P56282
PR
Gene name |
POLE2 |
Protein name |
DNA polymerase epsilon subunit 2 |
Names |
DNA polymerase II subunit 2, DNA polymerase epsilon subunit B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5427 |
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
5 structures for P56282
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2V6Z | NMR | - | M | 1-73 | PDB |
| 5VBN | X-ray | 235 A | A/E | 1-527 | PDB |
| 7PFO | EM | 320 A | A | 1-527 | PDB |
| 7PLO | EM | 280 A | A | 1-527 | PDB |
| AF-P56282-F1 | Predicted | AlphaFoldDB |
396 variants for P56282
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA389618192 rs368608405 |
2 | A>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1302317718 CA389618201 |
2 | A>P | No |
ClinGen gnomAD |
|
|
rs368608405 CA260664302 |
2 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1165461642 CA389618169 |
3 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1165461642 CA389618175 |
3 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7173776 rs772722364 |
3 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 4 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177783026 CA389618166 |
4 | E>Q | No |
ClinGen gnomAD |
|
|
rs982453601 CA260664291 |
5 | R>W | No |
ClinGen gnomAD |
|
|
CA7173774 rs774328784 |
7 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868398763 CA260664286 |
7 | R>L | No |
ClinGen gnomAD |
|
|
rs868398763 CA389618111 |
7 | R>Q | No |
ClinGen gnomAD |
|
|
rs774328784 CA389618115 |
7 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335025425 CA389618104 |
8 | S>G | No |
ClinGen TOPMed |
|
|
rs867459436 CA260664281 |
8 | S>I | No |
ClinGen Ensembl |
|
|
CA7173771 rs778008374 |
9 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867098450 CA260664276 |
9 | R>L | No |
ClinGen gnomAD |
|
|
CA7173772 rs778008374 |
9 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389618046 rs1297842797 |
10 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389618052 rs1297842797 |
10 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA260664272 rs1016391003 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1301592510 CA389618020 |
11 | L>P | No |
ClinGen gnomAD |
|
|
rs199837996 CA7173767 |
12 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185120633 CA389617956 |
13 | A>V | No |
ClinGen TOPMed |
|
|
CA389617911 rs1172197561 |
15 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA389617914 rs1172197561 |
15 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs865807175 CA260664254 |
17 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs865807175 CA260664257 |
17 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs865807175 CA389617874 |
17 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs868116870 CA260664261 |
17 | R>W | No |
ClinGen Ensembl |
|
|
CA389617860 rs1196898070 |
18 | G>C | No |
ClinGen gnomAD |
|
|
rs902923829 CA260664252 |
18 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs756832434 CA7173764 |
20 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA260664246 rs868246961 |
21 | L>F | No |
ClinGen Ensembl |
|
|
rs1253079878 CA389617787 |
21 | L>P | No |
ClinGen gnomAD |
|
|
rs760349970 CA7173761 |
22 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260664238 rs867789980 |
23 | G>C | No |
ClinGen Ensembl |
|
|
rs1594622936 CA389616600 |
24 | E>A | No |
ClinGen Ensembl |
|
|
CA260662839 rs914857710 |
25 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA260662833 rs1056348935 |
26 | I>S | No |
ClinGen Ensembl |
|
|
CA7173748 rs147671480 |
26 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369935215 CA7173746 |
29 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189702464 CA389616522 |
31 | E>K | No |
ClinGen gnomAD |
|
|
CA7173745 rs374678938 |
32 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371244840 CA7173744 |
33 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7173743 rs755865309 |
34 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA389616482 rs1348225391 |
34 | Q>R | No |
ClinGen gnomAD |
|
|
CA7173742 rs371728109 |
36 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs1358643692 COSM955952 CA389616408 |
40 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs759981747 CA7173740 |
40 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA389616376 rs756026684 |
45 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173738 rs766965914 |
49 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763308866 CA7173737 |
50 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380193801 CA389616307 |
51 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1380193801 CA389616311 |
51 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773282710 CA7173736 |
52 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389616282 rs1566574193 |
53 | E>Q | No |
ClinGen Ensembl |
|
|
CA389616247 rs1263218978 |
55 | Q>E | No |
ClinGen gnomAD |
|
|
rs769824148 CA7173735 |
56 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA389615252 rs1454870760 |
58 | S>T | No |
ClinGen TOPMed |
|
|
rs554561242 CA7173715 |
61 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7173716 rs766585182 |
61 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA389615184 rs1424183945 |
62 | I>T | No |
ClinGen TOPMed |
|
|
rs55817802 CA7173714 |
63 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765702439 CA7173713 |
64 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173712 rs537941310 |
64 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 65 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456187208 CA389615158 |
65 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368181624 CA7173711 |
66 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452117824 CA389615125 |
68 | E>* | No |
ClinGen gnomAD |
|
|
CA7173710 rs568978468 |
69 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554678911 CA260661479 |
72 | Q>H | No |
ClinGen gnomAD |
|
|
rs760744248 CA7173709 |
72 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM4148106 CA389615018 rs758265986 |
74 | C>F | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1172207 CA260661475 rs758265986 |
74 | C>Y | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7173708 rs774235760 |
76 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901108431 CA260661470 |
78 | V>I | No |
ClinGen TOPMed |
|
|
rs1437724514 CA389614904 |
82 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs34857719 VAR_044379 CA7173679 |
84 | H>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7173677 rs757794783 |
84 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751563432 COSM955951 CA7173676 |
85 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1200242407 CA389612819 |
86 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1594603992 CA389612797 |
88 | I>V | No |
ClinGen Ensembl |
|
|
CA389612771 rs1381482854 |
89 | I>T | No |
ClinGen gnomAD |
|
|
CA7173675 rs778324639 |
89 | I>V | No |
ClinGen ExAC |
|
|
rs752813081 CA7173673 |
91 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs554448539 CA7173674 |
91 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359599479 CA389612728 |
92 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389612636 rs1296117906 |
95 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1296117906 CA389612647 |
95 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7173672 rs767906179 |
96 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759771973 CA389612624 |
96 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7173671 rs759771973 |
96 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA260659878 COSM106531 rs146999356 |
103 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 106 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7173668 rs527664455 |
108 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7173667 rs150528954 |
108 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7173652 rs781352064 |
111 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1300345374 CA389612025 |
114 | H>L | No |
ClinGen gnomAD |
|
|
CA7173651 rs755280065 |
114 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751780432 CA389611995 |
116 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389612002 rs1384933050 |
116 | A>T | No |
ClinGen gnomAD |
|
|
rs751780432 CA7173650 |
116 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766688419 CA389611983 |
117 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389611977 rs766688419 |
117 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173649 rs766688419 |
117 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173648 rs761554020 |
118 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173647 rs753654811 |
119 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760592957 CA7173645 |
120 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs897035611 CA260659786 |
122 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1377361369 CA389611852 |
123 | P>A | No |
ClinGen gnomAD |
|
|
rs1377361369 CA389611850 |
123 | P>S | No |
ClinGen gnomAD |
|
|
rs775011082 CA7173644 |
125 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs774028778 CA7173641 |
129 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173642 rs759022429 |
129 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA389611671 rs1456468481 |
130 | F>C | No |
ClinGen gnomAD |
|
|
rs1204195078 CA389611659 |
130 | F>L | No |
ClinGen TOPMed |
|
|
rs371966509 COSM553167 CA7173640 |
131 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7173639 rs145759008 |
131 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA389611606 rs1323093628 |
133 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM72243 rs773570956 CA7173638 |
133 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1555333586 CA16042892 |
134 | Y>H | No |
ClinGen Ensembl |
|
|
rs376373426 CA260659768 |
135 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376373426 CA7173637 |
135 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389611485 rs1453167432 |
138 | H>Y | No |
ClinGen TOPMed |
|
|
rs372857838 CA7173615 |
140 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777318664 CA7173616 |
140 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014488300 CA260658827 |
143 | R>K | No |
ClinGen Ensembl |
|
|
rs1362983845 CA389609435 |
143 | R>W | No |
ClinGen gnomAD |
|
|
rs1457730758 CA389609343 |
148 | T>I | No |
ClinGen gnomAD |
|
|
rs533179294 CA260658824 |
149 | P>S | No |
ClinGen 1000Genomes |
|
|
CA7173613 rs149730231 |
150 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758578486 CA389609309 |
151 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173612 rs758578486 |
151 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424624568 CA389609290 |
152 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1189815068 CA389609297 |
152 | I>V | No |
ClinGen gnomAD |
|
|
CA7173611 rs746051865 |
153 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA389609253 rs1487212173 |
155 | H>P | No |
ClinGen gnomAD |
|
|
rs1215615163 CA389609259 |
155 | H>Y | No |
ClinGen gnomAD |
|
|
rs1288033629 CA389609216 |
157 | D>Y | No |
ClinGen gnomAD |
|
|
rs778978215 CA7173610 |
159 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7173608 rs752482051 |
160 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389609099 rs774521998 |
161 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774521998 CA7173607 |
161 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200328064 CA7173606 |
161 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389609020 rs1347126607 |
164 | Q>H | No |
ClinGen TOPMed |
|
|
CA389608079 rs1279243098 |
168 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1249272882 CA389608071 |
168 | I>M | No |
ClinGen TOPMed |
|
|
rs779259575 CA7173588 |
168 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1279243098 CA389608080 |
168 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7173587 rs201704681 |
169 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150596542 CA7173585 |
169 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150596542 CA7173586 |
169 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375722744 CA260658241 |
172 | L>S | No |
ClinGen Ensembl |
|
|
rs754943640 CA7173584 |
173 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389607994 rs751453028 |
174 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA7173583 rs751453028 |
174 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7173582 rs779836154 |
175 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA389607978 rs1425419170 |
176 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7173580 rs767851728 |
179 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA260658234 rs755132837 |
181 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA389607945 rs755132837 |
181 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389607937 rs1424412192 |
183 | V>I | No |
ClinGen TOPMed |
|
|
CA389607925 rs1468500493 |
185 | G>R | No |
ClinGen gnomAD |
|
|
rs1168523133 CA389607916 |
186 | M>R | No |
ClinGen TOPMed |
|
|
rs1168523133 CA389607915 |
186 | M>T | No |
ClinGen TOPMed |
|
|
rs761499523 CA260658231 CA7173578 |
187 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1388104005 CA389607895 |
188 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7173577 rs754285478 |
188 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1273347614 CA389607869 |
189 | Q>R | No |
ClinGen gnomAD |
|
|
CA389607695 rs1271541532 |
193 | G>E | No |
ClinGen TOPMed |
|
|
CA7173554 rs756610389 |
194 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752988041 CA7173553 |
195 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7173552 rs768078630 |
196 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1044973673 CA260658000 |
199 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759888979 CA7173551 |
200 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 201 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389607569 rs1408099604 |
202 | G>E | No |
ClinGen gnomAD |
|
|
rs1180856619 CA389607560 |
203 | T>S | No |
ClinGen gnomAD |
|
|
CA389607499 rs1488195544 |
207 | D>E | No |
ClinGen gnomAD |
|
|
rs1328806548 CA389607501 |
207 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA260657991 rs746882056 |
208 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173544 rs775089954 |
208 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746882056 CA7173545 |
208 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745743163 CA7173542 |
209 | S>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1323489 rs1289249590 CA389607484 |
209 | S>R | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7173541 rs778970856 |
210 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594586144 CA389607423 |
212 | Q>E | No |
ClinGen Ensembl |
|
|
CA389607418 rs1489479295 |
212 | Q>H | No |
ClinGen gnomAD |
|
|
rs369869091 CA7173514 |
213 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456605640 CA389607407 |
214 | H>P | No |
ClinGen gnomAD |
|
|
rs931586213 CA260657896 |
214 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA389607141 rs1208413267 |
215 | S>G | No |
ClinGen TOPMed |
|
|
CA389607130 rs1253148862 |
215 | S>N | No |
ClinGen TOPMed |
|
|
CA260657893 rs920066811 |
216 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7173513 rs777349045 |
216 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA389607103 rs920066811 |
216 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769513508 CA7173512 |
218 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7173511 rs374671423 |
219 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 220 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389606897 rs1181787276 |
224 | V>I | No |
ClinGen TOPMed |
|
|
rs1351996940 CA389606435 |
231 | E>Q | No |
ClinGen TOPMed |
|
|
rs949960896 CA260657621 |
233 | Q>E | No |
ClinGen Ensembl |
|
|
rs1458802239 CA389606384 |
233 | Q>R | No |
ClinGen TOPMed |
|
|
rs768342315 CA7173491 |
238 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768342315 CA7173490 |
238 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260657616 rs1029759847 |
239 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389606282 rs1029759847 |
239 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1280910143 CA389606231 |
245 | T>S | No |
ClinGen gnomAD |
|
|
CA260657611 rs747389165 |
246 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA389606228 rs1350101780 |
246 | E>Q | No |
ClinGen TOPMed |
|
|
rs780329890 CA7173488 |
249 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs994178681 CA260657608 |
251 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1339493044 CA389606188 |
252 | R>M | No |
ClinGen gnomAD |
|
|
rs1339493044 CA389606189 |
252 | R>T | No |
ClinGen gnomAD |
|
|
rs372246512 CA7173474 |
255 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773326667 CA389604657 |
257 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173472 rs769769728 |
257 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs773326667 CA7173473 |
257 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229858055 CA389604633 |
258 | I>T | No |
ClinGen TOPMed |
|
|
CA7173471 rs761290486 |
259 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389604550 rs1234771180 |
263 | G>V | No |
ClinGen gnomAD |
|
|
CA389604520 rs1335836502 |
266 | N>D | No |
ClinGen gnomAD |
|
|
CA7173469 rs776150733 |
267 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA7173468 rs768199776 |
271 | T>I | No |
ClinGen ExAC |
|
|
rs1398602747 CA389604427 |
272 | S>F | No |
ClinGen gnomAD |
|
|
rs746625112 CA7173467 |
273 | A>V | No |
ClinGen ExAC |
|
|
rs141483427 CA7173466 |
275 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7173465 rs772464647 |
275 | L>R | No |
ClinGen ExAC |
|
|
CA389604366 rs1328686430 |
277 | Q>L | No |
ClinGen gnomAD |
|
|
CA7173461 rs779344619 |
284 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173460 rs757722402 |
285 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7173459 rs368277605 |
286 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389604201 rs1423259829 |
288 | V>A | No |
ClinGen gnomAD |
|
|
CA389604162 rs557481363 |
291 | S>A | No |
ClinGen gnomAD |
|
|
CA260656174 rs557481363 |
291 | S>P | No |
ClinGen gnomAD |
|
|
CA389604145 rs1474330367 |
292 | D>G | No |
ClinGen gnomAD |
|
|
rs941313287 CA260656173 |
292 | D>H | No |
ClinGen TOPMed |
|
|
rs1390403653 CA389604120 |
294 | W>L | No |
ClinGen TOPMed |
|
|
CA7173457 rs777865583 |
294 | W>R | No |
ClinGen ExAC TOPMed |
|
|
rs756423975 CA7173456 |
297 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA389604045 rs1594570329 |
299 | E>Q | No |
ClinGen Ensembl |
|
|
rs1215104033 CA389603947 COSM955950 |
305 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7173454 rs767820176 COSM433097 |
305 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA389603925 rs1257088035 |
306 | I>M | No |
ClinGen gnomAD |
|
|
CA7173435 rs778117440 |
311 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7173433 rs748238826 |
317 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1200312768 CA389603713 |
318 | C>F | No |
ClinGen gnomAD |
|
|
CA389603701 rs1346321141 |
319 | F>L | No |
ClinGen gnomAD |
|
|
rs569827277 CA7173432 |
320 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389603685 rs1306329740 |
320 | I>V | No |
ClinGen gnomAD |
|
|
rs1022710922 CA260656033 |
324 | N>T | No |
ClinGen Ensembl |
|
|
CA389603594 rs1247169206 |
326 | S>L | No |
ClinGen TOPMed |
|
|
CA7173430 rs750190073 |
327 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1477637053 CA389603589 |
327 | S>P | No |
ClinGen TOPMed |
|
|
rs1030207969 CA260656030 |
329 | P>S | No |
ClinGen TOPMed |
|
|
rs1329293481 CA389603557 |
330 | Y>H | No |
ClinGen gnomAD |
|
|
rs148233035 CA7173429 |
334 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7173428 rs757166489 |
336 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA389603457 rs1457376853 |
337 | A>G | No |
ClinGen TOPMed |
|
|
rs753864454 CA7173427 |
340 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368223418 CA7173401 |
345 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389603289 rs368223418 |
345 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
| rs749499721 | 348 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143942881 RCV000912578 CA7173399 |
348 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs375715780 CA7173398 |
349 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7173396 rs201728008 |
350 | C>Y | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs762370242 CA7173394 |
352 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389603162 rs1483360766 |
354 | D>H | No |
ClinGen TOPMed |
|
|
CA389603137 rs1204398089 |
355 | I>T | No |
ClinGen TOPMed |
|
|
rs139001771 CA7173393 |
356 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1221460 CA389600942 rs1469979670 |
360 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs374223196 CA7173380 |
360 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750849311 CA7173379 |
365 | P>S | No |
ClinGen ExAC |
|
|
CA7173378 rs765647908 |
366 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1384329732 CA389600818 |
366 | G>S | No |
ClinGen gnomAD |
|
|
CA7173377 rs762247672 |
367 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA389600772 rs1361960816 |
368 | E>G | No |
ClinGen gnomAD |
|
|
rs764494280 CA389600660 |
373 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764494280 CA7173375 |
373 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764494280 CA389600657 |
373 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173374 rs760820707 |
375 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7173355 COSM2157482 rs754195790 |
381 | L>F | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA389600420 rs754195790 |
381 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7173354 rs764665545 |
382 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389600399 rs1358301025 |
382 | A>V | No |
ClinGen gnomAD |
|
|
CA7173351 rs775660376 |
386 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7173350 rs767539096 |
389 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1594567010 CA389600187 |
391 | Q>R | No |
ClinGen Ensembl |
|
|
rs1181280025 CA389600143 |
393 | V>A | No |
ClinGen gnomAD |
|
|
rs1252998648 CA389600091 |
396 | S>* | No |
ClinGen gnomAD |
|
|
CA389600099 rs1417554607 |
396 | S>T | No |
ClinGen gnomAD |
|
|
rs1436292272 CA389600082 |
397 | V>F | No |
ClinGen TOPMed |
|
|
rs1480859209 CA389600039 |
400 | T>A | No |
ClinGen gnomAD |
|
|
CA389599991 rs1279459158 |
403 | C>Y | No |
ClinGen gnomAD |
|
|
rs754285623 CA7173335 |
408 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7173332 rs534333486 |
413 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA260685779 rs10459504 |
413 | T>P | No |
ClinGen Ensembl |
|
|
CA7173330 rs768062098 |
414 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1677963 rs745916100 CA7173329 |
416 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7173328 rs751584359 |
416 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751584359 CA389637668 |
416 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774466948 CA7173327 |
417 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389637647 rs1318293858 |
418 | D>G | No |
ClinGen gnomAD |
|
|
CA389637631 rs1361420955 |
419 | L>S | No |
ClinGen gnomAD |
|
|
rs150235607 CA260685732 |
421 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1566530108 CA389637588 |
422 | K>T | No |
ClinGen Ensembl |
|
|
CA389637558 rs1461113325 |
423 | M>I | No |
ClinGen gnomAD |
|
|
CA389637565 rs1289598306 COSM1369920 |
423 | M>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA260685726 rs867969163 |
424 | C>F | No |
ClinGen Ensembl |
|
|
CA7173325 rs370945879 |
424 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389637523 rs1179073332 |
425 | R>G | No |
ClinGen Ensembl |
|
|
rs1476086617 CA389637487 |
427 | C>R | No |
ClinGen gnomAD |
|
|
CA7173322 rs775358191 |
428 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260685702 rs944761368 COSM1300630 |
429 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772123320 CA7173321 |
429 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772123320 CA389637446 |
429 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260685697 rs938365532 |
431 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778525306 CA7173319 |
433 | S>N | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7173318 rs770729066 |
434 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270077367 CA389637310 |
436 | A>V | No |
ClinGen gnomAD |
|
|
rs1225882423 CA389637292 |
437 | I>T | No |
ClinGen gnomAD |
|
|
rs777446690 CA7173316 |
438 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7173314 rs111841426 CA7173315 |
440 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260684890 rs919828260 |
442 | V>L | No |
ClinGen TOPMed |
|
|
CA260684881 rs3218790 |
443 | K>* | No |
ClinGen Ensembl |
|
|
CA389636993 rs1566528751 |
445 | I>F | No |
ClinGen Ensembl |
|
|
CA389636990 rs975339851 |
445 | I>N | No |
ClinGen TOPMed |
|
|
CA260684877 rs975339851 |
445 | I>T | No |
ClinGen TOPMed |
|
|
CA389636994 rs1566528751 |
445 | I>V | No |
ClinGen Ensembl |
|
|
rs1234548278 CA389636961 |
448 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1195029072 CA389636926 |
450 | H>R | No |
ClinGen gnomAD |
|
|
rs199793850 CA7173291 |
450 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758474858 CA7173289 |
452 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7173287 VAR_044380 rs34574266 |
456 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1345729861 CA389636860 |
457 | Y>H | No |
ClinGen gnomAD |
|
|
rs752456596 CA7173285 |
459 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA7173286 rs752456596 |
459 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7173283 rs767468396 |
463 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7173282 rs759374420 |
464 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173280 rs539010611 |
467 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7173281 rs539010611 |
467 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61981149 CA260684767 |
468 | A>D | No |
ClinGen gnomAD |
|
|
CA389636724 rs61981149 |
468 | A>G | No |
ClinGen gnomAD |
|
|
CA389636728 rs1293879274 |
468 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 468 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762379944 CA7173278 |
469 | L>F | No |
ClinGen ExAC |
|
|
CA7173277 rs772708908 |
471 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs34000915 RCV000963715 CA7173276 |
472 | Y>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1174946878 CA389636664 |
474 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769049019 CA7173273 |
476 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769049019 CA389636645 |
476 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260684734 rs1021019306 |
478 | L>F | No |
ClinGen Ensembl |
|
|
CA389636596 rs1471326679 |
480 | I>L | No |
ClinGen gnomAD |
|
|
CA260684719 rs909248958 |
481 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7173271 rs780597494 |
488 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758884549 CA7173270 |
489 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs546224864 CA7173269 |
489 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546224864 CA389636531 |
489 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7173268 rs779000974 |
491 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173267 rs757260783 |
492 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751338245 CA7173264 |
493 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7173263 rs751338245 |
493 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7173262 rs766229150 |
494 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs762910629 CA7173261 |
496 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142322471 CA7173260 |
497 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1344103912 CA389636468 |
499 | P>H | No |
ClinGen gnomAD |
|
|
CA7173230 rs763742302 |
500 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389636171 rs1450202054 |
501 | S>C | No |
ClinGen gnomAD |
|
|
rs760269510 CA7173229 |
501 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1350107178 CA389636140 |
503 | P>L | No |
ClinGen TOPMed |
|
|
rs1053314411 CA260682402 |
505 | S>G | No |
ClinGen gnomAD |
|
|
CA389636108 rs1191997159 |
506 | G>R | No |
ClinGen gnomAD |
|
|
rs1266982158 CA389636066 |
508 | S>L | No |
ClinGen gnomAD |
|
|
rs998956417 CA389636039 |
510 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs998956417 CA260682399 |
510 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA260682400 rs998956417 |
510 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7173227 rs774981743 |
510 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 513 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs45515094 CA260682383 VAR_044381 |
514 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA389635958 rs1302165595 |
514 | P>S | No |
ClinGen gnomAD |
|
|
rs759814694 CA7173223 |
516 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7173222 rs774976871 |
516 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs557169102 CA260682342 |
517 | K>N | No |
ClinGen gnomAD |
|
|
CA260682332 rs1043166295 |
518 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7173221 rs576045035 |
519 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs920011907 CA260682302 |
522 | S>T | No |
ClinGen TOPMed |
|
|
rs1566519435 CA389634762 |
523 | K>R | No |
ClinGen Ensembl |
|
|
rs771595682 CA7173196 |
524 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM241211 rs1256767328 CA389634733 |
525 | Q>K | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
No associated diseases with P56282
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| epsilon DNA polymerase complex | A heterotetrameric DNA polymerase complex that catalyzes processive DNA synthesis in the absence of PCNA, but is further stimulated in the presence of PCNA. The complex contains a large catalytic subunit and three small subunits, and is best characterized in Saccharomyces, in which the subunits are named Pol2p, Dpb2p, Dpb3p, and Dpb4p. Some evidence suggests that DNA polymerase epsilon is the leading strand polymerase; it is also involved in nucleotide-excision repair and mismatch repair. |
| 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. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-directed DNA polymerase activity | Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1); the synthesis of DNA from deoxyribonucleotide triphosphates in the presence of a DNA template and a 3'hydroxyl group. |
4 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. |
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| DNA-templated DNA replication | A DNA replication process that uses parental DNA as a template for the DNA-dependent DNA polymerases that synthesize the new strands. |
| error-prone translesion synthesis | The conversion of DNA-damage induced single-stranded gaps into large molecular weight DNA after replication by using a specialized DNA polymerase or replication complex to insert a defined nucleotide across the lesion. This process does not remove the replication-blocking lesions and causes an increase in the endogenous mutation level. For example, in E. coli, a low fidelity DNA polymerase, pol V, copies lesions that block replication fork progress. This produces mutations specifically targeted to DNA template damage sites, but it can also produce mutations at undamaged sites. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPERLRSRA | LSAFKLRGLL | LRGEAIKYLT | EALQSISELE | LEDKLEKIIN | AVEKQPLSSN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MIERSVVEAA | VQECSQSVDE | TIEHVFNIIG | AFDIPRFVYN | SERKKFLPLL | MTNHPAPNLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GTPRDKAEMF | RERYTILHQR | THRHELFTPP | VIGSHPDESG | SKFQLKTIET | LLGSTTKIGD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AIVLGMITQL | KEGKFFLEDP | TGTVQLDLSK | AQFHSGLYTE | ACFVLAEGWF | EDQVFHVNAF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GFPPTEPSST | TRAYYGNINF | FGGPSNTSVK | TSAKLKQLEE | ENKDAMFVFL | SDVWLDQVEV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEKLRIMFAG | YSPAPPTCFI | LCGNFSSAPY | GKNQVQALKD | SLKTLADIIC | EYPDIHQSSR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FVFVPGPEDP | GFGSILPRPP | LAESITNEFR | QRVPFSVFTT | NPCRIQYCTQ | EITVFREDLV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NKMCRNCVRF | PSSNLAIPNH | FVKTILSQGH | LTPLPLYVCP | VYWAYDYALR | VYPVPDLLVI |
| 490 | 500 | 510 | 520 | ||
| ADKYDPFTTT | NTECLCINPG | SFPRSGFSFK | VFYPSNKTVE | DSKLQGF |