Q9NUW8
PR
Gene name |
TDP1 |
Protein name |
Tyrosyl-DNA phosphodiesterase 1 |
Names |
Tyr-DNA phosphodiesterase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55775 |
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
43 structures for Q9NUW8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1JY1 | X-ray | 169 A | A | 149-608 | PDB |
| 1MU7 | X-ray | 200 A | A/B | 149-608 | PDB |
| 1MU9 | X-ray | 205 A | A/B | 149-608 | PDB |
| 1NOP | X-ray | 230 A | A/B | 149-608 | PDB |
| 1QZQ | X-ray | 240 A | A/B | 149-608 | PDB |
| 1RFF | X-ray | 170 A | A/B | 149-608 | PDB |
| 1RFI | X-ray | 220 A | A/B | 149-608 | PDB |
| 1RG1 | X-ray | 210 A | A/B | 149-608 | PDB |
| 1RG2 | X-ray | 210 A | A/B | 149-608 | PDB |
| 1RGT | X-ray | 200 A | A/B | 149-608 | PDB |
| 1RGU | X-ray | 222 A | A/B | 149-608 | PDB |
| 1RH0 | X-ray | 230 A | A/B | 149-608 | PDB |
| 5NW9 | X-ray | 204 A | A/B | 149-608 | PDB |
| 5NWA | X-ray | 320 A | A/B | 149-608 | PDB |
| 6DHU | X-ray | 163 A | A/B | 148-608 | PDB |
| 6DIE | X-ray | 178 A | A/B | 148-608 | PDB |
| 6DIH | X-ray | 178 A | A/B | 148-608 | PDB |
| 6DIM | X-ray | 181 A | A/B | 148-608 | PDB |
| 6DJD | X-ray | 178 A | A/B | 148-608 | PDB |
| 6DJE | X-ray | 171 A | A/B | 148-608 | PDB |
| 6DJF | X-ray | 167 A | A/B | 148-608 | PDB |
| 6DJG | X-ray | 188 A | A/B | 148-608 | PDB |
| 6DJH | X-ray | 192 A | A/B | 148-608 | PDB |
| 6DJI | X-ray | 175 A | A/B | 148-608 | PDB |
| 6DJJ | X-ray | 174 A | A/B | 148-608 | PDB |
| 6MJ5 | X-ray | 185 A | A/B | 149-608 | PDB |
| 6MYZ | X-ray | 166 A | A/B | 148-608 | PDB |
| 6MZ0 | X-ray | 197 A | A/B | 148-608 | PDB |
| 6N0D | X-ray | 145 A | A/B | 148-608 | PDB |
| 6N0N | X-ray | 148 A | A/B | 148-608 | PDB |
| 6N0O | X-ray | 194 A | A/B | 148-608 | PDB |
| 6N0R | X-ray | 154 A | A/B | 148-608 | PDB |
| 6N17 | X-ray | 164 A | A/B | 148-608 | PDB |
| 6N19 | X-ray | 150 A | A/B | 148-608 | PDB |
| 6W4R | X-ray | 182 A | A/B | 148-608 | PDB |
| 6W7J | X-ray | 149 A | A/B | 148-608 | PDB |
| 6W7K | X-ray | 170 A | A/B | 148-608 | PDB |
| 6W7L | X-ray | 186 A | A/B | 148-608 | PDB |
| 7UFY | X-ray | 158 A | A/B | 148-608 | PDB |
| 7UFZ | X-ray | 156 A | A/B | 148-608 | PDB |
| 8CVQ | X-ray | 165 A | A/B | 148-608 | PDB |
| 8CW2 | X-ray | 181 A | A/B | 148-608 | PDB |
| AF-Q9NUW8-F1 | Predicted | AlphaFoldDB |
515 variants for Q9NUW8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002472986 RCV000270004 CA7303498 rs754747710 |
7 | Y>H | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001116479 CA264573438 rs906821798 |
9 | R>G | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390579003 RCV001116480 rs1428279795 |
23 | P>L | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000993298 rs141387488 RCV001116482 CA7303522 |
46 | Y>C | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs140058160 RCV000177303 CA243454 RCV001117926 |
70 | S>T | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001117927 rs148927677 RCV000993299 CA7303538 |
79 | S>T | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000756757 rs35455108 RCV001618553 CA7303555 VAR_025818 RCV001288860 |
101 | P>L | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001117928 CA7303565 rs150113775 |
118 | A>V | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7303569 rs200906712 RCV002537982 RCV001288862 |
124 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7303580 VAR_025819 RCV001288863 rs28365054 RCV001712022 RCV000282718 |
134 | A>T | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7303652 rs754702237 RCV001117929 |
215 | Y>H | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002520929 RCV000321653 CA7303678 rs750038981 RCV002472987 |
239 | H>R | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001119474 rs202165305 RCV001664695 CA7303714 |
253 | A>T | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001334014 CA7303716 rs151271332 |
255 | L>W | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778419 RCV003128694 rs773960264 |
299 | S>missing | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332247 CA7303784 rs370121773 |
304 | R>* | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_025821 RCV000890092 RCV001706485 RCV000403389 CA7303785 rs34452707 COSM198038 |
304 | R>Q | large_intestine Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142600338 CA7303798 RCV001119475 |
333 | P>L | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000993294 rs138044459 RCV000736052 CA7303864 RCV001121475 |
389 | A>T | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390584314 rs892739281 RCV001121476 |
401 | V>F | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7303876 rs138135786 RCV002549837 RCV000993295 |
417 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002493520 rs138711165 CA7303891 RCV001288513 |
439 | L>F | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000395435 rs144746398 CA7303921 RCV001288514 |
448 | R>Q | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000993296 rs141725364 RCV000507130 RCV000364905 CA7303920 |
448 | R>W | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs119467003 RCV003128568 RCV000003593 VAR_017144 CA252767 |
493 | H>R | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 SCAN1; reduces enzyme activity and leads to the accumulation of covalent complexes between TDP1 and DNA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs369742694 RCV001121477 CA7303981 |
509 | W>C | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs772318046 RCV000778159 CA7304022 |
537 | Y>* | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7304086 RCV000517202 RCV000364956 rs35973343 RCV001699306 VAR_025822 |
569 | T>A | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201355368 CA7304094 RCV000265683 RCV000518094 |
583 | S>G | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7304137 RCV002472988 rs772139596 RCV001002022 |
600 | T>M | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000713819 rs1376503364 |
1 | M>R | No |
ClinVar dbSNP |
|
|
rs755551706 CA7303494 |
2 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776938697 CA264573408 |
3 | Q>* | No |
ClinGen TOPMed |
|
|
rs776938697 CA390578862 |
3 | Q>E | No |
ClinGen TOPMed |
|
|
rs1566842071 CA390578865 |
3 | Q>L | No |
ClinGen Ensembl |
|
|
CA7303497 rs748884200 |
6 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390578882 rs1408349393 COSM416579 |
6 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA390578891 rs1218333665 |
7 | Y>C | No |
ClinGen TOPMed |
|
|
CA7303499 rs376954455 |
11 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000713820 rs1566842225 CA390578924 |
12 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7303500 rs200294753 |
12 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1273771111 CA390578926 |
12 | I>T | No |
ClinGen gnomAD |
|
|
CA7303501 rs772583714 |
13 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747589486 CA7303503 |
17 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA390578959 rs1596497913 |
17 | E>G | No |
ClinGen Ensembl |
|
|
rs1003657344 CA264573521 |
17 | E>Q | No |
ClinGen Ensembl |
|
|
rs374176429 CA7303504 |
18 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759728655 CA264573534 |
20 | E>K | No |
ClinGen Ensembl |
|
|
CA7303506 rs572353459 |
21 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769946149 CA7303507 |
22 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7303508 rs775713076 |
24 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765469827 CA7303509 |
25 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355409698 CA390579012 |
25 | P>T | No |
ClinGen gnomAD |
|
|
CA264573570 rs1047602882 |
27 | K>E | No |
ClinGen TOPMed |
|
|
rs377608038 CA390579032 |
28 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377608038 CA7303510 |
28 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750308428 CA7303512 |
30 | T>A | No |
ClinGen ExAC |
|
|
CA7303513 rs1555382631 |
30 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 33 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765806133 CA7303516 |
33 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs540958518 CA7303518 |
36 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7303517 rs753319722 |
36 | A>T | No |
ClinGen ExAC |
|
|
CA7303519 rs778658061 |
37 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs148691948 CA7303520 |
41 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7303521 rs199640249 |
43 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867283847 CA264573607 |
45 | R>G | No |
ClinGen Ensembl |
|
|
CA7303523 rs747457706 |
47 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390579147 rs747457706 |
47 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781564388 RCV000713816 CA7303525 |
50 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA390579173 rs1248016181 |
51 | A>T | No |
ClinGen gnomAD |
|
|
rs1420693256 CA390579203 |
55 | A>T | No |
ClinGen gnomAD |
|
|
CA7303526 rs745900078 |
55 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7303528 rs775659893 |
56 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769893779 CA7303527 |
56 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1461560545 CA390579216 |
57 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7303530 rs771754016 |
59 | K>Q | No |
ClinGen ExAC |
|
|
CA7303531 rs773128968 |
59 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200714439 CA7303533 |
60 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs144085779 CA264573668 |
60 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1378214374 CA390579242 |
61 | S>* | No |
ClinGen gnomAD |
|
|
CA264573677 rs961654826 |
61 | S>P | No |
ClinGen Ensembl |
|
|
CA390579256 rs1226368396 |
64 | K>E | No |
ClinGen gnomAD |
|
|
CA7303534 rs146583849 |
65 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7303535 rs759075091 |
69 | D>A | No |
ClinGen ExAC |
|
|
CA390579302 rs1214473793 |
70 | S>* | No |
ClinGen gnomAD |
|
|
rs1189256562 CA390579308 |
71 | V>A | No |
ClinGen TOPMed |
|
|
rs1596498597 CA390579324 |
74 | P>A | No |
ClinGen Ensembl |
|
|
CA7303537 rs143598870 |
76 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1201778737 CA390579350 |
77 | Q>H | No |
ClinGen TOPMed |
|
|
CA390579366 rs1415595810 |
80 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757585312 CA7303541 |
82 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781696639 CA7303542 |
83 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318940972 CA390579408 |
86 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs903371895 CA264573741 |
87 | W>C | No |
ClinGen Ensembl |
|
|
CA390579421 rs1596498783 |
88 | C>G | No |
ClinGen Ensembl |
|
|
CA390579423 rs1445626690 |
88 | C>Y | No |
ClinGen gnomAD |
|
|
CA7303547 rs768861223 |
90 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA390579437 rs768861223 |
90 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774445276 CA7303548 |
91 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7303549 rs746765889 |
92 | S>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001283508 CA7303551 rs35114462 VAR_025817 RCV000516365 |
95 | E>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs964186590 CA264573787 |
98 | P>L | No |
ClinGen TOPMed |
|
|
rs1566843269 CA390579505 |
100 | M>T | No |
ClinGen Ensembl |
|
|
CA7303554 rs775206722 |
100 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390579513 rs35455108 |
101 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751202785 CA7303557 |
104 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA390579539 rs1473315152 |
105 | A>T | No |
ClinGen gnomAD |
|
|
rs757612085 CA7303558 |
105 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390579542 rs1480022893 |
106 | E>K | No |
ClinGen TOPMed |
|
|
rs750919106 CA7303560 |
108 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7303559 rs767823010 |
108 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596499037 CA390579584 |
112 | K>E | No |
ClinGen Ensembl |
|
|
CA7303561 rs756683358 |
113 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200116265 CA390579591 |
113 | E>K | No |
ClinGen TOPMed |
|
|
RCV000995229 rs769278668 |
114 | K>missing | No |
ClinVar dbSNP |
|
|
rs370785146 RCV001288861 CA7303563 |
116 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7303564 rs749312178 |
117 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1422985822 CA390579626 |
118 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390579640 rs1218004087 |
120 | N>S | No |
ClinGen gnomAD |
|
|
CA390579644 rs1283043310 |
121 | D>N | No |
ClinGen gnomAD |
|
|
CA390579649 rs1349100805 |
121 | D>V | No |
ClinGen gnomAD |
|
|
rs375647992 CA7303568 |
122 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375647992 CA7303567 |
122 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA264573839 rs1033942034 |
122 | G>V | No |
ClinGen TOPMed |
|
|
rs961484373 CA264573848 |
124 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 126 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200900192 CA7303572 |
127 | T>A | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs762485285 CA7303575 |
128 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7303574 rs775591648 |
128 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA390579685 rs775591648 |
128 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1428933205 CA390579700 |
130 | H>D | No |
ClinGen gnomAD |
|
|
CA264573888 rs761433325 |
132 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303578 rs761433325 |
132 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1380342865 CA390579714 |
132 | A>V | No |
ClinGen TOPMed |
|
|
rs28365054 CA390579723 |
134 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA264573889 rs911159455 |
136 | H>R | No |
ClinGen Ensembl |
|
|
CA390579761 rs1434360174 |
139 | K>N | No |
ClinGen gnomAD |
|
|
rs756488898 CA390579759 |
139 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756488898 CA7303581 |
139 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303583 rs754369970 |
142 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA264573897 rs1052147795 |
142 | E>K | No |
ClinGen TOPMed |
|
|
rs755051461 CA7303584 |
144 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755051461 CA7303585 |
144 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303586 rs748386829 |
145 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7303587 rs758613414 |
147 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA390579836 rs1449422430 |
150 | E>V | No |
ClinGen gnomAD |
|
|
rs1253619280 CA390579843 |
151 | G>A | No |
ClinGen gnomAD |
|
|
CA390579839 rs1214998295 |
151 | G>S | No |
ClinGen gnomAD |
|
|
CA7303590 rs368074652 |
152 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA264573928 rs751750153 |
156 | D>H | No |
ClinGen TOPMed |
|
|
CA264573927 rs751750153 |
156 | D>N | No |
ClinGen TOPMed |
|
|
CA390579879 rs1388944804 |
156 | D>V | No |
ClinGen TOPMed |
|
|
rs1374605969 CA390579889 |
157 | M>I | No |
ClinGen gnomAD |
|
|
rs1383231365 CA390579891 |
158 | L>M | No |
ClinGen TOPMed |
|
|
CA390579898 rs1566844145 |
159 | D>Y | No |
ClinGen Ensembl |
|
|
rs1475597067 CA390579929 |
163 | P>H | No |
ClinGen gnomAD |
|
|
CA390579964 rs1390260103 |
168 | L>F | No |
ClinGen gnomAD |
|
|
rs945837339 CA264573932 |
169 | T>A | No |
ClinGen Ensembl |
|
|
CA390579975 rs1454791288 |
170 | R>G | No |
ClinGen TOPMed |
|
|
rs780109615 CA7303593 |
171 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1159942327 CA390579991 |
172 | S>C | No |
ClinGen TOPMed |
|
|
rs1328004740 CA390580008 |
175 | K>T | No |
ClinGen gnomAD |
|
|
rs1892596331 RCV001090625 |
176 | P>missing | No |
ClinVar dbSNP |
|
|
CA390580014 rs1435033981 |
176 | P>A | No |
ClinGen gnomAD |
|
|
COSM3956276 rs768201251 CA390580020 |
177 | K>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768201251 CA7303595 |
177 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303598 rs553373925 |
181 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371486675 CA7303599 |
182 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371486675 CA390580053 |
182 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760984618 CA7303600 |
184 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488590285 CA390580071 |
185 | I>L | No |
ClinGen TOPMed |
|
|
CA390580072 rs1488590285 COSM554034 |
185 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
RCV000518193 COSM958591 rs1555382978 CA390580079 |
186 | K>E | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_025820 rs35271143 CA264575122 |
187 | D>G | No |
ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
|
rs771598099 CA7303619 |
188 | I>L | No |
ClinGen ExAC |
|
|
rs1419708049 CA390580120 |
190 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA390580126 rs1555383437 RCV000516798 |
191 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7303620 rs772817377 |
191 | P>S | No |
ClinGen ExAC |
|
|
rs1210352234 CA390580131 |
192 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1238897763 CA390580136 |
193 | F>L | No |
ClinGen gnomAD |
|
|
CA390580148 rs1437034039 |
194 | G>V | No |
ClinGen gnomAD |
|
|
CA390580145 rs1393785670 |
194 | G>W | No |
ClinGen gnomAD |
|
|
CA390580150 rs1350995435 |
195 | T>A | No |
ClinGen TOPMed |
|
|
rs760365706 CA7303621 |
195 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337524768 CA390580156 |
196 | L>F | No |
ClinGen TOPMed |
|
|
rs1460166147 CA390580171 |
198 | S>C | No |
ClinGen gnomAD |
|
|
rs1460166147 CA390580170 |
198 | S>F | No |
ClinGen gnomAD |
|
|
rs757884742 CA7303638 |
204 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390580238 rs1596509481 |
206 | F>Y | No |
ClinGen Ensembl |
|
|
rs746662161 CA7303641 |
207 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303639 rs543257445 |
207 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7303642 rs776360792 |
208 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770234062 CA7303644 |
209 | D>V | No |
ClinGen ExAC TOPMed |
|
|
rs746170471 CA7303643 |
209 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775838370 CA7303645 |
210 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1271364965 CA390580270 |
211 | L>F | No |
ClinGen gnomAD |
|
|
rs774503843 CA7303648 |
212 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7303647 rs763611818 |
212 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA264575840 CA7303646 rs763611818 |
212 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303651 rs750684850 |
214 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA390580286 rs1566849408 |
214 | Q>P | No |
ClinGen Ensembl |
|
|
CA390580308 rs1419429419 |
217 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148474327 CA7303655 |
219 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142576522 CA264575858 |
219 | F>S | No |
ClinGen ESP |
|
|
rs777694837 CA7303656 |
220 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303671 rs145987197 |
221 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752425103 CA7303672 |
223 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7303673 rs758205331 |
224 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390580372 rs1209159042 |
226 | L>V | No |
ClinGen gnomAD |
|
|
rs1037471566 CA264577903 |
227 | V>M | No |
ClinGen Ensembl |
|
|
rs1332850249 CA390580405 |
231 | K>E | No |
ClinGen TOPMed |
|
|
CA7303674 rs763971344 |
232 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7303675 rs751528967 |
232 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182245462 CA7303676 |
233 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1376494296 CA390580426 |
234 | A>G | No |
ClinGen Ensembl |
|
|
CA390580422 rs1470857718 |
234 | A>T | No |
ClinGen gnomAD |
|
|
rs143744863 CA264577926 |
235 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1424350756 CA390580436 |
236 | A>P | No |
ClinGen gnomAD |
|
|
rs780811626 CA7303677 |
237 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs955290872 CA264577946 |
238 | L>H | No |
ClinGen TOPMed |
|
|
rs1375769921 CA390580462 |
240 | A>S | No |
ClinGen gnomAD |
|
|
CA7303679 rs755722759 |
243 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7303680 rs779863680 RCV000756758 |
244 | P>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs778913360 CA264577978 |
245 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA264577973 rs541453571 |
245 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541453571 CA7303681 |
245 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779526188 CA7303683 |
246 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757945211 CA264577990 |
247 | N>S | No |
ClinGen Ensembl |
|
|
rs1566855454 CA390580511 |
248 | I>L | No |
ClinGen Ensembl |
|
|
rs1194905418 CA390580523 |
249 | S>C | No |
ClinGen gnomAD |
|
|
CA264578003 COSM164841 rs919944217 |
250 | L>V | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1019706214 CA264578004 |
251 | C>G | No |
ClinGen TOPMed |
|
|
rs202165305 CA7303713 |
253 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390580568 rs983366528 |
255 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7303715 rs151271332 |
255 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7303717 rs750355594 |
256 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303719 rs766032249 |
258 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs974138743 CA264581644 |
260 | G>R | No |
ClinGen Ensembl |
|
|
rs754747645 CA7303721 |
261 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs562317662 CA7303724 |
263 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390580630 rs1391253393 |
264 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7303738 rs759132603 |
265 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390580822 rs1596544713 |
266 | M>V | No |
ClinGen Ensembl |
|
|
CA390580837 rs1566867400 |
267 | M>I | No |
ClinGen Ensembl |
|
|
rs1438207109 CA390580830 |
267 | M>L | No |
ClinGen TOPMed |
|
|
rs764936943 CA7303739 RCV001288866 |
268 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA264585336 rs1054910123 |
269 | L>P | No |
ClinGen Ensembl |
|
|
CA390580849 rs1209723144 |
270 | L>F | No |
ClinGen gnomAD |
|
|
CA390580848 rs1209723144 |
270 | L>V | No |
ClinGen gnomAD |
|
|
CA7303740 rs752324125 |
271 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390580878 rs1252078966 |
274 | G>C | No |
ClinGen TOPMed |
|
|
rs752093573 CA264585358 |
274 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752093573 CA7303743 |
274 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390580882 rs1355260732 |
275 | L>F | No |
ClinGen TOPMed |
|
|
rs1179694782 CA390580887 |
276 | R>Q | No |
ClinGen gnomAD |
|
|
CA7303744 rs757694490 |
276 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303748 rs558781470 |
279 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7303749 rs780290228 |
279 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA264585396 rs558781470 |
279 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7303750 rs749517155 |
280 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390580914 rs1308204961 |
281 | T>A | No |
ClinGen TOPMed |
|
|
CA390580920 rs1240812337 |
282 | S>P | No |
ClinGen TOPMed |
|
|
rs1303253232 CA390580929 |
283 | N>I | No |
ClinGen gnomAD |
|
|
rs1303253232 CA390580930 |
283 | N>S | No |
ClinGen gnomAD |
|
|
rs1395635453 CA390580969 |
286 | H>R | No |
ClinGen gnomAD |
|
|
CA390581031 rs1389626630 |
289 | W>* | No |
ClinGen gnomAD |
|
|
CA7303751 rs184648965 |
290 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000518218 CA7303752 rs190449861 |
292 | K>N | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1337436515 CA390581157 |
294 | Q>E | No |
ClinGen TOPMed |
|
|
CA7303778 rs371566573 |
296 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs781246285 CA7303777 |
296 | I>T | No |
ClinGen ExAC |
|
|
rs770884295 CA7303776 |
296 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390581990 rs1192326854 |
299 | S>G | No |
ClinGen TOPMed |
|
|
CA7303780 rs373753771 |
299 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7303781 rs774930586 |
300 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390582020 rs1176077743 |
301 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375817400 CA7303782 |
302 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768142523 CA7303783 |
303 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767915957 CA7303786 |
305 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7303787 rs367992333 RCV001288867 |
305 | I>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145417794 CA7303789 |
308 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390582124 rs1371274741 |
309 | T>S | No |
ClinGen gnomAD |
|
|
rs1310237457 CA390582137 |
310 | H>L | No |
ClinGen gnomAD |
|
|
rs1347483075 CA390582139 |
310 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1310237457 CA390582136 |
310 | H>R | No |
ClinGen gnomAD |
|
|
CA390582133 rs1242481846 |
310 | H>Y | No |
ClinGen gnomAD |
|
|
rs753807686 CA7303790 |
311 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755110686 CA7303791 |
311 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM241862 CA264588402 rs759700086 |
315 | S>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7303792 rs778965872 |
315 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA264588373 rs759700086 |
315 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7303793 rs372524167 |
318 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs1178765115 CA390582272 |
319 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1394066581 CA390582285 |
320 | K>T | No |
ClinGen gnomAD |
|
|
rs757098079 CA7303794 |
322 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390582321 rs1172104089 |
323 | L>I | No |
ClinGen gnomAD |
|
|
RCV000517755 rs1555387533 CA390582340 |
324 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA390582380 rs1328756713 |
327 | L>S | No |
ClinGen gnomAD |
|
|
CA390582376 RCV000518644 rs1555387536 |
327 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1416718342 CA390582396 |
328 | M>I | No |
ClinGen TOPMed |
|
|
CA7303796 rs745797232 |
328 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1895351840 RCV001288868 |
328 | M>V | No |
ClinVar dbSNP |
|
|
CA264588430 rs1001526427 |
329 | A>V | No |
ClinGen Ensembl |
|
|
rs1596554979 CA390582464 |
332 | A>T | No |
ClinGen Ensembl |
|
|
rs769559433 CA7303797 |
332 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748704658 CA7303799 |
335 | L>F | No |
ClinGen ExAC |
|
|
CA264588458 rs952079762 |
335 | L>R | No |
ClinGen Ensembl |
|
|
rs1566873353 CA390582582 |
337 | E>G | No |
ClinGen Ensembl |
|
|
rs1341371098 CA390582606 |
338 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7303802 rs773967769 |
339 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1345447808 CA390582666 |
340 | D>G | No |
ClinGen gnomAD |
|
|
CA7303803 rs747853243 |
341 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA264588514 rs1006113649 |
343 | H>Y | No |
ClinGen Ensembl |
|
|
rs199879149 CA7303807 |
346 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199879149 CA7303806 |
346 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466813215 CA390582874 |
348 | S>C | No |
ClinGen gnomAD |
|
|
CA390582909 rs1566873513 |
350 | T>A | No |
ClinGen Ensembl |
|
|
CA390582926 rs1246985820 |
350 | T>R | No |
ClinGen gnomAD |
|
|
CA390583178 rs1463546264 |
353 | Y>F | No |
ClinGen TOPMed |
|
|
CA390583196 rs1267755234 |
354 | L>R | No |
ClinGen TOPMed |
|
|
rs1209554219 CA390583206 |
355 | I>T | No |
ClinGen TOPMed |
|
|
CA264588989 rs953878955 |
357 | S>T | No |
ClinGen TOPMed |
|
|
rs937436370 CA264588991 |
360 | G>A | No |
ClinGen gnomAD |
|
|
rs368969696 CA7303830 RCV000518577 |
361 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7303831 rs371563681 |
361 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA264589027 rs1036757935 |
369 | N>S | No |
ClinGen TOPMed |
|
|
rs1036757935 CA390583413 |
369 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 370 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7303835 rs751848410 |
371 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs766250801 CA7303837 |
372 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA390583496 rs1489467983 |
374 | R>K | No |
ClinGen gnomAD |
|
|
rs1170576914 CA390583525 |
376 | K>R | No |
ClinGen TOPMed |
|
|
rs1189648593 CA390583530 |
377 | K>E | No |
ClinGen gnomAD |
|
|
CA390583921 rs1329685370 |
378 | L>P | No |
ClinGen TOPMed |
|
|
rs752676301 CA7303862 |
381 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA390583978 rs1406458368 |
382 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 382 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439719717 CA390584013 |
384 | S>* | No |
ClinGen gnomAD |
|
|
COSM1707687 rs1303046550 CA390584027 |
385 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs904276047 CA264591700 |
389 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA264591710 rs756869320 |
393 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7303866 rs756869320 |
393 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390584158 rs1196775817 |
394 | V>L | No |
ClinGen gnomAD |
|
|
CA7303868 rs746194774 |
395 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770320428 CA7303869 |
398 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780684064 CA7303870 |
399 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA390584334 rs1176571465 |
401 | V>A | No |
ClinGen gnomAD |
|
|
CA264591768 rs892739281 |
401 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1372389287 CA390584384 |
403 | S>Y | No |
ClinGen gnomAD |
|
|
rs1452120576 CA390584415 |
404 | L>F | No |
ClinGen TOPMed |
|
|
rs1464018873 CA390584391 |
404 | L>M | No |
ClinGen gnomAD |
|
|
rs1023871505 CA264591773 |
405 | G>E | No |
ClinGen TOPMed |
|
|
CA7303871 rs749867946 |
406 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1566879029 CA390584497 |
407 | D>G | No |
ClinGen Ensembl |
|
|
rs765018747 CA264591803 |
407 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390584519 rs1242563665 |
408 | E>V | No |
ClinGen TOPMed |
|
|
CA7303873 rs774417652 |
411 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA7303875 rs772285874 |
413 | C>R | No |
ClinGen ExAC |
|
|
CA264591812 rs969999224 |
414 | S>Y | No |
ClinGen Ensembl |
|
|
rs1388852488 CA390584703 |
416 | F>L | No |
ClinGen gnomAD |
|
|
rs765070148 CA7303878 |
418 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7303877 rs759300952 |
418 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390584858 rs1377780661 |
421 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 422 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7303879 rs752621340 CA390584904 |
424 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390584946 rs1263870027 |
426 | E>K | No |
ClinGen gnomAD |
|
|
CA7303880 rs762945256 |
428 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA264591862 rs908512120 |
429 | T>I | No |
ClinGen Ensembl |
|
|
CA7303881 rs142617026 |
429 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 430 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 431 | G>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7303883 rs756741523 |
431 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202147730 RCV000517174 CA7303884 |
432 | K>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs957016328 CA264591891 |
433 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs373675425 CA7303885 |
434 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146029247 CA264591895 |
434 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1351215095 CA390585147 |
435 | V>F | No |
ClinGen gnomAD |
|
|
CA390585167 rs1440925408 |
436 | P>R | No |
ClinGen TOPMed |
|
|
rs756534328 CA7303887 |
437 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756534328 CA264591908 |
437 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749670003 CA7303890 |
438 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7303889 rs182086916 |
438 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000518085 CA264591924 rs182086916 |
438 | Y>N | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs758085913 CA264592536 |
440 | I>M | No |
ClinGen Ensembl |
|
|
CA390585307 rs1268977860 |
441 | Y>C | No |
ClinGen gnomAD |
|
|
CA7303916 rs771083449 |
442 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA390585314 rs771083449 |
442 | P>T | No |
ClinGen ExAC TOPMed |
|
|
rs776863526 CA7303917 |
445 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389133098 CA390585361 |
445 | E>G | No |
ClinGen TOPMed |
|
|
CA7303918 rs749071619 |
446 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749071619 CA7303919 |
446 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390585416 rs1232088726 |
449 | T>P | No |
ClinGen TOPMed |
|
|
CA390585452 rs1448806756 |
451 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7303922 rs767493573 |
453 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7303923 rs772787737 |
455 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552293742 CA7303935 |
457 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390586847 rs1332272305 |
458 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 459 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774759746 CA264593728 |
460 | L>F | No |
ClinGen Ensembl |
|
|
CA7303937 rs778505852 |
462 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA390586875 rs1596575426 |
463 | S>G | No |
ClinGen Ensembl |
|
|
rs1397353082 CA390586891 |
465 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 465 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390586900 rs148525862 |
466 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390586901 rs148525862 |
466 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7303938 rs148525862 |
466 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371731167 CA7303940 |
467 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772082290 CA7303939 |
467 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA264593768 rs967989804 |
468 | E>A | No |
ClinGen Ensembl |
|
|
CA390586917 rs1288659107 |
469 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1449544485 CA390586967 |
472 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390586995 rs1248828708 |
474 | H>P | No |
ClinGen gnomAD |
|
|
CA390587025 rs1193559215 |
476 | Y>C | No |
ClinGen gnomAD |
|
|
rs776336748 CA7303943 |
476 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA7303944 rs759181166 |
478 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390587263 rs1321560611 |
480 | W>G | No |
ClinGen gnomAD |
|
|
CA7303971 rs750416947 |
480 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA487531897 rs1255521834 |
481 | S>* | No |
ClinGen TOPMed |
|
|
CA390587319 rs1356385927 |
483 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs962338975 CA264594415 |
484 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7303972 rs756246579 |
486 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs766476915 CA7303973 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7303974 rs567684858 |
487 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1306752012 CA390587370 |
488 | S>N | No |
ClinGen Ensembl |
|
|
CA7303975 rs758257019 |
490 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390587426 rs1352155155 |
491 | M>L | No |
ClinGen TOPMed |
|
|
CA7303976 rs777780360 |
497 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1381936528 CA390587522 |
497 | Y>S | No |
ClinGen gnomAD |
|
|
CA390587537 rs1331604144 |
498 | M>V | No |
ClinGen TOPMed |
|
|
rs1171905322 CA390587580 |
499 | R>T | No |
ClinGen gnomAD |
|
|
rs757208345 CA7303978 |
503 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA390587696 rs1397230340 |
504 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1397230340 CA390587697 |
504 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA390587770 rs1321415476 |
506 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 506 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444127192 CA390587807 |
508 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1240263898 CA390587859 |
510 | F>L | No |
ClinGen gnomAD |
|
|
rs1255889708 CA390587873 |
510 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1202197012 CA390587957 |
513 | T>A | No |
ClinGen gnomAD |
|
|
CA264594433 rs924877072 |
514 | S>N | No |
ClinGen TOPMed |
|
|
rs773576388 CA390594739 |
514 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7304006 rs200769126 RCV000516339 |
515 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs377027327 CA7304007 |
516 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390594771 rs377027327 |
516 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7304008 rs776798636 |
519 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000713817 CA390594873 rs1566913776 |
519 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7304009 rs759715875 |
519 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216827628 CA390594916 |
521 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 523 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312261210 CA390594974 |
523 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7304011 rs554308994 |
524 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7304013 rs767405639 |
525 | L>S | No |
ClinGen ExAC |
|
|
rs750187948 CA7304014 |
526 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7304016 rs144968093 |
527 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7304018 rs371140040 |
530 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7304017 rs371140040 |
530 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA264611133 rs199825907 |
531 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA264611130 rs199825907 |
531 | Q>E | No |
ClinGen 1000Genomes |
|
|
CA264611139 rs1027268651 |
531 | Q>P | No |
ClinGen TOPMed |
|
|
CA390595209 rs1427822684 |
533 | M>I | No |
ClinGen gnomAD |
|
|
CA264611149 rs764368550 |
534 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 534 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7304019 rs754519508 |
535 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7304020 rs113531329 |
535 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390595259 rs113531329 |
535 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747853147 CA264611150 |
536 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747853147 CA7304021 |
536 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7304024 rs747349186 |
538 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7304026 rs777314131 |
540 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193678728 CA390595480 |
545 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7304027 rs759660970 |
545 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 550 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA264586098 rs917004698 |
554 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751222886 CA7304080 |
561 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390582801 rs1596711433 |
564 | Q>R | No |
ClinGen Ensembl |
|
|
CA390582823 rs1449467935 |
565 | E>V | No |
ClinGen TOPMed |
|
|
rs767298655 CA7304082 VAR_017145 |
566 | P>L | autosomal recessive or sporadic spinocerebellar ataxia affected Japanese individuals [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs375084022 RCV001288518 CA7304085 CA7304084 |
567 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7304083 rs750775300 |
567 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1596711536 CA390582878 |
568 | A>G | No |
ClinGen Ensembl |
|
|
rs1596711588 CA390582912 |
570 | F>L | No |
ClinGen Ensembl |
|
|
CA390583003 rs1430888255 |
574 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7304088 rs145520762 |
579 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772235823 CA7304090 |
580 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7304093 rs769630346 |
581 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs745632206 CA7304092 |
581 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7304129 rs148839664 |
585 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs757367768 CA7304131 |
586 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751645810 CA7304130 |
586 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 588 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781505913 CA7304132 |
589 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs749002950 CA7304133 |
591 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448678545 CA390584310 |
592 | I>V | No |
ClinGen gnomAD |
|
|
rs143446933 CA7304134 |
597 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113382706 CA7304135 |
598 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171338825 CA390584455 |
598 | P>S | No |
ClinGen TOPMed |
|
|
rs137907735 CA264593819 |
599 | D>N | No |
ClinGen ESP |
|
|
CA7304139 rs144917055 |
601 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390584544 rs1566937826 |
601 | H>Y | No |
ClinGen Ensembl |
|
|
CA264593836 rs770452022 |
604 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1044550706 CA264593840 |
604 | M>T | No |
ClinGen TOPMed |
|
|
CA7304140 rs770452022 |
604 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs776387608 CA7304141 |
606 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390584691 rs1159521483 |
607 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 607 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390584714 rs1252276793 |
608 | S>C | No |
ClinGen TOPMed |
1 associated diseases with Q9NUW8
[MIM: 607250]: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. {ECO:0000269|PubMed:12244316, ECO:0000269|PubMed:15647511, ECO:0000269|PubMed:15920477, ECO:0000269|PubMed:16141202, ECO:0000269|PubMed:17948061}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. {ECO:0000269|PubMed:12244316, ECO:0000269|PubMed:15647511, ECO:0000269|PubMed:15920477, ECO:0000269|PubMed:16141202, ECO:0000269|PubMed:17948061}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9NUW8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NUW8 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-tyrosyl-DNA phosphodiesterase activity | Catalysis of the hydrolysis of 3'-phosphotyrosyl groups formed as covalent intermediates (in DNA backbone breakage) between DNA topoisomerase I and DNA. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| exonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| single strand break repair | The repair of single strand breaks in DNA. Repair of such breaks is mediated by the same enzyme systems as are used in base excision repair. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38319 | TDP1 | Tyrosyl-DNA phosphodiesterase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9VQM4 | gkt | Probable tyrosyl-DNA phosphodiesterase | Drosophila melanogaster (Fruit fly) | PR |
| Q8BJ37 | Tdp1 | Tyrosyl-DNA phosphodiesterase 1 | Mus musculus (Mouse) | PR |
| Q8H1D9 | TDP1 | Tyrosyl-DNA phosphodiesterase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSQEGDYGRW | TISSSDESEE | EKPKPDKPST | SSLLCARQGA | ANEPRYTCSE | AQKAAHKRKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SPVKFSNTDS | VLPPKRQKSG | SQEDLGWCLS | SSDDELQPEM | PQKQAEKVVI | KKEKDISAPN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DGTAQRTENH | GAPACHRLKE | EEDEYETSGE | GQDIWDMLDK | GNPFQFYLTR | VSGVKPKYNS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GALHIKDILS | PLFGTLVSSA | QFNYCFDVDW | LVKQYPPEFR | KKPILLVHGD | KREAKAHLHA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QAKPYENISL | CQAKLDIAFG | THHTKMMLLL | YEEGLRVVIH | TSNLIHADWH | QKTQGIWLSP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LYPRIADGTH | KSGESPTHFK | ADLISYLMAY | NAPSLKEWID | VIHKHDLSET | NVYLIGSTPG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RFQGSQKDNW | GHFRLKKLLK | DHASSMPNAE | SWPVVGQFSS | VGSLGADESK | WLCSEFKESM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LTLGKESKTP | GKSSVPLYLI | YPSVENVRTS | LEGYPAGGSL | PYSIQTAEKQ | NWLHSYFHKW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SAETSGRSNA | MPHIKTYMRP | SPDFSKIAWF | LVTSANLSKA | AWGALEKNGT | QLMIRSYELG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VLFLPSAFGL | DSFKVKQKFF | AGSQEPMATF | PVPYDLPPEL | YGSKDRPWIW | NIPYVKAPDT |
| HGNMWVPS |