Q8N5V2
Gene name |
NGEF |
Protein name |
Ephexin-1 |
Names |
Eph-interacting exchange protein, Neuronal guanine nucleotide exchange factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25791 |
EC number |
|
Protein Class |
GUANINE NUCLEOTIDE EXCHANGE FACTOR (PTHR12845) |

Descriptions
Ngef acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases. Ngef has the autoinhibitory helix which can regulate protein by phosphorylation. The substitution of Tyr 179 with Glu (Y179E) within the putative autoinhibitory helix activated Ngef to the same extent as removing this region by truncation, and likely Ngef does.
Autoinhibitory domains (AIDs)
Target domain |
273-457 (DH domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q8N5V2
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q8N5V2-F1 | Predicted | AlphaFoldDB |
492 variants for Q8N5V2
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA351032953 rs1170690124 |
2 | E>K | No |
ClinGen TOPMed |
|
CA351032942 rs1162061874 |
3 | T>N | No |
ClinGen TOPMed |
|
rs1456065658 CA351032945 |
3 | T>S | No |
ClinGen TOPMed |
|
CA2171941 rs773248541 |
5 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171940 rs772110263 |
6 | S>C | No |
ClinGen ExAC gnomAD |
|
CA351032918 rs1452908099 |
7 | E>* | No |
ClinGen gnomAD |
|
CA351032920 rs1452908099 |
7 | E>K | No |
ClinGen gnomAD |
|
CA2171939 rs761214938 |
9 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1442918800 CA351032842 |
12 | T>I | No |
ClinGen gnomAD |
|
rs779732421 CA2171935 |
13 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373205374 CA2171934 |
13 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2171936 rs779732421 |
13 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763578007 CA67007786 |
14 | R>K | No |
ClinGen Ensembl |
|
rs746298365 CA351032806 |
14 | R>S | No |
ClinGen ExAC gnomAD |
|
CA351032796 rs1204936681 |
15 | K>I | No |
ClinGen gnomAD |
|
CA2171932 rs781541822 |
16 | S>T | No |
ClinGen ExAC gnomAD |
|
CA2171931 rs757800175 |
17 | A>G | No |
ClinGen ExAC gnomAD |
|
CA2171930 rs751529938 |
19 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351032592 rs1227648102 |
24 | D>N | No |
ClinGen gnomAD |
|
rs755636632 CA67007778 |
25 | N>K | No |
ClinGen Ensembl |
|
rs138859609 CA2171928 |
27 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138859609 CA2171929 |
27 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2171926 rs765593424 |
30 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750289776 CA2171924 |
33 | E>A | No |
ClinGen ExAC gnomAD |
|
CA2171925 rs186848841 |
33 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1215459751 CA351032427 |
35 | L>F | No |
ClinGen TOPMed |
|
rs767299628 CA2171923 |
35 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351032428 rs1215459751 |
35 | L>V | No |
ClinGen TOPMed |
|
CA351032409 rs1559231255 |
38 | K>E | No |
ClinGen Ensembl |
|
rs761813173 CA2171922 |
39 | E>G | No |
ClinGen ExAC gnomAD |
|
CA2171920 rs773692870 |
42 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171919 rs768192879 |
46 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752301389 CA2171918 |
47 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351032340 rs1186433702 |
48 | I>V | No |
ClinGen TOPMed |
|
rs1271651323 CA351032331 |
49 | Q>* | No |
ClinGen gnomAD |
|
CA2171916 rs146081416 |
51 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2171917 rs775119829 |
51 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA351032314 rs1490338275 |
51 | K>R | No |
ClinGen gnomAD |
|
rs746177581 CA2171915 |
52 | E>K | No |
ClinGen ExAC TOPMed |
|
rs1257482994 CA351032302 |
53 | P>S | No |
ClinGen gnomAD |
|
CA2171910 rs778189337 |
56 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758519008 CA2171909 |
57 | I>V | No |
ClinGen ExAC gnomAD |
|
CA351032260 rs1453683468 |
59 | I>T | No |
ClinGen TOPMed |
|
rs748300518 CA2171908 |
59 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171907 rs779259452 |
60 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs548138126 CA67007727 |
60 | K>T | No |
ClinGen gnomAD |
|
CA351032231 rs1393287603 |
63 | S>C | No |
ClinGen gnomAD |
|
rs755263861 CA2171905 |
63 | S>P | No |
ClinGen ExAC gnomAD |
|
CA2171904 rs750118286 |
64 | I>V | No |
ClinGen ExAC gnomAD |
|
CA67007716 rs939069496 |
65 | F>S | No |
ClinGen TOPMed gnomAD |
|
rs143190519 COSM1017939 CA2171903 COSM1591949 |
67 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
rs776864089 CA2171902 |
67 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776864089 CA351032207 |
67 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1480362239 CA351032202 |
68 | S>F | No |
ClinGen gnomAD |
|
CA2171901 rs751486122 |
69 | I>K | No |
ClinGen ExAC |
|
rs764087400 CA351032190 |
70 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764087400 CA2171900 |
70 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762438390 COSM218714 CA2171899 |
71 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs764807480 CA2171897 |
71 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171898 rs764807480 |
71 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351032173 rs1247943513 |
73 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA351032160 rs1329515143 |
75 | A>T | No |
ClinGen gnomAD |
|
CA2171894 rs776814565 |
77 | A>S | No |
ClinGen ExAC gnomAD |
|
CA2171893 VAR_027289 rs2271703 |
78 | R>G | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA351032125 rs1475901682 |
80 | N>Y | No |
ClinGen TOPMed |
|
CA67007685 rs964666428 |
81 | P>T | No |
ClinGen Ensembl |
|
rs142598950 CA2171890 |
82 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM1017935 COSM1591951 rs142598950 CA2171889 |
82 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs182107541 CA67007670 |
83 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2171887 rs755210359 |
83 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs182107541 CA2171888 |
83 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2171886 rs749545128 |
84 | N>D | No |
ClinGen ExAC gnomAD |
|
rs757072044 CA2171884 |
85 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1376217871 CA351032095 |
85 | A>V | No |
ClinGen TOPMed |
|
CA351027644 rs1399407605 |
90 | D>E | No |
ClinGen gnomAD |
|
rs780310950 CA2171868 |
95 | G>R | No |
ClinGen ExAC gnomAD |
|
CA351027582 rs1386679844 |
96 | K>R | No |
ClinGen gnomAD |
|
CA2171867 rs769923544 |
97 | S>F | No |
ClinGen ExAC gnomAD |
|
CA2171864 rs758285407 |
100 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746751631 CA2171866 |
100 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171863 rs752611094 |
102 | L>R | No |
ClinGen ExAC gnomAD |
|
CA351027514 rs1261888291 |
103 | T>A | No |
ClinGen TOPMed |
|
rs753343643 CA2171861 |
103 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753343643 CA351027510 |
103 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753343643 CA2171860 |
103 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368019241 CA2171859 |
105 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1286616231 CA351027463 |
106 | I>N | No |
ClinGen TOPMed |
|
CA351027465 rs1286616231 |
106 | I>T | No |
ClinGen TOPMed |
|
CA351027459 rs1236437139 |
107 | P>A | No |
ClinGen TOPMed |
|
rs750775762 CA2171857 |
108 | W>R | No |
ClinGen ExAC gnomAD |
|
CA67041470 rs1047040561 |
109 | S>G | No |
ClinGen Ensembl |
|
CA2171855 rs762315072 |
109 | S>I | No |
ClinGen ExAC gnomAD |
|
CA2171856 rs762315072 |
109 | S>T | No |
ClinGen ExAC gnomAD |
|
CA351027411 rs1574644961 |
110 | R>* | No |
ClinGen Ensembl |
|
rs1159906056 CA351027405 |
110 | R>K | No |
ClinGen TOPMed |
|
rs769102964 CA2171853 |
111 | M>I | No |
ClinGen ExAC gnomAD |
|
CA351027390 rs769102964 |
111 | M>I | No |
ClinGen ExAC gnomAD |
|
rs4973588 CA351027393 |
111 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs4973588 VAR_027290 CA2171854 |
111 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1304335738 CA351027385 |
112 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs763031621 CA2171852 |
113 | P>S | No |
ClinGen ExAC gnomAD |
|
CA351027342 rs1366846850 |
114 | C>Y | No |
ClinGen gnomAD |
|
rs770021521 CA2171850 |
118 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1209817127 CA351027288 |
118 | M>V | No |
ClinGen gnomAD |
|
COSM1406325 rs746103889 CA2171849 COSM1406324 |
120 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA351027237 rs1454253541 |
120 | T>R | No |
ClinGen TOPMed |
|
rs1028768585 CA67041431 |
121 | D>E | No |
ClinGen gnomAD |
|
CA2171848 rs781445066 |
121 | D>V | No |
ClinGen ExAC gnomAD |
|
CA2171846 rs771826989 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
CA351027163 rs1490826296 |
124 | A>V | No |
ClinGen gnomAD |
|
rs1328957939 CA351027138 |
126 | E>K | No |
ClinGen TOPMed |
|
CA2171844 rs748000783 |
127 | M>T | No |
ClinGen ExAC gnomAD |
|
rs778806085 CA2171843 |
128 | S>N | No |
ClinGen ExAC gnomAD |
|
rs371268725 CA67007781 |
131 | S>P | No |
ClinGen ESP |
|
CA2171809 rs766517369 |
132 | S>F | No |
ClinGen ExAC gnomAD |
|
CA2171807 rs368810687 |
133 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2171808 rs760915088 |
133 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1456521794 CA351019117 |
134 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA351019121 rs1456521794 |
134 | P>Q | No |
ClinGen TOPMed gnomAD |
|
rs1437465485 CA351019075 |
137 | G>R | No |
ClinGen TOPMed |
|
CA351019061 rs1313029436 |
138 | A>T | No |
ClinGen TOPMed |
|
CA2171806 rs145839519 |
139 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1430711931 CA351019035 |
140 | P>S | No |
ClinGen gnomAD |
|
rs199654749 CA2171803 |
141 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2171801 rs780880266 |
144 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA67007752 rs200175226 |
145 | A>T | No |
ClinGen 1000Genomes |
|
rs78057440 CA67007749 |
146 | L>P | No |
ClinGen Ensembl |
|
rs1227862392 CA351018939 |
148 | D>N | No |
ClinGen gnomAD |
|
CA351018927 rs1319784299 |
149 | S>N | No |
ClinGen gnomAD |
|
rs1276107251 CA351018922 |
150 | P>T | No |
ClinGen gnomAD |
|
rs1015192346 CA67007748 |
151 | T>A | No |
ClinGen Ensembl |
|
rs765603135 CA2171795 |
152 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351018891 rs765603135 |
152 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753870377 CA351018887 |
153 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171793 rs753870377 |
153 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs549019621 CA351018866 |
155 | E>K | No |
ClinGen gnomAD |
|
CA67007731 rs549019621 |
155 | E>Q | No |
ClinGen gnomAD |
|
rs552768986 CA351018845 |
156 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs552768986 CA2171792 |
156 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA351018852 rs1390258346 |
156 | A>T | No |
ClinGen gnomAD |
|
rs1242058773 CA351018828 |
158 | R>Q | No |
ClinGen TOPMed |
|
CA67007704 rs200707014 |
160 | I>M | No |
ClinGen Ensembl |
|
rs1575020999 CA351018783 |
161 | H>P | No |
ClinGen Ensembl |
|
CA2171790 rs750577852 |
161 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1170423262 CA351018773 |
162 | P>S | No |
ClinGen gnomAD |
|
rs1481013943 CA351018747 |
164 | P>A | No |
ClinGen gnomAD |
|
CA2171789 rs767845515 |
166 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1449426109 CA351018707 |
167 | S>C | No |
ClinGen gnomAD |
|
CA2171787 rs775361804 |
172 | I>L | No |
ClinGen ExAC gnomAD |
|
CA2171788 rs775361804 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1195980824 CA351018637 |
175 | I>T | No |
ClinGen gnomAD |
|
rs1039461116 CA67004871 |
180 | Q>* | No |
ClinGen TOPMed |
|
CA2171772 rs756180289 |
183 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA2171770 rs767569783 |
186 | S>L | No |
ClinGen ExAC gnomAD |
|
rs553681634 CA67004859 |
187 | T>A | No |
ClinGen Ensembl |
|
rs1043271689 CA67004851 |
188 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA67004845 rs543404306 |
191 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2171767 rs543404306 |
191 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
COSM1406320 CA2171765 rs143001761 COSM1406321 |
192 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1344312878 CA351018011 |
193 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs146798173 CA2171764 |
197 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1158710674 CA351017973 |
199 | A>S | No |
ClinGen gnomAD |
|
rs1158710674 CA351017971 |
199 | A>T | No |
ClinGen gnomAD |
|
rs1421039937 CA351017961 |
200 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA67004827 rs868438355 |
202 | E>A | No |
ClinGen TOPMed gnomAD |
|
rs868438355 CA67004823 |
202 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA351017920 rs1444885497 |
206 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA2171763 rs760042186 |
207 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs559278273 CA2171761 |
208 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs747854821 CA2171760 |
209 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778585097 CA2171759 |
210 | A>D | No |
ClinGen ExAC gnomAD |
|
CA351017889 rs1355483444 |
211 | S>N | No |
ClinGen TOPMed |
|
rs374484969 CA2171756 |
215 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374484969 CA2171757 |
215 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1327509325 CA351017830 |
216 | E>G | No |
ClinGen gnomAD |
|
rs781354827 CA2171753 |
216 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171752 rs372485111 |
217 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1213933808 CA351017821 |
217 | E>Q | No |
ClinGen TOPMed |
|
CA351017796 rs1418441261 |
219 | E>K | No |
ClinGen gnomAD |
|
CA351017349 rs1358015158 |
222 | E>* | No |
ClinGen TOPMed gnomAD |
|
CA351017348 rs1358015158 |
222 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA2171748 rs754810990 |
223 | E>D | No |
ClinGen ExAC gnomAD |
|
CA351017316 rs1201042858 |
224 | E>D | No |
ClinGen TOPMed |
|
CA351017313 rs1415592015 |
225 | E>K | No |
ClinGen gnomAD |
|
CA351017296 rs1472374745 |
226 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1412042828 CA351017283 |
227 | P>A | No |
ClinGen TOPMed |
|
CA2171745 rs140010312 |
227 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2171743 rs760688982 |
231 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1487281619 CA351017239 |
231 | P>S | No |
ClinGen gnomAD |
|
CA2171742 rs772546094 |
232 | E>K | No |
ClinGen ExAC gnomAD |
|
CA351017195 rs1575017023 |
234 | K>N | No |
ClinGen Ensembl |
|
rs1288051471 CA351017163 |
237 | P>S | No |
ClinGen gnomAD |
|
rs761267991 CA2171741 |
238 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171740 rs761267991 |
238 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1363964261 CA351017110 |
240 | C>F | No |
ClinGen TOPMed |
|
rs1398627911 CA351017089 |
242 | L>F | No |
ClinGen gnomAD |
|
CA351017081 rs1340451434 |
242 | L>P | No |
ClinGen gnomAD |
|
CA2171737 rs749595725 |
243 | S>G | No |
ClinGen ExAC TOPMed |
|
CA351017043 rs1297032315 |
245 | P>R | No |
ClinGen gnomAD |
|
CA351017036 rs1436649906 |
246 | H>D | No |
ClinGen TOPMed gnomAD |
|
CA351017039 rs1436649906 |
246 | H>N | No |
ClinGen TOPMed gnomAD |
|
CA351017035 rs1436649906 |
246 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs139590629 CA2171736 |
248 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA351016970 rs1404432583 |
250 | N>H | No |
ClinGen gnomAD |
|
rs770151518 CA2171735 |
256 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1476763046 CA351016851 |
257 | E>K | No |
ClinGen gnomAD |
|
CA2171732 COSM1153757 COSM39636 rs757356334 |
259 | R>Q | large_intestine central_nervous_system endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
COSM1017924 rs781590948 CA2171733 COSM1153758 |
259 | R>W | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1425375804 CA351016806 |
260 | S>N | No |
ClinGen gnomAD |
|
CA2171731 rs747145607 |
260 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1476670443 CA351016793 |
261 | S>N | No |
ClinGen TOPMed |
|
CA2171729 rs758702126 |
262 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351016774 rs1575016930 |
263 | V>G | No |
ClinGen Ensembl |
|
CA351016778 rs1260315521 |
263 | V>M | No |
ClinGen gnomAD |
|
CA351016737 rs1165744600 |
266 | I>N | No |
ClinGen TOPMed |
|
CA2171726 rs375169428 |
268 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
rs767420117 CA2171724 |
270 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773863661 CA2171722 |
272 | I>T | No |
ClinGen ExAC gnomAD |
|
CA351016569 rs1399414798 |
276 | E>K | No |
ClinGen gnomAD |
|
CA351016566 rs1399414798 |
276 | E>Q | No |
ClinGen gnomAD |
|
rs1435643146 CA351032027 |
281 | L>V | No |
ClinGen TOPMed |
|
CA2171640 rs779792421 |
282 | V>F | No |
ClinGen ExAC gnomAD |
|
CA351032001 rs1195912218 |
284 | S>F | No |
ClinGen gnomAD |
|
CA2171638 rs750775779 |
286 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171636 rs757681473 |
288 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs764721677 CA2171634 |
290 | K>R | No |
ClinGen ExAC gnomAD |
|
CA2171633 rs762884887 |
291 | S>R | No |
ClinGen ExAC gnomAD |
|
rs974496140 CA351031938 |
294 | L>M | No |
ClinGen TOPMed |
|
rs1559196190 CA351031935 |
294 | L>P | No |
ClinGen Ensembl |
|
rs1194385125 CA351031933 |
295 | L>V | No |
ClinGen gnomAD |
|
CA67034159 rs780444133 |
297 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs267599265 CA67034139 |
300 | M>I | No |
ClinGen Ensembl |
|
CA2171630 rs759780655 |
300 | M>T | No |
ClinGen ExAC |
|
rs765407318 CA2171631 |
300 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1436671055 CA351031877 |
303 | E>K | No |
ClinGen gnomAD |
|
rs754227975 CA2171628 |
304 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1351329981 CA351031869 |
304 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1460772653 CA351031862 |
305 | I>K | No |
ClinGen gnomAD |
|
rs138598670 CA2171625 |
311 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs183477550 CA2171621 |
314 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA351031789 rs1260420088 |
316 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA2171618 rs576119488 |
316 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA67034071 rs569496752 |
321 | V>I | No |
ClinGen gnomAD |
|
rs1300856901 CA351031740 COSM1482876 COSM442489 |
324 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs765282880 CA2171614 |
326 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171610 rs766678125 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
rs774199056 CA2171608 |
330 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs761455816 CA67034042 |
330 | R>W | No |
ClinGen ExAC gnomAD |
|
CA2171573 rs200148193 |
332 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201072229 CA67032694 |
336 | E>K | No |
ClinGen 1000Genomes |
|
rs779331699 CA351031638 |
337 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs779331699 CA2171571 |
337 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs749285120 CA2171569 |
338 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171570 rs755477382 |
338 | R>W | No |
ClinGen ExAC gnomAD |
|
CA351031629 rs1574993869 |
339 | M>R | No |
ClinGen Ensembl |
|
CA351031630 rs1574993869 |
339 | M>T | No |
ClinGen Ensembl |
|
CA2171567 rs146885458 |
343 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA351031600 rs1477837303 |
343 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs140583128 CA2171565 |
344 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA67032658 rs947869169 |
347 | D>N | No |
ClinGen TOPMed |
|
CA2171563 rs146544382 |
348 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA351031543 rs895432 |
351 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2171561 rs765228971 |
352 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376745755 CA2171560 |
354 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
rs765885436 CA2171558 |
354 | R>H | No |
ClinGen ExAC gnomAD |
|
rs376745755 CA2171559 |
354 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
CA351031522 rs1293546073 |
355 | Y>C | No |
ClinGen gnomAD |
|
CA2171557 rs760174723 |
356 | A>V | No |
ClinGen ExAC gnomAD |
|
rs748442344 CA2171554 |
358 | D>G | No |
ClinGen ExAC gnomAD |
|
CA67032566 rs923626488 |
358 | D>N | No |
ClinGen TOPMed |
|
rs1394240809 CA351031497 |
359 | H>R | No |
ClinGen gnomAD |
|
CA351031465 rs1374226448 |
364 | I>V | No |
ClinGen gnomAD |
|
CA351031443 rs368820247 |
367 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368820247 CA2171551 COSM1017917 COSM1591956 |
367 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA2171550 rs749779181 |
369 | N>S | No |
ClinGen ExAC gnomAD |
|
CA351031424 rs1195233160 |
370 | Q>* | No |
ClinGen gnomAD |
|
CA351031421 rs1466939949 |
370 | Q>P | No |
ClinGen gnomAD |
|
CA2171549 rs757633862 |
371 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171548 rs756205880 |
372 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA67032520 rs985645281 |
375 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA351031388 rs752687283 |
375 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA2171547 rs745949568 |
376 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171517 rs756040306 |
384 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1394164590 CA351031299 |
386 | A>G | No |
ClinGen gnomAD |
|
CA2171515 rs199823442 |
388 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2171514 rs199823442 |
388 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749889360 CA2171516 |
388 | R>W | No |
ClinGen ExAC gnomAD |
|
CA2171511 rs371214944 |
392 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377471982 CA2171510 |
392 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA351031252 rs1168176681 |
394 | L>P | No |
ClinGen TOPMed |
|
rs1225717174 CA351031246 |
395 | E>G | No |
ClinGen gnomAD |
|
CA2171507 rs140666386 |
397 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA351031217 rs1246084414 |
399 | K>N | No |
ClinGen gnomAD |
|
rs778088014 CA2171504 |
404 | P>L | No |
ClinGen ExAC gnomAD |
|
CA351031080 rs1157845742 |
420 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA2171501 rs141137644 |
423 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA351031002 rs1436800049 |
430 | V>A | No |
ClinGen gnomAD |
|
rs933576475 CA67027570 |
430 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs933576475 CA67027565 |
430 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA2171470 rs755332968 |
432 | E>K | No |
ClinGen ExAC gnomAD |
|
CA351030983 rs1574988661 |
433 | R>K | No |
ClinGen Ensembl |
|
CA2171467 rs766957139 |
434 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171466 rs761289065 |
435 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs572634482 CA2171463 |
436 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs572634482 CA2171464 |
436 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2171465 rs770729567 |
436 | R>W | No |
ClinGen ExAC gnomAD |
|
rs774424502 CA2171461 |
438 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA67027475 rs887729139 |
439 | T>P | No |
ClinGen TOPMed gnomAD |
|
rs745622157 CA2171459 |
442 | D>G | No |
ClinGen ExAC |
|
CA67027457 rs1049431330 |
442 | D>N | No |
ClinGen TOPMed gnomAD |
|
COSM1406310 COSM71832 CA351030907 rs1559192177 |
445 | K>R | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA2171457 rs770760419 |
448 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1399586944 CA351030881 |
449 | M>K | No |
ClinGen TOPMed |
|
rs746915675 CA2171456 |
449 | M>V | No |
ClinGen ExAC gnomAD |
|
CA351030735 rs1415009191 |
451 | V>A | No |
ClinGen gnomAD |
|
CA67024204 rs956384030 |
453 | A>S | No |
ClinGen Ensembl |
|
rs909834267 CA67024199 |
453 | A>V | No |
ClinGen TOPMed |
|
CA2171426 rs781486550 |
454 | C>S | No |
ClinGen ExAC gnomAD |
|
rs764125173 CA2171423 |
456 | E>D | No |
ClinGen ExAC gnomAD |
|
CA2171424 rs752055877 |
456 | E>G | No |
ClinGen ExAC gnomAD |
|
CA2171421 COSM1217265 COSM1217266 rs144108657 |
458 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA2171420 rs765456476 |
459 | R>K | No |
ClinGen ExAC gnomAD |
|
rs149464057 CA2171419 |
461 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1228310202 CA351030574 |
462 | S>T | No |
ClinGen gnomAD |
|
CA351030566 rs1309453054 |
463 | R>C | No |
ClinGen gnomAD |
|
rs1293653144 COSM1017913 COSM1591957 CA351030564 |
463 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA351030551 rs1372115773 |
464 | T>M | No |
ClinGen gnomAD |
|
CA351030546 rs1439321668 |
465 | E>Q | No |
ClinGen gnomAD |
|
rs1162092635 CA351030498 |
467 | M>I | No |
ClinGen gnomAD |
|
CA2171416 rs369986799 |
467 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774473093 CA2171415 |
468 | I>F | No |
ClinGen ExAC gnomAD |
|
CA351030472 rs1374317614 |
469 | S>N | No |
ClinGen gnomAD |
|
rs1466207836 CA351030427 |
472 | K>E | No |
ClinGen TOPMed |
|
CA351030421 rs1448503004 |
472 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1195331837 CA351030405 |
473 | K>R | No |
ClinGen gnomAD |
|
CA67024042 rs967876001 |
474 | M>I | No |
ClinGen Ensembl |
|
rs779796433 CA2171412 |
475 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1426212635 CA351030321 |
478 | I>N | No |
ClinGen TOPMed |
|
rs776211256 CA2171392 |
480 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1327310884 CA351030276 |
483 | I>T | No |
ClinGen TOPMed |
|
rs778184431 CA2171389 |
487 | S>P | No |
ClinGen ExAC gnomAD |
|
CA67022730 rs776811408 |
488 | R>H | No |
ClinGen gnomAD |
|
rs1314281329 CA351030220 |
492 | K>T | No |
ClinGen gnomAD |
|
rs372210599 CA67022727 |
495 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
rs1026231001 CA67022714 |
499 | M>I | No |
ClinGen Ensembl |
|
rs1268829812 CA351030173 |
499 | M>L | No |
ClinGen TOPMed |
|
rs1427152719 CA351030156 |
501 | G>D | No |
ClinGen Ensembl |
|
rs757020546 CA2171382 |
506 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs766571072 CA2171383 |
506 | R>W | No |
ClinGen ExAC gnomAD |
|
rs570697270 CA351030064 |
515 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2171379 COSM1017909 COSM1591958 COSM1692182 rs763007458 |
516 | E>K | skin endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA351030043 rs1574984561 |
518 | Y>S | No |
ClinGen Ensembl |
|
CA2171377 rs145097371 |
523 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs770491177 CA2171375 |
525 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770491177 CA2171374 |
525 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171373 rs747329923 |
527 | V>L | No |
ClinGen ExAC gnomAD |
|
CA351029989 rs747329923 |
527 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1339568732 CA351029985 |
528 | I>L | No |
ClinGen gnomAD |
|
rs61748689 CA2171372 |
528 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1225956662 CA351029970 |
530 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA2171370 COSM3391575 rs748626476 COSM3391573 COSM3391574 |
530 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA351029747 rs1397895414 |
538 | Q>E | No |
ClinGen TOPMed |
|
CA67022006 rs61729908 |
539 | V>G | No |
ClinGen Ensembl |
|
rs1304775412 CA351029741 |
539 | V>I | No |
ClinGen TOPMed |
|
CA2171351 rs769049853 |
542 | S>L | No |
ClinGen ExAC gnomAD |
|
CA2171350 rs141871026 |
544 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA351029707 rs1296559031 |
544 | P>S | No |
ClinGen gnomAD |
|
rs1435678412 CA351029701 |
545 | R>Q | No |
ClinGen gnomAD |
|
CA2171348 rs770043531 |
545 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351029687 rs1574983985 |
548 | L>R | No |
ClinGen Ensembl |
|
CA351029682 rs1428057021 |
549 | R>C | No |
ClinGen gnomAD |
|
CA67021948 rs113037652 |
550 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171345 rs113037652 |
550 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351029667 rs752436267 |
551 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1574983954 CA351029662 |
552 | E>G | No |
ClinGen Ensembl |
|
rs1574983939 CA351029654 |
553 | L>R | No |
ClinGen Ensembl |
|
CA2171342 rs754892092 |
555 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1157789051 CA351029641 |
555 | D>V | No |
ClinGen gnomAD |
|
rs1206061955 CA351029611 |
559 | T>M | No |
ClinGen gnomAD |
|
rs1206061955 CA351029612 |
559 | T>R | No |
ClinGen gnomAD |
|
rs554390366 CA67021889 |
562 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
rs554390366 CA351029596 |
562 | N>T | No |
ClinGen 1000Genomes gnomAD |
|
rs762099439 CA2171336 |
563 | V>M | No |
ClinGen ExAC gnomAD |
|
CA351029578 rs1374049431 |
565 | I>V | No |
ClinGen gnomAD |
|
rs1349988015 CA351029566 |
567 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs769159775 CA2171334 |
567 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1052387210 CA67021850 |
570 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA2171332 rs138129440 |
571 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs745959146 CA2171330 |
572 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA67021808 rs370768595 |
575 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
rs776926060 CA2171329 |
575 | R>W | No |
ClinGen ExAC gnomAD |
|
rs771305646 CA2171328 |
576 | E>K | No |
ClinGen ExAC gnomAD |
|
rs747924073 CA2171327 |
577 | A>T | No |
ClinGen ExAC gnomAD |
|
rs778547108 CA2171326 |
578 | T>I | No |
ClinGen ExAC gnomAD |
|
CA351029503 rs1574983798 |
578 | T>P | No |
ClinGen Ensembl |
|
CA2171322 rs755566882 |
584 | S>F | No |
ClinGen ExAC gnomAD |
|
CA2171323 rs755566882 |
584 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA351029320 rs889744504 |
586 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1367292378 CA351029304 |
587 | S>N | No |
ClinGen TOPMed |
|
rs1020283910 CA67020363 |
589 | M>K | No |
ClinGen TOPMed |
|
CA67020360 rs764647434 |
591 | R>C | No |
ClinGen Ensembl |
|
CA67020351 rs1050106677 |
591 | R>H | No |
ClinGen TOPMed |
|
CA351029183 rs1211596607 |
592 | W>* | No |
ClinGen gnomAD |
|
rs1487508374 COSM1017903 COSM1591961 CA351029105 |
597 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1425270066 CA351029098 |
597 | A>V | No |
ClinGen gnomAD |
|
rs777316248 CA2171293 |
602 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA67020303 rs746642364 |
602 | T>I | No |
ClinGen Ensembl |
|
CA351028965 rs1406769034 |
604 | F>L | No |
ClinGen Ensembl |
|
rs1445507909 CA351028961 |
605 | V>L | No |
ClinGen TOPMed |
|
rs760869922 CA2171291 |
608 | T>I | No |
ClinGen ExAC gnomAD |
|
rs772347533 CA2171289 |
610 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1306214695 CA351028891 |
610 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA2171264 rs777312558 |
614 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351028300 rs1230778567 |
618 | Q>H | No |
ClinGen gnomAD |
|
rs1408834259 CA351028262 |
620 | V>A | No |
ClinGen gnomAD |
|
rs147833836 CA351028269 |
620 | V>L | No |
ClinGen ESP gnomAD |
|
rs147833836 CA67019420 |
620 | V>M | No |
ClinGen ESP gnomAD |
|
CA351028246 rs1574981504 |
621 | H>P | No |
ClinGen Ensembl |
|
rs1335911860 CA351028227 |
622 | P>S | No |
ClinGen gnomAD |
|
rs140478097 CA67019350 |
623 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
rs778762741 CA2171261 |
623 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367563758 CA2171259 |
624 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1187883871 CA351028147 |
627 | Q>H | No |
ClinGen TOPMed |
|
CA351028108 rs1475647478 |
633 | L>R | No |
ClinGen gnomAD |
|
CA2171254 rs757395688 |
636 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1262884309 CA351028089 |
636 | A>V | No |
ClinGen gnomAD |
|
CA2171252 rs558838324 |
637 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1265658610 CA351028077 |
638 | I>T | No |
ClinGen gnomAD |
|
rs1404101626 CA351028072 |
639 | L>F | No |
ClinGen TOPMed |
|
rs374536644 CA2171250 |
643 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
rs753016089 CA2171249 |
646 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351028025 rs1405415688 |
646 | D>Y | No |
ClinGen gnomAD |
|
CA2171246 rs148413660 |
647 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2171247 rs773087145 |
647 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351028019 rs773087145 |
647 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171220 rs373244789 |
648 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2171244 rs774084146 |
648 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1477337676 CA351027994 |
649 | W>* | No |
ClinGen TOPMed |
|
rs1016757345 CA67017421 |
650 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs1386494723 CA351027984 |
651 | F>I | No |
ClinGen TOPMed |
|
CA351027965 rs1351217421 |
653 | E>D | No |
ClinGen gnomAD |
|
COSM3743671 CA2171216 COSM3743672 rs544040415 COSM3743670 |
653 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA2171217 rs544040415 |
653 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2171215 rs752947664 |
654 | R>C | No |
ClinGen ExAC gnomAD |
|
COSM3743669 CA2171214 COSM3743667 COSM3743668 rs779013074 |
654 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs375499710 CA351027946 |
657 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
CA2171212 rs375499710 |
657 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
CA2171209 rs370220062 |
660 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1347266632 CA351027909 |
662 | W>* | No |
ClinGen gnomAD |
|
CA351027897 rs1251924783 |
663 | F>L | No |
ClinGen gnomAD |
|
rs763693670 CA2171208 |
663 | F>V | No |
ClinGen ExAC gnomAD |
|
rs900304393 CA67017361 |
664 | P>L | No |
ClinGen Ensembl |
|
rs769360646 CA2171206 |
665 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1250757132 CA351027890 |
665 | S>N | No |
ClinGen gnomAD |
|
rs769360646 CA2171205 |
665 | S>R | No |
ClinGen ExAC gnomAD |
|
CA2171203 rs568393927 |
667 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351027865 rs1276368277 |
669 | E>K | No |
ClinGen gnomAD |
|
rs1559186972 CA351027838 |
672 | L>S | No |
ClinGen Ensembl |
|
CA2171201 rs747506129 |
673 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs942810484 CA67017312 |
674 | P>T | No |
ClinGen Ensembl |
|
rs1408223710 CA351027808 |
677 | R>G | No |
ClinGen gnomAD |
|
rs772128910 CA2171199 COSM673881 |
677 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1408223710 CA351027807 |
677 | R>W | No |
ClinGen gnomAD |
|
rs1267121405 CA351027780 |
681 | L>F | No |
ClinGen TOPMed |
|
CA2171197 rs779159365 |
683 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA2171195 rs754143307 |
686 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351027742 rs754143307 |
686 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171194 rs781107163 |
687 | V>D | No |
ClinGen ExAC gnomAD |
|
CA67017251 rs201463795 |
688 | H>Y | No |
ClinGen Ensembl |
|
rs374486398 CA2171192 |
690 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2171193 rs757186005 |
690 | M>T | No |
ClinGen ExAC gnomAD |
|
CA351027702 rs1574979589 |
692 | D>A | No |
ClinGen Ensembl |
|
CA351027695 rs1472660764 |
693 | P>S | No |
ClinGen TOPMed |
|
CA2171191 rs138621391 |
695 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs572449644 CA2171190 |
695 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA351027654 rs1235532050 |
698 | N>K | No |
ClinGen gnomAD |
|
rs764850072 CA2171188 |
699 | K>N | No |
ClinGen ExAC gnomAD |
|
CA351027624 rs1574979535 |
700 | D>A | No |
ClinGen Ensembl |
|
rs555521547 CA2171187 |
700 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2171185 rs771268988 |
701 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA351027602 COSM1017899 rs1328624341 COSM1406305 |
701 | R>H | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs771268988 CA351027608 |
701 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA67017206 rs761037996 |
704 | L>M | No |
ClinGen ExAC gnomAD |
|
CA351027564 rs761037996 |
704 | L>V | No |
ClinGen ExAC gnomAD |
|
rs773023462 CA67017185 |
705 | G>C | No |
ClinGen Ensembl |
|
rs974698300 CA67017183 |
706 | S>N | No |
ClinGen Ensembl |
|
rs748212920 COSM3380085 COSM3380087 COSM3380086 CA2171181 |
707 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs145959108 CA2171182 |
707 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA351027502 rs1302703360 |
708 | N>T | No |
ClinGen gnomAD |
|
rs771713745 CA2171179 |
709 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2171180 rs778839323 |
709 | R>W | No |
ClinGen ExAC gnomAD |
|
CA351027446 rs1460606191 |
710 | Q>* | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q8N5V2
5 regional properties for Q8N5V2
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR12845 | GUANINE NUCLEOTIDE EXCHANGE FACTOR |
PANTHER Subfamily | PTHR12845:SF8 | EPHEXIN-1 |
PANTHER Protein Class |
guanyl-nucleotide exchange factor
G-protein modulator protein-binding activity modulator |
|
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
1 GO annotations of molecular function
Name | Definition |
---|---|
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
7 GO annotations of biological process
Name | Definition |
---|---|
activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
ephrin receptor signaling pathway | The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
negative regulation of dendritic spine morphogenesis | Any process that decreases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
12 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A5YM69 | ARHGEF35 | Rho guanine nucleotide exchange factor 35 | Homo sapiens (Human) | PR |
Q8IW93 | ARHGEF19 | Rho guanine nucleotide exchange factor 19 | Homo sapiens (Human) | SS |
Q5VV41 | ARHGEF16 | Rho guanine nucleotide exchange factor 16 | Homo sapiens (Human) | PR |
O94989 | ARHGEF15 | Rho guanine nucleotide exchange factor 15 | Homo sapiens (Human) | SS |
Q12774 | ARHGEF5 | Rho guanine nucleotide exchange factor 5 | Homo sapiens (Human) | EV |
Q96DR7 | ARHGEF26 | Rho guanine nucleotide exchange factor 26 | Homo sapiens (Human) | SS |
E9Q7D5 | Arhgef5 | Rho guanine nucleotide exchange factor 5 | Mus musculus (Mouse) | SS |
Q3U5C8 | Arhgef16 | Rho guanine nucleotide exchange factor 16 | Mus musculus (Mouse) | PR |
Q5FWH6 | Arhgef15 | Rho guanine nucleotide exchange factor 15 | Mus musculus (Mouse) | SS |
Q8BWA8 | Arhgef19 | Rho guanine nucleotide exchange factor 19 | Mus musculus (Mouse) | PR |
Q8CHT1 | Ngef | Ephexin-1 | Mus musculus (Mouse) | SS |
Q5BKC9 | Ngef | Ephexin-1 | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
METRESEDLE | KTRRKSASDQ | WNTDNEPAKV | KPELLPEKEE | TSQADQDIQD | KEPHCHIPIK |
70 | 80 | 90 | 100 | 110 | 120 |
RNSIFNRSIR | RKSKAKARDN | PERNASCLAD | SQDNGKSVNE | PLTLNIPWSR | MPPCRTAMQT |
130 | 140 | 150 | 160 | 170 | 180 |
DPGAQEMSES | SSTPGNGATP | EEWPALADSP | TTLTEALRMI | HPIPADSWRN | LIEQIGLLYQ |
190 | 200 | 210 | 220 | 230 | 240 |
EYRDKSTLQE | IETRRQQDAE | IEDNTNGSPA | SEDTPEEEEE | EEEEEEPASP | PERKTLPQIC |
250 | 260 | 270 | 280 | 290 | 300 |
LLSNPHSRFN | LWQDLPEIRS | SGVLEILQPE | EIKLQEAMFE | LVTSEASYYK | SLNLLVSHFM |
310 | 320 | 330 | 340 | 350 | 360 |
ENERIRKILH | PSEAHILFSN | VLDVLAVSER | FLLELEHRME | ENIVISDVCD | IVYRYAADHF |
370 | 380 | 390 | 400 | 410 | 420 |
SVYITYVSNQ | TYQERTYKQL | LQEKAAFREL | IAQLELDPKC | RGLPFSSFLI | LPFQRITRLK |
430 | 440 | 450 | 460 | 470 | 480 |
LLVQNILKRV | EERSERECTA | LDAHKELEMV | VKACNEGVRK | MSRTEQMISI | QKKMEFKIKS |
490 | 500 | 510 | 520 | 530 | 540 |
VPIISHSRWL | LKQGELQQMS | GPKTSRTLRT | KKLFHEIYLF | LFNDLLVICR | QIPGDKYQVF |
550 | 560 | 570 | 580 | 590 | 600 |
DSAPRGLLRV | EELEDQGQTL | ANVFILRLLE | NADDREATYM | LKASSQSEMK | RWMTSLAPNR |
610 | 620 | 630 | 640 | 650 | 660 |
RTKFVSFTSR | LLDCPQVQCV | HPYVAQQPDE | LTLELADILN | ILDKTDDGWI | FGERLHDQER |
670 | 680 | 690 | 700 | ||
GWFPSSMTEE | ILNPKIRSQN | LKECFRVHKM | DDPQRSQNKD | RRKLGSRNRQ |