Q96EK5
Gene name |
KIFBP |
Protein name |
KIF-binding protein |
Names |
KIF1-binding protein, Kinesin family binding protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26128 |
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
448 variants for Q96EK5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA172377 RCV000888750 rs148768851 RCV000984789 RCV000146134 |
23 | E>G | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5529616 rs372223602 RCV002240734 RCV001105545 |
39 | A>G | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757781374 CA5529620 RCV001105546 |
41 | A>P | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767103634 RCV000449580 |
56 | D>missing | Peripheral neuropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001251036 rs770201721 |
57 | E>* | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000712142 CA172373 RCV000600043 RCV000146132 VAR_023311 rs2255607 |
66 | G>S | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201068859 RCV002558055 RCV001105547 CA5529637 |
68 | G>R | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001794429 CA251942 rs121434515 |
84 | E>* | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121434514 RCV001794428 CA251940 |
90 | R>* | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001105548 CA376899159 rs1339934594 |
101 | L>F | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768592975 CA5529651 RCV001105550 |
108 | T>A | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs62625033 RCV000146133 RCV000710152 RCV001106691 CA172375 |
173 | M>T | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA376896175 RCV000984791 rs1589296239 |
189 | P>S | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730882150 RCV000325234 RCV001795283 CA273767 |
200 | S>* | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001795284 rs730882151 |
202 | R>missing | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001106692 rs547582634 CA5529750 |
240 | E>K | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001106693 rs749110699 RCV000503869 CA5529758 |
261 | I>V | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA213244 RCV000146136 rs76319365 |
309 | E>K | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA376898230 rs1293340864 RCV000500069 |
326 | Q>* | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs769950460 RCV000334908 RCV002281081 |
362 | A>missing | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984790 RCV002235142 rs370902866 CA5529879 |
427 | S>G | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002240736 RCV001108857 CA5529886 rs764557349 |
442 | R>T | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1457900956 RCV001108859 |
458 | T>I | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984793 rs781469363 RCV000599038 |
506 | I>missing | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558090 CA5529926 RCV001108861 rs561448573 |
539 | V>I | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA209208270 RCV000732820 rs906050638 RCV002250687 |
549 | R>* | Goldberg-Shprintzen megacolon syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001108862 rs1839004363 |
556 | K>Q | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1216570912 RCV000984792 |
565 | E>missing | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001103701 CA5529943 rs374731910 |
590 | A>T | Goldberg-Shprintzen megacolon syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA209191387 rs756816553 |
5 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5529603 rs756816553 |
5 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA209191388 rs545527324 |
6 | W>* | No |
ClinGen TOPMed |
|
|
CA376898256 rs1358858905 |
6 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA209191389 rs1024180629 |
7 | A>G | No |
ClinGen Ensembl |
|
|
rs1843307363 RCV001289079 |
7 | A>S | No |
ClinVar dbSNP |
|
| TCGA novel | 7 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265597786 CA376898296 |
8 | E>A | No |
ClinGen gnomAD |
|
|
rs553587755 CA5529604 RCV000501767 |
10 | C>F | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 11 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747405986 CA5529607 |
13 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA376898389 rs777015827 |
15 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777015827 CA5529609 |
15 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376898396 rs1481458834 |
16 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1589292346 CA376898401 |
17 | L>V | No |
ClinGen Ensembl |
|
|
CA376898409 rs1181708378 |
18 | A>S | No |
ClinGen TOPMed |
|
|
CA5529611 rs770113692 |
20 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA209191390 rs1014852252 |
20 | S>W | No |
ClinGen Ensembl |
|
|
rs1429970950 CA376898439 |
21 | R>P | No |
ClinGen gnomAD |
|
|
rs1471707597 CA376898436 |
21 | R>W | No |
ClinGen TOPMed |
|
|
rs775247494 CA376898472 |
25 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529614 rs775247494 |
25 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324154278 CA376898580 |
33 | Y>H | No |
ClinGen gnomAD |
|
|
rs763921922 CA5529615 |
36 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA376898648 rs1285747347 |
39 | A>T | No |
ClinGen gnomAD |
|
|
rs372223602 CA5529617 |
39 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749960762 CA5529619 |
40 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1283885170 CA376898679 |
43 | L>V | No |
ClinGen gnomAD |
|
|
rs1226222903 CA376898735 |
48 | A>G | No |
ClinGen TOPMed |
|
|
rs747425094 CA5529622 |
48 | A>P | No |
ClinGen ExAC |
|
|
CA209191393 rs897870475 |
50 | L>R | No |
ClinGen TOPMed |
|
|
CA376898756 rs1041795333 |
51 | G>R | No |
ClinGen TOPMed |
|
|
CA209191395 rs1041795333 |
51 | G>S | No |
ClinGen TOPMed |
|
|
CA5529623 rs755489046 |
52 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376898763 rs1480034789 |
52 | P>S | No |
ClinGen gnomAD |
|
|
CA376898772 rs1406956910 |
54 | P>T | No |
ClinGen TOPMed |
|
|
rs1426169338 CA376898786 |
56 | D>N | No |
ClinGen gnomAD |
|
|
CA5529627 rs770201721 |
57 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773512678 RCV000500164 CA5529628 |
59 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs749414163 CA5529629 |
60 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5529630 rs371300766 |
61 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529631 rs774462618 |
63 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1348764 CA376898837 rs774462618 |
63 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA209191397 rs935579771 |
64 | E>K | No |
ClinGen TOPMed |
|
|
CA5529633 rs2255607 |
66 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5529634 rs2255607 |
66 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750004526 CA5529636 |
67 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764872990 CA5529635 |
67 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201068859 CA5529638 |
68 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1206217818 CA376898861 |
68 | G>D | No |
ClinGen TOPMed |
|
|
rs201068859 CA376898860 |
68 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376898864 rs1292526099 |
69 | A>T | No |
ClinGen gnomAD |
|
|
CA376898868 rs1490219246 |
69 | A>V | No |
ClinGen gnomAD |
|
|
rs1393955776 CA376898873 |
70 | G>D | No |
ClinGen gnomAD |
|
|
rs1252658012 CA376898879 |
71 | D>G | No |
ClinGen gnomAD |
|
|
rs1012864536 CA209191398 |
72 | H>N | No |
ClinGen Ensembl |
|
|
rs755612919 CA376898929 |
77 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755612919 CA5529641 |
77 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755612919 CA376898927 |
77 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180741256 CA376898925 |
77 | P>S | No |
ClinGen gnomAD |
|
|
rs1163865456 CA376898932 |
78 | A>T | No |
ClinGen gnomAD |
|
|
rs1247242658 CA376898941 |
79 | E>K | No |
ClinGen gnomAD |
|
|
rs192748736 CA209191400 |
84 | E>D | No |
ClinGen 1000Genomes |
|
|
CA376898990 rs121434515 |
84 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778077029 CA5529646 |
85 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA376899003 rs778077029 |
85 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs749517204 CA5529647 |
86 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA376899022 rs1328531861 |
87 | V>F | No |
ClinGen gnomAD |
|
|
CA209191401 rs1014883362 |
88 | A>T | No |
ClinGen TOPMed |
|
|
rs1387463152 CA376899038 |
89 | Q>K | No |
ClinGen TOPMed |
|
|
CA376899041 rs1334373963 |
89 | Q>R | No |
ClinGen gnomAD |
|
|
CA376899050 rs992870301 |
90 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA209191402 rs992870301 |
90 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA376899082 rs1316056840 |
94 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376899110 rs1358806567 |
97 | I>V | No |
ClinGen gnomAD |
|
|
rs1383187078 CA376899117 |
98 | E>K | No |
ClinGen TOPMed |
|
|
CA5529649 rs774361181 |
99 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219404864 COSM1255676 CA376899208 |
105 | H>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs912912274 CA209191403 |
106 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376899228 rs745948039 |
107 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5529650 rs745948039 |
107 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761628784 CA5529654 |
109 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1462900645 CA376899275 |
111 | L>R | No |
ClinGen gnomAD |
|
|
rs1167874163 CA376899283 |
112 | S>L | No |
ClinGen gnomAD |
|
|
CA376899292 rs1262056242 |
114 | G>R | No |
ClinGen TOPMed |
|
|
CA5529655 rs769531440 |
116 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773038576 CA5529656 |
117 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA209191407 rs1030239043 |
117 | H>Q | No |
ClinGen gnomAD |
|
|
rs773038576 CA376899342 |
117 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA376899338 rs1337631572 |
117 | H>Y | No |
ClinGen gnomAD |
|
|
rs1589292460 CA376899357 |
119 | V>G | No |
ClinGen Ensembl |
|
|
CA376899376 rs1394527585 |
120 | K>N | No |
ClinGen gnomAD |
|
|
CA5529657 rs372695759 |
123 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209191409 rs986393623 |
124 | L>R | No |
ClinGen TOPMed |
|
|
CA376893180 rs1308188448 |
126 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376893186 rs751092379 |
127 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529660 rs759061022 |
127 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs768145533 CA5529661 |
128 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589292473 CA376893207 |
128 | Y>D | No |
ClinGen Ensembl |
|
|
CA5529662 rs753204138 |
129 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1459656007 CA376893226 |
129 | R>L | No |
ClinGen gnomAD |
|
|
CA5529665 CA376893245 rs540172119 |
132 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA209202130 rs200399485 |
134 | C>G | No |
ClinGen 1000Genomes |
|
|
CA5529667 rs143950359 |
135 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376893263 rs1159688038 |
135 | I>S | No |
ClinGen gnomAD |
|
|
rs757478269 CA5529666 |
135 | I>V | No |
ClinGen ExAC |
|
|
rs772098884 CA5529669 |
136 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1476325494 CA376893272 |
137 | L>V | No |
ClinGen TOPMed |
|
|
rs1050330380 CA209202141 |
139 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1050330380 CA376893289 |
139 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781131113 CA5529670 |
139 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5529671 rs529028747 |
140 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs865809614 CA209202148 |
141 | A>G | No |
ClinGen gnomAD |
|
|
CA209202145 rs375084646 |
141 | A>T | No |
ClinGen Ensembl |
|
|
rs865809614 CA376893313 |
141 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376893325 rs1290898365 |
142 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5529692 rs769682005 |
143 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529694 rs749043896 |
154 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA209204688 rs770722517 |
155 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5529695 rs770722517 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376895243 rs1387131459 |
160 | A>T | No |
ClinGen gnomAD |
|
|
rs1589295169 CA376895300 |
162 | L>V | No |
ClinGen Ensembl |
|
|
rs774262677 CA5529696 |
163 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1302467817 CA376895352 |
165 | S>* | No |
ClinGen gnomAD |
|
|
rs1347981384 CA376895382 |
167 | A>V | No |
ClinGen gnomAD |
|
|
rs1044770486 CA209204696 |
171 | Q>H | No |
ClinGen TOPMed |
|
|
rs200596309 CA376895455 |
173 | M>L | No |
ClinGen TOPMed |
|
|
rs200596309 CA209204698 RCV000992248 |
173 | M>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1257801340 CA376895474 |
174 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs144317643 CA5529699 |
175 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5529712 rs757109189 COSM427813 |
176 | V>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1564636741 CA376896045 |
178 | S>N | No |
ClinGen Ensembl |
|
| rs757514844 | 180 | P>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA209205883 rs1047715298 |
181 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 182 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000992249 CA5529714 rs112642097 |
184 | T>A | No |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
|
CA209205885 rs112642097 |
184 | T>P | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
RCV000192664 RCV002229020 rs200098813 CA205635 |
186 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs139483880 CA5529716 |
186 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1197071935 CA376896155 |
187 | F>C | No |
ClinGen gnomAD |
|
|
RCV000193127 rs771863463 CA206400 |
188 | L>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1464792155 CA376896191 |
190 | E>A | No |
ClinGen gnomAD |
|
|
CA209205892 rs979798155 |
191 | E>K | No |
ClinGen Ensembl |
|
|
rs926983945 CA209205895 |
192 | E>G | No |
ClinGen TOPMed |
|
|
CA5529717 rs377072770 |
195 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5529719 rs768162436 |
196 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA209205905 rs866585619 |
197 | Q>R | No |
ClinGen Ensembl |
|
|
rs1157358651 CA376896341 |
199 | R>I | No |
ClinGen TOPMed |
|
|
CA376896374 rs1564636963 |
202 | R>S | No |
ClinGen Ensembl |
|
|
rs746722910 CA209206076 |
206 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746722910 CA5529736 |
206 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376896407 rs1346531121 |
207 | Y>C | No |
ClinGen gnomAD |
|
|
rs1383529353 CA376896439 |
212 | Y>H | No |
ClinGen TOPMed |
|
|
rs1224561733 CA376896447 |
213 | Y>D | No |
ClinGen gnomAD |
|
|
CA5529737 COSM299844 rs768162943 |
215 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA376896466 rs1297155405 |
216 | Q>* | No |
ClinGen TOPMed |
|
|
rs935472274 CA209206080 |
216 | Q>P | No |
ClinGen TOPMed |
|
|
CA376896492 rs1487370056 |
218 | Y>D | No |
ClinGen gnomAD |
|
|
rs370670715 CA5529738 |
219 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376896547 rs1289198105 |
221 | L>P | No |
ClinGen TOPMed |
|
|
CA5529739 rs747600573 |
222 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529740 rs368916440 |
223 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5529741 rs781257334 |
227 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388953594 CA376896632 |
228 | A>T | No |
ClinGen TOPMed |
|
|
CA376896640 rs1365348518 |
228 | A>V | No |
ClinGen gnomAD |
|
|
rs191873145 CA5529743 |
230 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1377923102 CA376896675 |
231 | C>S | No |
ClinGen gnomAD |
|
|
CA5529745 rs759865249 |
233 | S>G | No |
ClinGen ExAC |
|
|
rs752833136 COSM1348766 CA5529747 |
237 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5529748 rs760604068 |
237 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376896719 rs760604068 |
237 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209206102 rs997199629 |
238 | Q>H | No |
ClinGen TOPMed |
|
|
rs547582634 CA5529749 |
240 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529752 rs141052402 |
243 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA209206113 rs1016134527 |
244 | Y>D | No |
ClinGen TOPMed |
|
|
CA5529754 rs140826893 |
245 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376896850 rs1248349112 |
247 | I>M | No |
ClinGen gnomAD |
|
|
CA376896852 rs1296096605 |
248 | E>K | No |
ClinGen TOPMed |
|
|
CA376896897 rs1355494591 |
251 | I>V | No |
ClinGen gnomAD |
|
|
rs937189116 CA209206119 |
252 | N>K | No |
ClinGen Ensembl |
|
|
CA5529755 rs780651935 |
252 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376896948 rs1252367280 |
254 | A>V | No |
ClinGen gnomAD |
|
|
CA209206121 rs866036954 |
256 | L>F | No |
ClinGen Ensembl |
|
|
rs1177613996 CA376896971 |
256 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5529756 rs747701445 |
257 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1386003298 CA376896992 |
258 | Q>* | No |
ClinGen TOPMed |
|
|
rs572485003 CA5529757 |
260 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376897023 rs572485003 |
260 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376897079 rs1162016885 |
263 | K>R | No |
ClinGen gnomAD |
|
|
rs766214681 CA5529769 |
264 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149706162 CA5529771 |
265 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376897295 rs1465710834 |
267 | M>I | No |
ClinGen TOPMed |
|
|
CA5529772 rs374135003 |
267 | M>V | No |
ClinGen ESP ExAC |
|
|
rs1364436073 CA376897309 |
269 | A>G | No |
ClinGen gnomAD |
|
|
rs752246398 CA5529773 |
269 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA376897306 rs752246398 |
269 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755744684 CA5529775 |
271 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs755744684 CA5529774 |
271 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA376897544 rs1376167494 |
286 | I>V | No |
ClinGen TOPMed |
|
|
CA5529778 rs779217930 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376897585 rs1261835762 |
289 | T>A | No |
ClinGen gnomAD |
|
|
rs201438642 CA5529779 |
292 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5529780 rs201438642 |
292 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376897892 rs1213874017 |
297 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261742653 CA376897925 |
299 | V>A | No |
ClinGen gnomAD |
|
|
rs941844673 CA209207085 |
300 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 300 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149809657 CA5529793 |
301 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376897966 rs1431618931 |
302 | L>P | No |
ClinGen gnomAD |
|
|
rs918976095 CA209207088 |
305 | Q>H | No |
ClinGen gnomAD |
|
|
rs753347618 CA5529794 |
307 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5529795 rs756713727 |
310 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5529796 rs779495747 |
311 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA376898047 rs1413526451 |
314 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1437122309 CA376898056 |
314 | W>C | No |
ClinGen gnomAD |
|
|
CA376898045 rs1180857940 |
314 | W>R | No |
ClinGen gnomAD |
|
|
CA376898048 rs1413526451 |
314 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746409140 CA5529802 |
319 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA209207093 rs978909163 |
320 | T>P | No |
ClinGen TOPMed |
|
|
CA376898133 rs200525249 |
321 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199510149 CA209207095 |
321 | L>P | No |
ClinGen 1000Genomes |
|
|
rs200525249 CA5529803 |
321 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1352329978 CA376898147 |
322 | M>I | No |
ClinGen gnomAD |
|
|
rs141279010 CA5529805 |
322 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769013695 CA5529806 |
325 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376898229 rs1293340864 |
326 | Q>E | No |
ClinGen gnomAD |
|
|
CA5529834 rs749327406 |
331 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374306964 CA209208242 |
332 | N>K | No |
ClinGen ESP gnomAD |
|
|
rs771905210 CA5529835 |
332 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376899608 rs1411453116 |
333 | I>K | No |
ClinGen gnomAD |
|
|
rs1181204651 CA376899601 |
333 | I>V | No |
ClinGen gnomAD |
|
|
CA209208243 rs113952834 |
334 | G>A | No |
ClinGen gnomAD |
|
|
CA376899641 rs113952834 |
334 | G>E | No |
ClinGen gnomAD |
|
|
rs1430252870 CA376899628 |
334 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA209208244 rs774495984 |
335 | E>G | No |
ClinGen Ensembl |
|
|
rs775363378 CA5529836 |
336 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA376899711 rs760482247 |
337 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529837 rs760482247 |
337 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209208245 rs916055618 |
339 | D>N | No |
ClinGen gnomAD |
|
|
CA376899819 rs1288749960 |
342 | S>P | No |
ClinGen TOPMed |
|
|
CA376899821 rs1446733493 |
342 | S>Y | No |
ClinGen gnomAD |
|
|
rs776378534 CA5529838 |
344 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761439410 CA5529840 |
345 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5529841 rs764929585 |
349 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs762458711 CA5529843 |
350 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA376900001 rs1362774155 |
354 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA209208246 rs994920889 |
356 | E>G | No |
ClinGen TOPMed |
|
|
CA5529845 rs138090713 |
356 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5529848 rs371267544 |
359 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5529847 COSM275692 rs755522222 |
359 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5529850 rs756300309 |
360 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376900087 rs756300309 |
360 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs769950460 | 362 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036928323 CA209208248 |
363 | V>E | No |
ClinGen Ensembl |
|
|
CA209208249 rs138802223 |
364 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5529853 rs374297499 |
365 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1245098587 CA376900173 |
366 | G>E | No |
ClinGen TOPMed |
|
|
CA376900166 rs1346485433 |
366 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376900213 rs1333565207 |
368 | G>D | No |
ClinGen gnomAD |
|
|
COSM3978739 rs200669180 CA5529855 |
368 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1342924055 CA376900236 |
369 | E>K | No |
ClinGen TOPMed |
|
|
rs200179572 CA209208251 |
371 | C>S | No |
ClinGen 1000Genomes |
|
|
rs202157293 CA209208250 |
371 | C>S | No |
ClinGen Ensembl |
|
|
COSM685542 rs770724316 CA5529857 |
373 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1276557114 CA376900343 |
374 | I>M | No |
ClinGen gnomAD |
|
|
CA5529859 rs761611047 |
374 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 375 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376900374 rs776459431 |
376 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5529860 rs776459431 |
376 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA209208252 rs960846058 |
377 | V>I | No |
ClinGen TOPMed |
|
|
rs1217236521 CA376900427 |
379 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1487268466 CA376900472 |
381 | V>A | No |
ClinGen gnomAD |
|
|
CA10606528 rs886044247 RCV000388627 |
381 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA209208253 rs371981506 |
384 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA5529862 rs762394220 |
388 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs1247087961 CA376900693 |
393 | R>K | No |
ClinGen gnomAD |
|
|
COSM919852 rs766038589 CA5529863 |
394 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5529865 rs760190886 |
397 | L>F | No |
ClinGen ExAC |
|
|
rs768129181 CA376900741 |
398 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529867 rs753004563 |
399 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs756457508 CA5529868 |
402 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209208254 rs902198961 |
404 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 404 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 406 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5529870 rs754137248 |
407 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA376900880 rs1332083800 |
410 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs779030658 CA5529872 |
411 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1379196173 CA376900910 |
412 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745934722 CA5529873 |
412 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376900918 rs1269240713 |
413 | D>Y | No |
ClinGen TOPMed |
|
|
CA376900934 rs1338360350 |
414 | G>A | No |
ClinGen TOPMed |
|
|
CA5529874 rs754921517 |
414 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031934038 CA209208256 |
415 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA209208257 rs1031934038 |
415 | Y>F | No |
ClinGen Ensembl |
|
|
rs999150215 CA209208255 |
415 | Y>N | No |
ClinGen Ensembl |
|
|
rs1285409321 CA376900948 |
416 | V>I | No |
ClinGen gnomAD |
|
|
CA376900971 rs1564639516 RCV000761724 |
418 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA376900985 rs1351350616 |
419 | H>Y | No |
ClinGen gnomAD |
|
|
CA5529875 rs377298939 |
420 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209208258 rs960310811 |
422 | V>A | No |
ClinGen Ensembl |
|
|
RCV000502283 rs1450869089 CA376901035 |
423 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA5529877 rs769584821 |
424 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769584821 CA376901050 |
424 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1014919970 CA209208259 |
424 | Q>R | No |
ClinGen Ensembl |
|
|
rs772862957 CA5529878 |
425 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5529880 rs770706536 |
428 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529881 rs774066072 |
432 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA376901852 rs373810468 |
433 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373810468 CA5529882 |
433 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391894394 CA376901880 |
435 | F>V | No |
ClinGen gnomAD |
|
|
CA209208260 rs932630326 |
436 | F>L | No |
ClinGen TOPMed |
|
|
rs1402651253 CA376901967 |
440 | M>V | No |
ClinGen gnomAD |
|
|
rs377744293 CA5529888 |
443 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757532870 CA5529887 |
443 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529889 rs750506715 |
449 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5529890 rs201404470 |
449 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5529891 rs201404470 |
449 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748167932 CA5529892 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA209208262 rs909933445 |
453 | M>V | No |
ClinGen Ensembl |
|
|
CA376902190 rs1589299061 |
458 | T>P | No |
ClinGen Ensembl |
|
|
rs1457900956 CA376902198 |
458 | T>S | No |
ClinGen gnomAD |
|
|
rs1235802814 CA376902209 |
459 | V>A | No |
ClinGen gnomAD |
|
|
CA5529894 rs777693937 |
459 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5529895 rs749084385 |
461 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5529898 rs774102690 |
465 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1402950491 CA376902315 |
467 | L>P | No |
ClinGen gnomAD |
|
|
CA5529901 rs761310113 |
470 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376902389 rs1397928504 |
473 | I>M | No |
ClinGen gnomAD |
|
|
rs1334941703 CA376902390 |
474 | Q>K | No |
ClinGen gnomAD |
|
|
rs764494346 CA5529902 |
479 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1554843825 COSM3375518 CA376902431 |
479 | H>R | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5529903 rs375318030 |
483 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762099157 CA5529904 |
484 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376902484 rs1219083406 |
486 | D>G | No |
ClinGen TOPMed |
|
|
rs933931987 CA209208263 |
489 | V>A | No |
ClinGen TOPMed |
|
|
CA376902504 rs1217616883 |
489 | V>F | No |
ClinGen gnomAD |
|
|
rs147288545 CA5529906 |
490 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564639628 CA376902512 |
490 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 492 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5529908 rs766522607 |
492 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376902539 rs946518833 |
494 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs139261765 CA5529909 |
495 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763853555 CA209208265 |
497 | D>G | No |
ClinGen Ensembl |
|
|
CA5529910 rs756138362 |
501 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376902581 rs756138362 |
501 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376902580 rs1426204282 |
501 | H>Y | No |
ClinGen gnomAD |
|
|
rs1371483818 CA376902591 |
502 | I>M | No |
ClinGen gnomAD |
|
|
CA5529912 rs753695346 |
503 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1589299115 CA376902617 |
506 | I>T | No |
ClinGen Ensembl |
|
|
rs1412898890 CA376902624 |
507 | N>S | No |
ClinGen TOPMed |
|
|
CA376902634 rs1404262531 |
508 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 509 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA209208267 rs1056181592 |
510 | N>S | No |
ClinGen Ensembl |
|
|
CA5529915 rs757081898 |
512 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA376902658 rs1401634537 |
512 | S>P | No |
ClinGen gnomAD |
|
|
rs1300021171 CA376902662 |
513 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA376902664 rs1300021171 |
513 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs541494160 CA5529917 |
524 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376902758 rs1233563985 |
526 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5529919 rs779684131 |
528 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779684131 CA209208268 |
528 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746439491 CA5529920 |
530 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5529921 rs769220890 |
531 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA376902819 rs1564639686 |
531 | F>L | No |
ClinGen Ensembl |
|
|
rs1241920948 CA376902831 |
532 | P>L | No |
ClinGen TOPMed |
|
|
rs1564639691 CA376902837 |
533 | E>A | No |
ClinGen Ensembl |
|
|
CA5529922 rs777074091 |
533 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5529923 rs762195530 |
534 | H>P | No |
ClinGen ExAC |
|
| TCGA novel | 534 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014537937 CA209208269 |
535 | I>T | No |
ClinGen Ensembl |
|
|
rs773542445 CA5529925 |
535 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376902865 rs1589299144 |
536 | G>E | No |
ClinGen Ensembl |
|
|
CA376902889 rs1564639703 |
540 | L>F | No |
ClinGen Ensembl |
|
|
CA5529927 rs374074903 |
541 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368405054 RCV000516403 RCV002525045 CA5529928 |
541 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753869868 CA5529931 |
543 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1419050253 CA376902941 |
548 | F>L | No |
ClinGen gnomAD |
|
|
rs1419050253 CA376902942 |
548 | F>V | No |
ClinGen gnomAD |
|
|
rs1307543514 CA376902957 |
550 | V>I | No |
ClinGen TOPMed |
|
|
rs147387308 CA5529933 |
552 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368655395 CA5529935 |
552 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368655395 CA5529934 |
552 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147387308 CA376902978 |
552 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1300238727 CA376903016 |
555 | G>D | No |
ClinGen gnomAD |
|
|
CA209208272 rs866474350 |
556 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 557 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5529937 rs768011424 |
558 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5529938 rs372342802 |
562 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376903105 rs1355001362 |
564 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770269897 CA376903222 |
573 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5529940 rs770269897 |
573 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376903238 rs1160246349 |
574 | E>Q | No |
ClinGen TOPMed |
|
|
CA5529941 rs773630664 |
577 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs972791290 CA209208273 |
578 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 578 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA209208274 rs954046550 |
580 | V>I | No |
ClinGen TOPMed |
|
|
rs1297508616 CA376903401 |
583 | C>S | No |
ClinGen Ensembl |
|
|
rs1179791643 CA376903409 |
583 | C>Y | No |
ClinGen TOPMed |
|
|
CA376903448 rs1180539772 |
585 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1351395042 CA376903556 |
590 | A>V | No |
ClinGen gnomAD |
|
|
CA376903570 rs1458281300 |
591 | Q>R | No |
ClinGen gnomAD |
|
|
rs201007879 CA209208276 |
593 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA376903629 rs1391756244 |
594 | E>Q | No |
ClinGen gnomAD |
|
|
rs775700337 CA5529947 |
601 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1564639777 CA376903895 |
603 | M>T | No |
ClinGen Ensembl |
|
|
CA5529948 rs761910393 |
605 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1222693850 CA376904010 |
608 | P>L | No |
ClinGen gnomAD |
|
|
rs1354919783 CA376904017 |
609 | T>A | No |
ClinGen TOPMed |
|
|
rs552921995 CA209208277 |
610 | K>N | No |
ClinGen 1000Genomes |
|
|
CA376904095 rs1272965370 |
612 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758079903 CA5529951 |
618 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA376904252 rs1589299224 |
619 | A>T | No |
ClinGen Ensembl |
|
|
CA209208278 rs985410422 |
620 | L>R | No |
ClinGen TOPMed |
|
|
CA209208279 rs911087411 |
621 | T>I | No |
ClinGen Ensembl |
|
|
CA5529952 rs766086695 |
621 | T>S | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q96EK5
[MIM: 609460]: Goldberg-Shprintzen syndrome (GOSHS)
A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. {ECO:0000269|PubMed:15883926, ECO:0000269|PubMed:23427148}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. {ECO:0000269|PubMed:15883926, ECO:0000269|PubMed:23427148}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q96EK5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96EK5 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system projection neuron axonogenesis | Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells in a different central nervous system region. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| mitochondrial transport | Transport of substances into, out of or within a mitochondrion. |
| neuron projection maintenance | The organization process that preserves a neuron projection in a stable functional or structural state. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANVPWAEVC | EKFQAALALS | RVELHKNPEK | EPYKSKYSAR | ALLEEVKALL | GPAPEDEDER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEAEDGPGAG | DHALGLPAEV | VEPEGPVAQR | AVRLAVIEFH | LGVNHIDTEE | LSAGEEHLVK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CLRLLRRYRL | SHDCISLCIQ | AQNNLGILWS | EREEIETAQA | YLESSEALYN | QYMKEVGSPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LDPTERFLPE | EEKLTEQERS | KRFEKVYTHN | LYYLAQVYQH | LEMFEKAAHY | CHSTLKRQLE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HNAYHPIEWA | INAATLSQFY | INKLCFMEAR | HCLSAANVIF | GQTGKISATE | DTPEAEGEVP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELYHQRKGEI | ARCWIKYCLT | LMQNAQLSMQ | DNIGELDLDK | QSELRALRKK | ELDEEESIRK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KAVQFGTGEL | CDAISAVEEK | VSYLRPLDFE | EARELFLLGQ | HYVFEAKEFF | QIDGYVTDHI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EVVQDHSALF | KVLAFFETDM | ERRCKMHKRR | IAMLEPLTVD | LNPQYYLLVN | RQIQFEIAHA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YYDMMDLKVA | IADRLRDPDS | HIVKKINNLN | KSALKYYQLF | LDSLRDPNKV | FPEHIGEDVL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RPAMLAKFRV | ARLYGKIITA | DPKKELENLA | TSLEHYKFIV | DYCEKHPEAA | QEIEVELELS |
| 610 | 620 | ||||
| KEMVSLLPTK | MERFRTKMAL | T |