_071519 RCV000056856 rs267607510 RCV000192099 CA217152 |
70 | R>Q | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA217151 VAR_071520 RCV000056855 RCV000192100 rs60343255 |
70 | R>W | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057518685 CA16043694 RCV000414950 |
72 | E>G | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217155 rs267607523 RCV000056858 VAR_071521 RCV000192101 |
72 | E>K | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217156 RCV000192105 VAR_071522 RCV000056859 rs61060395 |
73 | M>K | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192104 RCV000056860 VAR_071523 CA217157 rs61060395 |
73 | M>R | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA347186 RCV000192103 rs61060395 VAR_071524 |
73 | M>T | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217158 VAR_071525 RCV000192102 RCV000056861 rs267607504 |
74 | M>T | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_017465 RCV000056863 RCV000017557 CA217160 rs57120761 |
76 | L>F | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217159 RCV000192106 RCV000056862 rs57120761 VAR_071526 |
76 | L>V | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_071527 | 77 | N>K | ALXDRD [UniProt] | Yes | UniProt |
|
rs57590980 VAR_071528 RCV000056865 CA217162 RCV000192107 |
77 | N>S | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217161 RCV000017558 VAR_017466 rs58732244 RCV000056864 |
77 | N>Y | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121909720 VAR_017477 CA341388 RCV000017562 |
78 | D>E | Alexander disease ALXDRD; adult form [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192108 VAR_071529 rs797044571 CA347187 |
78 | D>N | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs869312938 RCV000210555 |
79 | R>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000017554 RCV000056868 VAR_017467 rs59793293 CA217166 |
79 | R>C | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192109 rs59793293 VAR_071530 CA217165 RCV000056867 |
79 | R>G | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_017468 CA217167 RCV000056869 RCV000192110 rs59285727 RCV000017553 |
79 | R>H | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_071531 RCV000056871 CA217169 RCV000192112 rs59285727 |
79 | R>L | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056870 VAR_071532 rs59285727 CA217168 RCV000192111 |
79 | R>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192113 CA347188 rs797044572 |
80 | F>S | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597864461 CA399848662 RCV000789012 |
81 | A>D | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000192114 VAR_071533 CA217170 RCV000056872 rs267607506 |
83 | Y>H | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs571151302 RCV002051858 RCV000498900 CA399848618 |
84 | I>M | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_071534 CA347190 RCV000192115 rs797044573 |
86 | K>E | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217173 RCV000192116 RCV000056874 rs267607501 |
86 | K>EF | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000192119 RCV000056877 CA217180 rs60449251 |
87 | V>G | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001850427 CA347191 RCV000192117 rs267607518 |
87 | V>I | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000192118 CA217178 rs267607518 RCV000056876 |
87 | V>L | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000017555 rs61622935 CA217183 RCV000056879 VAR_017469 RCV003137531 |
88 | R>C | Alexander disease Osteogenesis imperfecta type 16 ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61622935 RCV000017556 VAR_017470 CA217182 RCV000056878 |
88 | R>S | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs59661476 CA217184 RCV000056880 VAR_071535 RCV000192120 |
90 | L>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA347193 RCV000192121 rs797044574 |
93 | Q>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000056881 CA217185 VAR_071536 rs59568967 RCV000192122 |
97 | L>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056882 VAR_071537 rs267607516 CA217186 RCV000192123 |
101 | L>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002495019 RCV000963954 rs139838162 RCV000604563 CA8609066 |
105 | R>W | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs147282497 CA8609062 RCV000675417 RCV000363054 |
110 | T>S | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs797044575 RCV000192124 |
124 | R>QLR | Alexander disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000056885 rs267607509 RCV000192126 CA217191 |
128 | D>N | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253158 CA399847026 RCV000996565 rs780225821 |
163 | L>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267607507 COSM84396 CA217197 RCV000056889 RCV000192127 RCV002509197 |
205 | E>K | pancreas Alexander disease [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs267607500 RCV000056893 CA217202 RCV000192129 VAR_071541 |
207 | E>Q | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192191 rs112611995 |
207 | E>missing | Alexander disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607500 RCV000056892 CA217201 RCV000192128 VAR_071540 |
207 | E>K | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs57661783 RCV000056894 RCV000192130 CA217203 VAR_071542 |
210 | E>K | Alexander disease ALXDRD; affects intermediate filaments formation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000056895 CA217204 rs56679084 RCV000192110 RCV000192131 VAR_017478 |
223 | E>Q | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8608883 RCV000992077 rs149883728 RCV002549776 |
226 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs797044577 CA347200 RCV000192132 |
231 | L>H | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM980066 rs1220287768 CA399845768 RCV001334994 COSM1588900 |
233 | A>T | endometrium Alexander disease [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000192133 RCV000056896 CA217206 VAR_071543 rs60269890 |
235 | L>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056897 rs267607525 RCV000192134 VAR_071544 CA217207 |
236 | K>T | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217208 RCV000056898 VAR_017471 RCV000017550 rs58064122 |
239 | R>C | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192135 rs58064122 RCV000517981 CA347202 |
239 | R>G | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs59565950 RCV000056899 CA217209 VAR_017472 RCV000017551 |
239 | R>H | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_071545 rs59565950 CA217211 RCV000192137 RCV000056901 |
239 | R>L | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056900 rs59565950 VAR_071546 RCV000192136 CA217210 |
239 | R>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217212 VAR_071547 RCV000056902 rs60551555 RCV000192138 |
242 | Y>D | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61497286 RCV000056903 CA217213 VAR_017473 RCV000192139 |
244 | A>V | Alexander disease ALXDRD; unknown pathological significance; does not affect intermediate filaments formation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056904 RCV000192140 rs267607519 CA217215 |
247 | S>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217217 VAR_071548 RCV000056905 RCV000192141 rs61726470 |
253 | A>G | Alexander disease ALXDRD; affects intermediate filaments formation yielding protein aggregates [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217220 RCV000056907 rs267607505 RCV000192142 VAR_071549 |
257 | Y>C | Alexander disease ALXDRD; impairs filaments formation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM1208109 RCV000192143 rs797044578 RCV002472960 COSM1208108 CA347204 |
258 | R>C | large_intestine Alexander disease [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_017474 CA217221 rs61726468 RCV000192144 RCV000056908 |
258 | R>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000192146 CA347208 rs797044580 |
264 | L>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000192145 CA347206 rs797044579 |
264 | L>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758250219 CA8608849 RCV001374436 |
265 | T>A | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000192147 CA347209 VAR_071550 rs797044581 |
267 | A>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA347210 rs797044582 RCV000192148 |
268 | A>D | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000056910 CA217223 VAR_071551 rs121909719 RCV000017560 |
276 | R>L | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192149 RCV000056911 VAR_071552 rs58536923 CA217224 |
279 | K>E | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs797044583 CA347212 RCV000192150 |
290 | Q>E | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200034725 CA8608838 RCV001263369 |
294 | C>* | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8608836 RCV000487859 rs760672791 RCV002489186 |
298 | S>F | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755602073 RCV000662108 CA8608797 |
310 | M>I | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA347214 RCV000192151 rs763868966 |
312 | E>* | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000192152 RCV000056917 rs267607513 CA217233 VAR_071553 |
330 | R>G | Alexander disease ALXDRD; associated with Lys-332 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA399844164 RCV000625961 rs983143417 |
330 | R>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA217234 RCV000056918 RCV000192153 rs59985777 |
331 | L>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217236 RCV000056919 VAR_071554 RCV000192152 RCV000192154 rs267607514 |
332 | E>K | Alexander disease ALXDRD; associated with Gly-330 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2051758860 RCV001266691 |
336 | Q>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000192155 rs797044584 |
349 | Y>HL | Alexander disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797044585 CA347218 RCV000192156 |
351 | D>H | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs28932769 RCV000017561 CA217100 RCV000056820 VAR_071555 |
352 | L>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs267607515 RCV000056821 RCV000192157 CA217101 |
357 | L>P | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA347220 RCV000192158 rs797044586 |
358 | A>V | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217104 RCV000192161 rs267607511 VAR_071556 RCV000056823 |
359 | L>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056822 CA217103 RCV000192160 rs60825166 VAR_071557 |
359 | L>V | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056824 CA217105 rs62636501 RCV000192162 |
360 | D>V | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000017559 CA217107 RCV000056825 rs121909718 VAR_017475 |
362 | E>D | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs797044588 RCV000192163 CA347224 |
362 | E>G | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000056826 rs58645997 CA217108 RCV000192165 VAR_071558 |
364 | A>P | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA347226 RCV000192164 rs58645997 |
364 | A>T | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000056827 RCV000192166 CA217109 rs267607503 |
364 | A>V | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607502 CA217112 RCV000056829 RCV000192168 |
366 | Y>C | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000056828 rs58008462 CA217111 VAR_071559 RCV000192167 |
366 | Y>H | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217115 RCV000192170 RCV000056831 rs57815192 |
371 | E>G | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA217114 rs267607526 VAR_071560 RCV000192169 RCV000056830 |
371 | E>Q | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA217117 RCV000056832 RCV000192171 rs57815192 VAR_071561 |
371 | E>V | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA347228 RCV000192175 rs797044589 |
373 | E>A | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_071562 | 373 | E>D | ALXDRD [UniProt] | Yes | UniProt |
|
VAR_071563 rs58075601 CA217118 RCV000192173 RCV000056833 |
373 | E>K | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs58075601 RCV000056834 RCV000192174 VAR_071564 CA217119 |
373 | E>Q | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_071565 RCV000192176 CA217120 rs59628143 RCV000056835 |
374 | E>G | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_071566 | 374 | E>Q | ALXDRD [UniProt] | Yes | UniProt |
|
RCV000722139 CA399843303 rs1567773470 |
375 | N>K | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000056836 CA217121 rs267607512 VAR_071567 |
376 | R>G | ALXDRD [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000192177 RCV000056837 CA217122 rs267607512 |
376 | R>W | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000192178 rs267607517 RCV000056841 CA217128 |
383 | T>I | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs797044590 RCV000479686 RCV000192180 CA347231 |
385 | S>C | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA347230 VAR_071568 RCV000192179 rs797044590 |
385 | S>F | Alexander disease ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000056842 RCV000192181 CA217130 rs61726471 |
386 | N>I | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA217136 RCV000056846 RCV000192182 rs62635764 |
393 | S>I | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA347233 RCV000192183 rs267607508 |
398 | S>F | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000192184 RCV000056847 rs267607508 CA217138 |
398 | S>Y | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555573462 RCV001265683 |
407 | N>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597853099 RCV000989932 CA399838855 |
412 | T>I | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001267511 RCV000056848 rs121909717 RCV000017552 VAR_017476 CA217140 |
416 | R>W | Alexander disease Inborn genetic diseases ALXDRD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000192187 rs797044591 |
417 | D>missing | Alexander disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA217141 RCV000192186 RCV000056849 rs267607520 |
417 | D>A | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000192188 rs267607521 RCV000056851 CA217144 |
426 | Q>L | Alexander disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399849276 rs1211825074 |
2 | E>Q | No |
ClinGen TOPMed |
|
|
rs1250081721 CA399849267 |
3 | R>K | No |
ClinGen gnomAD |
|
|
rs776235455 CA8609139 |
3 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs770750986 CA8609138 |
4 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs142049068 CA8609136 |
5 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1383744 rs773456179 COSM1383743 CA8609135 |
5 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA399849245 rs1567779198 |
7 | T>A | No |
ClinGen Ensembl |
|
|
CA8609133 rs748191931 |
7 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399849246 rs1567779198 |
7 | T>P | No |
ClinGen Ensembl |
|
|
rs1476376917 CA399849238 |
8 | S>F | No |
ClinGen TOPMed |
|
|
CA8609130 rs769218064 |
9 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs202212750 CA291034695 |
9 | A>V | No |
ClinGen 1000Genomes |
|
|
CA8609129 rs749815672 RCV001288189 |
11 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs749815672 CA399849224 |
11 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609128 rs780481913 |
11 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399849223 rs780481913 |
11 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609127 rs375692636 |
12 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399849220 rs375692636 |
12 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373706480 CA8609126 |
12 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399849204 rs140252141 |
14 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8609124 rs146698039 |
15 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292604622 CA399849194 |
16 | S>F | No |
ClinGen TOPMed |
|
|
rs1354251613 CA399849185 |
18 | G>R | No |
ClinGen Ensembl |
|
|
CA8609119 rs371392414 |
20 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1266043362 CA399849158 |
21 | M>I | No |
ClinGen gnomAD |
|
|
rs1597865100 CA399849153 |
22 | V>G | No |
ClinGen Ensembl |
|
|
CA399849146 rs1469741542 |
23 | G>A | No |
ClinGen gnomAD |
|
|
CA399849145 rs1469741542 |
23 | G>V | No |
ClinGen gnomAD |
|
|
CA291034619 rs376999852 |
25 | L>Q | No |
ClinGen ESP gnomAD |
|
|
CA8609114 rs139837765 |
26 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8609115 rs139837765 |
26 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1231379140 CA399849134 |
26 | A>T | No |
ClinGen TOPMed |
|
|
CA8609113 rs139837765 |
26 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199848423 CA291034586 |
28 | G>R | No |
ClinGen 1000Genomes |
|
|
CA8609112 rs370903792 |
29 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201998644 CA8609111 |
29 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8609110 rs770249831 |
30 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373688797 COSM1208113 CA8609109 COSM1208112 |
30 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA399849110 rs373688797 |
30 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754484687 CA399849086 |
35 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1376759037 CA399849083 |
35 | T>I | No |
ClinGen gnomAD |
|
|
CA399849085 rs1376759037 |
35 | T>N | No |
ClinGen gnomAD |
|
|
CA8609105 rs754484687 |
35 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8609106 rs754484687 |
35 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236176019 CA8609103 |
36 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM3718525 COSM3718524 rs375709542 CA8609102 |
36 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs375709542 CA399849080 |
36 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455211354 CA399849069 COSM143689 |
38 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs564205924 CA8609100 |
40 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8609099 rs750178537 |
41 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8609098 rs767435467 |
41 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1304504344 CA399849048 |
42 | M>I | No |
ClinGen gnomAD |
|
|
CA399849050 rs761756851 |
42 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA8609097 rs761756851 |
42 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8609096 rs368169263 |
43 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144543354 CA8609095 |
44 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353517133 CA399849036 |
44 | P>L | No |
ClinGen TOPMed |
|
|
rs1347539627 CA399849028 |
46 | L>V | No |
ClinGen gnomAD |
|
|
CA291034463 rs57474185 |
47 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747417926 CA399849011 |
49 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747417926 CA8609090 |
49 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609091 rs771283454 |
49 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399849006 rs1597864720 |
50 | V>G | No |
ClinGen Ensembl |
|
|
CA8609088 rs754610136 |
50 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA399849010 rs754610136 |
50 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1475697926 CA399849003 |
51 | D>N | No |
ClinGen gnomAD |
|
|
rs1475697926 CA399849005 |
51 | D>Y | No |
ClinGen gnomAD |
|
|
CA8609087 rs748791555 |
52 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA8609086 rs779437010 |
53 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399848971 rs1281254784 |
54 | L>R | No |
ClinGen gnomAD |
|
|
rs750371041 CA8609084 |
55 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196032125 CA399848955 |
56 | G>E | No |
ClinGen TOPMed |
|
|
CA8609083 rs767627754 |
59 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs886053020 CA10649449 |
60 | A>D | No |
ClinGen Ensembl |
|
|
rs553164022 CA8609082 |
65 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA16043124 rs797044569 RCV000413147 |
66 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1567778698 CA399848839 |
66 | R>W | No |
ClinGen Ensembl |
|
|
CA399848830 rs1364674732 |
67 | A>S | No |
ClinGen gnomAD |
|
|
rs764324311 CA8609080 |
68 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA217153 RCV000056857 rs267607522 |
71 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1307573872 CA399848739 |
74 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV000056866 CA217163 rs59793293 |
79 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA291034264 rs267607506 |
83 | Y>N | No |
ClinGen gnomAD |
|
|
rs58454592 RCV000056873 CA217171 |
83 | Y>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs907564777 CA291034253 |
85 | E>K | No |
ClinGen gnomAD |
|
|
RCV000056875 CA217176 rs267607524 |
86 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267607518 CA8609075 |
87 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8609074 rs760982722 |
88 | R>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000711794 rs773482099 CA8609073 |
89 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA399848532 rs1482181699 |
92 | Q>R | No |
ClinGen gnomAD |
|
|
rs780940137 CA291034217 |
95 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs552590923 CA399848472 |
96 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768288825 CA8609072 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs552590923 CA8609071 |
96 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399848457 rs1401647655 |
98 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8609069 rs769422556 |
98 | A>V | No |
ClinGen ExAC |
|
|
rs1288271944 CA399848438 |
100 | E>Q | No |
ClinGen gnomAD |
|
|
rs751356359 RCV000675418 CA8609065 |
105 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs777432787 CA8609064 |
107 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs758585959 CA8609063 |
108 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs965980134 CA291034158 |
110 | T>A | No |
ClinGen gnomAD |
|
|
CA8609060 rs759594700 |
112 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs759594700 CA8609061 |
112 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM4130152 COSM4130151 CA8609058 rs766832216 |
113 | A>V | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs115282391 CA8609056 RCV000434385 RCV000894280 |
114 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1567778312 CA399848291 |
114 | D>V | No |
ClinGen Ensembl |
|
|
RCV000056884 CA217189 rs56746197 |
115 | V>F | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000056883 rs56746197 VAR_071538 CA217187 |
115 | V>I | does not affect intermediate filaments formation [UniProt] | No |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs886053019 CA10649448 RCV002572971 |
118 | A>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs886053019 CA399848269 |
118 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399848263 rs1165954717 |
119 | E>Q | No |
ClinGen Ensembl |
|
|
rs774973273 CA8609054 RCV001306519 |
121 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA8609053 rs769619261 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245041876 CA399848244 |
122 | E>G | No |
ClinGen gnomAD |
|
|
CA399848233 rs1185404768 |
124 | R>Q | No |
ClinGen gnomAD |
|
|
rs780877810 CA8609051 |
124 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1325024 rs777820983 CA8609048 COSM1325023 |
126 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201959936 CA8609050 |
126 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609045 rs374287482 |
130 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1375143443 CA399848169 |
131 | T>I | No |
ClinGen gnomAD |
|
|
CA399848174 rs1597864041 |
131 | T>P | No |
ClinGen Ensembl |
|
|
rs376110896 CA8609043 |
132 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766461563 CA8609042 |
133 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609039 rs147040914 |
134 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762060740 CA8609038 |
135 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs544232705 CA399848126 |
135 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs544232705 CA291034049 |
135 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8609037 rs774799414 |
136 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM131208 CA8609036 rs764939072 |
136 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA291034039 rs774799414 |
136 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609035 rs759262295 |
137 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776219998 CA399848104 |
138 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609034 rs776219998 |
138 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609033 rs770549078 |
138 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA291034015 rs922189060 |
139 | V>G | No |
ClinGen Ensembl |
|
|
CA8609032 rs529014360 |
143 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8609031 rs773003505 |
144 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000514209 rs141400812 CA8609030 |
145 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399848007 rs1298774179 |
145 | A>V | No |
ClinGen gnomAD |
|
|
rs778685295 CA8609029 |
146 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8609028 rs778685295 |
146 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8609024 rs749499843 |
149 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs755135777 CA8609025 |
149 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA399847952 rs1455198637 |
150 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA217193 rs59291670 VAR_071539 RCV001646989 RCV000056886 |
157 | D>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs534444398 CA399847062 |
159 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs534444398 CA291031714 |
159 | T>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399847069 rs1597862725 |
159 | T>P | No |
ClinGen Ensembl |
|
|
CA399847056 rs1597862709 |
160 | N>T | No |
ClinGen Ensembl |
|
|
rs866232917 CA291031708 |
162 | R>M | No |
ClinGen Ensembl |
|
|
rs749123868 CA8609003 |
162 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs780225821 CA8609002 |
163 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs78616766 CA291031678 |
164 | E>K | No |
ClinGen Ensembl |
|
|
rs770076335 CA399847001 |
166 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609001 rs770076335 |
166 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8609000 rs745894599 |
168 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399846967 rs1300031196 |
169 | L>M | No |
ClinGen gnomAD |
|
|
CA399846957 rs1456837755 |
170 | A>V | No |
ClinGen gnomAD |
|
|
rs1417828505 CA399846956 |
171 | A>T | No |
ClinGen gnomAD |
|
|
CA8608999 rs781332429 |
172 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1179230629 CA399846941 |
173 | R>K | No |
ClinGen gnomAD |
|
|
rs761291672 CA8608971 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751089464 CA8608970 |
177 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763977401 CA8608969 |
179 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs762881584 CA399846762 |
180 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762881584 CA8608968 |
180 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209012791 CA399846754 |
181 | L>Q | No |
ClinGen gnomAD |
|
|
rs1347500036 CA399846735 |
182 | A>V | No |
ClinGen gnomAD |
|
|
CA8608967 rs201656479 |
183 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201656479 CA291031460 |
183 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8608966 rs769613792 |
183 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399846720 rs769613792 |
183 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8608965 rs200072112 |
185 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200072112 CA399846704 |
185 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776879351 CA8608964 |
187 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1431877127 CA399846640 |
188 | R>K | No |
ClinGen gnomAD |
|
|
rs1328578107 CA399846601 |
190 | I>T | No |
ClinGen gnomAD |
|
|
CA8608963 rs371490189 |
192 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399846568 rs1332678738 |
192 | S>T | No |
ClinGen gnomAD |
|
|
rs1463757182 CA399846545 |
194 | E>Q | No |
ClinGen TOPMed |
|
|
rs772653114 CA399846525 |
195 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773433027 CA8608961 |
195 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773433027 CA399846532 |
195 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772653114 CA8608960 |
195 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs199715194 CA291031428 |
196 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199715194 CA8608959 |
196 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779356682 RCV000430344 CA8608958 |
197 | I>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs148887665 CA8608957 |
198 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597862023 CA399846452 |
199 | F>V | No |
ClinGen Ensembl |
|
|
CA8608956 rs749666056 |
200 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs756932270 CA8608954 |
202 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291031418 rs1032581582 |
204 | H>P | No |
ClinGen Ensembl |
|
|
CA399846329 rs267607507 |
205 | E>Q | No |
ClinGen gnomAD |
|
|
rs759844035 CA8608895 |
207 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000498040 rs1555574517 CA399846150 |
207 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs146725018 CA291030914 |
209 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771699440 CA8608893 RCV000711797 |
209 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs146725018 RCV000675414 CA8608894 |
209 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs57661783 CA8608892 |
210 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs768024054 CA8608890 |
213 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8608891 rs778694480 |
213 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399846028 rs1350847656 |
214 | Q>H | No |
ClinGen TOPMed |
|
|
rs758152116 CA8608889 |
215 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173058255 CA399846005 |
216 | A>G | No |
ClinGen gnomAD |
|
|
rs1435436960 CA399845995 |
217 | R>* | No |
ClinGen gnomAD |
|
|
rs1435436960 CA399845996 |
217 | R>G | No |
ClinGen gnomAD |
|
|
CA8608887 rs547934341 |
217 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8608888 rs547934341 |
217 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1168957361 CA399845956 |
219 | Q>L | No |
ClinGen gnomAD |
|
|
rs750174463 CA8608886 |
220 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1196350199 CA399845927 |
221 | H>R | No |
ClinGen gnomAD |
|
|
CA8608885 rs367556939 |
221 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399845909 rs1230044028 |
222 | V>L | No |
ClinGen TOPMed |
|
|
rs1597861228 RCV000992076 CA399845887 |
223 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs140889005 CA291030860 |
224 | L>P | No |
ClinGen ESP TOPMed |
|
|
rs762919368 CA8608882 |
226 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399845800 rs1039767644 |
230 | D>H | No |
ClinGen gnomAD |
|
|
rs1039767644 CA291030831 |
230 | D>Y | No |
ClinGen gnomAD |
|
|
CA291030827 rs376298377 |
232 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs1182170998 CA399845776 |
232 | T>P | No |
ClinGen TOPMed |
|
|
rs573163091 CA291030818 |
233 | A>V | No |
ClinGen Ensembl |
|
|
rs1353739896 CA399845755 |
234 | A>D | No |
ClinGen gnomAD |
|
|
CA291030792 rs891262398 |
237 | E>K | No |
ClinGen gnomAD |
|
|
CA399845702 rs777180711 |
240 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8608878 rs777180711 |
240 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456844578 CA399845694 |
241 | Q>H | No |
ClinGen gnomAD |
|
|
rs1428792398 CA399845696 |
241 | Q>R | No |
ClinGen TOPMed |
|
|
CA8608876 rs151327900 |
245 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8608875 rs374224631 |
246 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8608874 rs374224631 |
246 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415130176 CA399845632 |
248 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399845633 rs1415130176 |
248 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399845622 rs1343320037 |
248 | S>N | No |
ClinGen TOPMed |
|
|
CA8608872 rs775147532 |
252 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs745784904 COSM168871 CA8608871 COSM1135945 |
254 | E>K | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8608870 rs781341982 |
256 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8608869 rs61726468 |
258 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1211401853 COSM1479651 CA399845421 COSM436715 |
259 | S>F | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA291029489 rs371968489 |
261 | F>S | No |
ClinGen Ensembl |
|
|
CA291029479 rs867057619 |
262 | A>V | No |
ClinGen Ensembl |
|
|
rs1597859162 CA399844762 |
263 | D>A | No |
ClinGen Ensembl |
|
|
CA8608850 rs777626578 |
263 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748366808 CA8608848 |
266 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201784046 CA8608847 |
269 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA291029413 rs896777690 |
271 | N>K | No |
ClinGen TOPMed |
|
|
CA399844700 rs1380362504 |
273 | E>D | No |
ClinGen gnomAD |
|
|
rs1452465921 CA399844695 |
274 | L>R | No |
ClinGen gnomAD |
|
|
rs868387526 CA291029402 |
276 | R>C | No |
ClinGen gnomAD |
|
|
rs766759277 CA8608844 |
280 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1597859028 CA399844663 |
280 | H>Y | No |
ClinGen Ensembl |
|
|
COSM1243284 CA8608843 rs756652110 COSM1243283 |
281 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA399844644 rs1204764312 |
282 | A>V | No |
ClinGen gnomAD |
|
|
RCV001643009 rs201382676 CA8608841 RCV001859916 |
283 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs373831531 CA291029346 |
286 | R>W | No |
ClinGen ESP TOPMed |
|
|
CA399844611 rs1304845428 |
287 | R>H | No |
ClinGen gnomAD |
|
|
RCV001093446 rs2051773949 |
289 | L>* | No |
ClinVar dbSNP |
|
|
rs1318141919 CA399844592 |
290 | Q>R | No |
ClinGen gnomAD |
|
|
CA8608839 rs765026945 |
293 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA399844567 rs1432362877 |
294 | C>Y | No |
ClinGen gnomAD |
|
|
rs553951207 CA8608837 |
295 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000056913 VAR_017479 CA217227 rs1126642 |
295 | D>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1488729263 CA399844534 |
300 | R>C | No |
ClinGen gnomAD |
|
|
rs1380208981 CA399844531 |
300 | R>H | No |
ClinGen gnomAD |
|
|
rs1265636628 CA399844526 |
301 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1265636628 CA399844527 |
301 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1375005534 CA399844462 |
305 | S>C | No |
ClinGen TOPMed |
|
|
CA399844461 rs1375005534 |
305 | S>F | No |
ClinGen TOPMed |
|
|
rs373961432 CA8608798 |
307 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1459530550 CA399844418 |
309 | Q>* | No |
ClinGen gnomAD |
|
|
rs767380067 CA8608796 |
311 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8608795 rs767380067 |
311 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064797223 CA399844373 |
312 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8608793 rs763868966 |
312 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763868966 CA399844381 |
312 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762694136 CA8608792 |
313 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs181509194 CA8608791 |
314 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399844344 rs143958696 |
315 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8608790 rs143958696 |
315 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399844333 rs1442478027 |
316 | R>G | No |
ClinGen TOPMed |
|
|
CA399844327 rs140004406 |
316 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8608789 rs140004406 |
316 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8608788 rs140004406 RCV001815825 |
316 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778466105 CA8608785 |
318 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399844309 rs1420094075 |
318 | V>M | No |
ClinGen TOPMed |
|
|
rs748483751 CA8608784 |
319 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8608783 rs748483751 |
319 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1435524831 CA399844299 |
319 | R>W | No |
ClinGen gnomAD |
|
|
CA8608781 rs527418824 |
320 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA291028732 rs867689190 |
322 | A>T | No |
ClinGen Ensembl |
|
|
rs1159375285 CA399844257 |
323 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399844237 rs767003792 |
324 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399844247 rs1296039714 |
324 | Y>H | No |
ClinGen gnomAD |
|
|
CA399844216 rs1182651820 |
326 | E>A | No |
ClinGen TOPMed |
|
|
CA8608778 rs756829992 |
327 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1418225076 CA399844182 |
329 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA291028679 rs983143417 |
330 | R>L | No |
ClinGen TOPMed |
|
|
rs762756830 CA8608775 |
332 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1597857829 CA399844124 |
333 | E>G | No |
ClinGen Ensembl |
|
|
CA8608774 rs775175861 |
334 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs759690553 CA8608772 |
335 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs149353780 RCV000254720 CA8608773 |
335 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759690553 CA399844066 |
335 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs777048832 CA8608771 |
337 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8608770 rs771129522 |
339 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs747136989 CA8608769 |
340 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399843934 rs773808836 |
341 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773808836 CA8608768 |
341 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138714181 CA8608767 |
343 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295139112 CA399843879 |
344 | R>C | No |
ClinGen gnomAD |
|
|
rs748482606 CA8608766 |
345 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399843771 rs1597857740 |
349 | Y>D | No |
ClinGen Ensembl |
|
|
RCV000415341 rs1057518828 CA16043529 |
349 | Y>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2051757454 RCV001093445 |
350 | Q>R | No |
ClinVar dbSNP |
|
|
rs779162714 CA8608765 |
351 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs755431595 CA8608764 |
353 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1421629467 CA399843653 |
354 | N>S | No |
ClinGen gnomAD |
|
|
rs1184699884 CA399843604 |
356 | K>R | No |
ClinGen TOPMed |
|
|
rs267607515 CA8608762 |
357 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399843521 rs1421576880 |
360 | D>Y | No |
ClinGen TOPMed |
|
|
rs780859347 CA8608761 |
361 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8608760 rs756735782 |
368 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399843407 rs1555574055 RCV000675411 |
369 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM3712337 COSM3712338 CA291028407 rs997766080 |
372 | G>D | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8608759 rs751087377 |
372 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1238527147 CA399842400 |
378 | T>I | No |
ClinGen gnomAD |
|
|
CA399842395 rs1285234929 |
379 | I>V | No |
ClinGen TOPMed |
|
|
CA8608738 rs200511148 |
381 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141327123 CA8608737 |
382 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8608736 rs267607517 |
383 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446658440 CA399842240 |
386 | N>D | No |
ClinGen gnomAD |
|
|
CA399842231 rs61726471 |
386 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399842075 rs1333731884 |
390 | R>Q | No |
ClinGen gnomAD |
|
|
CA8608734 rs369742944 |
391 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399839208 rs1244720897 |
392 | T>P | No |
ClinGen gnomAD |
|
|
rs781677823 CA8608631 |
393 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1319990276 CA399839132 |
397 | K>Q | No |
ClinGen gnomAD |
|
|
CA291024838 rs983015013 |
399 | V>E | No |
ClinGen TOPMed |
|
|
rs931595766 CA291024834 |
401 | E>D | No |
ClinGen TOPMed |
|
|
CA8608628 rs764845464 |
402 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753319383 CA8608626 |
403 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399839030 rs1385686936 |
403 | H>Y | No |
ClinGen gnomAD |
|
|
rs372700463 CA8608624 |
406 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399838976 rs1298379136 |
406 | R>K | No |
ClinGen gnomAD |
|
|
RCV000521369 CA399838948 rs1555573462 |
407 | N>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs767271541 CA8608622 |
408 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399838902 rs1567770657 |
409 | V>G | No |
ClinGen Ensembl |
|
|
CA399838917 rs1485688823 |
409 | V>M | No |
ClinGen TOPMed |
|
|
rs1387041551 CA399838850 |
413 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV001268864 rs2051680751 |
414 | E>missing | No |
ClinVar dbSNP |
|
|
rs121909717 CA399838798 |
416 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201270155 CA8608617 |
416 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399838783 rs1487652782 |
417 | D>N | No |
ClinGen gnomAD |
|
|
CA291024684 rs200573284 |
419 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8608615 rs746370529 |
419 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA399838757 rs1264917652 |
419 | E>K | No |
ClinGen gnomAD |
|
|
rs748570438 CA8608574 |
420 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271470332 CA399837748 |
420 | V>I | No |
ClinGen gnomAD |
|
|
RCV000487924 CA16621708 rs1064797222 |
421 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8608572 rs769443611 |
425 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398301848 CA399837705 |
426 | Q>E | No |
ClinGen gnomAD |
|
|
rs1567770135 CA891843700 |
426 | Q>V | No |
ClinGen Ensembl |
|
|
CA399837670 rs1286530776 |
430 | D>E | No |
ClinGen gnomAD |
|
|
CA8608570 rs780671204 |
430 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA399837668 rs1304326673 |
431 | V>M | No |
ClinGen TOPMed |
No associated diseases with P14136
6 regional properties for P14136
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Helicase, C-terminal | 540 - 735 | IPR001650 |
| conserved_site | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | 468 - 477 | IPR002464 |
| domain | Helicase-associated domain | 756 - 846 | IPR007502 |
| domain | DEAD/DEAH box helicase domain | 357 - 511 | IPR011545 |
| domain | DEAD-box helicase, OB fold | 903 - 980 | IPR011709 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 348 - 535 | IPR014001 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| astrocyte end-foot | Terminal process of astrocyte abutting non-neuronal surfaces in the brain. |
| cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of lysosomal membrane | The side (leaflet) of the lysosomal membrane that faces the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intermediate filament | A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. |
| intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| integrin binding | Binding to an integrin. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| astrocyte development | The process aimed at the progression of an astrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function. |
| Bergmann glial cell differentiation | The process in which neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| D-aspartate import across plasma membrane | The directed import of D-aspartate from the extracellular region across the plasma membrane and into the cytosol. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
| intermediate filament organization | Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| long-term synaptic potentiation | A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| neuron projection regeneration | The regrowth of neuronal processes such as axons or dendrites in response to their loss or damage. |
| positive regulation of Schwann cell proliferation | Any process that increases the frequency or rate of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. |
| regulation of chaperone-mediated autophagy | Any process that modulates the frequency, rate or extent of chaperone-mediated autophagy. |
| regulation of neurotransmitter uptake | Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into a neuron or glial cell. |
| regulation of protein-containing complex assembly | Any process that modulates the frequency, rate or extent of protein complex assembly. |
| response to wounding | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. |
| Schwann cell proliferation | The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41219 | PRPH | Peripherin | Homo sapiens (Human) | PR |
| P17661 | DES | Desmin | Homo sapiens (Human) | PR |
| P08670 | VIM | Vimentin | Homo sapiens (Human) | PR |
| P03995 | Gfap | Glial fibrillary acidic protein | Mus musculus (Mouse) | PR |
| P47819 | Gfap | Glial fibrillary acidic protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERRRITSAA | RRSYVSSGEM | MVGGLAPGRR | LGPGTRLSLA | RMPPPLPTRV | DFSLAGALNA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GFKETRASER | AEMMELNDRF | ASYIEKVRFL | EQQNKALAAE | LNQLRAKEPT | KLADVYQAEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RELRLRLDQL | TANSARLEVE | RDNLAQDLAT | VRQKLQDETN | LRLEAENNLA | AYRQEADEAT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LARLDLERKI | ESLEEEIRFL | RKIHEEEVRE | LQEQLARQQV | HVELDVAKPD | LTAALKEIRT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QYEAMASSNM | HEAEEWYRSK | FADLTDAAAR | NAELLRQAKH | EANDYRRQLQ | SLTCDLESLR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GTNESLERQM | REQEERHVRE | AASYQEALAR | LEEEGQSLKD | EMARHLQEYQ | DLLNVKLALD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IEIATYRKLL | EGEENRITIP | VQTFSNLQIR | ETSLDTKSVS | EGHLKRNIVV | KTVEMRDGEV |
| 430 | |||||
| IKESKQEHKD | VM |