P20020
SS
Gene name |
ATP2B1 (PMCA1) |
Protein name |
Plasma membrane calcium-transporting ATPase 1 |
Names |
EC 7.2.2.10 , Plasma membrane calcium ATPase isoform 1 , PMCA1 , Plasma membrane calcium pump isoform 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:490 |
EC number |
7.2.2.10: Linked to the hydrolysis of a nucleoside triphosphate |
Protein Class |
|
Descriptions
The plasmid membrane Ca2+ pump (PMCA) extrudes Ca2+ from the cytosol to the extracellular space playing an important role in the maintenance of the resting level of intracellular Ca2+ and in the control of the Ca2+ transients. The PMCAs are of major physiological importance, with different isoforms being essential for presynaptic and postsynaptic Ca2+ regulation in neurons and for feedback signaling in the heart and sperm motility. The PMCAs belong to the subtype 2B of P-type ATPases. The C-terminal segment of the PMCA functions as an autoinhibitory domain by interacting with the catalytic core. Ca2+-calmodulin binds to the C-terminal segment and stops inhibition by switching the PMCA to an activated state of higher maximum activity and affinity for Ca2+. In the PMCA3, the G1107D replacement impairs the autoinhibition mechanism by introducing a negative charge perturbing the contacts between the calmodulin binding domain and the pump core.
Autoinhibitory domains (AIDs)
Target domain |
356-1063 (P-type ATPase domain) |
Relief mechanism |
Partner binding, Ligand binding |
Assay |
|
Target domain |
455-1058 (P-type ATPase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
455-1058 (P-type ATPase domain) |
Relief mechanism |
Partner binding, Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Calì T et al. (2017) "The ataxia related G1107D mutation of the plasma membrane Ca(2+) ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process", Biochimica et biophysica acta. Molecular basis of disease, 1863, 165-173
- Carafoli E (1994) "Biogenesis: plasma membrane calcium ATPase: 15 years of work on the purified enzyme", FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 8, 993-1002
- Tidow H et al. (2010) "Expression, purification, crystallization and preliminary X-ray analysis of calmodulin in complex with the regulatory domain of the plasma-membrane Ca2+-ATPase ACA8", Acta crystallographica. Section F, Structural biology and crystallization communications, 66, 361-3
- Saffioti NA et al. (2021) "Conformational changes during the reaction cycle of plasma membrane Ca2+-ATPase in the autoinhibited and activated states", The Biochemical journal, 478, 2019-2034
- Calì T et al. (2018) "The PMCA pumps in genetically determined neuronal pathologies", Neuroscience letters, 663, 2-11
- Corradi GR et al. (2007) "Intramolecular fluorescence resonance energy transfer between fused autofluorescent proteins reveals rearrangements of the N- and C-terminal segments of the plasma membrane Ca2+ pump involved in the activation", The Journal of biological chemistry, 282, 35440-8
- Osborn KD et al. (2005) "Single-molecule characterization of the dynamics of calmodulin bound to oxidatively modified plasma-membrane Ca2+-ATPase", Biochemistry, 44, 11074-81
- Lopreiato R et al. (2014) "The plasma membrane calcium pump: new ways to look at an old enzyme", The Journal of biological chemistry, 289, 10261-10268
- Bredeston LM et al. (2004) "Loss of autoinhibition of the plasma membrane Ca(2+) pump by substitution of aspartic 170 by asparagin. A ctivation of plasma membrane calcium ATPase 4 without disruption of the interaction between the catalytic core and the C-terminal regulatory domain", The Journal of biological chemistry, 279, 41619-25
- Pinto Fde T et al. (2002) "Deletions in the acidic lipid-binding region of the plasma membrane Ca2+ pump. A mutant with high affinity for Ca2+ resembling the acidic lipid-activated enzyme", The Journal of biological chemistry, 277, 12784-9
Autoinhibited structure
Activated structure
2 structures for P20020
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6A69 | EM | 411 A | A | 1-1220 | PDB |
| AF-P20020-F1 | Predicted | AlphaFoldDB |
469 variants for P20020
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087432 | 153 | W>del | MRD66 [UniProt] | Yes | UniProt |
| VAR_087433 | 239 | D>G | MRD66; decreased calcium ion export across plasma membrane; decreased localization to plasma membrane [UniProt] | Yes | UniProt |
| VAR_087434 | 264 | T>I | MRD66; decreased calcium ion export across plasma membrane; decreased localization to plasma membrane [UniProt] | Yes | UniProt |
| VAR_087435 | 425 | T>K | MRD66; decreased calcium ion export across plasma membrane [UniProt] | Yes | UniProt |
|
RCV001262498 VAR_087436 rs1879993052 |
459 | H>R | Neurodevelopmental disorder MRD66; decreased calcium ion export across plasma membrane [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087437 | 597 | R>del | MRD66 [UniProt] | Yes | UniProt |
| VAR_087439 | 763 | R>P | MRD66; decreased calcium ion export across plasma membrane [UniProt] | Yes | UniProt |
|
rs1161061134 CA386123373 VAR_087441 |
789 | R>C | Variant assessed as Somatic; 0.0 impact. MRD66; decreased calcium ion export across plasma membrane [NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA gnomAD UniProt |
| VAR_087442 | 824 | E>K | MRD66; decreased calcium ion export across plasma membrane [UniProt] | Yes | UniProt |
| VAR_087443 | 857 | Q>R | MRD66; decreased calcium ion export across plasma membrane [UniProt] | Yes | UniProt |
| VAR_087444 | 878 | Q>del | MRD66 [UniProt] | Yes | UniProt |
|
rs1433458409 VAR_087445 CA386002028 |
991 | R>Q | Variant assessed as Somatic; 0.0 impact. MRD66; decreased calcium ion export across plasma membrane; decreased localization to plasma membrane [NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA gnomAD UniProt |
|
rs756475314 CA6715748 |
2 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA386129137 rs913642977 |
2 | G>R | No |
ClinGen TOPMed |
|
|
CA241610847 rs913642977 |
2 | G>S | No |
ClinGen TOPMed |
|
|
rs1198120882 CA386129131 |
3 | D>N | No |
ClinGen TOPMed |
|
|
CA6715745 rs759945140 |
5 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386129112 rs1376235206 |
5 | A>V | No |
ClinGen gnomAD |
|
|
CA386129110 rs1278266616 |
6 | N>D | No |
ClinGen gnomAD |
|
|
CA6715742 rs763427775 |
10 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 11 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA241610846 rs769289945 |
12 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715740 rs769289945 |
12 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402213702 CA606676638 |
15 | K>* | No |
ClinGen gnomAD |
|
|
rs1455238296 CA386129041 |
16 | N>S | No |
ClinGen TOPMed |
|
|
CA241610845 rs936812988 |
17 | S>Y | No |
ClinGen gnomAD |
|
|
CA241610844 rs910658164 |
18 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA241610843 rs986153546 |
23 | H>R | No |
ClinGen TOPMed |
|
|
rs761429492 CA6715738 |
24 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs776352504 CA386128974 |
26 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776352504 CA6715737 |
26 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715735 rs201371800 |
27 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs116694524 CA6715733 |
30 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6715732 COSM1184056 rs116694524 |
30 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6715730 rs778061415 |
31 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781505973 CA6715727 |
32 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386128939 rs1345171288 |
32 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386128923 rs1432673286 |
34 | L>P | No |
ClinGen gnomAD |
|
|
rs1355075434 CA386128920 |
35 | R>Q | No |
ClinGen gnomAD |
|
|
CA6715726 rs758320564 |
35 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715725 rs751968660 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1263112089 CA386128903 |
38 | M>T | No |
ClinGen gnomAD |
|
|
rs1414899662 CA386128905 |
38 | M>V | No |
ClinGen gnomAD |
|
|
CA6715724 rs766697125 |
40 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1487419438 CA386128858 |
44 | D>E | No |
ClinGen TOPMed |
|
|
rs1209005873 CA386128853 |
45 | A>G | No |
ClinGen TOPMed |
|
|
rs765667387 CA6715721 |
47 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775957084 CA6715719 |
49 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386128823 rs763857320 |
50 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763857320 CA6715718 |
50 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241610841 rs962360763 |
52 | S>R | No |
ClinGen TOPMed |
|
|
CA6715717 rs760217595 |
52 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1035673256 CA241610840 |
53 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1186543761 CA386128805 |
53 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715715 rs771984069 |
57 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241610837 rs199788279 |
57 | Y>H | No |
ClinGen Ensembl |
|
|
CA6715714 rs745605065 |
59 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA241610836 rs764482904 |
61 | T>I | No |
ClinGen Ensembl |
|
|
rs1359611552 CA386128742 |
62 | K>I | No |
ClinGen gnomAD |
|
|
CA386128738 rs1288135110 |
63 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457049456 CA386128715 |
66 | S>F | No |
ClinGen TOPMed |
|
|
rs774430402 CA6715713 |
68 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779118993 CA6715686 |
72 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1451373022 CA386128449 |
72 | S>N | No |
ClinGen TOPMed |
|
|
rs200832650 CA6715685 CA6715684 |
72 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs922044331 CA241609235 |
75 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1162126753 CA386128425 |
76 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1162126753 CA386128426 |
76 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs373320828 CA6715682 |
77 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1364918055 CA386128381 |
82 | E>G | No |
ClinGen gnomAD |
|
|
CA386128377 rs1429833127 |
83 | A>T | No |
ClinGen TOPMed |
|
|
rs1320779337 CA386128367 |
84 | V>A | No |
ClinGen TOPMed |
|
|
CA386128345 rs1366956886 |
87 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 89 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386128321 rs1200227330 |
90 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369208338 CA6715679 |
91 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386128304 rs1313753997 |
93 | K>R | No |
ClinGen TOPMed |
|
|
rs1356182151 CA386128296 |
94 | K>M | No |
ClinGen TOPMed |
|
|
COSM1299947 rs1267016867 CA386128295 |
94 | K>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6715678 rs751408558 |
95 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386128275 rs1351082477 |
97 | T>I | No |
ClinGen gnomAD |
|
|
rs763004558 CA6715676 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386128201 rs1565859931 |
108 | D>H | No |
ClinGen Ensembl |
|
|
CA386128166 rs1343306708 |
113 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386128168 rs1343306708 |
113 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 115 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386128139 rs1302109956 |
117 | A>P | No |
ClinGen gnomAD |
|
|
rs201387630 CA6715672 |
119 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772321957 CA6715671 |
121 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA241609233 rs779224608 |
122 | L>S | No |
ClinGen Ensembl |
|
|
CA241609231 rs963487659 |
125 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 127 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 128 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372204223 CA6715669 |
128 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA241609230 rs1040479773 |
131 | E>A | No |
ClinGen Ensembl |
|
|
rs1177310181 CA386128047 |
131 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6715668 rs771216639 |
133 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA241609229 rs944978132 |
134 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749604136 CA6715667 |
136 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775614988 CA6715649 |
137 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1426531664 CA386127984 |
139 | E>G | No |
ClinGen TOPMed |
|
|
rs1195860619 CA386127977 |
140 | V>A | No |
ClinGen gnomAD |
|
|
CA6715648 rs772127795 |
140 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA241608491 rs965242753 |
141 | S>F | No |
ClinGen Ensembl |
|
|
rs978599421 CA241608492 |
141 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 141 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1009529843 CA241608489 |
143 | G>W | No |
ClinGen TOPMed |
|
|
rs968572978 CA241608488 |
144 | E>K | No |
ClinGen TOPMed |
|
|
CA386127938 rs1226692973 |
146 | E>D | No |
ClinGen gnomAD |
|
|
CA386127923 rs1364861691 |
149 | G>S | No |
ClinGen gnomAD |
|
|
CA241608487 rs1020535897 |
151 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774444929 CA6715646 |
157 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA386127856 rs1333654436 |
159 | I>V | No |
ClinGen gnomAD |
|
|
CA241608484 rs377147803 |
161 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773601173 CA6715643 |
164 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1736921 CA241608483 rs754271168 |
168 | L>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754271168 CA6715642 |
168 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3936194 rs746461484 CA6715638 |
187 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 190 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203927742 CA386127619 |
192 | Q>H | No |
ClinGen gnomAD |
|
|
rs1362270830 CA386127603 |
194 | F>L | No |
ClinGen gnomAD |
|
|
CA386127601 rs1341907710 |
195 | T>P | No |
ClinGen gnomAD |
|
|
rs755865284 CA241608481 |
199 | G>A | No |
ClinGen Ensembl |
|
|
rs779604481 CA6715637 |
199 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715636 rs758047541 |
201 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030345157 CA241608480 |
207 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765013158 CA6715634 |
209 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715633 rs372378449 |
211 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6715632 rs753788666 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6715631 rs763956684 |
215 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386127455 rs1165291970 |
218 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386127376 rs1303806759 |
228 | G>S | No |
ClinGen TOPMed |
|
|
CA6715609 rs149203241 |
230 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149203241 CA6715608 |
230 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431010397 CA386127354 |
231 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386127341 rs1200238528 |
233 | G>D | No |
ClinGen gnomAD |
|
|
CA386127334 rs1487717507 |
234 | N>S | No |
ClinGen gnomAD |
|
|
rs967671759 CA386127324 |
235 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA241608475 rs915033967 |
248 | D>N | No |
ClinGen Ensembl |
|
|
CA386127224 rs1266747944 |
249 | H>Q | No |
ClinGen gnomAD |
|
|
CA386127222 rs1208222139 |
250 | V>L | No |
ClinGen gnomAD |
|
|
CA6715606 rs765489529 |
253 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6715605 rs762300665 |
257 | D>A | No |
ClinGen ExAC |
|
|
CA386127073 rs1271571848 |
265 | H>R | No |
ClinGen TOPMed |
|
| VAR_000698 | 267 | M>R | No | UniProt | |
|
CA386127062 rs1361555964 |
267 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs543717834 CA241608018 |
277 | A>G | No |
ClinGen Ensembl |
|
|
rs1565843111 CA386126993 |
277 | A>T | No |
ClinGen Ensembl |
|
|
rs769648083 CA6715574 |
281 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 288 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781222780 CA6715572 |
289 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs926620172 CA241608017 |
294 | G>E | No |
ClinGen Ensembl |
|
|
CA386126879 rs1467468120 |
295 | G>S | No |
ClinGen TOPMed |
|
|
rs367679841 CA241608015 |
299 | E>G | No |
ClinGen ESP |
|
|
CA386126822 rs1333146942 |
302 | D>E | No |
ClinGen TOPMed |
|
|
rs1174275304 CA386126826 |
302 | D>Y | No |
ClinGen gnomAD |
|
|
CA386126819 rs1370730512 |
303 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386126815 rs1163228653 |
303 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386126777 rs1303431055 |
308 | K>R | No |
ClinGen TOPMed |
|
|
CA241607684 rs1039244020 |
310 | N>I | No |
ClinGen Ensembl |
|
|
CA386126724 rs1161525325 |
313 | Q>H | No |
ClinGen gnomAD |
|
|
CA386126708 rs1471628978 |
316 | A>T | No |
ClinGen gnomAD |
|
|
CA386126700 rs1592784798 |
317 | I>F | No |
ClinGen Ensembl |
|
|
rs746928872 CA6715552 |
317 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs868096531 COSM1586788 CA241607682 |
320 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386126678 rs1200336674 |
320 | R>H | No |
ClinGen gnomAD |
|
|
CA6715551 rs780080839 |
321 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386126616 rs1372772385 |
327 | D>G | No |
ClinGen TOPMed |
|
|
rs1464050065 CA386126606 |
329 | A>T | No |
ClinGen gnomAD |
|
|
CA386126596 rs1302736621 |
330 | A>G | No |
ClinGen TOPMed |
|
|
rs1263294084 CA386126593 |
331 | M>V | No |
ClinGen gnomAD |
|
|
CA386126556 rs1331903509 |
335 | P>Q | No |
ClinGen TOPMed |
|
|
rs200266753 COSM1188567 CA241607556 |
337 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs776547245 CA6715536 |
342 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386126497 rs1229014660 |
344 | G>S | No |
ClinGen TOPMed |
|
|
CA386126494 rs1276750412 |
344 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715534 rs746732630 |
350 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA241607554 rs957963550 |
352 | A>S | No |
ClinGen Ensembl |
|
|
rs775597893 CA386126417 |
354 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386126416 rs1337528488 |
355 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386126371 rs1565836835 |
361 | V>I | No |
ClinGen Ensembl |
|
|
rs75499492 CA241607553 |
371 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 377 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760566693 CA6715514 |
381 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs772172164 CA6715513 |
383 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772172164 CA6715512 |
383 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386126194 rs1291230094 |
386 | I>T | No |
ClinGen gnomAD |
|
|
CA386126182 rs1230457203 |
388 | L>Q | No |
ClinGen gnomAD |
|
|
CA6715510 rs761323839 |
390 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386126155 rs1565833597 |
392 | F>S | No |
ClinGen Ensembl |
|
|
rs769780910 CA6715509 |
394 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715508 rs748194610 |
395 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6715507 rs781426967 |
397 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386126110 rs1157005987 |
399 | V>I | No |
ClinGen TOPMed |
|
|
rs768818145 CA6715506 |
400 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6715505 rs747425740 |
403 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs116585190 CA6715504 |
406 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386126028 rs1473265950 |
411 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 413 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs905770927 CA241607309 |
413 | I>V | No |
ClinGen gnomAD |
|
|
CA6715501 rs184588664 |
420 | F>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs756747575 CA6715500 |
420 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386125945 rs1565833344 |
422 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 429 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA241607308 rs111662116 |
435 | L>F | No |
ClinGen Ensembl |
|
|
rs1335894492 CA386125784 |
448 | K>R | No |
ClinGen TOPMed |
|
|
CA6715467 rs755885500 |
452 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386125740 rs1291389721 |
452 | K>R | No |
ClinGen TOPMed |
|
|
rs767135689 CA6715465 |
463 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6715463 rs751322982 |
472 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 479 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764147256 CA6715459 |
482 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs776758944 CA6715460 |
482 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs530538884 CA6715456 |
488 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746265951 CA6715455 |
492 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386125448 rs1275155891 |
494 | E>G | No |
ClinGen gnomAD |
|
|
rs1196405697 CA386125442 |
495 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 495 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340017617 CA386125431 |
496 | H>R | No |
ClinGen gnomAD |
|
|
rs201948094 CA241607075 |
497 | Y>H | No |
ClinGen Ensembl |
|
|
rs749796242 CA6715452 |
499 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386125404 rs997873226 |
500 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA241607074 rs997873226 |
500 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1165922415 CA386125394 |
502 | E>K | No |
ClinGen TOPMed |
|
|
rs778363817 CA6715451 |
503 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386125366 rs1370619441 |
506 | I>V | No |
ClinGen TOPMed |
|
|
rs755693120 CA386125353 |
508 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755693120 CA6715450 |
508 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386125337 rs1370765169 |
510 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386125324 rs1431971422 |
512 | S>Y | No |
ClinGen gnomAD |
|
|
rs369402766 CA6715448 |
513 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386125273 rs1170288362 |
520 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 523 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386125244 rs1361194914 |
524 | Y>F | No |
ClinGen TOPMed |
|
|
CA6715447 rs754639801 |
528 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386125193 rs1250773785 |
530 | P>Q | No |
ClinGen Ensembl |
|
|
rs1204707077 CA386125196 |
530 | P>T | No |
ClinGen TOPMed |
|
|
rs1249638195 CA386125157 |
535 | G>D | No |
ClinGen gnomAD |
|
|
CA386125159 rs1471490820 |
535 | G>S | No |
ClinGen gnomAD |
|
|
CA6715430 rs768262746 |
539 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6715429 rs746659681 |
539 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs368317255 CA6715427 |
541 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 542 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA241606950 rs756575517 |
547 | C>Y | No |
ClinGen Ensembl |
|
|
CA386125068 rs1226258789 |
548 | A>V | No |
ClinGen gnomAD |
|
|
CA386125053 rs1306801998 |
551 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199582675 CA6715421 |
558 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1292245404 CA386125004 |
558 | R>W | No |
ClinGen gnomAD |
|
|
CA386124996 rs1389384326 |
559 | D>V | No |
ClinGen gnomAD |
|
|
CA241606949 rs894063126 |
562 | D>G | No |
ClinGen gnomAD |
|
|
CA6715420 rs751807755 |
565 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351049483 CA386124937 |
567 | I>M | No |
ClinGen gnomAD |
|
|
rs766672297 CA6715419 |
567 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763438471 CA6715418 |
571 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386124910 rs1265196165 |
571 | A>V | No |
ClinGen gnomAD |
|
|
CA6715417 rs372875713 |
573 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592760357 CA386124893 |
574 | K>R | No |
ClinGen Ensembl |
|
|
rs147894669 CA6715416 |
579 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 591 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386124771 rs1206263912 |
592 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1206263912 CA386124770 |
592 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759330414 CA6715415 |
595 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386124734 COSM3813174 rs1314253150 |
597 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| VAR_087438 | 598 | I>T | found in a patient with developmental delay; unknown pathological significance; no effect on calcium ion export across plasma membrane [UniProt] | No | UniProt |
|
rs1440908849 CA386124687 |
604 | S>P | No |
ClinGen gnomAD |
|
|
rs746439522 CA6715412 |
607 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1204870349 CA386124656 |
609 | K>E | No |
ClinGen TOPMed |
|
|
CA241606647 rs1014658407 |
616 | S>T | No |
ClinGen TOPMed |
|
|
CA386124580 rs1190517429 |
617 | A>D | No |
ClinGen TOPMed |
|
|
rs1465525182 CA386124583 |
617 | A>S | No |
ClinGen TOPMed |
|
|
CA386124541 rs1592751643 |
623 | V>I | No |
ClinGen Ensembl |
|
|
rs1391976742 CA386124516 |
626 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 627 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166579855 CA386124507 |
628 | D>N | No |
ClinGen gnomAD |
|
|
rs1188141026 CA386124495 |
629 | R>H | No |
ClinGen TOPMed |
|
|
CA386124473 rs1474798813 |
632 | I>T | No |
ClinGen gnomAD |
|
|
rs1370165891 CA386124466 |
633 | V>A | No |
ClinGen TOPMed |
|
|
CA241606646 rs1027306120 |
635 | T>N | No |
ClinGen Ensembl |
|
|
CA6715394 rs768994640 |
643 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1158226294 CA386124347 |
651 | A>T | No |
ClinGen TOPMed |
|
|
rs1277401654 CA386124332 |
653 | R>T | No |
ClinGen gnomAD |
|
|
rs1592751465 CA386124313 |
655 | F>L | No |
ClinGen Ensembl |
|
|
CA386124257 rs1339285834 |
664 | W>R | No |
ClinGen gnomAD |
|
|
CA6715390 rs745503429 |
665 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715389 rs370374433 |
670 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778921016 CA241606644 |
671 | V>G | No |
ClinGen Ensembl |
|
|
CA6715387 rs748992842 |
673 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6715385 rs755985276 |
676 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA6715383 rs780281004 |
686 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA6715382 rs145288143 |
688 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386124090 rs1226881424 |
689 | E>Q | No |
ClinGen TOPMed |
|
|
CA386124067 rs1592735940 |
690 | V>G | No |
ClinGen Ensembl |
|
|
CA386124059 rs1209413016 |
692 | D>N | No |
ClinGen gnomAD |
|
|
CA386124040 rs1282362940 |
694 | I>M | No |
ClinGen gnomAD |
|
|
CA386124042 rs1331541064 |
694 | I>T | No |
ClinGen gnomAD |
|
|
rs1032753583 CA241606093 |
695 | K>R | No |
ClinGen TOPMed |
|
|
CA6715361 rs182212584 |
699 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386123998 rs1444521464 |
700 | A>G | No |
ClinGen TOPMed |
|
|
CA386124000 rs1384944375 |
700 | A>S | No |
ClinGen TOPMed |
|
|
rs779326450 CA6715359 |
705 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386123966 rs1320685222 |
706 | M>V | No |
ClinGen gnomAD |
|
|
rs1343098249 CA386123928 |
711 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715357 rs754295047 |
716 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386123861 rs1336185549 |
721 | K>N | No |
ClinGen TOPMed |
|
|
CA241606091 rs972105631 |
722 | C>S | No |
ClinGen gnomAD |
|
|
rs1426400529 CA386123850 |
723 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 729 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193032111 CA386123716 |
742 | R>K | No |
ClinGen gnomAD |
|
|
rs1443200907 CA386123708 |
743 | I>K | No |
ClinGen gnomAD |
|
|
rs902976276 CA241606089 |
744 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1184059 rs868200483 CA241606088 |
744 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386123695 rs1347094325 |
745 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1298179716 CA386123693 |
746 | E>K | No |
ClinGen gnomAD |
|
|
rs1291007805 CA386123650 |
750 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 756 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715337 rs749482129 |
756 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386123590 rs1409934638 |
758 | I>V | No |
ClinGen TOPMed |
|
|
CA386123572 rs1329936392 |
760 | P>L | No |
ClinGen TOPMed |
|
|
rs1309005004 CA386123555 |
763 | R>G | No |
ClinGen gnomAD |
|
|
CA6715336 rs777980997 |
763 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6715334 rs753007655 |
771 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 775 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715333 VAR_087440 rs781703158 |
779 | G>S | no effect on calcium ion export across plasma membrane [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1179850039 CA386123429 |
781 | I>V | No |
ClinGen TOPMed |
|
|
rs369223861 CA6715319 |
784 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148462691 CA241605981 |
786 | S>L | No |
ClinGen ESP |
|
|
CA386123385 rs1565814167 |
787 | D>E | No |
ClinGen Ensembl |
|
|
CA6715317 rs376575805 COSM1364764 |
789 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1179897204 CA386123365 |
790 | Q>P | No |
ClinGen gnomAD |
|
|
CA241605980 rs543726861 |
799 | T>I | No |
ClinGen 1000Genomes |
|
|
CA241605979 rs887969575 |
806 | K>R | No |
ClinGen Ensembl |
|
|
CA386123245 rs1212486249 |
809 | D>H | No |
ClinGen gnomAD |
|
|
CA6715313 rs752023625 |
810 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 813 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386123212 rs1269569748 |
814 | M>V | No |
ClinGen gnomAD |
|
|
rs1303243195 CA386005180 |
817 | A>T | No |
ClinGen gnomAD |
|
|
CA386004285 rs1565806870 |
827 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA241194600 rs940755100 |
838 | I>V | No |
ClinGen Ensembl |
|
|
CA6715282 rs556639199 |
843 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 845 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA241194569 rs972318390 |
846 | R>Q | No |
ClinGen TOPMed |
|
|
CA386003893 rs1351558574 |
848 | V>I | No |
ClinGen Ensembl |
|
|
rs1427603330 CA386003865 |
849 | Y>C | No |
ClinGen gnomAD |
|
|
rs773226186 CA6715280 |
851 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1486825281 CA386003717 |
857 | Q>H | No |
ClinGen gnomAD |
|
|
CA6715279 rs765317673 |
858 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6715276 rs768818006 |
867 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326093863 CA386003573 |
870 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370217155 CA241194550 |
872 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386003543 rs1457923519 |
873 | G>S | No |
ClinGen TOPMed |
|
|
CA386003505 rs570457928 |
874 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1364762 rs570457928 CA241194513 |
874 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386003475 rs1250561500 |
876 | I>T | No |
ClinGen TOPMed |
|
|
rs1033577592 CA241194507 |
878 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 878 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs981078556 CA241194494 |
878 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 884 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 894 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775515683 CA6715256 |
896 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 901 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253762634 CA386003143 |
904 | T>K | No |
ClinGen gnomAD |
|
|
CA386003130 rs1592716922 |
905 | E>D | No |
ClinGen Ensembl |
|
|
rs1215606395 CA386003138 |
905 | E>K | No |
ClinGen gnomAD |
|
|
rs1467337925 CA386003122 |
906 | P>Q | No |
ClinGen gnomAD |
|
|
CA386003109 rs1224142605 |
907 | P>L | No |
ClinGen gnomAD |
|
|
rs1272731997 CA386003114 |
907 | P>S | No |
ClinGen gnomAD |
|
|
rs1238317561 CA386003081 |
910 | S>T | No |
ClinGen gnomAD |
|
|
rs1188553648 CA386003075 |
910 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 911 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036924349 CA241194227 |
916 | P>L | No |
ClinGen TOPMed |
|
|
CA6715252 rs771538557 |
917 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA241194208 rs940976725 |
919 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 920 | N>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748844196 COSM3376400 CA6715251 |
924 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1263314141 CA386002915 |
926 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 927 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970617542 CA241194188 |
929 | M>I | No |
ClinGen TOPMed |
|
|
CA6715250 rs777415102 |
931 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1320726586 CA386002851 |
931 | N>K | No |
ClinGen gnomAD |
|
|
CA6715249 rs769393317 |
933 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA386002831 rs769393317 |
933 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs754837933 CA6715246 |
948 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754837933 CA386002675 |
948 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467150624 CA386002651 |
950 | G>R | No |
ClinGen gnomAD |
|
|
CA386002579 rs1419679757 |
952 | K>N | No |
ClinGen TOPMed |
|
|
CA6715230 rs780919995 |
952 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189003061 CA6715229 |
954 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6715228 rs746847972 |
956 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA386002479 rs1592715456 |
961 | N>H | No |
ClinGen Ensembl |
|
|
CA386002475 rs1592715444 |
961 | N>S | No |
ClinGen Ensembl |
|
|
rs779822283 CA6715227 |
962 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750364043 CA6715225 |
966 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6715224 rs778675473 |
967 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386002405 rs1215777169 |
968 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 973 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399789867 CA386002300 |
974 | I>F | No |
ClinGen gnomAD |
|
|
rs752693675 CA6715222 |
975 | V>I | No |
ClinGen ExAC |
|
|
CA241193778 rs370810713 |
980 | V>L | No |
ClinGen ESP TOPMed |
|
|
rs1352868810 CA386002029 COSM3772747 |
991 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 992 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715220 rs377272508 |
993 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241193747 rs1015391143 |
1000 | F>I | No |
ClinGen TOPMed |
|
|
CA241193733 rs1005058350 |
1001 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1186211942 CA386001833 |
1003 | I>M | No |
ClinGen gnomAD |
|
|
rs1446156551 CA386001788 |
1006 | N>S | No |
ClinGen TOPMed |
|
|
rs1475648484 CA386001780 |
1007 | A>T | No |
ClinGen gnomAD |
|
|
rs752025186 CA6715219 |
1007 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439586982 CA386001687 |
1012 | I>T | No |
ClinGen TOPMed |
|
|
CA241193721 rs200891261 |
1013 | V>A | No |
ClinGen Ensembl |
|
|
CA241193693 rs1001630869 |
1019 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386001463 rs1288140759 |
1021 | I>M | No |
ClinGen TOPMed |
|
|
rs1178949170 CA386001470 |
1021 | I>V | No |
ClinGen gnomAD |
|
|
rs1018899788 CA241192458 |
1026 | F>C | No |
ClinGen Ensembl |
|
|
rs781117632 CA6715201 |
1029 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386001365 rs1383599527 |
1029 | K>R | No |
ClinGen TOPMed |
|
|
CA386001267 rs1469562621 |
1036 | L>F | No |
ClinGen gnomAD |
|
|
CA6715199 rs766670116 |
1038 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6715197 rs758857340 |
1038 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766670116 COSM3772743 CA6715198 |
1038 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA386001184 rs1381339989 |
1043 | W>C | No |
ClinGen TOPMed |
|
|
CA6715194 rs79015625 |
1045 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752167578 CA6715170 |
1057 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs556520609 CA6715169 |
1060 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6715168 rs759097062 |
1061 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386000220 rs1386476208 |
1063 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753026592 CA241190689 |
1065 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs773996677 CA6715167 |
1065 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241190662 rs1041616775 |
1080 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA385999979 rs1490585010 |
1083 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1086 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385999925 rs1358799271 |
1088 | E>D | No |
ClinGen TOPMed |
|
|
rs945731279 CA241190645 |
1088 | E>Q | No |
ClinGen gnomAD |
|
|
rs773305924 CA6715164 |
1090 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1092 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1092 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1140300 CA385999887 rs1465462304 |
1094 | D>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 1095 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6715162 rs747129280 |
1095 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6715159 COSM1364756 rs746094247 |
1101 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372936177 CA6715158 |
1102 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241190578 rs865869268 |
1103 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 1113 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385998269 rs1387781828 |
1119 | R>L | No |
ClinGen gnomAD |
|
|
CA385998275 rs1387781828 |
1119 | R>Q | No |
ClinGen gnomAD |
|
|
rs1419616195 CA385998246 |
1120 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1127 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1130 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764946874 | 1135 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1142 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1161 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752708878 | 1175 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1199 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P20020
10 regional properties for P20020
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 536 - 606 | IPR001452 |
| domain | PDZ domain | 98 - 185 | IPR001478-1 |
| domain | PDZ domain | 191 - 280 | IPR001478-2 |
| domain | PDZ domain | 419 - 502 | IPR001478-3 |
| domain | Guanylate kinase-like domain | 662 - 837 | IPR008144 |
| domain | Guanylate kinase/L-type calcium channel beta subunit | 661 - 840 | IPR008145 |
| domain | Disks large homolog 1-4, PDZ-associated domain | 278 - 345 | IPR019583 |
| domain | Disks large homologue 1, N-terminal PEST domain | 14 - 97 | IPR019590 |
| conserved_site | Guanylate kinase, conserved site | 694 - 711 | IPR020590 |
| domain | Disks Large homologue 2, SH3 domain | 534 - 607 | IPR035759 |
Functions
| Description | ||
|---|---|---|
| EC Number | 7.2.2.10 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| photoreceptor ribbon synapse | A ribbon synapse between a retinal photoreceptor cell (rod or cone) and a retinal bipolar cell. These contain a plate-like synaptic ribbon. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| calcium ion transmembrane transporter activity | Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| metal ion binding | Binding to a metal ion. |
| molecular function inhibitor activity | A molecular function regulator that inhibits or decreases the activity of its target via non-covalent binding that does not result in covalent modification to the target. |
| P-type calcium transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion export across plasma membrane | The directed movement of calcium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
| monoatomic ion transmembrane transport | A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. |
| negative regulation of cytokine production | Any process that stops, prevents, or reduces the rate of production of a cytokine. |
| negative regulation of cytosolic calcium ion concentration | Any process that decreases the concentration of calcium ions in the cytosol. |
| positive regulation of bone mineralization | Any process that activates or increases the frequency, rate or extent of bone mineralization. |
| positive regulation of calcium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| regulation of cardiac conduction | Any process that modulates the frequency, rate or extent of cardiac conduction. |
| regulation of cellular response to insulin stimulus | Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus. |
| regulation of cytosolic calcium ion concentration | Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
| regulation of vascular associated smooth muscle contraction | Any process that increases the frequency, rate or extent of vascular smooth muscle contraction. |
31 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38929 | PMC1 | Calcium-transporting ATPase 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| D3K0R6 | ATP2B4 | Plasma membrane calcium-transporting ATPase 4 | Bos taurus (Bovine) | SS |
| P23634 | ATP2B4 | Plasma membrane calcium-transporting ATPase 4 | Homo sapiens (Human) | EV |
| Q01814 | ATP2B2 | Plasma membrane calcium-transporting ATPase 2 | Homo sapiens (Human) | SS |
| Q16720 | ATP2B3 | Plasma membrane calcium-transporting ATPase 3 | Homo sapiens (Human) | EV |
| Q6Q477 | Atp2b4 | Plasma membrane calcium-transporting ATPase 4 | Mus musculus (Mouse) | SS |
| Q9R0K7 | Atp2b2 | Plasma membrane calcium-transporting ATPase 2 | Mus musculus (Mouse) | SS |
| G5E829 | Atp2b1 | Plasma membrane calcium-transporting ATPase 1 | Mus musculus (Mouse) | SS |
| P23220 | ATP2B1 | Plasma membrane calcium-transporting ATPase 1 | Sus scrofa (Pig) | SS |
| Q64542 | Atp2b4 | Plasma membrane calcium-transporting ATPase 4 | Rattus norvegicus (Rat) | SS |
| Q64568 | Atp2b3 | Plasma membrane calcium-transporting ATPase 3 | Rattus norvegicus (Rat) | SS |
| P11506 | Atp2b2 | Plasma membrane calcium-transporting ATPase 2 | Rattus norvegicus (Rat) | SS |
| P11505 | Atp2b1 | Plasma membrane calcium-transporting ATPase 1 | Rattus norvegicus (Rat) | SS |
| Q8RUN1 | ACA1 | Calcium-transporting ATPase 1, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q2QY12 | ACA9 | Probable calcium-transporting ATPase 9, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q6ATV4 | ACA3 | Calcium-transporting ATPase 3, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q2QMX9 | ACA10 | Calcium-transporting ATPase 10, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q7XEK4 | ACA7 | Calcium-transporting ATPase 7, plasma membrane-type | Oryza sativa subsp japonica (Rice) | EV |
| Q7X8B5 | ACA5 | Calcium-transporting ATPase 5, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q2RAS0 | ACA8 | Probable calcium-transporting ATPase 8, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q65X71 | ACA6 | Probable calcium-transporting ATPase 6, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| O22218 | ACA4 | Calcium-transporting ATPase 4, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9M2L4 | ACA11 | Putative calcium-transporting ATPase 11, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O64806 | ACA7 | Putative calcium-transporting ATPase 7, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O81108 | ACA2 | Calcium-transporting ATPase 2, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | EV |
| Q9LY77 | ACA12 | Calcium-transporting ATPase 12, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LIK7 | ACA13 | Putative calcium-transporting ATPase 13, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LU41 | ACA9 | Calcium-transporting ATPase 9, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LF79 | ACA8 | Calcium-transporting ATPase 8, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | EV |
| Q9SZR1 | ACA10 | Calcium-transporting ATPase 10, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q37145 | ACA1 | Calcium-transporting ATPase 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDMANNSVA | YSGVKNSLKE | ANHDGDFGIT | LAELRALMEL | RSTDALRKIQ | ESYGDVYGIC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TKLKTSPNEG | LSGNPADLER | REAVFGKNFI | PPKKPKTFLQ | LVWEALQDVT | LIILEIAAIV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLGLSFYQPP | EGDNALCGEV | SVGEEEGEGE | TGWIEGAAIL | LSVVCVVLVT | AFNDWSKEKQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FRGLQSRIEQ | EQKFTVIRGG | QVIQIPVADI | TVGDIAQVKY | GDLLPADGIL | IQGNDLKIDE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSLTGESDHV | KKSLDKDPLL | LSGTHVMEGS | GRMVVTAVGV | NSQTGIIFTL | LGAGGEEEEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KDEKKKEKKN | KKQDGAIENR | NKAKAQDGAA | MEMQPLKSEE | GGDGDEKDKK | KANLPKKEKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLQGKLTKLA | VQIGKAGLLM | SAITVIILVL | YFVIDTFWVQ | KRPWLAECTP | IYIQYFVKFF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IIGVTVLVVA | VPEGLPLAVT | ISLAYSVKKM | MKDNNLVRHL | DACETMGNAT | AICSDKTGTL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TMNRMTVVQA | YINEKHYKKV | PEPEAIPPNI | LSYLVTGISV | NCAYTSKILP | PEKEGGLPRH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VGNKTECALL | GLLLDLKRDY | QDVRNEIPEE | ALYKVYTFNS | VRKSMSTVLK | NSDGSYRIFS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KGASEIILKK | CFKILSANGE | AKVFRPRDRD | DIVKTVIEPM | ASEGLRTICL | AFRDFPAGEP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EPEWDNENDI | VTGLTCIAVV | GIEDPVRPEV | PDAIKKCQRA | GITVRMVTGD | NINTARAIAT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KCGILHPGED | FLCLEGKDFN | RRIRNEKGEI | EQERIDKIWP | KLRVLARSSP | TDKHTLVKGI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IDSTVSDQRQ | VVAVTGDGTN | DGPALKKADV | GFAMGIAGTD | VAKEASDIIL | TDDNFTSIVK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AVMWGRNVYD | SISKFLQFQL | TVNVVAVIVA | FTGACITQDS | PLKAVQMLWV | NLIMDTLASL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ALATEPPTES | LLLRKPYGRN | KPLISRTMMK | NILGHAFYQL | VVVFTLLFAG | EKFFDIDSGR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| NAPLHAPPSE | HYTIVFNTFV | LMQLFNEINA | RKIHGERNVF | EGIFNNAIFC | TIVLGTFVVQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| IIIVQFGGKP | FSCSELSIEQ | WLWSIFLGMG | TLLWGQLIST | IPTSRLKFLK | EAGHGTQKEE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| IPEEELAEDV | EEIDHAEREL | RRGQILWFRG | LNRIQTQIRV | VNAFRSSLYE | GLEKPESRSS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| IHNFMTHPEF | RIEDSEPHIP | LIDDTDAEDD | APTKRNSSPP | PSPNKNNNAV | DSGIHLTIEM |
| 1210 | |||||
| NKSATSSSPG | SPLHSLETSL |