Q6B0B8
PR
Gene name |
TIGD3 |
Protein name |
Tigger transposable element-derived protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:220359 |
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
1 structures for Q6B0B8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6B0B8-F1 | Predicted | AlphaFoldDB |
422 variants for Q6B0B8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA223948206 rs906977854 |
2 | E>G | No |
ClinGen Ensembl |
|
|
rs776610460 CA223948204 |
2 | E>K | No |
ClinGen Ensembl |
|
|
CA381236733 rs1287718259 |
5 | S>G | No |
ClinGen gnomAD |
|
|
CA381236743 rs1430459570 |
5 | S>N | No |
ClinGen gnomAD |
|
|
rs1224864861 CA381236821 |
7 | K>N | No |
ClinGen gnomAD |
|
|
CA6095514 rs781458690 |
8 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs773003096 | 8 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6095515 rs750667316 |
10 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1263465047 CA381236879 |
11 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 13 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6095519 rs771928340 |
16 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA381236956 rs1484438585 |
16 | E>K | No |
ClinGen TOPMed |
|
|
CA381237012 rs1490974408 |
18 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA381237009 rs1490974408 |
18 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6095521 rs747007665 |
19 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs572592205 CA6095522 |
20 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6095523 rs776179323 |
21 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6095524 rs745393854 |
26 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1014742783 CA223948232 |
27 | S>F | No |
ClinGen Ensembl |
|
|
COSM3810041 rs775154328 CA6095526 |
28 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs769368019 CA6095525 |
28 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223948237 rs961860363 |
29 | M>I | No |
ClinGen Ensembl |
|
|
rs1213777665 CA381237194 |
29 | M>T | No |
ClinGen TOPMed |
|
|
rs763177779 CA6095527 |
29 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA381237203 rs1406645954 |
30 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs764565150 CA6095528 |
31 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223948240 rs997373333 |
31 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6095529 rs774685429 |
32 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223948244 rs201019323 |
36 | R>G | No |
ClinGen Ensembl |
|
|
rs370523148 CA6095531 |
37 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381237249 rs1339629549 |
38 | F>C | No |
ClinGen gnomAD |
|
|
rs756295625 CA6095533 |
39 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1362262958 CA381237261 |
40 | V>F | No |
ClinGen gnomAD |
|
|
rs771125640 CA223948250 |
41 | S>F | No |
ClinGen gnomAD |
|
|
CA6095534 rs766663870 |
42 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs754143350 CA6095535 |
44 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095536 rs758098019 |
46 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240625600 CA381237305 |
47 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA223948255 rs981206147 |
50 | K>E | No |
ClinGen TOPMed |
|
|
rs746909613 CA6095538 |
51 | N>S | No |
ClinGen ExAC |
|
|
CA381237447 rs1346474896 |
56 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6095540 rs781110481 |
57 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA381237474 rs1590614299 |
58 | D>G | No |
ClinGen Ensembl |
|
|
rs745340625 CA6095541 |
58 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095542 COSM690027 rs745340625 |
58 | D>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6095543 rs746158899 |
59 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590614306 CA381237510 |
60 | C>G | No |
ClinGen Ensembl |
|
|
rs749006059 CA6095544 |
61 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095546 rs142471374 |
62 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381237554 rs1318395800 |
63 | T>A | No |
ClinGen TOPMed |
|
|
CA381237557 rs1259711828 |
63 | T>I | No |
ClinGen TOPMed |
|
|
CA6095548 rs540819419 |
65 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1385369033 CA381237588 |
66 | R>P | No |
ClinGen gnomAD |
|
|
rs773882274 CA6095549 |
67 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs760820136 CA6095551 |
68 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760820136 CA6095550 |
68 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095552 rs754003029 |
69 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6095553 rs144643341 |
70 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6095554 rs144643341 |
70 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6095555 rs138275061 |
71 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138275061 CA223948288 |
71 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757073222 CA6095556 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298167324 CA381237693 |
72 | R>W | No |
ClinGen TOPMed |
|
|
CA381237704 rs1243540590 |
73 | E>K | No |
ClinGen gnomAD |
|
|
CA223948293 rs988363633 |
74 | S>A | No |
ClinGen Ensembl |
|
|
rs149604674 CA223948295 |
75 | K>Q | No |
ClinGen ESP TOPMed |
|
|
CA6095557 rs781057467 |
75 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6095559 rs554447515 |
78 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381237798 rs554447515 |
78 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454226820 CA381237795 |
78 | G>W | No |
ClinGen gnomAD |
|
|
rs1165031830 CA381237837 |
80 | D>E | No |
ClinGen TOPMed |
|
|
CA381237815 rs371000220 |
80 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371000220 CA6095562 |
80 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381237864 rs1425096849 |
82 | A>V | No |
ClinGen TOPMed |
|
|
rs928366824 CA223948305 |
83 | L>V | No |
ClinGen Ensembl |
|
|
CA6095564 rs748478122 |
84 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA381237904 rs1312432952 |
85 | C>Y | No |
ClinGen gnomAD |
|
|
rs772618144 CA6095565 COSM930386 |
86 | W>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6095566 rs773829184 |
90 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA381238015 rs1194469778 |
90 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6095567 rs773829184 |
90 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6095568 rs375688014 |
91 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381238047 rs375688014 |
91 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776717267 CA6095569 |
93 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265301641 CA381238171 |
96 | D>E | No |
ClinGen gnomAD |
|
|
CA223948316 rs937115637 |
97 | V>L | No |
ClinGen Ensembl |
|
|
CA6095570 rs759541279 |
100 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6095572 rs752883927 |
101 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6095571 rs765457262 |
101 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095573 rs202146837 |
104 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1467816228 CA381238378 |
107 | K>E | No |
ClinGen TOPMed |
|
|
rs529884642 CA6095574 |
108 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750351981 CA6095575 |
109 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1176483242 CA381238449 |
110 | A>G | No |
ClinGen gnomAD |
|
|
CA6095576 rs756098716 |
110 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381238453 rs1351367387 |
111 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1407912332 CA381238532 |
114 | G>S | No |
ClinGen gnomAD |
|
|
rs779866783 CA6095577 |
116 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA223948328 rs1006113239 COSM1676178 |
116 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6095578 rs753350661 |
117 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs372376380 CA6095579 |
118 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372376380 CA6095580 |
118 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759029787 CA223948337 |
119 | P>A | No |
ClinGen Ensembl |
|
|
rs375406361 CA6095581 |
121 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772560955 CA6095582 |
122 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1285246673 CA381238666 |
122 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA223948341 rs893079192 |
124 | L>M | No |
ClinGen TOPMed |
|
|
CA6095583 rs778341247 |
125 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs747392760 CA6095584 |
128 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA381238778 rs1590614515 |
128 | K>N | No |
ClinGen Ensembl |
|
|
CA6095585 rs367746409 |
129 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293800729 CA381238792 |
129 | R>P | No |
ClinGen TOPMed |
|
|
CA6095586 rs543701258 |
130 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1590614528 CA381238830 |
132 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 132 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223948353 rs865909158 |
134 | G>C | No |
ClinGen gnomAD |
|
|
CA381238856 rs759610271 |
134 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6095587 rs759610271 |
134 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6095588 rs769813192 |
136 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1174843601 CA381238903 |
137 | A>P | No |
ClinGen gnomAD |
|
|
CA6095589 rs775657846 |
138 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1030171659 CA223948358 |
138 | R>H | No |
ClinGen Ensembl |
|
|
CA6095590 rs763224352 |
139 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463908954 CA381238939 |
139 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372749167 CA223948361 |
141 | L>I | No |
ClinGen Ensembl |
|
|
rs767283731 CA6095591 |
141 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs750159692 CA6095592 |
142 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6095593 rs760389569 |
144 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA223948366 rs953546609 |
145 | F>S | No |
ClinGen TOPMed |
|
|
CA6095595 rs766293465 |
146 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753770396 CA6095596 |
147 | P>A | No |
ClinGen ExAC TOPMed |
|
|
rs148796463 CA6095599 |
147 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6095597 rs753770396 |
147 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA6095600 rs574350803 |
148 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032726601 CA381239178 |
149 | P>A | No |
ClinGen gnomAD |
|
|
rs1032726601 CA223948376 |
149 | P>S | No |
ClinGen gnomAD |
|
|
CA6095605 rs147453408 |
152 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139835463 CA6095606 |
152 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381239250 rs147453408 |
152 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381239263 rs769908866 |
153 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6095608 rs769908866 |
153 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA381239334 rs1361883607 |
155 | T>I | No |
ClinGen TOPMed |
|
|
CA6095609 rs372618746 |
157 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6095611 rs61978625 |
159 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6095610 rs61978625 |
159 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 168 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776627086 CA6095615 |
171 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs766128987 CA381239758 |
171 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766128987 CA6095614 |
171 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760498669 CA6095613 |
171 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs752190682 CA6095618 |
173 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6095616 rs759453577 |
173 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs759453577 CA6095617 |
173 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1295140233 CA381239825 |
175 | C>R | No |
ClinGen gnomAD |
|
|
rs1364125047 CA381239854 |
176 | A>P | No |
ClinGen gnomAD |
|
|
rs377268847 CA6095619 |
176 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292018288 CA381239934 |
179 | P>L | No |
ClinGen gnomAD |
|
|
COSM690026 rs763789448 CA6095620 |
180 | L>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA381239974 rs1261378362 |
181 | L>M | No |
ClinGen TOPMed |
|
|
rs1590614680 CA381239982 |
181 | L>P | No |
ClinGen Ensembl |
|
|
CA381240015 rs1260752475 |
183 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565550509 CA381240032 |
184 | A>T | No |
ClinGen Ensembl |
|
|
rs151052003 CA6095621 |
184 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757607970 CA6095622 |
185 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381240075 rs1210198422 |
186 | P>A | No |
ClinGen TOPMed |
|
|
CA6095625 rs746373172 |
187 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095626 rs780542364 |
187 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746373172 CA6095624 |
187 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095627 rs780542364 |
187 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412330065 CA381240140 |
188 | S>N | No |
ClinGen gnomAD |
|
|
CA381240121 rs1225700334 |
188 | S>R | No |
ClinGen TOPMed |
|
|
CA223948413 rs139590583 |
189 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6095628 rs139590583 |
189 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965413752 CA223948416 |
190 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381240220 rs1441946321 |
192 | C>R | No |
ClinGen Ensembl |
|
|
rs528194491 CA381240269 |
193 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770746868 CA6095631 |
195 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776235555 CA6095632 |
196 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6095634 rs765229196 |
203 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA381240549 rs1310580265 |
204 | R>S | No |
ClinGen TOPMed |
|
|
CA223948425 rs921364870 |
206 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs145650667 CA6095636 |
209 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs933224952 CA223948430 |
210 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381240690 rs933224952 |
210 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762527483 CA381240704 |
211 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA6095638 rs762527483 |
211 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA381240716 rs1206279486 |
212 | L>R | No |
ClinGen gnomAD |
|
|
CA6095640 rs751216534 |
214 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1372264089 CA381240798 |
215 | G>E | No |
ClinGen TOPMed |
|
|
rs1236047927 CA381240852 |
217 | Q>L | No |
ClinGen gnomAD |
|
|
rs1472762366 CA381240869 |
218 | A>T | No |
ClinGen gnomAD |
|
|
rs1414824690 CA381240941 |
220 | P>L | No |
ClinGen gnomAD |
|
|
CA6095643 rs750686900 |
221 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA381240996 rs1430301403 |
223 | F>L | No |
ClinGen gnomAD |
|
|
rs756501220 CA6095644 |
224 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA381241032 rs1478941506 |
224 | F>V | No |
ClinGen TOPMed |
|
|
rs145521264 CA223948441 |
226 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754384255 CA6095646 |
227 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6095647 rs536474616 |
228 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146429235 CA6095648 COSM348512 |
229 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6095650 rs376047660 |
233 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6095651 rs376047660 |
233 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381241323 rs1590614802 |
236 | H>R | No |
ClinGen Ensembl |
|
|
CA6095653 rs769757329 |
237 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs775534444 CA6095654 |
237 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1482345698 CA381242461 |
239 | L>P | No |
ClinGen gnomAD |
|
|
rs1482345698 CA381242460 |
239 | L>Q | No |
ClinGen gnomAD |
|
|
CA223948455 rs143085334 |
239 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6095658 rs761390041 |
241 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095657 rs773676543 |
241 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA381242477 rs1181576239 |
241 | I>V | No |
ClinGen gnomAD |
|
|
rs1170977653 CA381242495 |
242 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 244 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6095659 rs767036048 |
246 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767036048 CA381242585 |
246 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760378483 CA6095660 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223948466 rs907082202 |
252 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381242719 rs1306880253 |
253 | D>A | No |
ClinGen gnomAD |
|
|
rs760999032 CA6095661 |
253 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1407880838 CA381242715 |
253 | D>N | No |
ClinGen gnomAD |
|
|
rs1055846082 CA223948470 |
255 | G>E | No |
ClinGen TOPMed |
|
|
rs766797544 CA6095662 |
256 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6095664 rs755420136 |
259 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381242784 rs1466937781 |
259 | R>Q | No |
ClinGen TOPMed |
|
|
rs148218458 CA6095665 |
260 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6095666 rs752683530 |
262 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453457468 CA381242896 |
264 | L>R | No |
ClinGen gnomAD |
|
|
rs758530617 CA6095667 |
266 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA223948478 rs200091694 |
267 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs777838584 CA6095668 |
268 | R>G | No |
ClinGen ExAC |
|
|
CA223948481 rs982405240 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747272236 CA381242985 |
269 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747272236 CA6095669 |
269 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1034235374 CA223948483 |
270 | V>M | No |
ClinGen TOPMed |
|
|
CA381243034 rs1167951659 |
271 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769705078 CA6095670 |
274 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA381243087 rs1391363210 |
274 | A>T | No |
ClinGen gnomAD |
|
|
rs1320983771 CA381243123 |
275 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1320983771 CA381243121 |
275 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381243169 rs1435309894 |
277 | P>L | No |
ClinGen gnomAD |
|
|
CA6095671 rs780049656 |
280 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1300271300 CA381243219 |
280 | Y>H | No |
ClinGen gnomAD |
|
|
rs1266614393 CA381243341 |
285 | L>F | No |
ClinGen gnomAD |
|
|
CA6095672 rs749104698 |
286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381243383 rs1565550876 |
288 | A>S | No |
ClinGen Ensembl |
|
|
rs768647792 CA6095674 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761178054 CA6095676 |
289 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs761178054 CA6095677 |
289 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760379588 CA6095679 |
291 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs539004887 CA381243451 |
292 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381243437 rs1590614953 |
292 | T>P | No |
ClinGen Ensembl |
|
|
rs539004887 CA6095680 |
292 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381243457 rs1590614963 |
293 | T>K | No |
ClinGen Ensembl |
|
|
rs1187667869 CA381243481 |
295 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223948504 rs1027191448 |
297 | P>R | No |
ClinGen TOPMed |
|
|
CA6095686 rs764297767 |
301 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381243646 rs1385988724 |
302 | R>Q | No |
ClinGen gnomAD |
|
|
CA6095687 rs751814813 |
302 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376077496 CA679309421 |
304 | F>* | No |
ClinGen TOPMed |
|
|
rs1309801538 CA381243709 |
305 | K>R | No |
ClinGen TOPMed |
|
|
rs1565550947 CA381243745 |
307 | H>R | No |
ClinGen Ensembl |
|
|
rs1448801230 CA381243771 |
309 | R>* | No |
ClinGen TOPMed |
|
|
rs1434878304 CA381243774 |
309 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6095688 rs757492214 |
311 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs984734277 CA223948508 |
311 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6095689 rs201184002 |
313 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6095690 rs749052219 |
314 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210670298 CA381243957 |
317 | A>D | No |
ClinGen gnomAD |
|
|
rs1156919971 CA381243980 |
318 | A>D | No |
ClinGen TOPMed |
|
|
CA6095691 rs754821831 |
320 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs778692078 CA381244054 |
321 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207896074 CA381244058 |
322 | E>K | No |
ClinGen gnomAD |
|
|
CA381244059 rs1207896074 |
322 | E>Q | No |
ClinGen gnomAD |
|
|
CA223948521 rs141071284 |
323 | R>K | No |
ClinGen ESP |
|
|
CA381244166 rs1453016960 |
324 | D>E | No |
ClinGen TOPMed |
|
|
rs150239664 CA6095693 |
324 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6095695 rs772720975 |
325 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs375164433 CA6095694 |
325 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590615042 CA381244200 |
326 | T>P | No |
ClinGen Ensembl |
|
|
CA381244237 rs1367805328 |
327 | S>L | No |
ClinGen gnomAD |
|
|
rs376746759 CA6095698 |
329 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381244325 rs1303795018 |
330 | E>D | No |
ClinGen gnomAD |
|
|
CA381244343 rs1291506910 |
331 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765676896 CA6095700 |
332 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334157197 CA381244387 |
333 | A>S | No |
ClinGen gnomAD |
|
|
rs374034705 CA6095702 |
335 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381244508 rs758062606 |
337 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758062606 CA6095704 |
337 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757443070 CA381244569 |
340 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6095705 rs757443070 |
340 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA223948538 rs753132778 |
341 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223948540 rs943215920 |
343 | V>E | No |
ClinGen Ensembl |
|
|
rs1346934461 CA381244634 |
343 | V>M | No |
ClinGen gnomAD |
|
|
CA6095708 COSM1638919 rs763516267 |
344 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6095709 rs778827394 |
345 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590615116 CA381244739 |
347 | A>V | No |
ClinGen Ensembl |
|
|
CA6095710 rs747909010 |
348 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6095711 rs758290698 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777723452 CA6095712 |
350 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs777723452 CA381244811 |
350 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1161014652 CA381244834 |
351 | V>G | No |
ClinGen TOPMed |
|
|
rs1176407792 CA381244850 |
353 | P>S | No |
ClinGen gnomAD |
|
|
CA381244870 rs1378998208 |
354 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381244969 rs1367046945 |
358 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6095714 rs770480127 |
359 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA381245030 rs1169265444 |
362 | Q>R | No |
ClinGen gnomAD |
|
|
CA381245041 rs1479169633 |
364 | G>W | No |
ClinGen TOPMed |
|
|
rs745598414 CA6095716 |
365 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA381245051 rs1387416243 |
366 | A>T | No |
ClinGen gnomAD |
|
|
rs1590615156 CA381245054 |
366 | A>V | No |
ClinGen Ensembl |
|
|
CA381245059 rs1303766162 |
367 | P>S | No |
ClinGen gnomAD |
|
|
rs1279280445 CA381245071 |
368 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381245066 rs893859728 |
368 | G>R | No |
ClinGen gnomAD |
|
|
rs893859728 CA223948553 |
368 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1279280445 CA381245075 |
368 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6095717 rs770038923 |
369 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6095718 rs770038923 |
369 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763228162 CA6095719 |
370 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs61895426 CA223948558 |
370 | T>P | No |
ClinGen Ensembl |
|
|
rs764620814 CA6095720 |
371 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6095722 rs574556925 |
372 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752161957 CA223948564 |
373 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs750662966 CA381245151 |
374 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs767744357 CA6095723 |
374 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6095724 rs750662966 |
374 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs760896275 CA6095725 |
376 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6095726 rs61732319 |
377 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381245200 rs1565551297 |
377 | T>I | No |
ClinGen Ensembl |
|
|
CA381245221 rs1565551308 |
378 | S>C | No |
ClinGen Ensembl |
|
|
COSM336398 rs1365784213 CA381245264 |
380 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1295341163 CA381245245 |
380 | M>V | No |
ClinGen gnomAD |
|
|
CA223948571 rs977629592 |
381 | P>L | No |
ClinGen TOPMed |
|
|
rs777668705 CA6095730 |
382 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756758386 CA6095732 |
382 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6095731 rs777668705 |
382 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381245320 rs1268700900 |
385 | G>C | No |
ClinGen TOPMed |
|
|
CA381245345 CA381245346 rs1295365101 |
386 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs376338017 CA6095736 |
389 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376338017 CA6095735 |
389 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 390 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866643522 CA223948580 |
393 | S>F | No |
ClinGen Ensembl |
|
|
CA6095737 rs749615100 |
394 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769191642 CA6095738 |
394 | R>H | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6095740 rs762476251 |
399 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381245628 rs984271107 |
400 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1590615255 CA381245617 |
400 | G>S | No |
ClinGen Ensembl |
|
|
CA223948582 rs984271107 |
400 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1419490328 CA381245646 |
401 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1419490328 CA381245648 |
401 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs532297785 CA6095743 |
402 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563208960 CA6095742 |
402 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381245674 rs1590615267 |
402 | E>K | No |
ClinGen Ensembl |
|
|
CA381245694 rs1348141895 |
403 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381245737 rs1321544799 |
405 | S>A | No |
ClinGen gnomAD |
|
|
CA223948583 rs971818481 |
405 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 407 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6095745 rs754060429 |
408 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751481917 CA6095749 |
412 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319464317 CA381245987 |
413 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381246049 rs1217735138 |
414 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 415 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381246129 rs757126205 |
416 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs932981604 CA223948585 |
417 | E>D | No |
ClinGen gnomAD |
|
|
rs528114962 CA6095751 |
417 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749905235 CA381246177 |
418 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs749905235 CA6095752 |
418 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755600902 CA6095753 |
418 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs548265053 CA381246226 CA6095755 |
419 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223948587 rs77078453 |
420 | D>Y | No |
ClinGen Ensembl |
|
|
rs1474943252 CA381246300 |
421 | R>* | No |
ClinGen gnomAD |
|
|
rs1159969410 CA381246305 COSM3810042 |
421 | R>K | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA223948590 rs886827492 |
422 | E>D | No |
ClinGen TOPMed |
|
|
rs143824356 CA6095756 |
424 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143824356 CA6095757 |
424 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374822373 CA381246716 |
433 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs377719346 CA223948592 |
436 | R>Q | No |
ClinGen ESP |
|
|
CA381246774 rs1448468865 |
436 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs773615295 CA6095761 |
437 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs910465047 CA223948593 |
437 | A>V | No |
ClinGen Ensembl |
|
|
CA381246842 rs1413690412 |
439 | G>D | No |
ClinGen gnomAD |
|
|
CA6095763 rs371070888 |
444 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423903755 CA381246982 |
445 | F>L | No |
ClinGen TOPMed |
|
|
rs1226120643 CA381247039 |
447 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA381247070 rs1212645180 |
448 | N>K | No |
ClinGen gnomAD |
|
|
rs1053588469 CA223948596 |
448 | N>S | No |
ClinGen gnomAD |
|
|
CA223948597 rs1020180665 |
449 | S>C | No |
ClinGen TOPMed |
|
|
rs776910175 CA6095764 |
449 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA381247109 rs1485602165 |
450 | T>S | No |
ClinGen gnomAD |
|
|
CA381247159 rs1253979912 |
452 | P>L | No |
ClinGen gnomAD |
|
|
CA6095765 rs759815586 |
453 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759815586 CA381247178 |
453 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs756375682 CA6095766 |
455 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236227118 CA381247245 |
456 | E>* | No |
ClinGen TOPMed |
|
|
COSM3810043 CA6095768 rs761622784 |
458 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA223948598 rs945435173 |
459 | Y>C | No |
ClinGen Ensembl |
|
|
rs901451724 CA223948599 |
460 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs375566203 CA6095772 |
460 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375566203 CA6095771 |
460 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260296170 CA381247389 |
460 | D>V | No |
ClinGen TOPMed |
|
|
rs753514170 CA6095773 |
461 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1590615416 CA381247468 |
465 | V>G | No |
ClinGen Ensembl |
|
|
rs1414048773 CA381247461 |
465 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 466 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351861696 CA381247512 |
467 | R>Q | No |
ClinGen gnomAD |
|
|
rs997498842 CA223948601 |
467 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 469 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381247566 rs1407449153 |
470 | C>G | No |
ClinGen gnomAD |
|
|
rs778741990 CA6095775 |
471 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381247605 rs778741990 |
471 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6095777 rs758886314 |
472 | L>C | No |
ClinGen ExAC |
No associated diseases with Q6B0B8
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 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). |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P07199 | CENPB | Major centromere autoantigen B | Homo sapiens (Human) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELSSKKKLH | ALSLAEKIQV | LELLDESKMS | QSEVARRFQV | SQPQISRICK | NKEKLLADWC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGTANRERKR | KRESKYSGID | EALLCWYHIA | RAKAWDVTGP | MLLHKAKELA | DIMGQDFVPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IGWLVRWKRR | NNVGFGARHV | LAPSFPPEPP | PPGLTSQAQL | PLSLKDFSPE | DVFGCAELPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LYRAVPGSFG | ACDQVQVLLC | ANSRGTEKRR | VLLGGLQAAP | RCFFGIRSEA | LPASYHPDLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IPWLEWLAQF | DRDMGQQGRQ | VALLLAARVV | EELAGLPGLY | HVKLLPLAAS | STTPPLPSSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VRAFKAHYRH | RLLGKLAAIQ | SERDGTSLAE | AGAGITVLDA | LHVASAAWAK | VPPQLIFSSF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IQEGLAPGKT | PPSSHKTSEM | PPVPGGLSLE | EFSRFVDLEG | EEPRSGVCKE | EIGTEDEKGD |
| 430 | 440 | 450 | 460 | 470 | |
| REGAFEPLPT | KADALRALGT | LRRWFECNST | SPELFEKFYD | CEEEVERLCC | L |