A6NFY4
Gene name |
NEMP2 (TMEM194B) |
Protein name |
Nuclear envelope integral membrane protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:100131211 |
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 A6NFY4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NFY4-F1 | Predicted | AlphaFoldDB |
277 variants for A6NFY4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2028766 rs13412879 |
2 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1368797351 CA349997514 |
2 | G>V | No |
ClinGen gnomAD |
|
|
rs1389754083 CA349997505 |
4 | R>C | No |
ClinGen TOPMed |
|
|
CA349997502 rs1397432487 |
4 | R>H | No |
ClinGen gnomAD |
|
|
rs1397432487 COSM4139140 CA349997504 |
4 | R>L | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA349997492 rs1466043455 CA349997493 |
6 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA349997483 rs1173922195 |
7 | R>L | No |
ClinGen gnomAD |
|
|
CA349997486 rs1377027158 |
7 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1434651758 CA349997465 |
9 | W>C | No |
ClinGen gnomAD |
|
|
CA349997464 rs1267878441 |
10 | L>M | No |
ClinGen gnomAD |
|
|
CA349997461 rs1178239584 |
10 | L>P | No |
ClinGen gnomAD |
|
|
rs1038101322 CA62950525 |
11 | L>P | No |
ClinGen Ensembl |
|
|
rs940321097 CA62950523 |
13 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs897579732 CA62950524 |
13 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA349997431 rs1263779167 |
16 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1174997639 CA349997413 |
18 | A>V | No |
ClinGen TOPMed |
|
|
CA349997403 rs1475519287 |
20 | L>P | No |
ClinGen TOPMed |
|
|
rs1356511026 CA349997386 |
23 | R>H | No |
ClinGen TOPMed |
|
|
CA349997385 rs1356511026 |
23 | R>P | No |
ClinGen TOPMed |
|
|
rs755350873 CA62950520 |
24 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755350873 CA349997382 |
24 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2028764 rs756949365 |
25 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA62950519 rs370393421 |
26 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349997361 rs1374240226 |
27 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349997349 rs1215536715 |
29 | A>V | No |
ClinGen TOPMed |
|
|
rs1273350007 CA349997342 |
31 | L>I | No |
ClinGen TOPMed |
|
|
rs1485707826 CA349997330 |
32 | S>* | No |
ClinGen TOPMed |
|
|
rs1228594458 CA349997329 |
33 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA62949546 rs1046582006 |
34 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA349996660 rs1375260816 |
34 | R>H | No |
ClinGen TOPMed |
|
|
rs1375260816 CA349996657 |
34 | R>L | No |
ClinGen TOPMed |
|
|
CA349996642 rs1489471321 |
35 | R>S | No |
ClinGen gnomAD |
|
|
rs747996696 CA62949545 |
35 | R>T | No |
ClinGen Ensembl |
|
|
CA2028751 rs774588641 |
36 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349996609 rs1407836367 |
38 | A>G | No |
ClinGen TOPMed |
|
|
rs1287636601 CA349996597 |
39 | L>S | No |
ClinGen TOPMed |
|
|
CA62949544 rs979081073 |
44 | L>* | No |
ClinGen TOPMed |
|
|
rs1205292575 CA349996504 |
45 | I>V | No |
ClinGen gnomAD |
|
|
rs1355212851 CA349996486 |
46 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349996480 rs769096217 |
47 | T>A | No |
ClinGen TOPMed |
|
|
rs764081214 CA349996475 |
47 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764081214 CA2028750 |
47 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769096217 CA62949543 |
47 | T>P | No |
ClinGen TOPMed |
|
|
CA349996456 rs1355595243 |
48 | S>F | No |
ClinGen gnomAD |
|
|
rs1277483427 CA349996391 |
53 | Y>H | No |
ClinGen gnomAD |
|
|
rs775360448 CA2028748 |
53 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA349996289 rs1342083029 |
56 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349996273 rs1318733548 |
57 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs984493198 CA62949542 |
58 | N>T | No |
ClinGen TOPMed |
|
|
rs1413180352 CA349996243 |
60 | Q>* | No |
ClinGen TOPMed |
|
|
rs1404949654 CA349996236 |
60 | Q>R | No |
ClinGen gnomAD |
|
|
CA349996198 rs1388876501 |
63 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62949541 rs778767023 |
66 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1423085905 CA349996126 |
67 | W>R | No |
ClinGen gnomAD |
|
|
CA349996093 rs1353033870 |
69 | T>A | No |
ClinGen TOPMed |
|
|
CA62948990 rs780609640 |
74 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA349995920 rs1483545296 |
76 | S>T | No |
ClinGen TOPMed |
|
|
CA62948989 rs946147900 |
78 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA349995905 rs1200479857 |
79 | L>M | No |
ClinGen gnomAD |
|
|
CA349995898 rs1468646412 |
80 | F>V | No |
ClinGen gnomAD |
|
|
CA349995892 rs1574302324 |
81 | R>G | No |
ClinGen Ensembl |
|
|
rs184187225 CA2028737 |
83 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756587406 CA2028736 |
85 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2028735 rs370283521 |
86 | A>T | Variant assessed as Somatic; 6.258e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2028733 rs757547291 |
90 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs751789976 CA2028732 |
94 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2028731 rs764377239 |
98 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1029279177 CA62948987 |
101 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1449058850 CA349995744 |
102 | K>R | No |
ClinGen gnomAD |
|
|
CA349995719 rs974809341 |
106 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs963039707 CA62948985 |
106 | H>Q | No |
ClinGen TOPMed |
|
|
CA349995716 rs1413280262 |
106 | H>R | No |
ClinGen gnomAD |
|
|
CA62948986 rs974809341 |
106 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs775621267 CA2028728 |
107 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765360219 CA2028727 |
108 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759579269 CA2028726 |
112 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA349995672 rs1325489773 |
112 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1212122753 CA349995668 |
113 | E>* | No |
ClinGen TOPMed |
|
|
rs1254199484 CA349995665 |
113 | E>G | No |
ClinGen TOPMed |
|
|
rs1485034731 CA349995658 |
114 | S>C | No |
ClinGen TOPMed |
|
|
CA2028724 rs192032539 |
116 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746806470 CA349995603 |
122 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs866635317 CA62948984 |
122 | N>K | No |
ClinGen Ensembl |
|
|
CA2028723 rs746806470 |
122 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA349995589 rs1174519690 |
124 | Y>* | No |
ClinGen TOPMed |
|
|
rs1416570431 CA349995592 |
124 | Y>C | No |
ClinGen TOPMed |
|
|
CA62948982 rs1022332083 |
125 | R>G | No |
ClinGen Ensembl |
|
|
CA349995586 rs1375409527 |
125 | R>T | No |
ClinGen TOPMed |
|
|
CA349995577 rs1234773458 |
126 | E>G | No |
ClinGen gnomAD |
|
|
rs1352775371 CA349995551 |
130 | F>I | No |
ClinGen gnomAD |
|
|
CA349995496 rs1374077122 |
138 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2028722 rs558356478 |
139 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349995472 rs1446412045 |
141 | Y>S | No |
ClinGen gnomAD |
|
|
rs1314078107 CA349995447 |
142 | M>I | No |
ClinGen gnomAD |
|
|
CA349995454 rs1361430176 |
142 | M>V | No |
ClinGen gnomAD |
|
|
CA349995428 rs1275715401 |
144 | H>D | No |
ClinGen TOPMed |
|
|
rs771722181 CA2028721 |
145 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2028720 rs747659845 |
147 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA349995384 rs866695882 |
147 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA62948981 COSM3425880 rs866695882 |
147 | R>Q | large_intestine Variant assessed as Somatic; 5.976e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1477457506 CA349995307 |
150 | M>L | No |
ClinGen gnomAD |
|
|
rs1477457506 CA349995308 |
150 | M>V | No |
ClinGen gnomAD |
|
|
CA349995260 rs1403807121 |
152 | F>L | No |
ClinGen TOPMed |
|
|
CA349995252 rs1325522958 |
153 | K>E | No |
ClinGen TOPMed |
|
|
rs759632181 CA2028708 |
156 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2028707 rs753883894 |
156 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559160877 CA349995160 |
160 | A>T | No |
ClinGen Ensembl |
|
|
rs760426050 CA2028703 |
162 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219730025 CA349995118 |
163 | F>L | No |
ClinGen gnomAD |
|
|
CA2028699 rs199878689 |
164 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146103983 CA62948966 |
165 | F>L | No |
ClinGen 1000Genomes |
|
|
rs201105504 CA62948965 |
165 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs202060494 CA2028698 |
165 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349995057 rs974990327 |
167 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs773922713 CA2028696 |
167 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs748795957 CA2028694 |
168 | A>G | No |
ClinGen ExAC |
|
|
rs768165225 CA2028695 |
168 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200187690 CA2028692 CA62948963 |
169 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62948962 rs978324856 |
170 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1318989948 CA349995047 |
170 | T>P | No |
ClinGen TOPMed |
|
|
CA62948961 rs968313866 |
171 | L>M | No |
ClinGen TOPMed |
|
|
rs778232592 CA2028690 |
175 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758625606 CA2028689 |
178 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA62948861 rs758625606 |
178 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA2028688 rs571200788 |
181 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182625912 CA349994592 |
182 | G>A | No |
ClinGen TOPMed |
|
|
rs1299661337 CA349994589 |
183 | T>A | No |
ClinGen gnomAD |
|
|
rs182544907 CA62948859 |
186 | G>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1420293738 CA762368715 |
186 | G>F | No |
ClinGen TOPMed |
|
|
rs1372752572 CA349994572 |
186 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1372752572 CA349994571 |
186 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1410437053 CA349994562 |
188 | L>I | No |
ClinGen TOPMed |
|
|
CA349994560 rs1359762826 |
188 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA349994539 rs1454732883 |
191 | L>S | No |
ClinGen Ensembl |
|
|
rs1299797384 CA349994517 |
194 | V>A | No |
ClinGen gnomAD |
|
|
rs940041383 CA62948855 |
198 | V>G | No |
ClinGen Ensembl |
|
|
rs1559159870 CA349994481 |
200 | R>T | No |
ClinGen Ensembl |
|
|
rs908603941 CA62948854 |
201 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1455711855 CA349994463 |
202 | I>M | No |
ClinGen gnomAD |
|
|
CA349994467 rs1293457123 |
202 | I>V | No |
ClinGen TOPMed |
|
|
CA62948853 rs984156058 |
203 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1327437781 CA349994418 |
207 | T>N | No |
ClinGen TOPMed |
|
|
CA349994401 rs1301069983 |
209 | W>* | No |
ClinGen gnomAD |
|
|
CA2028683 rs766276124 |
210 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2028682 rs766276124 |
210 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349994383 rs1375910897 |
212 | M>I | No |
ClinGen gnomAD |
|
|
CA62948736 rs899819504 |
212 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA62948735 rs1018301388 |
214 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1235134041 CA349994363 |
215 | C>W | No |
ClinGen TOPMed |
|
|
CA349994354 rs1282635543 |
216 | W>C | No |
ClinGen TOPMed |
|
|
CA349994330 rs1438082873 |
220 | V>A | No |
ClinGen gnomAD |
|
|
CA62948734 rs534564363 |
220 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA349994324 rs1200134945 |
221 | Y>C | No |
ClinGen TOPMed |
|
|
CA349994314 rs1008728641 |
222 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA349994316 rs1182662166 |
222 | I>T | No |
ClinGen gnomAD |
|
|
rs1379992013 CA349994319 |
222 | I>V | No |
ClinGen gnomAD |
|
|
rs891251532 CA62948732 |
223 | V>L | No |
ClinGen gnomAD |
|
|
rs200073518 CA2028681 |
224 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750284004 CA2028680 |
232 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2028679 rs767344371 |
234 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs757244837 CA62948731 |
235 | Y>* | No |
ClinGen Ensembl |
|
|
rs1261925234 CA349994224 |
235 | Y>C | No |
ClinGen gnomAD |
|
|
rs761455719 CA2028678 |
235 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs900915920 CA62948730 |
236 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1239115762 CA349994208 |
237 | N>K | No |
ClinGen gnomAD |
|
|
rs1339409522 CA349994193 |
239 | I>M | No |
ClinGen gnomAD |
|
|
rs1291361110 CA349994175 |
242 | L>S | No |
ClinGen gnomAD |
|
|
rs890216513 CA62948574 |
245 | V>I | No |
ClinGen Ensembl |
|
|
rs185699992 CA62948573 |
254 | V>L | No |
ClinGen 1000Genomes |
|
|
rs1051224178 CA62948572 |
257 | Y>C | No |
ClinGen Ensembl |
|
|
rs1355023786 CA349994062 |
257 | Y>H | No |
ClinGen gnomAD |
|
|
CA349994055 rs1202656871 |
258 | K>E | No |
ClinGen TOPMed |
|
|
CA349994056 rs1202656871 |
258 | K>Q | No |
ClinGen TOPMed |
|
|
CA349994008 rs1053351879 |
265 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM3425878 rs1053351879 CA62948569 |
265 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA62948568 rs536901665 |
268 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA349993970 rs1428348912 |
270 | L>V | No |
ClinGen gnomAD |
|
|
rs570076014 CA62948566 |
272 | M>I | No |
ClinGen 1000Genomes |
|
|
rs368280071 CA62948567 |
272 | M>T | No |
ClinGen ESP TOPMed |
|
|
rs1413959671 CA349993951 |
273 | W>* | No |
ClinGen gnomAD |
|
|
rs779920979 CA62948565 |
273 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA62948564 rs925974180 |
274 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1189414584 CA349993937 |
275 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1392291230 CA349993932 |
276 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1167225677 CA349993931 |
276 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1423514253 CA349993926 |
277 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA349993921 rs1169218511 |
278 | L>F | No |
ClinGen gnomAD |
|
|
CA349993900 rs1574295242 |
281 | V>G | No |
ClinGen Ensembl |
|
|
rs775007272 CA2028674 |
285 | A>G | No |
ClinGen ExAC |
|
|
CA2028673 rs554995648 |
286 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2028672 rs747556650 |
288 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349993860 rs1450692859 |
288 | A>V | No |
ClinGen gnomAD |
|
|
rs772547189 CA2028670 |
289 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1215045419 CA349993859 |
289 | V>M | No |
ClinGen gnomAD |
|
|
rs1257339913 CA349993846 |
291 | Q>* | No |
ClinGen gnomAD |
|
|
rs1212793195 CA349993845 |
291 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748517117 CA2028669 |
294 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779316456 CA2028668 |
295 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1328226654 CA349993791 |
299 | L>F | No |
ClinGen gnomAD |
|
|
rs745692404 CA62948562 |
301 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755228946 CA2028667 |
303 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1327425271 CA349993750 |
305 | S>N | No |
ClinGen gnomAD |
|
|
rs1397578117 CA349993736 |
307 | H>R | No |
ClinGen gnomAD |
|
|
CA349993732 rs1574295051 |
308 | Y>N | No |
ClinGen Ensembl |
|
|
rs1453371075 CA349993719 |
309 | P>L | No |
ClinGen gnomAD |
|
|
CA349993711 rs1195183723 |
311 | R>T | No |
ClinGen gnomAD |
|
|
rs1209925654 CA349993697 |
313 | C>R | No |
ClinGen TOPMed |
|
|
CA2028665 rs780210694 |
315 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA349993669 rs1439520891 |
316 | M>I | No |
ClinGen gnomAD |
|
|
rs1273383189 CA349993658 |
318 | W>R | No |
ClinGen gnomAD |
|
|
rs993137964 CA62948166 |
319 | K>I | No |
ClinGen TOPMed |
|
|
rs896161226 CA62948164 |
320 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA62948163 rs533247871 |
321 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2028660 rs371470092 |
322 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349993612 rs1465249631 |
322 | Q>R | No |
ClinGen TOPMed |
|
|
rs937780209 CA349993603 |
323 | W>* | No |
ClinGen TOPMed |
|
|
rs937780209 CA62948162 |
323 | W>C | No |
ClinGen TOPMed |
|
|
rs1374198722 CA349993600 |
324 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574289409 CA349993566 |
328 | E>D | No |
ClinGen Ensembl |
|
|
CA349993546 rs1300922170 |
332 | K>* | No |
ClinGen TOPMed |
|
|
rs751336522 CA2028659 |
332 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1413488224 CA349993536 |
333 | Y>C | No |
ClinGen gnomAD |
|
|
rs562591127 CA62948160 |
335 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA349993497 rs1344212214 |
339 | Y>H | No |
ClinGen gnomAD |
|
|
CA62948157 rs920892910 |
342 | Q>* | No |
ClinGen gnomAD |
|
|
CA349993475 rs920892910 |
342 | Q>K | No |
ClinGen gnomAD |
|
|
rs763832157 CA2028658 |
344 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA349993223 rs1408158882 |
346 | E>G | No |
ClinGen gnomAD |
|
|
CA2028657 rs200942153 |
347 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1259307577 CA349993210 |
348 | N>S | No |
ClinGen gnomAD |
|
|
rs529384032 CA2028656 |
355 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2028655 rs764817284 |
355 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA62948154 rs868325644 |
356 | R>Q | No |
ClinGen gnomAD |
|
|
CA2028654 rs561864691 |
356 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349993158 rs1231952525 |
357 | A>P | No |
ClinGen gnomAD |
|
|
CA349993151 rs1294490108 |
358 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA349993145 rs1399744963 |
358 | C>W | No |
ClinGen gnomAD |
|
|
CA2028653 rs367843617 |
359 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA62948152 rs367843617 |
359 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2028652 rs772426003 |
359 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1286746977 CA349993139 |
360 | K>T | No |
ClinGen gnomAD |
|
|
CA2028650 rs373593274 |
361 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345199769 CA349993127 |
362 | D>N | No |
ClinGen gnomAD |
|
|
rs977220987 CA62948151 |
366 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1574289115 CA349993083 |
368 | V>G | No |
ClinGen Ensembl |
|
|
rs1427699176 CA349993082 |
369 | V>I | No |
ClinGen gnomAD |
|
|
rs1417144858 CA349993072 |
370 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1417144858 CA349993073 |
370 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs964815479 CA349993063 |
371 | R>S | No |
ClinGen TOPMed |
|
|
CA349993053 rs1188435738 |
372 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1486333341 CA349993040 |
373 | H>P | No |
ClinGen gnomAD |
|
|
CA349993038 rs1486333341 |
373 | H>R | No |
ClinGen gnomAD |
|
|
CA349993030 rs1211868174 |
374 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1275320922 CA349993000 |
376 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 378 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349992890 rs1574287714 |
379 | A>V | No |
ClinGen Ensembl |
|
|
rs914253369 CA62948052 |
380 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 380 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349992741 rs1205637673 |
382 | V>F | No |
ClinGen gnomAD |
|
|
CA349992678 rs1347662419 |
386 | S>I | No |
ClinGen gnomAD |
|
|
rs1391121159 CA349992664 |
387 | H>R | No |
ClinGen gnomAD |
|
|
rs1054127366 CA62948050 |
388 | L>F | No |
ClinGen Ensembl |
|
|
CA349992611 rs1302234509 |
391 | E>G | No |
ClinGen gnomAD |
|
|
CA2028635 rs763885127 |
392 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764794335 CA2028632 |
404 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2028633 rs752455011 |
404 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349992435 rs752455011 |
404 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459485383 CA349992391 |
406 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759125196 CA2028631 |
406 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA349992328 rs1393184607 |
408 | E>K | No |
ClinGen gnomAD |
|
|
CA2028630 rs532056658 |
409 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA349992260 rs1170759491 |
412 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765937658 CA2028629 |
414 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774928829 CA2028627 |
416 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with A6NFY4
No regional properties for A6NFY4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A6NFY4 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
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 |
|---|---|---|---|---|
| Q5ZJY9 | NEMP2 | Nuclear envelope integral membrane protein 2 | Gallus gallus (Chicken) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGPRQGRWWL | LLWLPPLATL | PVRGEAAAAA | LSVRRCKALK | EKDLIRTSES | DCYCYNQNSQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VEWKYIWSTM | QVKITSPGLF | RIVYIAERHN | CQYPENILSF | IKCVIHNFWI | PKESNEITII |
| 130 | 140 | 150 | 160 | 170 | 180 |
| INPYRETVCF | SVEPVKKIFN | YMIHVNRNIM | DFKLFLVFVA | GVFLFFYART | LSQSPTFYYS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGTVLGVLMT | LVFVLLLVKR | FIPKYSTFWA | LMVGCWFASV | YIVCQLMEDL | KWLWYENRIY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLGYVLIVGF | FSFVVCYKHG | PLADDRSRSL | LMWMLRLLSL | VLVYAGVAVP | QFAYAAIILL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MSSWSLHYPL | RACSYMRWKM | EQWFTSKELV | VKYLTEDEYR | EQADAETNSA | LEELRRACRK |
| 370 | 380 | 390 | 400 | 410 | |
| PDFPSWLVVS | RLHTPSKFAD | FVLGGSHLSP | EEISLHEEQY | GLGGAFLEEQ | LFNPSTA |