P27694
PR
Gene name |
RPA1 (REPA1, RPA70) |
Protein name |
Replication protein A 70 kDa DNA-binding subunit |
Names |
RP-A p70, Replication factor A protein 1, RF-A protein 1, Single-stranded DNA-binding protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6117 |
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
38 structures for P27694
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1EWI | NMR | - | A | 1-114 | PDB |
| 1FGU | X-ray | 250 A | A/B | 182-432 | PDB |
| 1JMC | X-ray | 240 A | A | 181-422 | PDB |
| 1L1O | X-ray | 280 A | C/F | 436-616 | PDB |
| 2B29 | X-ray | 160 A | A | 1-120 | PDB |
| 2B3G | X-ray | 160 A | A | 1-120 | PDB |
| 4IJH | X-ray | 150 A | A | 1-120 | PDB |
| 4IJL | X-ray | 170 A | A | 1-120 | PDB |
| 4IPC | X-ray | 122 A | A | 1-120 | PDB |
| 4IPD | X-ray | 151 A | A | 1-120 | PDB |
| 4IPG | X-ray | 158 A | A | 1-120 | PDB |
| 4IPH | X-ray | 194 A | A | 1-120 | PDB |
| 4LUO | X-ray | 154 A | A | 1-120 | PDB |
| 4LUV | X-ray | 140 A | A | 1-120 | PDB |
| 4LUZ | X-ray | 190 A | A | 1-120 | PDB |
| 4LW1 | X-ray | 163 A | A | 1-120 | PDB |
| 4LWC | X-ray | 161 A | A | 1-120 | PDB |
| 4NB3 | X-ray | 135 A | A/B | 1-120 | PDB |
| 4O0A | X-ray | 120 A | A | 1-120 | PDB |
| 4R4C | X-ray | 140 A | A | 1-120 | PDB |
| 4R4I | X-ray | 140 A | A | 1-120 | PDB |
| 4R4O | X-ray | 133 A | A | 1-120 | PDB |
| 4R4Q | X-ray | 135 A | A | 1-120 | PDB |
| 4R4T | X-ray | 128 A | A | 1-120 | PDB |
| 5E7N | X-ray | 121 A | A | 1-120 | PDB |
| 5EAY | X-ray | 155 A | A/B/C/D | 3-120 | PDB |
| 5N85 | X-ray | 200 A | A | 1-120 | PDB |
| 5N8A | X-ray | 128 A | A | 1-120 | PDB |
| 7XUT | X-ray | 160 A | A/B | 1-121 | PDB |
| 7XUV | X-ray | 160 A | A | 1-120 | PDB |
| 7XUW | X-ray | 180 A | A | 1-121 | PDB |
| 7XV0 | X-ray | 150 A | A | 1-121 | PDB |
| 7XV1 | X-ray | 180 A | A | 1-120 | PDB |
| 7XV4 | X-ray | 160 A | A | 1-120 | PDB |
| 8JZV | X-ray | 150 A | A | 1-120 | PDB |
| 8JZY | X-ray | 150 A | A | 1-120 | PDB |
| 8K00 | X-ray | 140 A | A | 1-120 | PDB |
| AF-P27694-F1 | Predicted | AlphaFoldDB |
495 variants for P27694
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8276021 rs570041689 VAR_086965 |
227 | V>A | PFBMFT6; unknown pathological significance; increased single-stranded DNA binding; increased telomeric DNA binding; has no effect on the formation of canonical replication protein A complex [UniProt] | Yes |
ClinGen 1000Genomes ExAC gnomAD UniProt |
| VAR_086966 | 240 | E>K | PFBMFT6; results in shortened telomeres and impaired hematopoiesis when expressed in iPSC-derived hematopoietic cells; increased single-stranded DNA binding; increased telomeric DNA binding; has no effect on the formation of canonical replication protein A complex [UniProt] | Yes | UniProt |
| VAR_086967 | 270 | T>A | PFBMFT6; unknown pathological significance; has DNA-binding properties similar to the wild-type; has no effect on the formation of canonical replication protein A complex [UniProt] | Yes | UniProt |
|
rs777883793 CA8275748 |
2 | V>F | No |
ClinGen ExAC |
|
|
rs986142679 CA286824242 |
3 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs952968242 CA397573124 |
3 | G>C | No |
ClinGen gnomAD |
|
|
rs986142679 CA397573133 |
3 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA286824233 rs952968242 |
3 | G>S | No |
ClinGen gnomAD |
|
|
rs5030749 CA397573173 |
4 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397573139 rs1395406468 |
4 | Q>K | No |
ClinGen gnomAD |
|
|
rs1440763987 CA397573192 |
6 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1301910097 CA397573224 |
6 | S>I | No |
ClinGen gnomAD |
|
|
CA8275751 rs774560145 |
6 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234103628 CA397573240 |
7 | E>* | No |
ClinGen gnomAD |
|
|
rs1250958096 CA397573255 |
7 | E>D | No |
ClinGen gnomAD |
|
|
CA8275752 rs759600887 |
8 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs965554082 CA286824281 |
9 | A>D | No |
ClinGen gnomAD |
|
|
CA397573291 rs1163887393 |
9 | A>T | No |
ClinGen TOPMed |
|
|
rs965554082 CA397573313 |
9 | A>V | No |
ClinGen gnomAD |
|
|
CA397573327 rs1381711488 |
10 | I>N | No |
ClinGen TOPMed |
|
|
rs1420099438 CA397573319 |
10 | I>V | No |
ClinGen TOPMed |
|
|
CA8275754 rs775945784 |
11 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397577118 rs1597421107 |
14 | M>I | No |
ClinGen Ensembl |
|
|
CA397577113 rs1423944457 |
14 | M>V | No |
ClinGen gnomAD |
|
|
CA8275773 rs556447200 |
17 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA397577146 rs1377749270 |
18 | D>G | No |
ClinGen TOPMed |
|
|
CA286833758 rs960070191 |
18 | D>Y | No |
ClinGen TOPMed |
|
|
CA397577169 rs1302792384 |
21 | I>M | No |
ClinGen TOPMed |
|
|
rs1448087108 CA397577180 |
23 | P>A | No |
ClinGen TOPMed |
|
|
rs1448087108 CA397577179 |
23 | P>S | No |
ClinGen TOPMed |
|
|
CA397577184 rs1397149208 |
24 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1458831946 CA397577202 |
25 | L>H | No |
ClinGen gnomAD |
|
|
CA8275774 rs769039530 |
27 | V>I | No |
ClinGen ExAC gnomAD |
|
| rs916030640 | 28 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777110403 CA8275775 |
28 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767278367 CA8275799 |
31 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1238804059 CA397578286 |
31 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1286058622 CA397578382 |
35 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs775200783 CA8275800 |
37 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA397578427 rs1208250273 |
38 | S>G | No |
ClinGen gnomAD |
|
|
rs760084921 CA8275801 |
38 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs764134040 CA8275802 |
39 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757098924 CA8275804 |
40 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757098924 CA8275805 |
40 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758675207 CA8275807 |
41 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs780226221 CA8275808 |
42 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360031402 CA397578552 |
43 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA397578599 rs1479941735 |
45 | L>P | No |
ClinGen TOPMed |
|
|
CA397578638 rs1370952686 |
46 | M>I | No |
ClinGen gnomAD |
|
|
CA8275810 rs747150308 |
46 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397578722 rs1309951856 |
49 | G>A | No |
ClinGen gnomAD |
|
|
rs372026366 CA286834827 |
49 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8275811 rs754968818 |
51 | N>S | No |
ClinGen ExAC |
|
|
rs781732764 CA8275813 |
52 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs748543005 CA8275814 |
52 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8275816 rs778351700 |
53 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs372704235 CA8275837 |
58 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8275838 rs756745134 |
59 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286835356 rs903933604 |
61 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8275840 rs749714506 |
63 | N>H | No |
ClinGen ExAC |
|
|
CA397579277 rs1224471154 |
64 | P>T | No |
ClinGen gnomAD |
|
|
CA397579340 rs1475154953 |
66 | V>M | No |
ClinGen gnomAD |
|
|
CA8275843 rs746586892 |
68 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768217681 CA8275844 |
69 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761361601 CA8275846 |
70 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325469305 CA397579612 |
72 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1325469305 CA397579617 |
72 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 72 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397579712 rs1429458685 |
74 | N>S | No |
ClinGen gnomAD |
|
|
rs1597422824 CA397579722 |
75 | C>S | No |
ClinGen Ensembl |
|
|
rs1292876355 CA397579740 |
75 | C>W | No |
ClinGen TOPMed |
|
| TCGA novel | 77 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567803571 CA397579787 |
77 | C>S | No |
ClinGen Ensembl |
|
|
CA8275850 rs766103262 |
80 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA8275852 rs759747102 |
80 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs766103262 CA8275851 |
80 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767769316 CA8275853 |
82 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8275854 rs752773475 |
83 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397579969 rs1213809143 |
86 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs754348776 CA8275857 |
87 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA397580012 rs1187542931 |
88 | K>R | No |
ClinGen gnomAD |
|
|
rs1411457047 CA397580034 |
90 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748785852 CA8275884 |
93 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs553472326 CA8275885 |
94 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8275888 rs199998753 |
98 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8275887 rs745684143 |
98 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8275890 rs775867881 |
105 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1057051634 CA286841303 |
106 | E>K | No |
ClinGen TOPMed |
|
|
CA397582033 rs1457193252 |
108 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200742050 CA8275892 |
108 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8275893 rs776899154 |
109 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8275894 rs761951170 |
110 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 111 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8275896 rs750892999 |
112 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8275897 rs371452640 |
115 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181652461 CA397582096 |
115 | P>S | No |
ClinGen TOPMed |
|
|
rs766696018 CA8275898 |
116 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397582114 rs1405265362 |
117 | P>S | No |
ClinGen gnomAD |
|
|
CA397582128 rs1488143769 |
118 | Y>C | No |
ClinGen TOPMed |
|
|
CA8275899 rs751915350 |
118 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA397582136 rs1401730606 |
119 | N>D | No |
ClinGen gnomAD |
|
|
CA397582154 rs1440835891 |
120 | E>A | No |
ClinGen gnomAD |
|
|
rs747566361 CA8275900 |
121 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1487064997 CA397551933 |
122 | L>F | No |
ClinGen gnomAD |
|
|
CA8275931 rs768521178 |
123 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA286817091 rs905403945 |
125 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8275933 rs781578904 |
125 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358739794 CA397552105 |
128 | A>P | No |
ClinGen gnomAD |
|
|
CA397552133 rs1384185104 |
128 | A>V | No |
ClinGen TOPMed |
|
|
rs1402030559 CA397552173 |
129 | P>L | No |
ClinGen gnomAD |
|
|
CA397552185 rs1299089490 |
130 | P>S | No |
ClinGen gnomAD |
|
|
rs577689051 CA8275934 |
131 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1310466852 CA397552294 |
133 | A>T | No |
ClinGen gnomAD |
|
|
CA8275939 rs762917348 |
134 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1187304739 CA397552347 |
135 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1284635352 CA397552425 |
137 | A>E | No |
ClinGen gnomAD |
|
|
rs774802762 CA8275941 |
139 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1286371250 CA397552573 |
140 | S>R | No |
ClinGen gnomAD |
|
|
CA397552626 rs1597445738 |
141 | R>S | No |
ClinGen Ensembl |
|
|
rs1470071804 CA397552646 |
142 | P>S | No |
ClinGen TOPMed |
|
|
rs1037678691 CA286817107 |
144 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1258709789 CA397552832 |
145 | Q>* | No |
ClinGen gnomAD |
|
|
rs370337203 CA8275943 |
148 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753437800 CA8275944 |
149 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1172383 CA8275946 rs764785914 |
150 | G>E | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs764785914 CA397553104 |
150 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1230507918 CA397555071 |
152 | G>V | No |
ClinGen gnomAD |
|
|
rs145953310 CA8275970 |
154 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8275971 rs755020262 |
154 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs145953310 CA397555107 |
154 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8275973 rs752573944 |
155 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA286818866 rs888680530 |
155 | V>L | No |
ClinGen Ensembl |
|
|
CA286818874 rs1007090785 |
156 | S>A | No |
ClinGen Ensembl |
|
|
rs12449332 CA286818878 |
156 | S>F | No |
ClinGen Ensembl |
|
|
CA8275974 rs139462896 |
158 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149840201 CA8275975 |
158 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367869356 CA8275976 |
159 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397555291 rs372061337 |
160 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8275978 rs372061337 |
160 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8275977 rs757338286 |
160 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218466906 CA397555350 |
163 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1567819568 CA397555630 |
170 | G>D | No |
ClinGen Ensembl |
|
|
CA8275979 rs745936678 |
171 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8275982 rs747420470 |
175 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA397555797 rs1487573955 |
175 | H>Q | No |
ClinGen gnomAD |
|
|
rs1231376651 CA397555825 |
176 | T>I | No |
ClinGen TOPMed |
|
|
CA397555823 rs1231376651 |
176 | T>N | No |
ClinGen TOPMed |
|
|
rs1426220623 CA397556020 |
181 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA397556120 rs1303235273 |
184 | V>M | No |
ClinGen TOPMed |
|
|
CA8275984 rs772922108 |
185 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1421250533 CA397556175 |
186 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1421250533 CA397556173 |
186 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8275985 rs528013129 |
188 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8275986 rs770690221 |
190 | L>F | No |
ClinGen ExAC |
|
|
CA397556334 rs1329518732 |
191 | T>S | No |
ClinGen gnomAD |
|
|
CA397556401 rs1345680426 |
194 | Q>L | No |
ClinGen gnomAD |
|
| rs770743630 | 196 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353142070 CA397557332 |
198 | T>S | No |
ClinGen gnomAD |
|
|
CA397557344 rs780359272 |
199 | I>S | No |
ClinGen TOPMed |
|
|
CA286819783 rs780359272 |
199 | I>T | No |
ClinGen TOPMed |
|
|
rs774104695 CA8276007 |
199 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA397557371 rs1261412604 |
201 | A>P | No |
ClinGen TOPMed |
|
|
CA8276008 rs759142510 |
202 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8276010 rs201881937 |
202 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201881937 CA286819798 |
202 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8276009 rs201881937 |
202 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1567820421 CA397557401 |
203 | V>A | No |
ClinGen Ensembl |
|
|
CA8276011 rs760596122 |
204 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8276012 rs764083881 |
206 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1597449367 CA397557456 |
206 | K>R | No |
ClinGen Ensembl |
|
|
rs1471744812 CA397557498 |
208 | Q>* | No |
ClinGen gnomAD |
|
|
CA8276013 rs747548683 |
210 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761567513 CA8276014 COSM1224171 |
210 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA397557550 rs761567513 |
210 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397557600 rs1362128921 |
213 | S>N | No |
ClinGen gnomAD |
|
|
CA286819809 rs1029882563 |
214 | N>T | No |
ClinGen TOPMed |
|
|
rs750584253 CA8276016 |
216 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758506055 CA286819826 |
216 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758506055 CA8276017 |
216 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397557685 CA397557684 rs751641978 |
218 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1316404846 CA397557674 |
218 | E>K | No |
ClinGen gnomAD |
|
|
CA286819840 rs755486139 |
222 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA397557735 rs1290146395 |
226 | L>P | No |
ClinGen TOPMed |
|
|
rs770232450 CA8276023 |
229 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1440533127 CA397557750 |
229 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779729281 CA397558834 |
234 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8276047 rs779729281 |
234 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8276048 rs528435249 |
234 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8276049 rs148555139 |
236 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8276050 rs776552291 |
237 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748147819 CA8276051 |
239 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA397558978 rs1339455042 |
239 | N>S | No |
ClinGen gnomAD |
|
|
rs916648829 CA286820964 |
240 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 240 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397559109 rs1445472357 |
243 | D>E | No |
ClinGen TOPMed |
|
|
rs769702090 CA8276052 |
243 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1444195309 CA397559116 |
244 | K>Q | No |
ClinGen gnomAD |
|
|
CA8276053 rs370712919 |
244 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 245 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201772445 CA286820972 |
247 | P>S | No |
ClinGen 1000Genomes |
|
|
CA397559259 rs949393682 |
248 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA397559264 rs1477071199 |
248 | L>R | No |
ClinGen gnomAD |
|
|
CA286820976 rs949393682 |
248 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766540306 CA8276055 |
249 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457855299 CA397559310 |
250 | E>G | No |
ClinGen gnomAD |
|
|
rs1597450860 CA397559329 |
251 | V>A | No |
ClinGen Ensembl |
|
|
CA8276056 rs201066045 |
252 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393009618 CA397559419 |
253 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA397559653 rs1597451055 |
254 | V>G | No |
ClinGen Ensembl |
|
|
rs1290649227 CA397559662 |
255 | Y>D | No |
ClinGen gnomAD |
|
|
CA397559658 rs1290649227 |
255 | Y>N | No |
ClinGen gnomAD |
|
|
rs184685598 CA8276087 |
258 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364131603 CA397559806 |
260 | G>D | No |
ClinGen gnomAD |
|
|
CA397559827 rs1263976057 |
262 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397559858 rs1408136548 |
263 | K>N | No |
ClinGen gnomAD |
|
|
rs1362351723 CA397559988 |
267 | K>E | No |
ClinGen TOPMed |
|
|
rs1330044108 CA397560009 |
267 | K>R | No |
ClinGen gnomAD |
|
|
CA8276091 rs770771157 |
269 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397560241 rs1311959429 |
274 | N>S | No |
ClinGen gnomAD |
|
|
rs1197315638 CA397560280 |
275 | D>G | No |
ClinGen TOPMed |
|
|
rs745637747 CA8276093 |
276 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs142484748 CA8276094 |
277 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775818557 CA8276095 |
279 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8276097 rs768801004 |
281 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8276103 rs763263433 |
286 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8276101 rs55800538 |
286 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8276102 COSM1381218 rs55800538 |
286 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8276104 rs767177806 COSM1493868 |
287 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA286821204 rs550465653 |
287 | M>V | No |
ClinGen Ensembl |
|
|
rs755623911 CA8276106 |
289 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8276107 rs78419656 |
289 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8276108 rs78419656 |
289 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8276109 rs140454438 |
290 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8276110 rs778685783 |
291 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780440388 CA8276113 |
292 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8276112 rs41547814 |
292 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1285526444 CA397561097 |
294 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs747165608 CA8276114 |
294 | H>Y | No |
ClinGen ExAC |
|
|
CA8276115 rs368530033 |
295 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776817901 CA8276116 |
297 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748142186 CA8276117 |
297 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8276118 rs770360768 |
299 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1253795798 CA397561315 |
300 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8276119 rs188010364 |
303 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8276121 rs572922444 |
304 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1270751470 CA397561437 |
305 | I>S | No |
ClinGen gnomAD |
|
|
rs781174316 CA286821326 |
307 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8276123 rs760379749 |
307 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756682353 CA8276126 |
309 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906703186 CA286821361 |
310 | N>Y | No |
ClinGen TOPMed |
|
|
rs1348815994 CA397561589 |
311 | K>T | No |
ClinGen gnomAD |
|
|
CA397561610 rs1422331116 |
312 | S>L | No |
ClinGen gnomAD |
|
|
rs1484038739 CA397561711 |
317 | V>I | No |
ClinGen TOPMed |
|
|
rs777886740 CA8276154 |
320 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8276156 rs771469670 |
321 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8276157 rs779352401 |
322 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1156498089 CA397562076 |
325 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1438643035 CA397562072 |
325 | S>T | No |
ClinGen gnomAD |
|
|
CA397562094 rs1410579732 |
326 | Y>F | No |
ClinGen gnomAD |
|
|
rs1455082802 CA397562161 COSM976153 |
329 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA397562171 rs1337414967 |
329 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1376312982 CA397562206 |
330 | T>N | No |
ClinGen gnomAD |
|
|
rs940712026 CA286821467 |
331 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 331 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906924305 CA286821468 |
332 | I>T | No |
ClinGen TOPMed |
|
|
rs761441868 CA8276161 |
334 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281554835 CA397562412 |
335 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1281554835 CA397562426 |
335 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA397562461 rs1436688950 |
337 | N>D | No |
ClinGen TOPMed |
|
|
CA8276163 rs772886120 |
337 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1262287245 CA397562543 |
339 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1262287245 CA397562541 |
339 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762508933 CA8276164 |
341 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8276165 rs766438119 |
342 | A>S | No |
ClinGen ExAC |
|
|
CA8276166 rs376382610 |
344 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759379338 CA8276167 |
345 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA286821532 rs759379338 |
345 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767281115 CA8276168 |
350 | D>N | No |
ClinGen ExAC |
|
|
CA8276169 VAR_019236 rs5030755 |
351 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777942778 CA8276171 |
353 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs995504570 CA286821565 |
353 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777942778 CA397562953 |
353 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs753950374 CA8276172 |
355 | V>A | No |
ClinGen ExAC |
|
|
CA8276173 rs757279483 |
356 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs779409504 CA397563040 |
357 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779409504 CA8276174 |
357 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8276176 rs772631091 |
359 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA397563138 rs747365167 |
361 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8276178 rs747365167 |
361 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA8276177 rs780343281 |
361 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs762562357 CA8276181 |
362 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8276179 rs769598873 CA8276180 |
362 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567822315 | 363 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343462940 CA397563241 |
364 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA397564542 rs1427212709 |
365 | A>D | No |
ClinGen gnomAD |
|
|
rs149293156 CA286822049 |
365 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA397564572 rs1373686986 |
366 | D>G | No |
ClinGen gnomAD |
|
|
rs1027723036 CA286822052 |
366 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 367 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397564643 rs1393290642 |
369 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA397564709 rs1367622156 |
371 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1161890280 CA397564695 |
371 | S>P | No |
ClinGen gnomAD |
|
|
rs886732811 CA286822067 |
372 | R>I | No |
ClinGen TOPMed |
|
|
CA8276204 rs771934230 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8276206 rs771754941 |
375 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8276207 rs763813560 |
377 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8276208 rs776408072 |
379 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312280060 CA397564943 |
380 | G>E | No |
ClinGen gnomAD |
|
|
CA8276209 rs762084566 |
380 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8276210 rs765478269 |
381 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260484801 CA397564989 |
382 | R>* | No |
ClinGen gnomAD |
|
|
rs750496171 CA8276211 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8276212 rs758450870 |
385 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1181788068 CA397565145 |
387 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752043233 CA8276214 |
388 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8276217 rs369282944 |
389 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202068855 CA8276216 |
389 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397565219 rs1290422463 |
390 | S>G | No |
ClinGen gnomAD |
|
|
rs756898907 CA8276219 |
391 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1597452521 CA397565303 |
393 | V>M | No |
ClinGen Ensembl |
|
|
rs1411938564 CA397565332 |
394 | L>P | No |
ClinGen TOPMed |
|
|
rs1384429944 CA397565425 |
397 | S>G | No |
ClinGen gnomAD |
|
|
rs1200807379 CA397565457 |
397 | S>R | No |
ClinGen TOPMed |
|
|
rs1452882290 CA397565497 |
399 | I>V | No |
ClinGen gnomAD |
|
|
CA8276222 rs145496665 |
400 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397565552 rs1261683316 |
401 | A>E | No |
ClinGen gnomAD |
|
|
rs369933783 CA8276224 |
401 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397565602 rs1447858745 |
403 | P>R | No |
ClinGen TOPMed |
|
|
CA397565591 rs1202377392 |
403 | P>S | No |
ClinGen gnomAD |
|
|
CA8276226 rs776463055 |
405 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs765395946 CA8276228 |
406 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1176819979 CA397565663 |
406 | P>S | No |
ClinGen gnomAD |
|
|
rs118083254 CA8276229 |
408 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397565715 rs1203513143 |
410 | K>R | No |
ClinGen TOPMed |
|
|
rs1263783009 CA397565740 |
412 | R>C | No |
ClinGen TOPMed |
|
|
rs764606507 COSM1224172 CA8276231 |
412 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA397565750 rs1469211768 |
413 | G>R | No |
ClinGen gnomAD |
|
|
CA397567252 rs1567824676 |
415 | F>I | No |
ClinGen Ensembl |
|
|
rs534687363 CA8276254 |
417 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA286824395 rs912638575 |
420 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs187511734 CA397567430 |
421 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187511734 CA8276256 |
421 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA286824406 rs200646646 |
421 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8276255 rs200646646 |
421 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8276257 rs758121260 |
426 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779654562 CA8276258 |
426 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397567597 rs779654562 |
426 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397567626 rs1597455155 |
427 | I>T | No |
ClinGen Ensembl |
|
|
rs1489925272 CA397567622 |
427 | I>V | No |
ClinGen gnomAD |
|
|
rs376784428 CA8276261 |
433 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201226474 CA8276263 COSM1381221 |
434 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
TCGA novel rs771309470 CA8276266 |
436 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA397567829 rs1350883972 |
437 | G>E | No |
ClinGen gnomAD |
|
|
CA8276268 rs142406311 |
437 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM298207 CA397567825 rs142406311 |
437 | G>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8276269 rs199722600 |
438 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1597455251 CA397567860 |
438 | S>R | No |
ClinGen Ensembl |
|
|
rs746131973 CA286824493 |
439 | N>D | No |
ClinGen Ensembl |
|
|
CA8276270 rs775708368 |
440 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8276271 rs761305995 |
440 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1215179319 CA397567927 |
441 | N>S | No |
ClinGen gnomAD |
|
|
rs764488383 CA8276272 |
442 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA286824519 rs1013738941 |
446 | Y>C | No |
ClinGen TOPMed |
|
|
CA397568111 rs1597455305 |
448 | V>I | No |
ClinGen Ensembl |
|
|
CA8276273 rs370863765 |
450 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8276275 rs766029943 |
451 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767069284 CA8276278 |
454 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8276277 rs754617982 |
454 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8276279 rs752125478 |
456 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8276281 rs777531929 |
457 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141166851 CA286827699 |
459 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA397571101 rs1262499877 |
461 | Y>S | No |
ClinGen gnomAD |
|
|
rs748708303 CA8276310 |
465 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150901352 CA8276311 |
466 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM976172 rs1167758454 CA397571220 |
468 | V>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA397571210 rs1187227083 |
468 | V>L | No |
ClinGen gnomAD |
|
|
CA8276312 rs773604164 |
469 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs908636007 CA286827741 |
471 | L>R | No |
ClinGen Ensembl |
|
|
CA8276313 rs763263141 |
471 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8276314 rs139432886 |
472 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8276315 rs774947057 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1597458964 CA397571335 |
473 | K>Q | No |
ClinGen Ensembl |
|
|
CA8276319 rs763579522 |
479 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397571465 rs1395921565 |
480 | A>P | No |
ClinGen gnomAD |
|
|
rs746929608 CA8276320 |
482 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8276322 rs765237444 |
483 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750277029 CA8276323 |
485 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758222279 CA8276324 |
487 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs971568313 CA286827793 |
487 | N>K | No |
ClinGen TOPMed |
|
|
rs1597459034 CA397571568 |
488 | K>R | No |
ClinGen Ensembl |
|
|
CA8276325 rs780341309 |
490 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA397571605 rs1381205670 |
491 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA286827807 rs867341966 |
493 | Q>* | No |
ClinGen Ensembl |
|
|
rs1274906394 CA397571635 |
493 | Q>R | No |
ClinGen gnomAD |
|
|
CA397571655 rs1394194110 |
494 | Q>H | No |
ClinGen gnomAD |
|
|
rs1368650376 CA397571650 |
494 | Q>R | No |
ClinGen TOPMed |
|
|
rs751791812 CA8276326 |
499 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147707606 CA8276327 |
499 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1351400065 CA397571763 |
502 | K>M | No |
ClinGen TOPMed |
|
|
rs781175616 CA8276328 |
503 | C>Y | No |
ClinGen ExAC |
|
|
CA8276330 rs770316462 |
504 | D>N | No |
ClinGen ExAC |
|
|
rs1267239400 CA397571812 |
506 | E>K | No |
ClinGen gnomAD |
|
|
CA8276332 rs749665402 |
506 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471297563 CA397571826 |
507 | F>L | No |
ClinGen TOPMed |
|
|
rs771134714 CA8276333 |
509 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs369839528 CA397571870 |
510 | F>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs760303839 CA8276335 |
511 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8276336 rs768334170 |
513 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8276337 rs143105728 COSM1381224 |
513 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143105728 CA397571898 |
513 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397571908 rs1567827394 |
514 | M>V | No |
ClinGen Ensembl |
|
|
rs761370598 CA8276338 |
515 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1597459128 CA397571959 |
516 | L>P | No |
ClinGen Ensembl |
|
|
CA397571973 rs1267596867 |
517 | S>* | No |
ClinGen TOPMed |
|
|
rs768226366 CA8276355 |
518 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201697182 CA8276357 |
523 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769367140 CA8276358 |
525 | E>D | No |
ClinGen ExAC |
|
|
CA397573634 rs1260538686 |
528 | W>* | No |
ClinGen gnomAD |
|
|
rs772830904 CA8276359 |
530 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397573651 rs1397437015 |
531 | C>Y | No |
ClinGen TOPMed |
|
|
CA397573665 rs1211182209 |
533 | Q>E | No |
ClinGen gnomAD |
|
|
CA8276360 rs762843865 |
535 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA8276361 rs370975795 |
535 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397573684 rs1464106899 |
536 | A>T | No |
ClinGen TOPMed |
|
|
rs1002545871 CA286829833 |
538 | A>G | No |
ClinGen TOPMed |
|
|
rs759325882 CA8276363 |
539 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397573711 rs1424643092 |
540 | L>F | No |
ClinGen gnomAD |
|
|
CA397573717 rs1473697179 |
541 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 542 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8276364 rs146403373 |
544 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 549 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM436140 CA286829865 rs989001720 |
549 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA8276366 rs756325374 |
552 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA397574926 rs1275904912 |
555 | E>G | No |
ClinGen gnomAD |
|
|
CA8276387 rs148923182 |
556 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8276388 rs200760552 |
557 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397574957 rs1303458910 |
557 | A>V | No |
ClinGen gnomAD |
|
|
CA397575119 rs1228063146 |
564 | N>K | No |
ClinGen TOPMed |
|
|
rs1484162674 CA397575209 |
568 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs556414801 CA286832294 |
568 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556414801 CA8276391 |
568 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780610405 CA8276392 |
569 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA397575251 rs1490160111 |
570 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs939960620 CA397575252 |
571 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs939960620 CA286832295 |
571 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397575308 rs1193132739 |
573 | R>I | No |
ClinGen gnomAD |
|
|
rs370286562 CA8276393 |
574 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397575389 rs1169154697 |
576 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA397575393 rs1169154697 |
576 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1597463831 CA397575403 |
577 | K>E | No |
ClinGen Ensembl |
|
|
rs1431275142 CA397575466 |
579 | E>D | No |
ClinGen gnomAD |
|
|
CA397575445 rs1189032407 |
579 | E>K | No |
ClinGen TOPMed |
|
|
rs552012556 CA8276395 |
580 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748753709 CA8276397 |
581 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1434939430 CA397575534 |
582 | N>D | No |
ClinGen gnomAD |
|
| rs879302106 | 583 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471623602 CA397576820 |
585 | S>A | No |
ClinGen gnomAD |
|
|
CA286834702 rs575124540 |
586 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575124540 CA8276419 |
586 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397576850 rs1417571895 |
587 | I>S | No |
ClinGen TOPMed |
|
|
CA397576844 rs1400604913 |
587 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8276420 rs746809055 |
590 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397576894 rs1390913998 |
591 | V>M | No |
ClinGen gnomAD |
|
|
rs540562046 CA8276421 |
592 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371704414 CA8276424 |
594 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397576936 rs762158042 |
594 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8276423 rs762158042 |
594 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867853980 CA286834735 |
596 | P>L | No |
ClinGen gnomAD |
|
|
CA397576953 CA397576952 rs374059430 |
597 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8276426 rs374059430 |
597 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286317642 CA397576963 |
598 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA397576969 rs1022198875 |
599 | Y>C | No |
ClinGen gnomAD |
|
|
CA286834743 rs1022198875 |
599 | Y>F | No |
ClinGen gnomAD |
|
|
CA397576974 rs1197169587 |
600 | R>K | No |
ClinGen TOPMed |
|
|
rs752057496 CA8276428 |
601 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA397576989 rs1440317889 |
602 | Y>C | No |
ClinGen gnomAD |
|
|
CA397576994 rs1211849693 |
603 | G>S | No |
ClinGen gnomAD |
|
|
CA286834771 rs865781874 |
604 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8276429 rs760108746 |
606 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA397577012 rs1224063631 |
606 | L>V | No |
ClinGen gnomAD |
|
|
rs866811498 CA286834798 |
607 | V>A | No |
ClinGen Ensembl |
|
|
CA397577024 rs1473224903 |
608 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1414750558 CA397577021 |
608 | M>V | No |
ClinGen gnomAD |
|
|
CA286834814 rs868790010 |
609 | S>G | No |
ClinGen Ensembl |
|
|
rs1400206154 CA397577040 |
610 | I>T | No |
ClinGen gnomAD |
|
|
rs1335167319 CA397577050 |
612 | R>G | No |
ClinGen gnomAD |
|
|
CA8276433 rs756981847 |
614 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397577083 rs1274950820 |
616 | M>I | No |
ClinGen Ensembl |
|
|
CA397577081 rs1597465867 |
616 | M>T | No |
ClinGen Ensembl |
1 associated diseases with P27694
[MIM: 619767]: Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 6 (PFBMFT6)
An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. {ECO:0000269|PubMed:34767620}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. {ECO:0000269|PubMed:34767620}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P27694
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type | 197 - 281 | IPR004365 |
| domain | Replication factor-A protein 1, N-terminal | 5 - 104 | IPR007199 |
| domain | Replication factor A, C-terminal | 461 - 606 | IPR013955 |
| domain | Replication protein A, OB domain | 305 - 402 | IPR031657 |
| domain | Replication factor A, C-terminal, eukaryotes | 447 - 611 | IPR047192 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| DNA replication factor A complex | A conserved heterotrimeric complex that binds nonspecifically to single-stranded DNA and is required for multiple processes in eukaryotic DNA metabolism, including DNA replication, DNA repair, and recombination. In all eukaryotic organisms examined the complex is composed of subunits of approximately 70, 30, and 14 kDa. |
| 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. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| damaged DNA binding | Binding to damaged DNA. |
| G-rich strand telomeric DNA binding | Binding to G-rich, single-stranded, telomere-associated DNA. |
| metal ion binding | Binding to a metal ion. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
| single-stranded telomeric DNA binding | Binding to single-stranded telomere-associated DNA. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair | In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| 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 unwinding involved in DNA replication | The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication. |
| 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. |
| double-strand break repair via homologous recombination | The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| protein localization to chromosome | Any process in which a protein is transported to, or maintained at, a specific location on a chromosome. |
| telomere maintenance | Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. |
| telomere maintenance via telomerase | The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P22336 | RFA1 | Replication factor A protein 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q5ZJJ2 | RPA1 | Replication protein A 70 kDa DNA-binding subunit | Gallus gallus (Chicken) | PR |
| Q24492 | RpA-70 | Replication protein A 70 kDa DNA-binding subunit | Drosophila melanogaster (Fruit fly) | PR |
| Q8VEE4 | Rpa1 | Replication protein A 70 kDa DNA-binding subunit | Mus musculus (Mouse) | PR |
| Q10Q08 | RPA1B | Replication protein A 70 kDa DNA-binding subunit B | Oryza sativa subsp japonica (Rice) | PR |
| Q19537 | rpa-1 | Probable replication factor A 73 kDa subunit | Caenorhabditis elegans | PR |
| F4JSG3 | RPA1E | Replication protein A 70 kDa DNA-binding subunit E | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SKI4 | RPA1A | Replication protein A 70 kDa DNA-binding subunit A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5FW17 | rpa1 | Replication protein A 70 kDa DNA-binding subunit | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVGQLSEGAI | AAIMQKGDTN | IKPILQVINI | RPITTGNSPP | RYRLLMSDGL | NTLSSFMLAT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QLNPLVEEEQ | LSSNCVCQIH | RFIVNTLKDG | RRVVILMELE | VLKSAEAVGV | KIGNPVPYNE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLGQPQVAPP | APAASPAASS | RPQPQNGSSG | MGSTVSKAYG | ASKTFGKAAG | PSLSHTSGGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSKVVPIASL | TPYQSKWTIC | ARVTNKSQIR | TWSNSRGEGK | LFSLELVDES | GEIRATAFNE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVDKFFPLIE | VNKVYYFSKG | TLKIANKQFT | AVKNDYEMTF | NNETSVMPCE | DDHHLPTVQF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DFTGIDDLEN | KSKDSLVDII | GICKSYEDAT | KITVRSNNRE | VAKRNIYLMD | TSGKVVTATL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WGEDADKFDG | SRQPVLAIKG | ARVSDFGGRS | LSVLSSSTII | ANPDIPEAYK | LRGWFDAEGQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALDGVSISDL | KSGGVGGSNT | NWKTLYEVKS | ENLGQGDKPD | YFSSVATVVY | LRKENCMYQA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CPTQDCNKKV | IDQQNGLYRC | EKCDTEFPNF | KYRMILSVNI | ADFQENQWVT | CFQESAEAIL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GQNAAYLGEL | KDKNEQAFEE | VFQNANFRSF | IFRVRVKVET | YNDESRIKAT | VMDVKPVDYR |
| 610 | |||||
| EYGRRLVMSI | RRSALM |