P35241
Gene name |
RDX |
Protein name |
Radixin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5962 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
5-295 (FERM domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Pearson MA et al. (2000) "Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain", Cell, 101, 259-70
- Austermann J et al. (2008) "Characterization of the Ca2+ -regulated ezrin-S100P interaction and its role in tumor cell migration", The Journal of biological chemistry, 283, 29331-40
- Liu J et al. (2014) "Conserved sequence repeats of IQGAP1 mediate binding to Ezrin", Journal of proteome research, 13, 1156-66
Autoinhibited structure

Activated structure

1 structures for P35241
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-P35241-F1 | Predicted | AlphaFoldDB |
409 variants for P35241
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs770252893 RCV001102779 CA6270354 |
101 | L>F | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV000014074 rs121918380 CA256734 |
155 | Q>* | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000778302 CA382868084 rs139960434 |
191 | Y>* | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000339086 RCV001289164 CA6270267 rs146019940 |
201 | Y>C | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000281752 CA10633388 rs150863373 |
279 | R>L | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
CA229017469 RCV002223935 rs893826250 RCV000778301 |
304 | Q>* | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
RCV002522178 CA6270150 rs377016439 RCV000374116 |
350 | R>H | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs1463925107 RCV001262022 |
370 | R>* | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinVar dbSNP |
rs146713867 RCV003165546 CA6270079 RCV001857751 RCV000218122 |
385 | E>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs886047646 CA10637104 RCV000389591 |
399 | A>T | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
CA183860 RCV000155954 rs572843421 RCV000922492 RCV002516139 |
428 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs727504709 RCV000155993 |
438 | K>missing | Rare genetic deafness [ClinVar] | Yes |
ClinVar dbSNP |
RCV000014073 rs1372141763 |
469 | A>missing | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinVar dbSNP |
CA6269982 RCV000332763 rs138560358 RCV002520671 |
471 | P>A | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000037714 CA134769 RCV000275257 RCV000881421 rs74983220 |
496 | A>V | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1864714177 RCV001107353 |
499 | E>Q | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinVar dbSNP |
rs140180881 RCV002520670 CA6269961 RCV000367552 |
502 | N>D | Inborn genetic diseases Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs199573785 CA6269954 RCV001107352 |
516 | T>I | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
RCV001104608 rs1864709166 |
526 | K>R | Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] | Yes |
ClinVar dbSNP |
VAR_036859 RCV000014072 rs121918379 CA256733 |
578 | D>N | Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 24 DFNB24 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
rs763518071 CA6270454 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1180055130 CA382869801 |
3 | K>E | No |
ClinGen gnomAD |
|
CA229019664 rs940919907 |
5 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA6270424 rs749170461 |
5 | I>N | No |
ClinGen ExAC gnomAD |
|
CA229019663 rs533324168 |
6 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs193206883 CA382869478 |
6 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs777411187 CA6270423 |
6 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270420 rs142539598 |
7 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs142539598 CA6270421 CA382869476 |
7 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA382869458 rs1172573717 |
10 | T>A | No |
ClinGen gnomAD |
|
CA6270419 rs758795848 |
11 | T>A | No |
ClinGen ExAC gnomAD |
|
CA229019661 rs975220280 |
12 | M>V | No |
ClinGen Ensembl |
|
rs1470002111 CA382869434 |
13 | D>E | No |
ClinGen gnomAD |
|
CA229019660 rs200152052 |
15 | E>A | No |
ClinGen 1000Genomes |
|
CA382869396 rs1190229511 |
18 | F>L | No |
ClinGen gnomAD |
|
rs1484699609 CA382869384 |
19 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs1484699609 CA382869383 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1412807538 CA382869375 |
20 | I>T | No |
ClinGen TOPMed |
|
CA382869362 rs1333330754 |
21 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1376600655 CA382869357 |
22 | P>R | No |
ClinGen TOPMed |
|
rs967856297 CA229019659 |
23 | N>S | No |
ClinGen gnomAD |
|
rs1217488325 CA382869341 |
24 | T>K | No |
ClinGen TOPMed gnomAD |
|
CA229019658 rs745448124 |
26 | G>D | No |
ClinGen Ensembl |
|
CA229019657 rs570849275 |
27 | K>R | No |
ClinGen Ensembl |
|
CA382869281 rs1221853098 |
31 | D>G | No |
ClinGen gnomAD |
|
CA6270395 rs546913232 |
33 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1350793312 CA382869192 |
35 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA6270393 rs764655058 |
38 | G>V | No |
ClinGen ExAC gnomAD |
|
CA6270392 rs756266812 |
40 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771175890 CA6270390 |
40 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771175890 CA6270391 RCV000608130 |
40 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771175890 CA382869159 |
40 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382869149 rs774408089 |
42 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270388 rs774408089 |
42 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1412883921 CA382869137 |
43 | W>C | No |
ClinGen TOPMed |
|
CA382869140 rs1371794483 |
43 | W>L | No |
ClinGen TOPMed |
|
rs766246489 CA6270387 |
45 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382869106 rs1467025026 |
48 | Q>R | No |
ClinGen gnomAD |
|
CA6270386 rs201338088 |
49 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1199209715 CA382869094 |
50 | V>I | No |
ClinGen gnomAD |
|
rs1246719462 CA382869084 |
51 | D>V | No |
ClinGen TOPMed |
|
rs191491207 CA6270385 |
52 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
CA382869064 rs1268700666 |
54 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs769654968 CA6270384 |
54 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1026218136 CA229018654 |
56 | S>C | No |
ClinGen Ensembl |
|
CA382869052 rs1292861284 |
56 | S>P | No |
ClinGen gnomAD |
|
CA229018653 rs759999873 |
57 | T>A | No |
ClinGen Ensembl |
|
CA382869037 rs1184962249 |
58 | W>* | No |
ClinGen Ensembl |
|
rs12575547 CA229018652 |
61 | L>V | No |
ClinGen Ensembl |
|
CA229018651 rs997405742 |
62 | N>H | No |
ClinGen Ensembl |
|
CA382869005 rs1276316036 |
63 | K>R | No |
ClinGen gnomAD |
|
CA382868981 rs1171957975 |
65 | V>I | No |
ClinGen gnomAD |
|
CA382868979 rs1171957975 |
65 | V>L | No |
ClinGen gnomAD |
|
CA6270366 rs766473708 |
66 | T>S | No |
ClinGen ExAC gnomAD |
|
rs903287405 CA229018595 |
67 | Q>L | No |
ClinGen Ensembl |
|
CA6270365 rs762814919 |
68 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA6270364 rs750130636 |
69 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA382868949 rs1420722740 |
70 | V>I | No |
ClinGen gnomAD |
|
CA229018594 rs928846227 |
71 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA229018593 rs1046298143 |
75 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA6270362 rs570197235 |
76 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1024390508 CA229018592 |
76 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs948868930 CA229018591 |
78 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1346670512 CA382868884 |
79 | K>R | No |
ClinGen gnomAD |
|
CA229018590 rs915988891 |
80 | F>L | No |
ClinGen TOPMed |
|
CA6270359 rs760060345 |
85 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV000219753 CA6270358 rs376418131 |
86 | P>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1359079462 CA382868832 |
86 | P>L | No |
ClinGen TOPMed |
|
rs376418131 CA382868836 |
86 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs550717233 CA6270357 |
89 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs528974802 CA6270356 |
91 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6270355 rs778347694 |
94 | I>V | No |
ClinGen ExAC gnomAD |
|
rs748714954 CA6270353 |
101 | L>R | No |
ClinGen ExAC gnomAD |
|
CA6270351 rs755117227 |
102 | F>L | No |
ClinGen ExAC gnomAD |
|
CA382868706 rs758609386 |
105 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758609386 CA6270348 |
105 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270349 rs758609386 |
105 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382868673 rs1419991939 |
109 | A>V | No |
ClinGen gnomAD |
|
CA6270347 rs765061992 |
110 | I>F | No |
ClinGen ExAC gnomAD |
|
CA6270346 rs765061992 |
110 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6270345 rs753800892 |
113 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA229018588 rs561699385 |
114 | E>K | No |
ClinGen 1000Genomes |
|
CA229018587 rs919237920 |
115 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs763870351 CA6270343 |
116 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1229959067 CA382868622 |
117 | C>Y | No |
ClinGen TOPMed |
|
rs1210684516 CA382868596 |
121 | T>A | No |
ClinGen TOPMed |
|
CA382868591 rs1257568242 |
122 | A>T | No |
ClinGen TOPMed |
|
rs200090161 CA6270340 |
126 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382868562 rs1188215593 |
126 | A>V | No |
ClinGen TOPMed |
|
rs1246038476 CA382868558 |
127 | S>C | No |
ClinGen gnomAD |
|
CA6270339 rs774125184 |
128 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770307768 CA6270338 |
131 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs376337012 CA382868516 |
133 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
CA6270335 rs768988858 |
134 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA6270336 rs777285617 |
134 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1424460559 CA382868506 |
135 | G>E | No |
ClinGen TOPMed |
|
CA229018585 rs201598955 |
136 | D>G | No |
ClinGen gnomAD |
|
CA382868503 rs1384571095 |
136 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1022001914 CA229018584 |
137 | Y>C | No |
ClinGen TOPMed |
|
rs190296143 CA6270334 |
138 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1396587120 CA382868454 |
142 | H>R | No |
ClinGen gnomAD |
|
CA6270333 rs780068896 |
143 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382868439 rs1319544788 |
144 | P>L | No |
ClinGen TOPMed |
|
CA6270332 rs758479232 |
145 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382868435 rs758479232 |
145 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746106701 CA6270331 |
146 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA382868416 rs1194831380 |
148 | A>V | No |
ClinGen gnomAD |
|
CA229018583 rs892144169 |
149 | N>T | No |
ClinGen TOPMed |
|
rs1426337057 CA382868405 |
150 | D>A | No |
ClinGen gnomAD |
|
rs1426337057 CA382868404 |
150 | D>G | No |
ClinGen gnomAD |
|
CA229018582 rs1031071840 |
151 | R>K | No |
ClinGen TOPMed |
|
CA382868395 rs779065310 |
151 | R>S | No |
ClinGen ExAC gnomAD |
|
CA382868389 rs1210797282 |
152 | L>R | No |
ClinGen gnomAD |
|
CA382868368 rs1213643220 |
156 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA6270328 rs753570699 |
156 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1470753928 CA601962164 |
158 | L>FK* | No |
ClinGen gnomAD |
|
rs930558988 CA229017886 |
159 | E>D | No |
ClinGen TOPMed |
|
CA6270295 rs762764289 |
161 | H>N | No |
ClinGen ExAC |
|
CA6270294 rs772892808 |
162 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1180308372 CA382868297 |
164 | T>I | No |
ClinGen gnomAD |
|
CA6270293 rs761056787 |
165 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761056787 CA6270292 |
165 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270291 rs775863166 |
166 | E>D | No |
ClinGen ExAC gnomAD |
|
rs772506958 CA6270290 |
167 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA229017885 rs532467334 |
167 | Q>R | No |
ClinGen TOPMed |
|
rs760022115 CA6270289 |
170 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1279952599 CA382868250 |
171 | R>K | No |
ClinGen gnomAD |
|
CA6270288 rs774479712 |
172 | I>K | No |
ClinGen ExAC gnomAD |
|
rs1278022845 CA382868235 |
173 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA382868214 rs1236827750 |
176 | H>N | No |
ClinGen gnomAD |
|
CA6270287 rs770966763 |
176 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382868207 rs1312933297 |
177 | E>K | No |
ClinGen gnomAD |
|
rs1373231261 CA382868190 |
179 | H>D | No |
ClinGen gnomAD |
|
CA382868165 rs1311898195 |
182 | M>T | No |
ClinGen gnomAD |
|
rs760956967 CA382868128 |
185 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382868116 rs1167744965 |
187 | S>A | No |
ClinGen gnomAD |
|
RCV000595667 CA6270273 CA6270272 rs141888853 |
188 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA6270274 rs753162328 |
188 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs977975801 CA229017871 |
190 | E>G | No |
ClinGen Ensembl |
|
rs1395517131 CA382868062 |
195 | A>T | No |
ClinGen TOPMed |
|
CA382868052 rs1190745874 |
196 | Q>R | No |
ClinGen gnomAD |
|
CA382868043 rs1430107242 |
197 | D>V | No |
ClinGen TOPMed |
|
CA6270270 rs771021876 |
198 | L>V | No |
ClinGen ExAC gnomAD |
|
rs763049581 CA6270269 |
200 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270268 rs200979844 |
201 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA229017868 rs999025809 |
203 | V>I | No |
ClinGen TOPMed |
|
CA382868000 rs1270058032 |
204 | N>S | No |
ClinGen TOPMed |
|
CA6270266 rs748307983 |
208 | I>V | No |
ClinGen ExAC gnomAD |
|
CA229017867 rs1033344762 |
209 | K>R | No |
ClinGen TOPMed |
|
CA6270264 rs768543778 |
211 | K>R | No |
ClinGen ExAC TOPMed |
|
CA6270263 rs746996085 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
CA6270261 rs757983014 |
217 | W>G | No |
ClinGen ExAC gnomAD |
|
CA382867898 rs1591158664 |
218 | L>P | No |
ClinGen Ensembl |
|
rs1171207515 CA382867874 |
222 | A>S | No |
ClinGen gnomAD |
|
rs1256221880 CA382867860 |
224 | G>D | No |
ClinGen TOPMed |
|
CA382867858 rs1256221880 |
224 | G>V | No |
ClinGen TOPMed |
|
CA382867855 rs1417549341 |
225 | L>P | No |
ClinGen gnomAD |
|
CA6270256 rs767917915 |
226 | N>S | No |
ClinGen ExAC gnomAD |
|
rs759844390 CA6270255 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
CA382867820 rs1195313309 |
230 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA6270254 rs752091940 |
232 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6270230 rs759013014 |
235 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA229017605 rs1015257930 |
238 | I>T | No |
ClinGen TOPMed |
|
rs750867106 CA6270229 |
239 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1420781644 CA382867724 |
242 | W>* | No |
ClinGen gnomAD |
|
rs761754434 CA6270227 |
242 | W>G | No |
ClinGen ExAC gnomAD |
|
CA6270226 rs776993573 |
243 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270225 rs764350321 |
248 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1475251489 CA382867668 |
250 | F>L | No |
ClinGen gnomAD |
|
rs1259104257 CA382867657 |
251 | N>S | No |
ClinGen gnomAD |
|
rs760963268 CA6270224 |
252 | D>G | No |
ClinGen ExAC gnomAD |
|
rs760963268 CA382867649 |
252 | D>V | No |
ClinGen ExAC gnomAD |
|
CA6270223 rs775489692 |
253 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1315647125 CA382867626 |
255 | F>C | No |
ClinGen gnomAD |
|
CA6270220 rs745866179 |
256 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771731527 CA6270221 |
256 | V>L | No |
ClinGen ExAC gnomAD |
|
CA6270218 rs770505660 |
259 | P>S | No |
ClinGen ExAC gnomAD |
|
CA229017604 rs997759369 |
260 | I>T | No |
ClinGen TOPMed |
|
RCV000155275 RCV000766845 rs138116275 CA182496 |
260 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1386279803 CA382867591 |
261 | D>A | No |
ClinGen gnomAD |
|
rs1455213377 CA382867594 |
261 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
RCV000214012 rs201031650 CA6270214 |
264 | A>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6270215 rs201031650 |
264 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs567486858 CA229017602 |
265 | P>R | No |
ClinGen Ensembl |
|
rs762865437 CA6270200 |
266 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774350060 CA6270201 |
266 | D>N | No |
ClinGen ExAC gnomAD |
|
rs762865437 CA6270199 |
266 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382867517 rs1320616517 |
270 | Y>H | No |
ClinGen TOPMed |
|
CA382867508 rs1222145324 |
271 | A>S | No |
ClinGen TOPMed |
|
CA382867499 rs1415646714 |
272 | P>L | No |
ClinGen gnomAD |
|
CA382867504 rs1427063445 |
272 | P>T | No |
ClinGen gnomAD |
|
CA6270198 rs370869036 |
273 | R>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs142346566 CA6270197 |
273 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA229017474 rs962472148 |
275 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA382867483 rs962472148 |
275 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1238810329 CA382867474 |
276 | I>S | No |
ClinGen TOPMed |
|
CA6270196 rs367959168 |
277 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382867460 rs1185421880 |
278 | K>M | No |
ClinGen TOPMed |
|
CA6270194 rs150863373 |
279 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6270195 rs17854426 |
279 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA382867454 rs1174111572 |
280 | I>V | No |
ClinGen TOPMed |
|
rs779319068 CA6270192 |
281 | L>S | No |
ClinGen ExAC gnomAD |
|
CA382867438 rs1180466589 |
282 | A>G | No |
ClinGen gnomAD |
|
CA229017472 rs370138199 |
283 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
rs899794374 CA229017471 |
284 | C>R | No |
ClinGen Ensembl |
|
rs754363355 CA6270190 |
288 | H>R | No |
ClinGen ExAC gnomAD |
|
CA382867386 rs1483135162 |
289 | E>D | No |
ClinGen gnomAD |
|
rs778047006 CA6270189 |
291 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs767569356 CA6270186 |
292 | M>L | No |
ClinGen ExAC gnomAD |
|
rs767569356 CA6270187 |
292 | M>V | No |
ClinGen ExAC gnomAD |
|
CA6270185 rs759389484 |
293 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6270184 rs147732690 |
297 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1174649339 CA382867326 |
299 | T>A | No |
ClinGen gnomAD |
|
CA6270183 rs766193519 |
299 | T>N | No |
ClinGen ExAC gnomAD |
|
CA6270182 rs762920481 |
300 | I>T | No |
ClinGen ExAC |
|
rs1212547271 CA382867321 |
300 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs769318918 CA6270180 |
303 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs951352621 CA229017468 |
305 | M>I | No |
ClinGen TOPMed |
|
rs761276998 CA6270179 |
305 | M>K | No |
ClinGen ExAC gnomAD |
|
CA382867268 rs1194199542 |
307 | A>V | No |
ClinGen gnomAD |
|
CA382867245 rs1482842876 |
311 | E>Q | No |
ClinGen gnomAD |
|
CA6270177 rs200709947 |
314 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA382867206 rs1283154489 |
316 | K>E | No |
ClinGen TOPMed |
|
CA229016779 rs983104500 |
322 | Q>K | No |
ClinGen Ensembl |
|
rs17854427 CA229016778 VAR_036857 |
328 | K>E | No |
ClinGen UniProt Ensembl dbSNP |
|
CA382867090 rs1565313533 |
329 | K>N | No |
ClinGen Ensembl |
|
rs576461351 CA6270164 |
329 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs533107164 CA6270162 RCV001562098 RCV000218314 |
332 | I>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs761720838 CA6270161 |
333 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1237181088 CA382867057 |
334 | E>V | No |
ClinGen gnomAD |
|
rs776049009 CA6270159 |
336 | E>G | No |
ClinGen ExAC gnomAD |
|
rs763659660 CA6270158 |
338 | E>K | No |
ClinGen ExAC gnomAD |
|
CA382867014 rs1269884778 |
340 | I>K | No |
ClinGen TOPMed gnomAD |
|
rs1472479600 CA382867011 |
340 | I>M | No |
ClinGen TOPMed |
|
rs1030064754 CA229016776 |
342 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs760305656 CA6270157 |
342 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1273246492 CA382866996 |
343 | E>K | No |
ClinGen gnomAD |
|
rs1565313478 CA382866990 |
344 | K>Q | No |
ClinGen Ensembl |
|
rs775152694 CA6270156 |
345 | E>K | No |
ClinGen ExAC gnomAD |
|
RCV001358542 rs141462728 RCV000600590 CA6270155 |
346 | E>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770471737 CA6270152 |
349 | E>G | No |
ClinGen ExAC gnomAD |
|
CA6270153 rs773878373 |
349 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs748656504 CA6270151 |
350 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270149 rs747206359 |
354 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1415001942 CA382866916 |
355 | E>Q | No |
ClinGen gnomAD |
|
rs762915826 CA382866890 |
358 | T>I | No |
ClinGen TOPMed |
|
CA229016775 rs762915826 |
358 | T>K | No |
ClinGen TOPMed |
|
CA382866885 rs1413266757 |
359 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1249628120 CA382866854 |
363 | K>R | No |
ClinGen gnomAD |
|
CA6270091 rs762103695 |
367 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA6270090 rs201399984 |
369 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
RCV001858412 CA6270089 RCV000826031 rs201399984 |
369 | T>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA382574020 rs1463925107 |
370 | R>G | No |
ClinGen gnomAD |
|
rs1379848461 CA382574017 |
370 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA228498841 rs199534450 |
371 | K>E | No |
ClinGen 1000Genomes |
|
CA6270087 rs761232127 |
376 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382573964 rs1214332223 |
376 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs772146113 CA382573929 |
379 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
CA6270084 rs759574395 |
379 | R>L | No |
ClinGen ExAC gnomAD |
|
CA382573927 rs759574395 |
379 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA382573909 rs1308348441 |
381 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs774459596 CA382573908 |
381 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774459596 CA6270083 |
381 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376810025 CA6270081 |
382 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
rs376810025 CA6270080 |
382 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
CA6270078 rs748108220 |
387 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6270077 rs754563690 |
388 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382573844 rs1477005471 |
388 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1291327971 CA382573833 |
389 | L>H | No |
ClinGen gnomAD |
|
rs746466609 CA6270075 |
390 | E>G | No |
ClinGen ExAC gnomAD |
|
rs779405847 CA6270074 |
391 | K>E | No |
ClinGen ExAC gnomAD |
|
CA6270073 rs727505297 CA382573803 |
392 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750035123 CA6270072 |
393 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs764536750 CA6270071 |
393 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
CA6270070 rs756407279 |
394 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270069 rs780679073 |
394 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1209373602 CA382573733 |
400 | K>M | No |
ClinGen gnomAD |
|
rs767965188 CA228498689 |
401 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel rs1591137281 CA382573727 |
401 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
CA6270068 rs767965188 |
401 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270067 rs373960715 |
402 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369202684 CA6270066 |
404 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6270065 rs766364205 |
408 | A>V | No |
ClinGen ExAC gnomAD |
|
rs769714594 CA6270062 |
409 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA382573632 rs1298544556 |
410 | Q>R | No |
ClinGen gnomAD |
|
CA6270060 rs776729174 |
411 | M>I | No |
ClinGen ExAC gnomAD |
|
rs747909378 CA6270061 |
411 | M>R | No |
ClinGen ExAC gnomAD |
|
rs1428169066 CA382573615 |
412 | K>Q | No |
ClinGen gnomAD |
|
CA382573609 rs1370371596 |
412 | K>R | No |
ClinGen gnomAD |
|
rs768760004 CA382573601 |
413 | N>I | No |
ClinGen ExAC gnomAD |
|
rs768760004 CA6270059 |
413 | N>S | No |
ClinGen ExAC gnomAD |
|
CA228498643 rs930575497 |
414 | Q>K | No |
ClinGen TOPMed |
|
CA6270058 rs746885384 |
414 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs1350109120 CA382573586 |
415 | E>K | No |
ClinGen TOPMed |
|
CA6270057 rs779676296 |
417 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200525150 CA6270037 |
418 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA382573273 rs1187916181 |
419 | A>G | No |
ClinGen gnomAD |
|
rs1277665435 CA382573262 |
420 | E>V | No |
ClinGen TOPMed |
|
CA382573240 rs1253939697 |
422 | A>V | No |
ClinGen gnomAD |
|
CA382573186 rs1226107324 |
427 | K>N | No |
ClinGen gnomAD |
|
rs770612865 CA6270033 |
427 | K>R | No |
ClinGen ExAC gnomAD |
|
rs375938363 CA228497759 |
428 | I>T | No |
ClinGen ESP |
|
CA228497740 rs866703297 |
429 | A>S | No |
ClinGen gnomAD |
|
CA382573171 rs866703297 |
429 | A>T | No |
ClinGen gnomAD |
|
rs755277132 CA6270031 |
430 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6270030 rs752109745 |
434 | A>P | No |
ClinGen ExAC gnomAD |
|
rs752109745 CA382573124 |
434 | A>T | No |
ClinGen ExAC gnomAD |
|
CA6270028 rs758524429 |
435 | K>E | No |
ClinGen ExAC |
|
rs750514673 CA382573106 |
435 | K>N | No |
ClinGen ExAC gnomAD |
|
CA228497698 rs1000629842 |
437 | K>T | No |
ClinGen TOPMed |
|
rs1565306762 CA382573046 |
440 | E>D | No |
ClinGen Ensembl |
|
CA382573035 rs1591135650 |
441 | E>G | No |
ClinGen Ensembl |
|
CA382573019 rs1165246963 |
443 | T>A | No |
ClinGen gnomAD |
|
rs754058941 CA6270023 |
445 | W>C | No |
ClinGen ExAC gnomAD |
|
CA177716 rs727503393 RCV000151738 |
447 | H>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs763990381 CA6270022 |
447 | H>R | No |
ClinGen ExAC gnomAD |
|
CA382572961 rs1182813603 |
448 | K>E | No |
ClinGen gnomAD |
|
rs1352385377 CA382572662 |
449 | A>G | No |
ClinGen gnomAD |
|
CA382572630 rs1565305499 |
451 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA382572628 rs1422141289 |
452 | A>T | No |
ClinGen TOPMed |
|
rs759449465 CA6269995 |
454 | E>* | No |
ClinGen ExAC |
|
RCV000156494 RCV001850160 rs727505062 CA184951 |
455 | D>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA382572583 rs201761918 |
455 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6269991 rs762407915 |
466 | V>E | No |
ClinGen ExAC gnomAD |
|
rs769377191 CA6269989 |
467 | M>I | No |
ClinGen ExAC gnomAD |
|
CA382572433 rs1231807337 |
469 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA6269986 rs772465918 |
470 | P>R | No |
ClinGen ExAC |
|
rs754733997 CA6269978 |
471 | P>H | No |
ClinGen ExAC gnomAD |
|
CA6269980 rs754733997 |
471 | P>L | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6269979 rs754733997 |
471 | P>R | No |
ClinGen ExAC gnomAD |
|
RCV000401456 CA6269983 rs138560358 |
471 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138560358 CA6269981 |
471 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766253404 CA6269974 |
474 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772746054 CA6269970 |
481 | P>A | No |
ClinGen ExAC gnomAD |
|
CA6269968 rs761425561 |
485 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6269966 rs772357302 |
487 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA228495695 rs201741843 |
488 | E>G | No |
ClinGen 1000Genomes |
|
CA382572207 rs1411872584 |
489 | H>Q | No |
ClinGen gnomAD |
|
CA228495681 rs961196966 |
490 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA134767 RCV000037713 RCV001571007 rs34471100 VAR_036858 |
490 | D>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA382572193 rs961196966 |
490 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs1191086578 CA382572166 |
492 | N>H | No |
ClinGen TOPMed |
|
rs149915672 CA6269962 |
499 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA228495648 rs889509891 |
501 | S>P | No |
ClinGen TOPMed |
|
rs140180881 CA6269960 |
502 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781434721 CA6269959 |
504 | G>R | No |
ClinGen ExAC gnomAD |
|
rs146734750 CA6269958 |
506 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA382571958 rs1239679893 |
508 | H>R | No |
ClinGen gnomAD |
|
CA6269957 rs751403876 |
508 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6269955 rs758394158 |
511 | E>K | No |
ClinGen ExAC gnomAD |
|
rs894093123 CA228495628 |
513 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA228495623 rs1019544317 |
514 | R>C | No |
ClinGen TOPMed |
|
CA228495619 rs758006766 |
514 | R>H | No |
ClinGen gnomAD |
|
rs1327254539 CA382571889 |
515 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA382571873 rs1379664354 |
517 | E>K | No |
ClinGen gnomAD |
|
CA6269952 rs761349279 |
519 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA6269951 rs753458211 |
522 | E>K | No |
ClinGen ExAC gnomAD |
|
rs763861122 CA6269950 |
523 | R>C | No |
ClinGen ExAC gnomAD |
|
rs374217847 CA6269949 |
523 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374217847 CA6269948 |
523 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6269947 rs771409632 |
527 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA228494808 rs768846725 |
536 | A>T | No |
ClinGen gnomAD |
|
rs143401385 CA382571118 |
540 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6269931 rs143401385 |
540 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760462619 CA382571073 |
542 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760462619 CA6269930 |
542 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763338823 CA6269927 |
546 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA228494783 rs200726776 |
550 | L>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA228494786 rs200726776 |
550 | L>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1489548023 CA382570838 |
555 | V>I | No |
ClinGen gnomAD |
|
rs958586956 CA228494775 |
556 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA6269925 rs770379250 |
557 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6269924 rs528380395 |
559 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776835361 CA6269923 |
559 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1324635029 CA382570763 |
560 | D>G | No |
ClinGen gnomAD |
|
rs139896690 CA6269922 |
563 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA382570704 rs1179716581 |
564 | T>A | No |
ClinGen TOPMed |
|
rs762658340 CA228494742 |
566 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA382570649 rs1369269011 |
567 | Q>R | No |
ClinGen gnomAD |
|
rs868305531 CA228494733 |
569 | R>* | No |
ClinGen Ensembl |
|
rs780179741 CA6269920 |
569 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1371513238 CA382570590 |
572 | N>D | No |
ClinGen gnomAD |
|
rs1170898250 CA382570567 |
573 | T>A | No |
ClinGen gnomAD |
|
CA382570533 rs1232437292 |
575 | Q>E | No |
ClinGen TOPMed |
|
rs745727415 CA6269918 |
577 | I>T | No |
ClinGen ExAC gnomAD |
|
RCV000826030 CA6269919 rs370958814 |
577 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6269916 rs757290634 |
582 | A>V | No |
ClinGen ExAC gnomAD |
|
CA382570407 rs1483519462 |
583 | M>T | No |
ClinGen gnomAD |
|
CA6269915 rs753707089 |
583 | M>V | No |
ClinGen ExAC gnomAD |
1 associated diseases with P35241
[MIM: 611022]: Deafness, autosomal recessive, 24 (DFNB24)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. . Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P35241
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 249 - 500 | IPR000719 |
active_site | Serine/threonine-protein kinase, active site | 364 - 376 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 255 - 278 | IPR017441 |
domain | p21 activated kinase binding domain | 72 - 117 | IPR033923 |
domain | p21-activated kinase 2, catalytic domain | 229 - 524 | IPR035064 |
Functions
17 GO annotations of cellular component
Name | Definition |
---|---|
adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
cell periphery | The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. |
cell tip | The region at the end of the longest axis of a cylindrical or elongated cell. |
cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
stereocilium base | The tapered base of the stereocilium adjacent to where it joins the hair cell body. This region contains a rootlet comprised of bundled actin filaments which spans the joint and stabilizes the stereocilium. |
T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
6 GO annotations of molecular function
Name | Definition |
---|---|
actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
cell adhesion molecule binding | Binding to a cell adhesion molecule. |
protein kinase A binding | Binding to a protein kinase A. |
RNA binding | Binding to an RNA molecule or a portion thereof. |
25 GO annotations of biological process
Name | Definition |
---|---|
apical protein localization | Any process in which a protein is transported to, or maintained in, apical regions of the cell. |
barbed-end actin filament capping | The binding of a protein or protein complex to the barbed (or plus) end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits. |
cellular response to platelet-derived growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet-derived growth factor stimulus. |
cellular response to thyroid hormone stimulus | A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thyroid hormone stimulus. |
establishment of endothelial barrier | The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition. |
establishment of protein localization to plasma membrane | The directed movement of a protein to a specific location in a plasma membrane. |
negative regulation of adherens junction organization | Any process that stops, prevents or reduces the frequency, rate or extent of adherens junction organization. |
negative regulation of cell size | Any process that reduces cell size. |
negative regulation of GTPase activity | Any process that stops or reduces the rate of GTP hydrolysis by a GTPase. |
negative regulation of homotypic cell-cell adhesion | Any process that stops, prevents, or reduces the frequency, rate, or extent of homotypic cell-cell adhesion. |
positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
positive regulation of early endosome to late endosome transport | Any process that activates or increases the frequency, rate or extent of early endosome to late endosome transport. |
positive regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
positive regulation of protein localization to early endosome | Any process that activates or increases the frequency, rate or extent of protein localization to early endosome. |
protein kinase A signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase A, which occurs as a result of a single trigger reaction or compound. |
protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
regulation of actin filament bundle assembly | Any process that modulates the frequency, rate or extent of the assembly of actin filament bundles. |
regulation of cell shape | Any process that modulates the surface configuration of a cell. |
regulation of cell size | Any process that modulates the size of a cell. |
regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
regulation of organelle assembly | Any process that modulates the frequency, rate or extent of organelle assembly. |
regulation of Rap protein signal transduction | Any process that modulates the frequency, rate or extent of Rap protein signal transduction. |
regulation of ruffle assembly | Any process that modulates the frequency, rate or extent of ruffle assembly. |
21 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P31976 | EZR | Ezrin | Bos taurus (Bovine) | PR |
Q2HJ49 | MSN | Moesin | Bos taurus (Bovine) | PR |
Q32LP2 | RDX | Radixin | Bos taurus (Bovine) | SS |
Q9PU45 | RDX | Radixin | Gallus gallus (Chicken) | PR |
Q24564 | Mer | Moesin/ezrin/radixin homolog 2 | Drosophila melanogaster (Fruit fly) | SS |
P46150 | Moe | Moesin/ezrin/radixin homolog 1 | Drosophila melanogaster (Fruit fly) | SS |
Q3KP66 | INAVA | Innate immunity activator protein | Homo sapiens (Human) | PR |
P35240 | NF2 | Merlin | Homo sapiens (Human) | EV |
P26038 | MSN | Moesin | Homo sapiens (Human) | EV |
P15311 | EZR | Ezrin | Homo sapiens (Human) | EV |
A2AD83 | Frmd7 | FERM domain-containing protein 7 | Mus musculus (Mouse) | PR |
P26040 | Ezr | Ezrin | Mus musculus (Mouse) | SS |
P26041 | Msn | Moesin | Mus musculus (Mouse) | SS |
P46662 | Nf2 | Merlin | Mus musculus (Mouse) | SS |
P26043 | Rdx | Radixin | Mus musculus (Mouse) | SS |
P26042 | MSN | Moesin | Sus scrofa (Pig) | PR |
P26044 | RDX | Radixin | Sus scrofa (Pig) | SS |
Q63648 | Nf2 | Merlin | Rattus norvegicus (Rat) | SS |
O35763 | Msn | Moesin | Rattus norvegicus (Rat) | SS |
P31977 | Ezr | Ezrin | Rattus norvegicus (Rat) | SS |
Q6Q413 | nf2b | NF2, moesin-ezrin-radixin-like | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MPKPINVRVT | TMDAELEFAI | QPNTTGKQLF | DQVVKTVGLR | EVWFFGLQYV | DSKGYSTWLK |
70 | 80 | 90 | 100 | 110 | 120 |
LNKKVTQQDV | KKENPLQFKF | RAKFFPEDVS | EELIQEITQR | LFFLQVKEAI | LNDEIYCPPE |
130 | 140 | 150 | 160 | 170 | 180 |
TAVLLASYAV | QAKYGDYNKE | IHKPGYLAND | RLLPQRVLEQ | HKLTKEQWEE | RIQNWHEEHR |
190 | 200 | 210 | 220 | 230 | 240 |
GMLREDSMME | YLKIAQDLEM | YGVNYFEIKN | KKGTELWLGV | DALGLNIYEH | DDKLTPKIGF |
250 | 260 | 270 | 280 | 290 | 300 |
PWSEIRNISF | NDKKFVIKPI | DKKAPDFVFY | APRLRINKRI | LALCMGNHEL | YMRRRKPDTI |
310 | 320 | 330 | 340 | 350 | 360 |
EVQQMKAQAR | EEKHQKQLER | AQLENEKKKR | EIAEKEKERI | EREKEELMER | LKQIEEQTIK |
370 | 380 | 390 | 400 | 410 | 420 |
AQKELEEQTR | KALELDQERK | RAKEEAERLE | KERRAAEEAK | SAIAKQAADQ | MKNQEQLAAE |
430 | 440 | 450 | 460 | 470 | 480 |
LAEFTAKIAL | LEEAKKKKEE | EATEWQHKAF | AAQEDLEKTK | EELKTVMSAP | PPPPPPPVIP |
490 | 500 | 510 | 520 | 530 | 540 |
PTENEHDEHD | ENNAEASAEL | SNEGVMNHRS | EEERVTETQK | NERVKKQLQA | LSSELAQARD |
550 | 560 | 570 | 580 | ||
ETKKTQNDVL | HAENVKAGRD | KYKTLRQIRQ | GNTKQRIDEF | EAM |