Q99972
PR
Gene name |
MYOC (GLC1A, TIGR) |
Protein name |
Myocilin |
Names |
Myocilin 55 kDa subunit, Trabecular meshwork-induced glucocorticoid response protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4653 |
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
23 structures for Q99972
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4WXQ | X-ray | 215 A | A | 228-504 | PDB |
| 4WXS | X-ray | 190 A | A | 228-504 | PDB |
| 4WXU | X-ray | 209 A | A | 228-504 | PDB |
| 6OU0 | X-ray | 180 A | A | 228-504 | PDB |
| 6OU1 | X-ray | 188 A | A/B | 228-504 | PDB |
| 6OU2 | X-ray | 196 A | A | 228-504 | PDB |
| 6OU3 | X-ray | 180 A | A | 228-504 | PDB |
| 6PKD | X-ray | 190 A | A/B | 228-504 | PDB |
| 6PKE | X-ray | 188 A | A/B | 228-504 | PDB |
| 6PKF | X-ray | 148 A | A | 228-504 | PDB |
| 7SIB | X-ray | 178 A | A | 228-504 | PDB |
| 7SIJ | X-ray | 154 A | A | 228-504 | PDB |
| 7SJT | X-ray | 154 A | A | 228-504 | PDB |
| 7SJU | X-ray | 139 A | A | 228-504 | PDB |
| 7SJV | X-ray | 139 A | A | 228-504 | PDB |
| 7SJW | X-ray | 138 A | A | 228-504 | PDB |
| 7SKD | X-ray | 171 A | A | 228-504 | PDB |
| 7SKE | X-ray | 124 A | A | 228-504 | PDB |
| 7SKF | X-ray | 128 A | A | 228-504 | PDB |
| 7SKG | X-ray | 133 A | A | 228-504 | PDB |
| 7T8D | X-ray | 138 A | A | 228-504 | PDB |
| 8FRR | X-ray | 127 A | A | 244-502 | PDB |
| AF-Q99972-F1 | Predicted | AlphaFoldDB |
455 variants for Q99972
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001102465 rs1653382463 RCV001102464 |
11 | F>L | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001520658 VAR_009667 RCV001843371 RCV001100519 rs199752860 CA1244345 RCV001102463 RCV002249689 |
12 | G>R | Glaucoma Glaucoma 1, open angle, E Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs755246983 CA1244332 VAR_054271 |
25 | C>R | GLC1A [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP |
|
RCV000944958 CA119179 RCV001824115 RCV000008418 rs74315337 RCV000991157 RCV001100518 |
46 | R>* | Glaucoma Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) Glaucoma 1, open angle, a, autosomal recessive [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001520657 RCV001843352 CA119183 rs74315339 VAR_054272 RCV000296614 RCV000008421 RCV000008422 |
48 | Q>H | MYOC-Related Disorders Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 3, primary congenital, a, digenic Glaucoma 1, open angle, a (glc1a) GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001843365 RCV000778200 CA1244317 rs200208925 VAR_008969 |
53 | V>A | MYOC-Related Disorders Glaucoma of childhood GLC1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000318054 rs886045568 CA10608781 RCV000262848 |
75 | Q>R | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000173089 RCV001843356 RCV000994193 RCV000371420 VAR_009670 CA200294 RCV000316846 rs2234926 |
76 | R>K | Glaucoma Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000361088 rs886045567 CA10608383 RCV000266535 |
80 | T>N | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs764005392 VAR_009671 CA1244309 RCV001843367 |
82 | R>C | Glaucoma of childhood GLC1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA1244303 rs143413116 RCV002248286 |
91 | R>* | Glaucoma of childhood [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10608379 RCV000301813 rs140017103 RCV000265391 |
102 | L>M | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000310099 CA10608378 RCV000364737 rs886045566 |
112 | E>G | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000778199 rs757551979 CA343718634 |
115 | E>* | MYOC-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200120115 CA1244289 VAR_054277 |
126 | R>W | Variant assessed as Somatic; 0.0 impact. GLC1A [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000396227 RCV003147445 CA1244277 RCV000346645 rs114283307 |
147 | R>Q | Glaucoma Open-angle glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_054278 CA1244272 RCV001096962 RCV001838652 RCV001096963 RCV002249685 rs199746824 |
158 | R>Q | Glaucoma Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000352302 RCV002519409 RCV003105856 CA1244255 RCV000295103 rs201930435 RCV003147444 |
190 | D>Y | Glaucoma Open-angle glaucoma Glaucoma 1, open angle, A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1244251 RCV002853511 rs200492183 |
193 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1244214 rs61753850 RCV002509613 RCV001100400 RCV001100399 |
204 | T>M | Glaucoma Glaucoma 1, open angle, E Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_014943 RCV001100393 rs2234927 CA1244210 RCV001100394 RCV001838654 |
208 | D>E | Glaucoma Glaucoma 1, open angle, E Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200547613 RCV001098614 CA1244202 RCV001098615 |
218 | E>K | Glaucoma Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000282102 CA1244183 rs781655611 RCV000374266 |
243 | T>N | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_054280 rs757769997 CA1244164 |
244 | G>V | GLC1A; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001838523 CA119184 RCV000008423 rs74315340 VAR_054281 |
245 | C>Y | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_005468 | 246 | G>R | GLC1A [UniProt] | Yes | UniProt |
| VAR_054282 | 251 | V>A | GLC1A [UniProt] | Yes | UniProt |
|
RCV001838524 VAR_054283 rs74315341 CA119185 RCV000008424 |
252 | G>R | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA32686185 VAR_054284 rs982896610 |
261 | E>K | GLC1A [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
| VAR_054285 | 272 | R>G | GLC1A; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_054286 | 274 | P>R | GLC1A [UniProt] | Yes | UniProt |
|
CA10586137 RCV000239401 rs879255525 |
275 | K>* | Glaucoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1351328951 VAR_009675 CA343725818 |
286 | W>R | GLC1A [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
COSM899603 RCV000323016 CA1244135 rs767627671 RCV000380001 |
289 | D>N | Glaucoma Variant assessed as Somatic; 0.0 impact. Glaucoma 1, open angle, A endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10608375 RCV003165787 RCV000269977 RCV000362229 rs886045565 |
291 | V>I | Glaucoma Open-angle glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139122673 VAR_009676 RCV002554988 RCV001102259 CA1244131 RCV002249691 RCV001838655 |
293 | T>K | Glaucoma 1, open angle, E Glaucoma 1, open angle, A GLC1A; no effect on protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_054287 CA1244125 rs748621461 |
300 | E>K | GLC1A; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_054288 | 323 | E>K | GLC1A; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum [UniProt] | Yes | UniProt |
|
RCV000368089 rs775982158 RCV000311074 CA1244102 |
331 | S>L | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_054289 | 337 | Q>E | GLC1A [UniProt] | Yes | UniProt |
|
CA119177 RCV000008416 VAR_005469 rs74315335 |
337 | Q>R | Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA343725060 rs1572210748 VAR_054290 |
341 | S>P | GLC1A [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
| VAR_054291 | 342 | R>K | GLC1A [UniProt] | Yes | UniProt |
| VAR_054292 | 345 | I>M | GLC1A [UniProt] | Yes | UniProt |
|
CA1244087 RCV001517208 RCV001100278 RCV002249688 RCV001843370 rs61745146 VAR_009678 RCV001100277 |
352 | E>K | Glaucoma Glaucoma 1, open angle, E Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002246294 RCV002545045 CA1244086 VAR_009679 RCV001838657 rs137853277 |
353 | T>I | Glaucoma of childhood GLC1A; unknown pathological significance; no significant effect on protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_054293 | 360 | I>N | GLC1A [UniProt] | Yes | UniProt |
|
rs1344039930 CA343724789 VAR_009680 |
361 | P>S | GLC1A [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
| VAR_054294 | 363 | A>T | GLC1A [UniProt] | Yes | UniProt |
|
VAR_005470 RCV001838522 CA119170 RCV000008410 rs121909193 |
364 | G>V | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000255116 rs74315334 RCV002247272 RCV000008415 VAR_005471 CA119176 |
367 | G>R | Glaucoma of childhood Glaucoma 1, open angle, A Variant assessed as Somatic; impact. Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000008412 RCV000369379 COSM3689130 RCV000735309 RCV001843351 RCV001200372 CA119172 rs74315329 |
368 | Q>* | Glaucoma of childhood large_intestine Primary open angle glaucoma Glaucoma 1, open angle, A Severe combined immunodeficiency disease Glaucoma 1, open angle, a (glc1a) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_054295 | 369 | F>L | GLC1A [UniProt] | Yes | UniProt |
|
VAR_005472 RCV000255144 RCV000008411 rs74315330 RCV001843350 CA119171 |
370 | P>L | Glaucoma of childhood Glaucoma 1, open angle, A Variant assessed as Somatic; impact. Glaucoma 1, open angle, a (glc1a) GLC1A; severe form; inhibits endoproteolytic processing; produced the highest inhibition of the endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; inhibits neurite outgrowth [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA10583955 RCV000233750 rs878854408 |
371 | Y>H | Primary open angle glaucoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_054296 | 377 | T>K | GLC1A [UniProt] | Yes | UniProt |
|
COSM1662977 CA1244075 rs566289099 VAR_009681 |
377 | T>M | kidney GLC1A [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_009682 | 380 | D>A | GLC1A; incomplete penetrance; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum [UniProt] | Yes | UniProt |
| VAR_009683 | 380 | D>G | GLC1A [UniProt] | Yes | UniProt |
|
VAR_054297 RCV000008425 rs121909194 CA119186 RCV001843353 |
380 | D>H | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_054298 | 380 | D>N | GLC1A [UniProt] | Yes | UniProt |
|
rs1033533679 RCV000852370 CA32685677 |
385 | E>K | Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_054299 | 393 | S>N | GLC1A [UniProt] | Yes | UniProt |
|
VAR_009684 rs998968146 CA32685671 |
393 | S>R | GLC1A [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001100276 RCV002502599 RCV000514041 RCV000455387 RCV002248666 VAR_009685 rs56314834 CA1244064 |
398 | K>R | Glaucoma Glaucoma of childhood Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000008420 CA119182 RCV002509149 rs28936694 VAR_054300 RCV002512906 |
399 | G>V | Glaucoma of childhood Glaucoma 1, open angle, a, digenic GLC1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_009688 CA1244052 rs201573718 |
422 | R>H | GLC1A [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA119178 RCV000008417 RCV002247273 VAR_009689 rs74315336 |
423 | K>E | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A; heterozygote specific phenotype [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001100274 CA1244051 rs760065904 RCV001100275 |
424 | Q>H | Glaucoma Glaucoma 1, open angle, A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_005473 | 426 | V>F | GLC1A [UniProt] | Yes | UniProt |
|
rs754237376 CA1244050 COSM1216468 VAR_054302 |
427 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine GLC1A [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_008970 RCV002247274 CA119181 RCV000008419 rs74315338 |
433 | C>R | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A; severe form [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA343723925 VAR_054303 rs1200513428 |
434 | G>S | GLC1A [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
VAR_005474 RCV000008409 CA119169 RCV001843349 rs74315328 |
437 | Y>H | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_054304 | 438 | T>I | GLC1A [UniProt] | Yes | UniProt |
|
CA1244040 RCV001815434 RCV001843364 rs140967767 VAR_009691 RCV000778198 |
445 | A>V | MYOC-Related Disorders Glaucoma 1, open angle, E GLC1A; no effect on protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_054305 | 448 | T>P | GLC1A [UniProt] | Yes | UniProt |
|
CA1244035 COSM899599 rs572512491 RCV001098517 RCV001098516 |
449 | V>I | Glaucoma Glaucoma 1, open angle, A endometrium Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_054306 | 450 | N>D | GLC1A [UniProt] | Yes | UniProt |
|
RCV002248289 rs576458696 |
453 | Y>missing | Glaucoma of childhood [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_009692 | 465 | I>M | GLC1A [UniProt] | Yes | UniProt |
|
CA32685408 rs771122834 RCV001098515 COSM530533 VAR_009693 |
470 | R>C | lung Glaucoma Variant assessed as Somatic; 0.0 impact. GLC1A [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs554235897 CA1244027 VAR_054308 |
471 | Y>C | GLC1A; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002247382 RCV000023126 rs74315331 VAR_009695 CA129023 |
477 | I>N | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A; induces stress fiber formation in only 5% of cells [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs74315331 RCV000008413 VAR_005475 RCV002247270 CA119174 |
477 | I>S | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002247271 CA119175 rs74315332 RCV000008414 VAR_005476 |
480 | N>K | Glaucoma of childhood Glaucoma 1, open angle, A Glaucoma 1, open angle, a (glc1a) GLC1A [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_009696 | 481 | P>L | GLC1A [UniProt] | Yes | UniProt |
| VAR_009697 | 481 | P>T | GLC1A [UniProt] | Yes | UniProt |
| VAR_005477 | 499 | I>F | GLC1A [UniProt] | Yes | UniProt |
| VAR_054309 | 499 | I>S | GLC1A [UniProt] | Yes | UniProt |
| VAR_009700 | 502 | S>P | GLC1A [UniProt] | Yes | UniProt |
|
rs1319418513 CA343720271 |
2 | R>G | No |
ClinGen gnomAD |
|
| VAR_009665 | 4 | F>S | No | UniProt | |
|
rs1399909538 CA343720203 |
5 | C>W | No |
ClinGen gnomAD |
|
|
rs773309469 CA1244347 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343720184 rs1165545235 |
7 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs767625681 CA1244346 |
7 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_009666 | 9 | C>S | No | UniProt | |
|
rs533025374 CA1244340 |
15 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343720043 rs533025374 |
15 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1487918397 CA343720030 |
16 | P>A | No |
ClinGen gnomAD |
|
|
CA1244339 rs745439002 VAR_054269 |
16 | P>L | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
| VAR_054270 | 17 | A>S | No | UniProt | |
|
CA32666917 rs1029637512 |
17 | A>T | No |
ClinGen Ensembl |
|
|
CA343719974 CA1244336 rs2234925 VAR_009668 |
19 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs904659041 CA32666885 |
24 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32666865 rs149532234 |
28 | W>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA343719813 rs867193495 |
31 | G>A | No |
ClinGen gnomAD |
|
|
CA32666853 rs867193495 |
31 | G>E | No |
ClinGen gnomAD |
|
|
CA1244331 rs150724391 |
31 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 32 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343719801 rs1305434893 |
33 | R>G | No |
ClinGen gnomAD |
|
|
rs565284878 CA1244330 |
33 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1244329 rs756353011 |
37 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1244328 rs750585311 |
38 | R>K | No |
ClinGen ExAC |
|
|
CA343719718 rs1420573642 |
40 | A>T | No |
ClinGen gnomAD |
|
|
CA1244326 rs761877439 COSM1639615 |
40 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1572217509 CA343719682 |
42 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 44 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 45 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343719633 rs1201451610 |
45 | G>S | No |
ClinGen gnomAD |
|
|
rs74315337 CA1244322 |
46 | R>G | Glaucoma 1, open angle, a (glc1a) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs769391104 CA1244321 |
46 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1218795611 CA343719607 |
47 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1218795611 CA343719606 |
47 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA32666735 rs1030834727 |
48 | Q>P | No |
ClinGen TOPMed |
|
|
rs138599473 CA1244320 |
50 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343719548 rs748675180 |
52 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748675180 CA1244318 |
52 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_054273 | 57 | N>D | No | UniProt | |
|
rs561439247 VAR_054274 CA1244316 |
57 | N>S | loss of higher molecular weight isoform [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs376654753 CA343719347 |
61 | C>W | No |
ClinGen ESP TOPMed |
|
|
CA1244315 rs573459235 |
64 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1558090599 CA343719264 |
65 | S>T | No |
ClinGen Ensembl |
|
|
CA343719223 rs1330854720 |
67 | A>D | No |
ClinGen gnomAD |
|
|
rs780449635 CA1244314 |
70 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343719153 rs1178386851 |
71 | I>N | No |
ClinGen gnomAD |
|
|
rs750636723 CA1244312 |
72 | H>R | No |
ClinGen ExAC gnomAD |
|
| VAR_009669 | 73 | N>S | No | UniProt | |
|
rs781448289 CA343719089 |
75 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244311 rs781448289 |
75 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781448289 CA343719091 |
75 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470849217 CA343719060 |
77 | D>A | No |
ClinGen gnomAD |
|
| VAR_054275 | 77 | D>E | No | UniProt | |
|
CA1244308 rs201552559 VAR_009672 |
82 | R>H | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs762356089 CA32666651 |
83 | L>* | No |
ClinGen Ensembl |
|
|
CA343718966 rs1181173454 |
85 | L>V | No |
ClinGen TOPMed |
|
|
rs1225978246 CA343718951 |
86 | E>G | No |
ClinGen gnomAD |
|
|
rs1277050931 CA343718958 |
86 | E>K | No |
ClinGen gnomAD |
|
|
rs1377689688 CA343718920 |
89 | K>T | No |
ClinGen gnomAD |
|
|
rs201096489 CA1244304 |
90 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759216662 CA1244305 |
90 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1244302 rs760218096 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161305021 CA343718863 |
95 | L>M | No |
ClinGen TOPMed |
|
| VAR_054276 | 95 | L>P | No | UniProt | |
|
rs769096964 CA1244300 |
97 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA343718833 CA343718832 rs1391830390 |
97 | S>R | No |
ClinGen TOPMed |
|
|
CA343718828 rs1421478281 |
98 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244296 rs746215350 |
105 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA343718749 rs1244653519 |
105 | D>N | No |
ClinGen gnomAD |
|
|
rs1572217379 CA343718729 |
106 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 106 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145393453 CA32666615 |
108 | A>G | No |
ClinGen ESP |
|
|
rs1483089986 CA343718711 |
108 | A>S | No |
ClinGen gnomAD |
|
|
rs1231680001 CA343718677 |
111 | Q>R | No |
ClinGen gnomAD |
|
|
rs1236118923 CA343718646 |
114 | Q>* | No |
ClinGen gnomAD |
|
|
rs757551979 CA1244294 |
115 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244293 rs751747555 |
116 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777853471 CA1244292 |
118 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA343718567 rs1313640157 |
121 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1395679980 CA343718552 |
122 | G>V | No |
ClinGen gnomAD |
|
|
rs144709484 CA1244288 |
126 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343718525 rs1157512387 |
127 | E>V | No |
ClinGen gnomAD |
|
|
rs200971340 CA32666526 |
128 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1244286 rs766083192 |
128 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs200971340 CA1244287 |
128 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343718506 rs1164987138 |
130 | Q>R | No |
ClinGen gnomAD |
|
|
rs1412049762 CA343718501 |
131 | L>V | No |
ClinGen gnomAD |
|
|
CA343718489 rs1311878166 |
133 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343718476 rs1558090457 |
134 | Q>H | No |
ClinGen Ensembl |
|
|
CA1244283 rs766982506 |
135 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1244282 rs763394945 |
135 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244281 rs776116208 |
136 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770397942 CA343718461 |
137 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1244280 rs770397942 |
137 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA32666441 rs80003669 |
138 | L>W | No |
ClinGen Ensembl |
|
|
rs770435837 CA32666428 |
142 | Y>* | No |
ClinGen Ensembl |
|
|
CA32666436 rs576184926 |
142 | Y>C | No |
ClinGen Ensembl |
|
|
CA343718413 rs1572217281 |
144 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 146 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244278 rs376127682 |
147 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32666423 rs114283307 |
147 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227195040 CA343718384 |
149 | K>R | No |
ClinGen TOPMed |
|
|
rs1276825031 CA343718378 |
150 | S>A | No |
ClinGen TOPMed |
|
|
rs1220296487 COSM1499735 CA343718372 |
151 | V>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1244276 rs199705804 |
152 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777746857 CA1244275 |
153 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs772953473 CA32666402 |
153 | E>V | No |
ClinGen Ensembl |
|
|
CA1244274 rs758453030 |
155 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1392197716 CA343718314 |
156 | K>* | No |
ClinGen gnomAD |
|
|
CA343718293 rs1262516222 |
157 | K>T | No |
ClinGen TOPMed |
|
|
CA1244273 rs748152582 |
158 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199746824 CA343718281 |
158 | R>P | Glaucoma 1, open angle, a (glc1a) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1244270 rs753688004 |
160 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs967892293 CA32666352 |
161 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343718243 rs1423363951 |
162 | E>K | No |
ClinGen gnomAD |
|
|
CA32666312 COSM1472997 rs1022182938 |
164 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs766101256 CA1244269 |
165 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs755765093 CA1244268 |
166 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA343718170 rs1558090381 |
167 | A>S | No |
ClinGen Ensembl |
|
|
CA32666288 rs866606263 |
168 | R>T | No |
ClinGen Ensembl |
|
|
rs761428873 CA1244265 |
169 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244264 rs773733798 |
169 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA343718116 rs1404648434 |
171 | E>G | No |
ClinGen TOPMed |
|
|
CA343718091 rs1376748868 |
173 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 174 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244263 rs765906719 |
175 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1381988697 CA343718023 |
178 | A>T | No |
ClinGen TOPMed |
|
|
CA343718015 rs1216698710 |
178 | A>V | No |
ClinGen gnomAD |
|
|
rs777142456 CA1244260 |
183 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368373229 CA1244258 |
184 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368373229 CA343717954 |
184 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562604064 CA1244257 |
189 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs144579767 VAR_009673 CA1244256 |
189 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1468022137 CA343717853 |
191 | T>I | No |
ClinGen gnomAD |
|
|
rs546885845 CA32666240 COSM899606 |
192 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs749154597 CA1244252 COSM1689192 |
193 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755955429 CA1244250 |
194 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs750155414 CA1244249 |
195 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1244247 rs368581344 |
197 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA32666220 rs781102368 |
197 | P>S | No |
ClinGen gnomAD |
|
|
rs1036807734 CA343717774 |
198 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1036807734 CA343717772 |
198 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA32666212 rs1036807734 |
198 | G>V | No |
ClinGen TOPMed gnomAD |
|
| VAR_009674 | 203 | S>F | No | UniProt | |
|
CA1244215 rs61753850 |
204 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1244216 rs774504389 |
204 | T>S | No |
ClinGen ExAC |
|
|
rs1165182491 CA343727120 |
207 | L>M | No |
ClinGen gnomAD |
|
|
rs762742212 CA343727091 |
211 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762742212 CA1244209 |
211 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777606694 CA1244207 |
212 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1244208 rs148167336 |
212 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32687493 rs772953674 |
214 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1244205 rs531050114 VAR_054279 |
215 | L>P | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1572211780 CA343727051 |
217 | S>Y | No |
ClinGen Ensembl |
|
|
rs767943710 CA1244201 |
218 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1244200 rs757609473 |
220 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs751919607 CA1244199 |
221 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1244198 rs529138303 |
222 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1244196 rs200968862 |
223 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765191378 CA1244195 |
226 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1689190 CA1244194 rs759540800 |
226 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA343726995 rs1425541143 |
227 | I>M | No |
ClinGen gnomAD |
|
|
CA32687428 rs973465392 |
227 | I>V | No |
ClinGen gnomAD |
|
|
CA1244193 rs776482862 |
228 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs540578493 CA1244191 |
231 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA32687415 rs868255093 COSM1689189 |
232 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1244190 rs773127600 |
232 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773127600 CA32687422 |
232 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA343726960 rs1288620211 |
233 | S>A | No |
ClinGen gnomAD |
|
|
rs778512772 CA1244187 |
235 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556146800 CA1244188 |
235 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557741584 CA1244186 |
238 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343726928 COSM530532 rs557741584 |
238 | S>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1244185 rs748807517 |
239 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs537410373 CA32687363 |
240 | E>* | No |
ClinGen gnomAD |
|
|
CA343726908 rs1334182571 |
241 | G>A | No |
ClinGen TOPMed |
|
| rs1014944863 | 243 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757751695 CA1244182 |
244 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343726289 rs1572211009 |
247 | E>V | No |
ClinGen Ensembl |
|
|
CA343726267 rs1234663139 |
250 | W>C | No |
ClinGen TOPMed |
|
|
rs1177625094 CA343726265 |
251 | V>I | No |
ClinGen gnomAD |
|
|
CA343726258 rs778133478 |
252 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244162 rs778133478 |
252 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343726256 rs1176798762 |
253 | E>K | No |
ClinGen TOPMed |
|
|
CA343726238 rs1211406577 |
255 | L>V | No |
ClinGen gnomAD |
|
|
CA1244161 rs758812142 |
256 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200072086 CA1244159 |
256 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200072086 CA1244160 |
256 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1572210991 CA343726183 |
259 | T>I | No |
ClinGen Ensembl |
|
|
rs753875477 CA1244157 |
260 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1370855815 CA343726150 |
262 | T>K | No |
ClinGen gnomAD |
|
|
CA343726106 rs1366043025 |
265 | G>D | No |
ClinGen TOPMed |
|
|
CA343726114 rs1448638965 |
265 | G>S | No |
ClinGen gnomAD |
|
|
CA1244155 rs760721972 |
267 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767537634 CA1244153 |
268 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1244151 rs774185083 |
270 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343726021 rs1416385168 |
271 | M>I | No |
ClinGen gnomAD |
|
|
CA1244150 rs768209902 |
271 | M>K | No |
ClinGen ExAC gnomAD |
|
|
COSM899604 rs202176570 CA1244149 |
272 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343726012 rs1483207236 |
272 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769245094 CA1244147 |
274 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745360975 CA1244146 |
275 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572210937 CA343725954 |
276 | P>H | No |
ClinGen Ensembl |
|
|
CA1244143 rs772565902 |
281 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA343725849 rs1354582354 |
283 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1244141 rs748516657 |
284 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754051534 CA1244138 |
285 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244139 rs755159007 |
285 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1438439753 CA343725813 |
286 | W>* | No |
ClinGen TOPMed |
|
|
CA32686122 rs867417217 |
286 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 287 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145229172 CA1244137 |
287 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761755712 CA1244134 |
289 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1437593676 CA343725757 |
290 | T>A | No |
ClinGen TOPMed |
|
|
rs1558085980 CA343725753 |
290 | T>R | No |
ClinGen Ensembl |
|
|
rs751319338 CA1244133 |
293 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1244132 rs139122673 |
293 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1244130 rs143474164 |
294 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244129 rs769406646 |
295 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343725695 rs1221123939 |
295 | V>I | No |
ClinGen gnomAD |
|
|
COSM463423 CA1244128 rs759114694 |
296 | R>C | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1244127 rs145934417 |
296 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145934417 CA343725671 |
296 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244126 rs772580255 |
297 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343725588 rs1558085955 |
301 | Y>H | No |
ClinGen Ensembl |
|
|
CA343725548 rs144469479 |
303 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144469479 CA1244122 |
303 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244121 rs780460955 |
305 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1244120 rs756397695 |
305 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1382463589 COSM899602 CA343725475 |
308 | M>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1373074459 CA343725480 |
308 | M>T | No |
ClinGen gnomAD |
|
|
CA343725434 rs1268169520 |
311 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343725430 rs1193210485 |
312 | P>S | No |
ClinGen gnomAD |
|
|
rs376895063 CA1244116 |
313 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376895063 CA1244115 |
313 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA32685901 rs1054929295 |
314 | K>N | No |
ClinGen TOPMed |
|
|
rs942833087 CA32685900 |
315 | V>A | No |
ClinGen TOPMed |
|
|
rs1318342394 CA343725367 |
317 | I>K | No |
ClinGen gnomAD |
|
|
rs759128833 CA1244111 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1244110 rs759128833 |
321 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1244109 COSM1737715 rs147122394 |
325 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA343725261 rs1243570852 |
326 | G>D | No |
ClinGen TOPMed |
|
|
CA343725270 rs1447891498 |
326 | G>S | No |
ClinGen gnomAD |
|
|
rs1396237295 CA343725257 |
327 | A>T | No |
ClinGen gnomAD |
|
|
VAR_009677 rs146391864 CA1244106 |
329 | V>M | slightly decreased protein stability [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1244103 rs749735333 |
330 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs137853276 CA32685841 |
331 | S>T | No |
ClinGen Ensembl |
|
|
CA1244100 rs746048852 |
333 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201206951 CA1244099 |
334 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1249595170 CA343725164 |
334 | L>V | No |
ClinGen gnomAD |
|
|
CA32685813 rs909669034 |
335 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA343725112 rs1280400300 |
337 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758257704 CA1244096 |
339 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1244095 rs758257704 COSM252635 |
339 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1558085881 CA343725076 |
340 | E>K | No |
ClinGen Ensembl |
|
|
rs764942545 CA1244093 |
342 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1470777036 CA343725020 |
343 | T>I | No |
ClinGen TOPMed |
|
|
rs1335500346 CA343724992 |
345 | I>T | No |
ClinGen gnomAD |
|
|
CA1244092 rs61730974 |
347 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765926032 CA1244090 |
351 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760271913 CA1244089 |
351 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs61745146 CA343724904 |
352 | E>Q | Glaucoma 1, open angle, a (glc1a) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1244084 rs770236294 |
357 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776956998 CA1244083 |
358 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs776956998 CA1244082 |
358 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA32685736 rs963929660 |
360 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343724785 rs1198457923 |
361 | P>L | No |
ClinGen TOPMed |
|
|
CA1244081 rs771057339 |
364 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244080 rs747174989 |
366 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA32685705 rs1003013455 |
370 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1003013455 CA343724694 |
370 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs989306028 CA32685688 |
373 | W>* | No |
ClinGen Ensembl |
|
|
rs1349583775 CA343724611 |
377 | T>A | No |
ClinGen gnomAD |
|
|
rs755706856 CA1244073 |
381 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1244072 rs749960559 |
387 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 389 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343724447 rs1572210659 |
390 | V>G | No |
ClinGen Ensembl |
|
|
rs765809047 CA1244068 |
395 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244069 rs369157032 |
395 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771200816 CA1244066 |
397 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771200816 CA1244065 |
397 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343724333 rs1329624632 |
400 | A>D | No |
ClinGen TOPMed |
|
|
rs1187084570 CA343724330 |
401 | I>L | No |
ClinGen gnomAD |
|
|
CA343724325 COSM899601 rs1474206328 |
401 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| VAR_009686 | 402 | V>I | No | UniProt | |
|
CA343724306 rs1482024411 |
403 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1056051290 CA32685642 |
404 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 407 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 410 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 411 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768574920 CA1244060 |
413 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 413 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768574920 CA1244061 |
413 | L>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_054301 rs1351097164 CA343724203 COSM677153 |
414 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP |
|
CA343724185 rs1283752683 |
415 | Q>* | No |
ClinGen TOPMed |
|
|
CA1244058 rs779654151 |
416 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1572210597 CA343724175 |
416 | T>P | No |
ClinGen Ensembl |
|
|
rs139804296 CA1244056 |
417 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1244057 rs755824609 |
417 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1558085740 CA343724151 |
418 | E>G | No |
ClinGen Ensembl |
|
|
CA1244055 rs780876895 |
418 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1270841723 CA343724143 |
419 | T>A | No |
ClinGen gnomAD |
|
|
rs150438494 CA1244054 |
420 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343724122 rs1343888715 |
421 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA343724124 rs1343888715 |
421 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
VAR_009687 CA1244053 rs751113505 |
422 | R>C | no effect on protein stability [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA32685564 rs888606739 |
424 | Q>P | No |
ClinGen Ensembl |
|
|
CA343724081 rs1164030447 |
425 | S>* | No |
ClinGen gnomAD |
|
| VAR_009690 | 425 | S>P | decreases protein stability [UniProt] | No | UniProt |
|
CA343724035 rs1157389554 |
429 | A>T | No |
ClinGen TOPMed |
|
|
rs1168442640 CA343723990 |
430 | F>S | No |
ClinGen gnomAD |
|
|
rs1367941231 CA343723911 |
434 | G>A | No |
ClinGen TOPMed |
|
|
CA343723903 rs1572210549 |
435 | T>P | No |
ClinGen Ensembl |
|
|
CA1244045 rs761947583 |
438 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244043 rs371891266 |
439 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1244041 rs775380030 |
443 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs142680834 CA1244039 |
446 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244038 rs142680834 |
446 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244037 COSM207963 rs756961599 |
447 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA343723669 rs1239082043 |
448 | T>A | No |
ClinGen TOPMed |
|
|
rs1356088463 CA343723635 |
450 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343723617 rs1329411391 |
452 | A>P | No |
ClinGen gnomAD |
|
|
CA343723550 rs1454443086 |
456 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1173878054 CA343723552 |
456 | G>R | No |
ClinGen gnomAD |
|
|
rs1454443086 CA343723548 |
456 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343723533 rs1431648915 |
457 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343723529 rs1394030997 |
458 | G>C | No |
ClinGen gnomAD |
|
|
CA32685424 rs868311329 |
458 | G>V | No |
ClinGen Ensembl |
|
|
CA343723436 rs1439485874 |
464 | T>I | No |
ClinGen TOPMed |
|
|
rs1233844388 CA343723415 |
466 | P>S | No |
ClinGen gnomAD |
|
|
rs756472086 CA1244029 |
469 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244028 VAR_054307 COSM1499738 rs750791099 |
470 | R>H | lung haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
CA343723333 rs750791099 |
470 | R>L | No |
ClinGen ExAC gnomAD |
|
| VAR_009694 | 473 | Y>C | no effect on protein stability [UniProt] | No | UniProt |
|
CA343723239 rs1375215503 |
475 | S>G | No |
ClinGen gnomAD |
|
|
CA32685343 rs760260934 |
476 | M>K | No |
ClinGen gnomAD |
|
|
CA1244023 rs764112994 |
476 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs760260934 CA32685348 |
476 | M>R | No |
ClinGen gnomAD |
|
|
CA1244022 rs763068244 |
481 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs376735175 CA1244021 |
484 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA32685315 rs769767738 |
485 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs776513776 CA1244017 |
488 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024809888 CA32685279 |
490 | D>V | No |
ClinGen Ensembl |
|
|
rs777445056 CA1244014 |
491 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343722923 rs1468931184 |
494 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_009698 | 495 | V>I | No | UniProt | |
|
CA343722897 rs1239668610 |
496 | T>S | No |
ClinGen gnomAD |
|
|
rs727504025 RCV000153526 CA234297 |
497 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA1244011 rs145977437 VAR_009699 |
500 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1244012 rs145977437 |
500 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1244010 rs756630885 |
503 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA343722750 rs1250923800 |
504 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | M>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q99972
No regional properties for Q99972
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q99972 | |||
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| node of Ranvier | An axon part that is a gap in the myelin where voltage-gated sodium channels cluster and saltatory conduction is executed. |
| rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| fibronectin binding | Binding to a fibronectin, a group of related adhesive glycoproteins of high molecular weight found on the surface of animal cells, connective tissue matrices, and in extracellular fluids. |
| frizzled binding | Binding to a frizzled (fz) receptor. |
| metal ion binding | Binding to a metal ion. |
| myosin light chain binding | Binding to a light chain of a myosin complex. |
| receptor tyrosine kinase binding | Binding to a receptor that possesses protein tyrosine kinase activity. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| bone development | The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. |
| clustering of voltage-gated sodium channels | The process in which voltage-gated sodium channels become localized together in high densities. In animals, nodes of Ranvier differ dramatically from internodal axonal regions in very high densities of voltage-dependent sodium (Nav) channels responsible for the rapid, inward ionic currents that produce membrane depolarization. |
| ERBB2-ERBB3 signaling pathway | The series of molecular signals initiated by binding of a ligand to a ERBB3 receptor on the surface of a cell, followed by transmission of the signal by a heterodimeric complex of ERBB2 and ERBB3. ERBB2, which does not bind any known ligand, is activated through formation of a heterodimer with another ligand-activated ERBB family member such as ERBB3. ERBB3 also has impaired kinase activity and relies on ERBB2 for activation and signal transmission. |
| myelination in peripheral nervous system | The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| negative regulation of cell-matrix adhesion | Any process that stops, prevents, or reduces the rate or extent of cell adhesion to the extracellular matrix. |
| negative regulation of Rho protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction. |
| negative regulation of stress fiber assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| 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). |
| non-canonical Wnt signaling pathway via JNK cascade | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, where the signal is passed on via the JNK cascade. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of focal adhesion assembly | Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
| positive regulation of mitochondrial depolarization | Any process that activates, maintains or increases the frequency, rate or extent of the change in the membrane potential of the mitochondria from negative to positive. |
| positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| positive regulation of substrate adhesion-dependent cell spreading | Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
| regulation of MAPK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| skeletal muscle hypertrophy | The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q594P2 | MYOC | Myocilin | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q25C36 | OLFML3 | Olfactomedin-like protein 3 | Gallus gallus (Chicken) | PR |
| Q9IAK4 | OLFM1 | Noelin | Gallus gallus (Chicken) | PR |
| Q2PT31 | MYOC | Myocilin | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| Q99784 | OLFM1 | Noelin | Homo sapiens (Human) | PR |
| O88998 | Olfm1 | Noelin | Mus musculus (Mouse) | PR |
| Q80TR1 | Adgrl1 | Adhesion G protein-coupled receptor L1 | Mus musculus (Mouse) | PR |
| Q62609 | Olfm1 | Noelin | Rattus norvegicus (Rat) | PR |
| A4IIT5 | olfml2a | Olfactomedin-like protein 2A | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRFFCARCCS | FGPEMPAVQL | LLLACLVWDV | GARTAQLRKA | NDQSGRCQYT | FSVASPNESS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CPEQSQAMSV | IHNLQRDSST | QRLDLEATKA | RLSSLESLLH | QLTLDQAARP | QETQEGLQRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGTLRRERDQ | LETQTRELET | AYSNLLRDKS | VLEEEKKRLR | QENENLARRL | ESSSQEVARL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RRGQCPQTRD | TARAVPPGSR | EVSTWNLDTL | AFQELKSELT | EVPASRILKE | SPSGYLRSGE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GDTGCGELVW | VGEPLTLRTA | ETITGKYGVW | MRDPKPTYPY | TQETTWRIDT | VGTDVRQVFE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YDLISQFMQG | YPSKVHILPR | PLESTGAVVY | SGSLYFQGAE | SRTVIRYELN | TETVKAEKEI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PGAGYHGQFP | YSWGGYTDID | LAVDEAGLWV | IYSTDEAKGA | IVLSKLNPEN | LELEQTWETN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IRKQSVANAF | IICGTLYTVS | SYTSADATVN | FAYDTGTGIS | KTLTIPFKNR | YKYSSMIDYN |
| 490 | 500 | ||||
| PLEKKLFAWD | NLNMVTYDIK | LSKM |