Q96SD1
PR
Gene name |
DCLRE1C |
Protein name |
Protein artemis |
Names |
DNA cross-link repair 1C protein, Protein A-SCID, SNM1 homolog C, hSNM1C, SNM1-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64421 |
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
15 structures for Q96SD1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3W1B | X-ray | 240 A | B | 485-495 | PDB |
| 3W1G | X-ray | 255 A | B | 485-495 | PDB |
| 4HTP | X-ray | 225 A | C/E | 485-495 | PDB |
| 6TT5 | X-ray | 150 A | AAA | 1-361 | PDB |
| 6WNL | X-ray | 237 A | A/B | 2-368 | PDB |
| 6WO0 | X-ray | 197 A | A | 2-368 | PDB |
| 7ABS | X-ray | 197 A | A | 2-368 | PDB |
| 7AF1 | X-ray | 170 A | A | 1-361 | PDB |
| 7AFS | X-ray | 170 A | A | 1-361 | PDB |
| 7AFU | X-ray | 156 A | A | 1-361 | PDB |
| 7AGI | X-ray | 170 A | A | 1-361 | PDB |
| 7APV | X-ray | 195 A | A | 1-361 | PDB |
| 7SGL | EM | 300 A | D | 1-692 | PDB |
| 7TYR | EM | 333 A | C | 1-692 | PDB |
| AF-Q96SD1-F1 | Predicted | AlphaFoldDB |
277 variants for Q96SD1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs121908158 RCV000004941 |
1 | M>T | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001836105 CA5417048 rs749686038 RCV001067034 |
5 | E>Q | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1842835241 RCV001834004 RCV001231270 |
9 | A>T | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752159513 CA5417042 RCV001825649 RCV000818718 |
14 | I>S | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752159513 RCV001338141 |
14 | I>T | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314842 rs1842831150 |
17 | D>G | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043183 rs1842830903 |
18 | R>H | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1842826599 RCV001345157 |
33 | H>Y | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000004938 rs121908159 CA117007 VAR_023077 RCV001388406 |
35 | H>D | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency Omenn syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000644807 rs138077101 RCV000261164 RCV001272394 CA5416981 RCV002520545 |
57 | V>F | Severe combined immunodeficiency, athabascan-type Inborn genetic diseases Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1589136760 RCV000802746 CA376063513 |
61 | C>R | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10586373 RCV000240844 rs886037925 |
65 | T>I | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA376063361 RCV000988332 rs1589136659 |
69 | L>* | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753202682 RCV001310563 RCV001063840 RCV001833624 |
70 | L>missing | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477429 RCV000644800 RCV001835040 CA5416976 rs147013097 |
71 | T>M | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs41296438 CA5416971 RCV001833523 RCV000530940 RCV001720000 RCV001102651 |
76 | R>T | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000762806 RCV000004929 rs121908156 CA117001 RCV001272780 RCV000224235 |
81 | R>* | Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746658739 RCV002538099 RCV000811486 RCV001830773 CA376062485 |
83 | I>L | Inborn genetic diseases Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002535692 RCV000781322 CA5416940 RCV001825533 rs747849702 |
84 | S>C | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001835190 RCV001726465 RCV001243925 rs756366535 RCV002491815 CA5416935 |
89 | T>A | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001102650 RCV002554997 CA5416932 rs762266339 |
94 | S>Y | Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
TCGA novel rs1477434785 RCV001051137 |
105 | E>D | Severe combined immunodeficiency due to DCLRE1C deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
RCV001314843 rs772530008 |
107 | V>I | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002552570 rs1443020418 RCV001044931 |
114 | G>S | Inborn genetic diseases Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117435 RCV000625931 RCV001829748 rs757316102 RCV000705078 |
117 | P>L | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057519 rs1839957089 |
118 | G>* | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_023078 | 118 | G>V | RSSCID [UniProt] | Yes | UniProt |
|
rs1839771032 RCV001327673 |
121 | M>I | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223881 rs1839954868 |
121 | M>L | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_023079 | 135 | G>E | RSSCID [UniProt] | Yes | UniProt |
|
rs1839765652 RCV001349774 RCV001835359 RCV001267665 |
136 | D>N | Severe combined immunodeficiency disease Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs41297016 RCV000487367 RCV001272393 RCV000543418 VAR_060689 |
140 | A>V | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs143949881 RCV001272778 RCV000802709 |
141 | Q>H | Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1589070600 RCV000822442 |
151 | H>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560374 VAR_060690 RCV003224106 RCV000224125 RCV000455778 RCV001272391 rs41297018 |
153 | G>R | Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
RCV001107882 rs41297018 RCV002556111 |
153 | G>W | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1404214090 RCV001205821 |
154 | G>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1839624547 RCV001312329 |
157 | K>T | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057029 rs1839622622 |
161 | S>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001833708 RCV001319886 RCV001107881 rs754602932 |
162 | V>I | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1279014555 RCV000824544 |
164 | L>V | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1589064324 RCV000803903 |
167 | T>ML | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35441642 RCV000988331 RCV002496450 VAR_048892 RCV000244893 RCV001650846 RCV000305875 RCV000029657 |
171 | P>R | Severe combined immunodeficiency disease Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
RCV000814078 rs1340132582 |
174 | Y>* | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001834788 RCV000530742 rs150854849 |
179 | R>Q | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1839576830 RCV001346409 |
180 | E>V | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000401504 RCV001248679 rs373675907 |
184 | S>C | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1336396486 RCV001830349 RCV001322889 |
185 | G>E | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001272390 RCV000973998 rs141448396 |
186 | V>L | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801540 rs1468919857 |
188 | E>D | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs528699445 RCV001828716 RCV001215552 |
191 | R>Q | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002534677 RCV001830723 RCV000801316 rs760897653 |
196 | R>Q | Severe combined immunodeficiency, athabascan-type Inborn genetic diseases Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766699328 RCV000699037 RCV001830540 |
196 | R>W | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002537308 rs1252776122 RCV001825613 RCV000809196 |
197 | S>G | Inborn genetic diseases Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247262 rs773799685 RCV001835293 RCV002564119 |
197 | S>N | Inborn genetic diseases Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835158 RCV001243188 rs772391197 RCV002564056 |
198 | P>L | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703249 RCV000004937 RCV000256066 rs121908157 |
199 | Y>* | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068278 rs1839558393 |
210 | Y>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224711 rs1056674146 |
211 | G>A | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001277658 rs1839556682 |
212 | Y>N | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702312 rs756395955 RCV001830550 |
229 | V>A | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001337759 rs1163772028 |
233 | D>E | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_048893 RCV001510060 RCV001723845 RCV000307635 rs12768894 RCV000253217 |
243 | H>R | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs374596045 RCV000394182 RCV000520038 RCV000805877 |
246 | T>I | Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312291 rs374838779 RCV001830262 RCV002543593 |
249 | R>H | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000824500 rs1589050343 |
252 | Q>* | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1249898599 RCV001277657 |
252 | Q>H | Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1839258333 RCV001205993 |
256 | C>Y | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1839255605 RCV001248486 |
260 | K>R | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828296 RCV000289880 RCV001248351 rs748507317 |
267 | W>R | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1838331843 RCV001208923 |
268 | S>N | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1589019320 RCV000821065 |
290 | S>C | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805969 RCV001825597 rs748516669 |
302 | N>T | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224665 rs1838087325 |
309 | E>Q | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000779021 rs1564414831 |
310 | S>missing | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043896 rs1838083133 |
314 | A>V | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000124664 RCV000348357 RCV001083680 rs41298896 RCV001831916 VAR_048894 |
320 | S>C | Histiocytic medullary reticulosis Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs780156393 RCV001215324 |
323 | S>C | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212228 rs1838077116 |
324 | E>G | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs41299658 RCV000560174 VAR_060691 RCV003155155 RCV001833429 RCV002494927 RCV000295727 RCV001555221 |
329 | L>M | Histiocytic medullary reticulosis Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
RCV001240741 RCV001836207 rs759789901 |
342 | I>V | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243655 rs769742765 RCV001829039 |
344 | V>A | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146859738 RCV001833955 RCV001226326 |
350 | K>E | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1837362613 RCV001308918 |
353 | E>G | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001832534 RCV001059498 rs541855040 |
353 | E>K | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1836805445 RCV001313323 |
356 | K>T | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377694988 RCV002537759 RCV001277655 |
360 | R>Q | Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs748164114 RCV001835941 RCV001207296 RCV000729121 |
360 | R>W | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1836798077 RCV001051499 |
369 | Y>C | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1379146832 RCV001277654 |
389 | D>Y | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759039414 RCV001833631 RCV001064697 |
399 | I>V | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001104470 rs1834845817 |
414 | E>G | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699072 rs770043960 RCV001835925 |
421 | V>I | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1354336544 RCV001232221 |
422 | S>* | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs113870881 RCV000376842 RCV000539574 RCV001082962 |
428 | K>N | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001526429 rs1459486949 RCV000597182 |
430 | R>G | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs921819288 RCV000803231 RCV001830735 |
435 | C>R | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753674918 RCV001223880 |
439 | E>* | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774273800 RCV000174696 RCV002516641 |
445 | R>C | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000877373 rs376186052 RCV001275799 |
445 | R>H | Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769948633 RCV000817469 |
448 | N>K | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644797 RCV001826416 rs786200884 RCV000004939 |
451 | D>missing | Severe combined immunodeficiency, partial Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001104469 RCV001240077 rs746552030 RCV001828552 |
461 | E>K | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001085101 RCV000493151 rs373709012 |
462 | E>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528070 rs115250914 RCV001563935 RCV002476172 |
462 | E>V | Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301285 RCV001830181 rs1564366143 |
463 | V>A | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830261 rs750104684 RCV001312287 |
470 | Q>K | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588894157 RCV000815615 |
476 | V>A | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1834801118 RCV001054033 |
482 | A>D | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059183 rs372597855 |
498 | E>* | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048564 rs372597855 RCV001275798 |
498 | E>K | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061769 TCGA novel rs1834786005 |
511 | T>K | Variant assessed as Somatic; impact. Severe combined immunodeficiency due to DCLRE1C deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001247789 RCV001825513 rs542791233 RCV003166029 RCV000767949 |
519 | P>L | Severe combined immunodeficiency due to DCLRE1C deficiency Inborn genetic diseases Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207215 rs1482857000 |
522 | F>S | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309252 rs1331013284 |
539 | Q>R | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001277653 RCV002480821 RCV001244048 rs777250271 |
543 | I>V | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588892650 RCV000801131 |
545 | E>Q | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791691 rs1588892551 |
550 | G>R | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240842 rs886037924 |
557 | T>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001365054 RCV001828295 RCV000322559 rs750692726 |
557 | T>I | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000265053 rs767573884 RCV001236827 RCV001828294 |
564 | E>D | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000988330 rs1588892169 |
564 | E>G | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830791 RCV003224477 RCV000817073 rs769187936 |
570 | I>S | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001337787 rs775927361 |
571 | T>A | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027780 RCV000644798 rs778823769 |
578 | Y>C | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046602 rs749263367 RCV001827290 |
579 | R>S | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041365 rs780103215 RCV002516232 RCV000224754 RCV001272773 |
580 | P>L | Inborn genetic diseases Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1368413064 RCV001048676 RCV001832456 |
583 | K>Q | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294495 rs751968783 |
591 | M>V | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827293 rs1270446904 RCV001046708 |
595 | V>I | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215938 RCV001836159 rs759377639 |
597 | C>missing | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760292491 RCV000644799 |
599 | K>E | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001102547 rs1834728922 |
601 | T>I | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001277652 rs1834723718 |
606 | K>Q | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001277651 RCV002542878 rs575678692 |
610 | K>E | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816548 rs751811224 |
612 | V>M | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001241587 rs759929745 RCV001835107 RCV002261321 |
622 | T>I | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827378 RCV001060140 rs1328876117 |
623 | T>A | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588890065 RCV000814124 |
627 | E>K | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052915 rs768407082 |
629 | H>Y | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000734288 RCV001540740 RCV000946402 rs61757205 |
632 | E>K | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233987 rs1834703886 |
633 | E>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs533771936 RCV001563938 RCV000797682 RCV001275796 |
633 | E>G | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002222547 RCV000553998 RCV000779020 RCV001835851 RCV001507776 rs760288938 RCV001280949 RCV000530013 |
635 | S>missing | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805093 RCV001825594 rs1051813612 |
635 | S>C | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244973 RCV001829943 RCV002227257 rs144641461 |
651 | F>S | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1834692330 RCV001299437 |
655 | S>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294939 RCV001507775 rs775156782 |
655 | S>L | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762670101 RCV001835404 RCV001297017 |
655 | S>P | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814634 rs141357439 RCV001272772 |
656 | T>I | Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542454 rs1554773491 |
662 | P>L | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001241274 RCV002499401 rs200693133 RCV001828972 |
664 | R>* | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779159378 RCV002537327 RCV001272771 RCV000810272 |
664 | R>Q | Inborn genetic diseases Histiocytic medullary reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044896 RCV001827278 rs1834683814 |
666 | H>D | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809858 rs1409082603 RCV001825617 |
668 | Q>* | Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, athabascan-type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564361862 RCV000693152 RCV001830514 |
670 | L>* | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754829084 RCV000704885 RCV001835930 |
677 | G>S | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140602902 RCV000703216 |
680 | I>T | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351045 rs1834673766 |
681 | A>V | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001829901 rs1033877372 RCV000687745 |
682 | V>D | Severe combined immunodeficiency, athabascan-type Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211587 rs915913541 |
685 | R>missing | Severe combined immunodeficiency due to DCLRE1C deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA376066210 rs1246849001 |
4 | F>V | No |
ClinGen gnomAD |
|
|
rs1208529908 CA376066150 |
7 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1373318101 CA376066147 |
7 | Q>P | No |
ClinGen TOPMed |
|
|
CA376066024 rs1217747643 |
12 | P>L | No |
ClinGen gnomAD |
|
|
rs757865212 CA5417043 |
14 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759129037 CA5417040 |
16 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317003987 CA376065954 |
16 | I>T | No |
ClinGen TOPMed |
|
|
rs759129037 CA376065960 |
16 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 17 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3790650 CA5417039 COSM3790651 rs753690114 |
20 | D>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468832750 CA376065821 |
22 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 24 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198932567 CA376065774 |
25 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1425360160 CA376065740 |
27 | R>C | No |
ClinGen gnomAD |
|
|
rs773046452 CA376065726 |
28 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773046452 CA5417036 |
28 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376065728 rs773046452 |
28 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246845265 CA376065657 |
31 | L>P | No |
ClinGen gnomAD |
|
|
CA376065642 rs969498121 |
32 | S>C | No |
ClinGen gnomAD |
|
|
rs969498121 CA203404964 |
32 | S>F | No |
ClinGen gnomAD |
|
|
CA5417034 rs761990097 |
36 | K>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 37 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379683634 CA376064527 |
42 | L>I | No |
ClinGen gnomAD |
|
|
CA376064509 rs1304352981 |
43 | R>G | No |
ClinGen gnomAD |
|
|
rs770015010 CA5417011 |
44 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376064490 rs1369496273 |
45 | P>L | No |
ClinGen gnomAD |
|
|
rs1036466565 CA203402147 |
45 | P>S | No |
ClinGen Ensembl |
|
|
rs1168701627 CA376064484 |
46 | T>I | No |
ClinGen gnomAD |
|
|
rs746220817 CA5417010 |
50 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746220817 CA376064459 |
50 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423733479 CA376064437 |
52 | E>G | No |
ClinGen gnomAD |
|
|
rs771483785 CA376064413 |
53 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA376064423 rs1415064790 |
53 | C>R | No |
ClinGen gnomAD |
|
|
CA5417008 rs771483785 |
53 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA5417007 rs747508395 |
54 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755792300 CA376063609 |
54 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376063590 rs1300011908 |
56 | K>N | No |
ClinGen gnomAD |
|
|
rs376458560 CA203399906 |
66 | K>E | No |
ClinGen Ensembl |
|
| rs753202682 | 70 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376063330 rs1437892966 |
71 | T>P | No |
ClinGen TOPMed |
|
|
CA376063320 rs147013097 |
71 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376063310 rs1236339756 |
72 | S>N | No |
ClinGen gnomAD |
|
|
rs758294915 CA5416975 |
73 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179058497 CA376063273 |
74 | K>R | No |
ClinGen TOPMed |
|
|
rs766539703 CA5416970 |
77 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA376063196 rs1206618479 |
79 | K>E | No |
ClinGen gnomAD |
|
|
rs1469742135 CA376063160 |
80 | K>T | No |
ClinGen TOPMed |
|
|
rs772627259 COSM1603252 COSM3665623 CA5416968 |
81 | R>Q | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748686886 CA5416967 |
82 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA376062475 rs1232287475 |
83 | I>M | No |
ClinGen TOPMed |
|
|
CA5416942 rs777753699 |
83 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5416943 rs746658739 |
83 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375336429 CA376062472 |
84 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376062461 rs747849702 |
84 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5416941 rs375336429 |
84 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5416939 rs778941716 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780101922 CA5416936 |
88 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5416937 rs753976764 |
88 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA203397661 rs371162898 |
91 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5416933 rs767583757 |
93 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1564456412 CA376062286 |
95 | L>S | No |
ClinGen Ensembl |
|
|
CA5416931 rs751800247 |
96 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA376062251 rs1409411951 |
97 | D>G | No |
ClinGen gnomAD |
|
|
CA5416862 rs763746094 |
124 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376060283 rs150951839 |
125 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs786205456 RCV000171174 |
135 | G>R | No |
ClinVar dbSNP |
|
| rs1194135971 | 148 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1404214090 | 154 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs149556109 | 167 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 172 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182977883 RCV000349235 |
176 | I>V | No |
ClinVar dbSNP |
|
| TCGA novel | 202 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1326360954 | 208 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1389842497 | 236 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757474059 | 249 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762842349 | 257 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 263 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 313 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 323 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs376153057 | 365 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1386442094 | 375 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1295477255 | 378 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752241422 | 383 | R>* | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1333500909 | 405 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 412 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 420 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 430 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 431 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1163287742 | 432 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 435 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1238627850 | 437 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000087179 rs483352702 |
448 | N>D | No |
ClinVar dbSNP |
|
| rs1404800146 | 452 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1413176372 | 484 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 485 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1265311779 | 495 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 496 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588893751 RCV000788314 |
498 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 506 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 511 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1185331881 | 548 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 559 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 584 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 594 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1339921043 | 602 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 657 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs915913541 | 685 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1205773719 | 693 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
3 associated diseases with Q96SD1
[MIM: 602450]: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID)
A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. {ECO:0000269|PubMed:11336668, ECO:0000269|PubMed:12406895, ECO:0000269|PubMed:12569164, ECO:0000269|PubMed:12592555, ECO:0000269|PubMed:12921762}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 602450]: Severe combined immunodeficiency Athabaskan type (SCIDA)
A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. {ECO:0000269|PubMed:12055248}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 603554]: Omenn syndrome (OS)
Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. {ECO:0000269|PubMed:15731174}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. {ECO:0000269|PubMed:11336668, ECO:0000269|PubMed:12406895, ECO:0000269|PubMed:12569164, ECO:0000269|PubMed:12592555, ECO:0000269|PubMed:12921762}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. {ECO:0000269|PubMed:12055248}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. {ECO:0000269|PubMed:15731174}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q96SD1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | DNA repair metallo-beta-lactamase | 239 - 343 | IPR011084 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nonhomologous end joining complex | A protein complex that plays a role in DNA double-strand break repair via nonhomologous end joining. Such complexes typically contain a specialized DNA ligase (e.g. Lig4 in eukaryotes) and one or more proteins that bind to DNA ends. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5'-3' exodeoxyribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 5' terminus of a DNA molecule. |
| 5'-3' exonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 5' end. |
| damaged DNA binding | Binding to damaged DNA. |
| endonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks. |
| single-stranded DNA endodeoxyribonuclease activity | Catalysis of the hydrolysis of ester linkages within a single-stranded deoxyribonucleic acid molecule by creating internal breaks. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| B cell differentiation | The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| double-strand break repair via nonhomologous end joining | The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear. |
| interstrand cross-link repair | Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
| protection from non-homologous end joining at telomere | A process that prevents non-homologous end joining at telomere, thereby ensuring that telomeres do not fuse. |
| response to ionizing radiation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. |
| V(D)J recombination | The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSFEGQMAE | YPTISIDRFD | RENLRARAYF | LSHCHKDHMK | GLRAPTLKRR | LECSLKVYLY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CSPVTKELLL | TSPKYRFWKK | RIISIEIETP | TQISLVDEAS | GEKEEIVVTL | LPAGHCPGSV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MFLFQGNNGT | VLYTGDFRLA | QGEAARMELL | HSGGRVKDIQ | SVYLDTTFCD | PRFYQIPSRE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ECLSGVLELV | RSWITRSPYH | VVWLNCKAAY | GYEYLFTNLS | EELGVQVHVN | KLDMFRNMPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ILHHLTTDRN | TQIHACRHPK | AEEYFQWSKL | PCGITSRNRI | PLHIISIKPS | TMWFGERSRK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TNVIVRTGES | SYRACFSFHS | SYSEIKDFLS | YLCPVNAYPN | VIPVGTTMDK | VVEILKPLCR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSQSTEPKYK | PLGKLKRART | VHRDSEEEDD | YLFDDPLPIP | LRHKVPYPET | FHPEVFSMTA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSEKQPEKLR | QTPGCCRAEC | MQSSRFTNFV | DCEESNSESE | EEVGIPASLQ | GDLGSVLHLQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KADGDVPQWE | VFFKRNDEIT | DESLENFPSS | TVAGGSQSPK | LFSDSDGEST | HISSQNSSQS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| THITEQGSQG | WDSQSDTVLL | SSQERNSGDI | TSLDKADYRP | TIKENIPASL | MEQNVICPKD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TYSDLKSRDK | DVTIVPSTGE | PTTLSSETHI | PEEKSLLNLS | TNADSQSSSD | FEVPSTPEAE |
| 670 | 680 | 690 | |||
| LPKREHLQYL | YEKLATGESI | AVKKRKCSLL | DT |