P15311
EV
Gene name |
EZR (VIL2) |
Protein name |
Ezrin |
Names |
Cytovillin, Villin-2, p81 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7430 |
EC number |
|
Protein Class |
MERLIN/MOESIN/EZRIN/RADIXIN (PTHR23281) |
Descriptions
Ezrin is a multidomain protein providing regulated membrane-cytoskeleton contacts that play a role in cell differentiation, adhesion, and migration. Within the cytosol of resting cells ezrin resides in an autoinhibited conformation in which the N- and C-terminal ezrin/radixin/moesin (ERM) association domains (ERMADs) interact with one another. The N-terminal ERMAD is also known as the FERM domain. The two domains inhibit each other. Activation of the ezrin membrane-cytoskeleton linker function requires an opening of this interdomain association that can result from phosphatidylinositol 4,5-bisphosphate binding to the N-ERMAD and threonine 567 phosphorylation in the C-ERMAD. Ezrin can also be activated by Ca2+-dependent binding of the EF-hand protein S100P.
Autoinhibitory domains (AIDs)
Target domain |
511-586 (C-terminal ERM) |
Relief mechanism |
Ligand binding, Partner binding |
Assay |
Deletion assay |
Target domain |
5-295 (FERM domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Deletion 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
- 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
481 variants for P15311
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA150989906 rs141238344 |
2 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA150989905 rs141238344 |
2 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4075507 rs762604116 |
3 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201429575 CA4075506 |
4 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1456580495 CA366273104 |
4 | P>S | No |
ClinGen gnomAD |
|
|
rs562797013 CA4075456 |
5 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144581330 CA4075455 |
6 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1036421503 CA151032211 |
7 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 8 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360912460 CA366284163 |
8 | R>G | No |
ClinGen TOPMed |
|
|
CA4075453 rs778148244 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202025629 CA366284103 |
11 | T>N | No |
ClinGen Ensembl |
|
|
rs1261161605 CA366284063 |
12 | M>I | No |
ClinGen gnomAD |
|
|
CA366284094 rs1460850104 |
12 | M>L | No |
ClinGen gnomAD |
|
|
CA366284049 rs1224891583 |
13 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972220046 CA151032170 |
14 | A>T | No |
ClinGen TOPMed |
|
|
rs939433594 CA151032164 |
18 | F>L | No |
ClinGen Ensembl |
|
|
CA4075451 rs752742676 |
20 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151032158 rs35411907 |
21 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075450 rs35411907 |
21 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075449 rs755290232 |
23 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753662607 CA4075448 |
24 | T>K | No |
ClinGen ExAC |
|
|
COSM146089 rs766332140 CA4075447 |
25 | T>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366283879 rs760683115 |
25 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs760683115 CA4075446 |
25 | T>N | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 26 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4075444 rs767365269 |
28 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1404612940 CA366283821 |
30 | F>S | No |
ClinGen gnomAD |
|
|
rs1554273605 CA366283797 RCV000503981 |
32 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1292374338 CA366283254 |
34 | V>E | No |
ClinGen TOPMed |
|
|
rs376344139 CA4075414 |
37 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773488530 CA4075412 |
38 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1275281119 CA366283203 |
39 | L>V | No |
ClinGen TOPMed |
|
|
CA4075410 rs748659395 |
40 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772608428 CA4075411 |
40 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362770303 CA366283171 |
42 | V>M | No |
ClinGen gnomAD |
|
|
rs1194854415 CA366283141 |
44 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780370912 CA366283095 |
48 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075405 rs756335191 |
49 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075404 rs750213949 |
51 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs894935280 CA151030226 |
56 | P>R | No |
ClinGen Ensembl |
|
|
rs1372500947 CA366282981 |
59 | L>Q | No |
ClinGen gnomAD |
|
|
CA366282946 rs1262856769 |
62 | D>E | No |
ClinGen gnomAD |
|
|
CA366282952 rs1430183378 |
62 | D>G | No |
ClinGen gnomAD |
|
|
rs200605144 CA4075402 |
62 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075379 rs758371208 |
65 | V>G | No |
ClinGen ExAC |
|
|
CA4075380 rs777647986 |
65 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA366282197 rs1300677152 |
67 | A>P | No |
ClinGen TOPMed |
|
|
rs1051917439 CA151028586 |
67 | A>V | No |
ClinGen gnomAD |
|
|
rs1380769037 CA366282168 |
69 | E>G | No |
ClinGen TOPMed |
|
|
rs1583569016 CA366282152 |
70 | V>G | No |
ClinGen Ensembl |
|
|
CA366282150 rs1306235032 |
71 | R>G | No |
ClinGen TOPMed |
|
|
CA16040244 rs1351328272 |
72 | K>N | No |
ClinGen TOPMed |
|
|
rs752179847 CA4075378 |
74 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764710402 CA151028559 |
75 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1672946 rs11550707 CA151028552 |
75 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4075377 rs764710402 |
75 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366282083 rs1172615995 |
76 | L>F | No |
ClinGen gnomAD |
|
|
rs753362270 CA4075375 |
77 | Q>K | No |
ClinGen ExAC |
|
|
CA4075374 rs766066321 |
77 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA366282054 rs1235922933 |
78 | F>L | No |
ClinGen TOPMed |
|
|
CA366282048 rs1361683754 |
79 | K>E | No |
ClinGen gnomAD |
|
|
CA366282024 rs1440698419 |
80 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4075373 rs551137035 |
80 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs369743003 CA366282022 |
81 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA151028507 rs997662833 |
81 | R>Q | No |
ClinGen Ensembl |
|
|
CA4075372 rs369743003 COSM207294 |
81 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366282011 rs1263873038 |
82 | A>G | No |
ClinGen gnomAD |
|
|
CA4075370 rs763617769 |
82 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366282001 rs1204605833 |
83 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4075369 rs775710251 |
85 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA366281979 rs1348875822 |
85 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4075368 rs769698532 |
87 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA366281936 rs745976023 |
88 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366281919 rs1314050917 |
90 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 92 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771216905 CA4075365 |
96 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1399607973 CA366281803 |
96 | D>Y | No |
ClinGen gnomAD |
|
|
rs777592899 CA4075363 |
99 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1182096483 CA366281672 |
102 | F>I | No |
ClinGen gnomAD |
|
|
CA4075360 rs778913099 |
107 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs140739629 CA4075359 |
108 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371263455 CA366281499 |
109 | G>* | No |
ClinGen ESP TOPMed |
|
|
rs371263455 COSM1311767 CA151028388 |
109 | G>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
| TCGA novel | 110 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039818896 CA151028382 |
111 | L>V | No |
ClinGen Ensembl |
|
|
CA4075356 rs755867199 |
113 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA151028370 rs776538879 |
115 | I>M | No |
ClinGen Ensembl |
|
|
CA4075355 rs573816250 |
119 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366281238 rs1314097139 |
119 | P>L | No |
ClinGen TOPMed |
|
| rs923993817 | 120 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259199029 CA366281212 |
121 | T>A | No |
ClinGen gnomAD |
|
|
rs1243471719 CA366281203 |
121 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142422912 CA151028309 |
123 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4075351 rs765797550 |
125 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA4075349 rs528409234 RCV000412641 |
129 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4075348 rs368042870 |
133 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747289054 CA4075347 |
137 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929883961 CA151028274 |
138 | N>S | No |
ClinGen Ensembl |
|
|
CA4075346 rs772985917 |
138 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4075345 rs771786406 |
140 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA151028261 rs771786406 |
140 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA151028255 rs148761603 |
143 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA4075343 rs778665188 |
143 | K>R | No |
ClinGen ExAC |
|
|
CA4075342 rs375375425 |
144 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375375425 CA366280950 |
144 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366280945 rs1330410476 |
145 | G>W | No |
ClinGen TOPMed |
|
|
TCGA novel CA366280906 rs1276338825 |
148 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA4075340 rs779676334 |
149 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs755827981 CA4075339 |
151 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs750031790 CA4075338 |
151 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755827981 CA366280879 |
151 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA366280855 rs1290258289 |
153 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs980586073 CA151028202 |
154 | P>S | No |
ClinGen Ensembl |
|
|
CA4075312 rs760694464 |
158 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs750531085 CA4075311 |
162 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA366280191 rs1254909460 |
163 | L>F | No |
ClinGen gnomAD |
|
|
rs767690814 CA366280171 |
164 | T>I | No |
ClinGen ExAC |
|
|
rs767690814 CA4075310 |
164 | T>S | No |
ClinGen ExAC |
|
|
CA366280147 rs1468410958 |
166 | D>G | No |
ClinGen gnomAD |
|
|
rs1199219205 CA366280129 |
167 | Q>R | No |
ClinGen gnomAD |
|
|
rs774015874 CA4075308 |
171 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366279989 rs1312471031 |
175 | W>C | No |
ClinGen gnomAD |
|
|
rs768436026 CA366279963 |
177 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075307 rs768436026 |
177 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437844031 CA366279939 |
179 | H>Y | No |
ClinGen gnomAD |
|
|
VAR_030572 rs3103004 RCV000504030 CA4075304 |
180 | R>C | No |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs539532068 CA151027630 |
180 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs539532068 CA366279919 |
180 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs3103004 CA4075305 |
180 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745342152 CA4075303 |
182 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1381190087 CA366279902 |
182 | M>V | No |
ClinGen gnomAD |
|
| rs1360263899 | 183 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780898593 CA4075302 |
183 | L>F | No |
ClinGen ExAC |
|
|
rs1336754517 CA366279875 |
183 | L>P | No |
ClinGen gnomAD |
|
|
CA4075278 rs749617970 |
185 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1489096868 CA366279741 |
185 | D>H | No |
ClinGen gnomAD |
|
|
CA366279732 rs1221186843 |
186 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4075277 rs780444004 |
186 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4075273 rs757315330 |
188 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781566347 CA4075274 |
188 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4075275 rs373056143 |
188 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366279696 rs1341436950 |
191 | Y>C | No |
ClinGen gnomAD |
|
|
rs1446853422 CA366279692 |
192 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778989329 CA4075266 CA366279585 |
206 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372409594 CA366279580 |
207 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1470255410 CA366279582 |
207 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1562495761 CA366279531 |
214 | T>A | No |
ClinGen Ensembl |
|
|
CA366279520 rs1583567198 |
215 | D>E | No |
ClinGen Ensembl |
|
|
CA4075264 rs766249639 |
217 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366279502 rs1179640631 |
218 | L>F | No |
ClinGen gnomAD |
|
|
rs772634100 CA4075262 |
220 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576938464 CA4075261 |
222 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1334610605 CA366279478 |
222 | A>P | No |
ClinGen TOPMed |
|
|
CA366279458 rs1408150607 |
225 | L>P | No |
ClinGen TOPMed |
|
|
CA366279461 rs1469741617 |
225 | L>V | No |
ClinGen gnomAD |
|
|
rs747853157 CA4075260 |
226 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366279427 rs1278783778 |
230 | K>Q | No |
ClinGen TOPMed |
|
|
CA4075238 rs766999471 |
235 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA151013100 rs991049986 |
236 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 238 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366278023 rs1334969871 |
240 | F>S | No |
ClinGen gnomAD |
|
|
CA151013096 rs200014028 |
244 | E>G | No |
ClinGen 1000Genomes |
|
|
rs200017514 CA151013093 |
246 | R>G | No |
ClinGen 1000Genomes |
|
|
rs773947193 CA4075236 |
246 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412256108 CA366277973 |
247 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1412256108 CA366277972 |
247 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366277965 rs1403636263 |
248 | I>M | No |
ClinGen gnomAD |
|
|
rs201942373 CA151013073 |
248 | I>T | No |
ClinGen 1000Genomes |
|
|
CA151013080 rs936946477 |
248 | I>V | No |
ClinGen TOPMed |
|
|
RCV000908381 rs139467617 CA4075233 RCV000503500 |
251 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs202093720 CA4075232 |
253 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA151013049 rs988022263 |
257 | I>V | No |
ClinGen TOPMed |
|
|
rs1180870217 CA366277887 |
259 | P>L | No |
ClinGen gnomAD |
|
|
rs748259286 CA4075229 |
260 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778349337 CA4075230 |
260 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1444209398 CA366277875 |
261 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4075227 rs140658331 |
262 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1204804531 CA366277856 |
264 | A>S | No |
ClinGen gnomAD |
|
|
CA4075226 rs755290364 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4075224 rs779766774 |
265 | P>L | No |
ClinGen ExAC |
|
|
rs1242032493 CA366277852 |
265 | P>S | No |
ClinGen gnomAD |
|
|
rs749537363 CA4075207 |
266 | D>E | No |
ClinGen ExAC |
|
|
CA4075206 rs780325032 |
268 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755819256 CA4075205 |
270 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366277796 rs1415140466 |
271 | A>G | No |
ClinGen gnomAD |
|
|
rs1476884910 CA366277792 |
272 | P>S | No |
ClinGen gnomAD |
|
|
CA4075202 rs757238528 |
273 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1480209914 CA366277777 |
275 | R>G | No |
ClinGen gnomAD |
|
|
rs751056663 CA4075201 |
276 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4075200 rs763660534 |
278 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs757932941 CA4075199 |
279 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA151010071 rs1004884698 |
279 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs752234117 CA4075198 |
281 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1263428295 CA366277736 |
282 | Q>* | No |
ClinGen TOPMed |
|
|
CA4075196 rs372229122 |
284 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4075194 rs768114824 |
285 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4075192 rs774565006 |
288 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA366277682 rs1402586688 |
289 | E>G | No |
ClinGen gnomAD |
|
|
rs940756446 CA151009988 |
291 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4075191 rs768786813 |
292 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749396044 CA4075190 COSM1075460 |
293 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4075189 rs775538153 |
293 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770097167 CA4075188 |
294 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA151009968 rs907990591 |
294 | R>H | No |
ClinGen TOPMed |
|
|
CA366277632 rs1447829222 |
297 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283768019 CA366277614 |
299 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4075183 rs777703007 |
302 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA151009894 rs746882749 |
302 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746882749 CA4075184 |
302 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366277590 rs1198708478 |
303 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1198708478 CA366277591 |
303 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366277566 rs1367071317 |
306 | K>R | No |
ClinGen TOPMed |
|
|
rs780174100 CA4075181 |
307 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA151009874 rs780174100 |
307 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366277556 rs1368776508 |
308 | Q>* | No |
ClinGen gnomAD |
|
|
CA4075178 rs762270034 |
310 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA366277543 rs1163752097 |
310 | R>Q | No |
ClinGen TOPMed |
|
|
CA4075176 rs762270034 |
310 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs752053328 CA4075175 |
313 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4075173 rs762913456 |
314 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178527733 CA366277495 |
317 | Q>* | No |
ClinGen gnomAD |
|
|
rs974651390 CA151009827 |
318 | L>V | No |
ClinGen TOPMed |
|
|
CA366277473 rs1157801061 |
320 | R>Q | No |
ClinGen gnomAD |
|
|
rs1425653207 CA366277474 |
320 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1448726033 CA366277460 |
321 | Q>K | No |
ClinGen TOPMed |
|
|
rs1016073887 CA151009276 |
329 | R>K | No |
ClinGen Ensembl |
|
|
CA4075129 rs778271542 |
330 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366277390 rs1423896251 |
330 | R>S | No |
ClinGen gnomAD |
|
|
rs375840157 COSM1196885 CA4075127 |
333 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1182005853 CA366277351 |
336 | E>G | No |
ClinGen TOPMed |
|
|
rs1056973 CA151009256 |
337 | K>E | No |
ClinGen Ensembl |
|
|
CA4075125 rs1056974 |
337 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs753956634 CA4075122 |
338 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755662102 CA4075121 |
342 | R>C | No |
ClinGen ExAC TOPMed |
|
|
rs374945393 CA4075119 |
342 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 343 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA151009192 rs370369131 |
344 | K>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4075117 rs767272547 |
344 | K>R | No |
ClinGen ExAC |
|
|
CA4075115 rs761523413 |
345 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1562490194 CA366277290 |
345 | E>K | No |
ClinGen Ensembl |
|
|
rs1220736077 CA366277281 |
346 | E>* | No |
ClinGen gnomAD |
|
|
rs1296099928 CA366277277 |
346 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1220736077 CA366277282 |
346 | E>K | No |
ClinGen gnomAD |
|
|
CA366277278 rs1341337283 |
346 | E>V | No |
ClinGen gnomAD |
|
|
CA366277269 rs1383101149 |
347 | L>F | No |
ClinGen TOPMed |
|
|
CA4075110 rs775200943 |
350 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141741749 CA4075111 |
350 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4075109 rs769570013 |
352 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA366277233 rs1373282111 |
353 | D>E | No |
ClinGen gnomAD |
|
|
rs745450636 CA4075108 |
353 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366277239 rs1310991721 |
353 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4075107 rs780721379 |
354 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075104 rs779446669 |
357 | K>N | No |
ClinGen ExAC |
|
|
rs1192316923 CA366277196 |
359 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1457686526 CA366277166 |
363 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA366277162 rs1256291613 |
363 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748521493 CA4075086 |
366 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075083 rs573888893 |
367 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375461988 CA151008003 |
367 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 374 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756135260 CA366277074 |
374 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs112461897 CA151007981 |
377 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444141277 CA366277056 |
377 | E>G | No |
ClinGen gnomAD |
|
|
CA4075079 rs781442683 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4075077 rs142824813 |
381 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4075076 RCV000500569 rs142824813 |
381 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757482195 CA4075078 |
381 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151007965 rs750069127 |
387 | E>D | No |
ClinGen Ensembl |
|
|
rs1283180461 CA366276992 |
387 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs924800680 CA151007961 |
388 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs571220845 CA4075074 COSM207292 |
388 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs571220845 CA366276984 |
388 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs924800680 CA366276986 |
388 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366276973 rs1300619006 |
390 | E>G | No |
ClinGen gnomAD |
|
|
rs1401595701 CA366276969 |
391 | A>T | No |
ClinGen gnomAD |
|
|
rs776055462 CA4075071 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373495274 CA4075070 |
393 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366276955 rs373495274 |
393 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760307938 CA4075069 |
393 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075068 rs772852240 |
394 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA151007898 rs958775616 |
394 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366276934 rs1476901241 |
396 | A>V | No |
ClinGen gnomAD |
|
|
CA4075064 rs770241730 |
398 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075065 rs780497444 |
398 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA151007862 rs1005454942 |
399 | A>T | No |
ClinGen TOPMed |
|
|
CA151007861 rs534304928 |
399 | A>V | No |
ClinGen 1000Genomes |
|
|
rs745950099 CA366276921 |
400 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs745950099 CA4075063 |
400 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4075061 rs200958227 |
404 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1268561246 CA366276884 |
405 | R>K | No |
ClinGen TOPMed |
|
|
CA366276878 rs1337801442 |
406 | Q>E | No |
ClinGen gnomAD |
|
|
CA4075059 rs370037610 |
407 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366276867 COSM3430302 rs1432109736 |
407 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs74524317 CA151007825 |
408 | V>G | No |
ClinGen Ensembl |
|
|
rs76036745 CA151007812 |
409 | D>G | No |
ClinGen Ensembl |
|
|
rs376423496 CA4075035 |
419 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs865985345 CA151007432 |
419 | A>V | No |
ClinGen Ensembl |
|
|
CA366276685 rs1349321819 |
422 | A>V | No |
ClinGen gnomAD |
|
|
COSM1075458 rs767132690 CA4075032 |
426 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA366276607 rs1298991024 |
428 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1447321515 CA366276591 |
429 | A>V | No |
ClinGen gnomAD |
|
|
CA4075031 rs761522478 |
430 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1332029658 CA366276587 |
430 | L>V | No |
ClinGen gnomAD |
|
|
CA151007369 rs901273746 |
433 | E>K | No |
ClinGen Ensembl |
|
|
CA366276548 rs372349918 |
434 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4075027 rs372349918 |
434 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201721119 CA151007348 |
435 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201721119 CA4075024 |
435 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770216148 CA4075025 |
435 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366276543 rs1212470838 |
436 | R>K | No |
ClinGen gnomAD |
|
|
rs748310556 CA4075022 |
437 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4075021 rs779204762 |
437 | R>H | Variant assessed as Somatic; 5.42e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs918733837 CA151007323 |
439 | E>A | No |
ClinGen Ensembl |
|
|
CA366276525 rs1214823969 |
439 | E>Q | No |
ClinGen TOPMed |
|
|
CA366276518 rs1307902600 |
440 | D>N | No |
ClinGen gnomAD |
|
|
rs1377325628 CA366276502 |
442 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs151079610 CA4075019 |
443 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4075017 rs571956890 |
444 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366276489 rs1415523867 |
444 | E>K | No |
ClinGen gnomAD |
|
|
CA4075018 rs571956890 |
444 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366276473 rs1417572136 |
446 | Q>* | No |
ClinGen gnomAD |
|
|
rs1194720810 CA366276254 |
450 | K>R | No |
ClinGen gnomAD |
|
|
rs769531260 CA4074981 |
451 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs745695551 CA4074980 |
452 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA151004948 rs549608592 |
452 | A>V | No |
ClinGen Ensembl |
|
|
CA366276231 rs1481011976 |
454 | D>N | No |
ClinGen gnomAD |
|
|
CA4074979 rs781077747 |
455 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA366276215 rs1232443906 |
456 | L>V | No |
ClinGen gnomAD |
|
|
CA4074978 rs770907545 |
457 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA366276202 rs1234809361 |
458 | K>R | No |
ClinGen gnomAD |
|
|
rs757854700 CA4074975 |
460 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA366276179 rs1351371407 |
461 | E>D | No |
ClinGen TOPMed |
|
|
rs1392571214 CA366276185 |
461 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 464 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1003792934 CA151004890 |
464 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA151004899 rs748898161 |
464 | H>Y | No |
ClinGen TOPMed |
|
|
CA151004869 rs771203450 |
466 | V>M | No |
ClinGen Ensembl |
|
|
CA4074969 rs768114763 |
467 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366276145 rs1214477811 |
467 | M>T | No |
ClinGen gnomAD |
|
|
CA4074971 rs750853452 |
467 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs145546748 CA151004805 |
469 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA4074968 rs762440155 |
469 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4074966 rs764178849 |
470 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA366276129 rs1255549881 |
470 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000911147 CA4074965 rs139613796 |
471 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 471 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366276124 rs1350784415 |
471 | P>S | No |
ClinGen gnomAD |
|
|
rs71565720 CA151004753 |
472 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759308651 CA4074962 |
472 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4074963 rs71565720 |
472 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA151004739 rs899228006 |
473 | P>S | No |
ClinGen TOPMed |
|
|
CA366276113 rs1037714840 |
474 | P>A | No |
ClinGen TOPMed |
|
|
rs370231777 CA4074960 |
474 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA151004695 rs370231777 |
474 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA151004698 rs1037714840 |
474 | P>T | No |
ClinGen TOPMed |
|
|
CA366276106 rs1412429992 |
475 | P>L | No |
ClinGen gnomAD |
|
|
CA4074957 rs771560235 |
475 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778674522 CA4074955 |
476 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754726895 CA4074954 |
476 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366276104 rs778674522 |
476 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366276099 rs1210643389 |
477 | V>G | No |
ClinGen TOPMed |
|
|
CA366276101 rs200777711 |
477 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs200777711 CA4074951 |
477 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
| TCGA novel | 477 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4074947 rs375043853 |
478 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764541522 CA4074949 |
478 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs752056877 CA4074950 |
478 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs371154803 CA4074946 |
479 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA151004613 rs371154803 |
479 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4074944 rs147792801 COSM1205912 |
480 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4074945 rs759825698 |
480 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1583551548 CA366276076 |
481 | V>G | No |
ClinGen Ensembl |
|
|
rs1206725031 CA366276073 |
482 | S>C | No |
ClinGen gnomAD |
|
|
rs988578005 CA151004565 |
484 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA151004564 rs955935155 |
484 | H>L | No |
ClinGen TOPMed |
|
|
CA366276054 rs773159233 |
484 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4074939 rs747635983 |
486 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583551517 CA366276045 |
486 | Q>P | No |
ClinGen Ensembl |
|
|
CA4074937 rs568900289 |
488 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774061824 CA4074938 |
488 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4074934 rs757603987 |
491 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs747373858 COSM382437 CA4074933 |
492 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1390232353 CA366275999 |
492 | E>G | No |
ClinGen gnomAD |
|
|
rs778322408 CA4074932 |
493 | G>D | No |
ClinGen ExAC |
|
|
CA366275997 rs1463021657 |
493 | G>S | No |
ClinGen gnomAD |
|
|
CA4074930 RCV000956436 COSM4160332 rs2230143 VAR_030573 |
494 | A>P | thyroid [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2230143 CA4074929 |
494 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370434486 CA4074928 |
494 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs71565719 CA151004483 |
495 | E>K | No |
ClinGen Ensembl |
|
|
rs1240325924 CA366275977 |
496 | P>L | No |
ClinGen gnomAD |
|
|
rs377390941 CA4074927 COSM1284797 |
497 | T>M | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4074925 rs760482714 |
498 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4074924 rs772925836 |
500 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA366275951 rs1273252866 |
501 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4074922 rs144164935 |
501 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4074919 rs762584389 |
503 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs139151592 CA366275897 |
509 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4074915 rs139151592 |
509 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4074916 rs747387588 |
509 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366275896 rs1419361250 |
510 | D>N | No |
ClinGen TOPMed |
|
|
rs1330727229 CA366275882 |
511 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772494253 CA4074914 |
512 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748599655 CA4074913 |
512 | R>H | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366275880 rs772494253 |
512 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544067999 CA4074911 |
513 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162237072 CA366275865 |
514 | E>G | No |
ClinGen TOPMed |
|
|
CA4074910 rs753956567 |
515 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1562487890 CA366275853 |
516 | K>E | No |
ClinGen Ensembl |
|
|
rs780296651 CA4074908 |
517 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1469513132 CA366275844 |
517 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750228124 CA4074906 |
518 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1436528488 CA366275830 |
519 | T>I | No |
ClinGen TOPMed |
|
|
rs542481082 CA4074903 |
521 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764168528 CA4074902 |
522 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA366275794 rs752491639 |
524 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308835305 CA366275791 |
525 | E>G | No |
ClinGen gnomAD |
|
|
rs781182006 CA4074900 |
525 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4074899 rs372964315 |
526 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759048083 CA4074898 |
526 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366275783 rs759048083 |
526 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366275786 rs372964315 |
526 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366275770 CA4074896 rs772381518 |
528 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs750505933 CA4074894 |
529 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369354383 CA4074895 RCV000502547 |
529 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| VAR_015112 | 532 | L>V | No | UniProt | |
|
CA4074866 rs146254762 RCV000501798 |
533 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs967334939 CA151003935 |
535 | S>T | No |
ClinGen Ensembl |
|
|
rs1166544580 CA366275718 |
536 | S>G | No |
ClinGen gnomAD |
|
|
CA4074861 rs754411846 |
537 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275105452 CA366275679 |
542 | R>* | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761099985 CA4074856 |
542 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763398155 CA4074855 |
543 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA366275671 rs1370985872 |
543 | D>V | No |
ClinGen TOPMed |
|
|
rs775820149 CA4074854 |
545 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA151003853 rs202176005 |
545 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4074853 rs754032500 |
548 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4074851 rs776919766 |
549 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776919766 CA4074852 |
549 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366275632 rs1439687660 |
549 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4074850 rs771140074 |
550 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA151003801 rs963735436 |
552 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA151003807 rs996191299 |
552 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201709066 CA4074848 |
554 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA4074847 rs141743123 |
555 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4074845 rs374282651 |
556 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4074844 rs374282651 |
556 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4074843 rs753339294 |
558 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1255167135 CA366275572 |
558 | M>V | No |
ClinGen gnomAD |
|
|
CA366275563 rs1480356990 |
559 | R>K | No |
ClinGen gnomAD |
|
|
rs1309244595 CA366275543 |
562 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765806455 CA4074842 |
562 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA151003757 rs886692539 |
566 | K>E | No |
ClinGen TOPMed |
|
|
CA151003741 rs767187886 |
566 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4074840 rs750026557 |
566 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs763195862 CA4074838 |
567 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs146322319 CA4074835 |
569 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765658771 CA4074836 |
569 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA366275447 rs1385101743 |
570 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 572 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370993123 CA4074834 |
572 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463961609 CA366275422 |
572 | R>W | No |
ClinGen gnomAD |
|
|
rs771088740 CA4074833 |
573 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1430541322 CA366275323 |
579 | R>C | No |
ClinGen TOPMed |
|
|
rs773540978 CA4074831 |
580 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248495125 CA366275296 |
581 | D>N | No |
ClinGen gnomAD |
|
|
CA366275257 rs778831723 |
583 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774868246 CA151003657 |
584 | E>K | No |
ClinGen Ensembl |
No associated diseases with P15311
10 regional properties for P15311
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 5 - 295 | IPR000299 |
| domain | Ezrin/radixin/moesin, C-terminal | 511 - 586 | IPR011259 |
| domain | FERM, N-terminal | 9 - 68 | IPR018979 |
| domain | FERM, C-terminal PH-like domain | 210 - 299 | IPR018980 |
| conserved_site | FERM conserved site | 58 - 88 | IPR019747-1 |
| conserved_site | FERM conserved site | 176 - 205 | IPR019747-2 |
| domain | FERM central domain | 92 - 206 | IPR019748 |
| domain | Band 4.1 domain | 1 - 206 | IPR019749 |
| domain | ERM family, FERM domain C-lobe | 200 - 296 | IPR041789 |
| domain | Ezrin/radixin/moesin, alpha-helical domain | 337 - 456 | IPR046810 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23281 | MERLIN/MOESIN/EZRIN/RADIXIN |
| PANTHER Subfamily | PTHR23281:SF13 | EZRIN |
| PANTHER Protein Class |
cytoskeletal protein
actin or actin-binding cytoskeletal protein |
|
| PANTHER Pathway Category | No pathway information available | |
33 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| 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. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cell periphery | The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cortical cytoskeleton | The portion of the cytoskeleton that lies just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of apical plasma membrane | The side (leaflet) of the apical region of the plasma membrane that faces the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| 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). |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| microvillus membrane | The portion of the plasma membrane surrounding a microvillus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| plasma membrane raft | A membrane raft that is part of the plasma membrane. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
| uropod | A membrane projection with related cytoskeletal components at the trailing edge of a cell in the process of migrating or being activated, found on the opposite side of the cell from the leading edge or immunological synapse, respectively. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
15 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| 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. |
| disordered domain specific binding | Binding to a disordered domain of a protein. |
| identical protein binding | Binding to an identical protein or proteins. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein kinase A binding | Binding to a protein kinase A. |
| protein kinase A catalytic subunit binding | Binding to one or both of the catalytic subunits of protein kinase A. |
| protein kinase A regulatory subunit binding | Binding to one or both of the regulatory subunits of protein kinase A. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| S100 protein binding | Binding to a S100 protein. S100 is a small calcium and zinc binding protein produced in astrocytes that is implicated in Alzheimer's disease, Down Syndrome and ALS. |
36 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton reorganization | A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament bundle assembly | The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| astral microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of astral microtubules, any of the spindle microtubules that radiate in all directions from the spindle poles. |
| cellular response to cAMP | 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 cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| cortical microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cell cortex, i.e. just beneath the plasma membrane of a cell. |
| establishment of centrosome localization | The directed movement of the centrosome to a specific location. |
| 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 or maintenance of apical/basal cell polarity | Any cellular process that results in the specification, formation or maintenance polarization of a cell's architecture along its apical/basal axis so that the apical and basal regions of the cell have different membrane, extracellular matrix and sub-membrane cellular components. |
| filopodium assembly | The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| intestinal D-glucose absorption | Uptake of D-glucose into the blood by absorption from the small intestine. |
| leukocyte cell-cell adhesion | The attachment of a leukocyte to another cell via adhesion molecules. |
| membrane to membrane docking | The initial attachment of a membrane to a target membrane, mediated by proteins protruding from the two membranes. Docking requires only that the membranes come close enough for the proteins to interact and adhere. |
| microvillus assembly | Formation of a microvillus, a thin cylindrical membrane-covered projection on the surface of a cell. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of interleukin-2 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-2 production. |
| negative regulation of p38MAPK cascade | Any process that stops, prevents or reduces the frequency, rate or extent of p38MAPK cascade. |
| negative regulation of T cell receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| 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 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 multicellular organism growth | Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size. |
| 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. |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| positive regulation of protein secretion | Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. |
| 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 cell cortex | A process in which a protein is transported to, or maintained in, the cell cortex. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein-containing complex localization | A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. |
| receptor internalization | A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of microvillus length | A process that modulates the length of a microvillus. |
| regulation of organelle assembly | Any process that modulates the frequency, rate or extent of organelle assembly. |
| sphingosine-1-phosphate receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by sphingosine-1-phosphate binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| terminal web assembly | The aggregation, arrangement and bonding together of a set of components to form a terminal web. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2HJ49 | MSN | Moesin | Bos taurus (Bovine) | PR |
| Q32LP2 | RDX | Radixin | Bos taurus (Bovine) | SS |
| P31976 | EZR | Ezrin | Bos taurus (Bovine) | PR |
| 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 |
| P26038 | MSN | Moesin | Homo sapiens (Human) | EV |
| P35240 | NF2 | Merlin | Homo sapiens (Human) | EV |
| P35241 | RDX | Radixin | Homo sapiens (Human) | SS |
| A2AD83 | Frmd7 | FERM domain-containing protein 7 | Mus musculus (Mouse) | PR |
| P26041 | Msn | Moesin | Mus musculus (Mouse) | SS |
| P26043 | Rdx | Radixin | Mus musculus (Mouse) | SS |
| P46662 | Nf2 | Merlin | Mus musculus (Mouse) | SS |
| P26040 | Ezr | Ezrin | 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 | DQVVKTIGLR | EVWYFGLHYV | DNKGFPTWLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDKKVSAQEV | RKENPLQFKF | RAKFYPEDVA | EELIQDITQK | LFFLQVKEGI | LSDEIYCPPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TAVLLGSYAV | QAKFGDYNKE | VHKSGYLSSE | RLIPQRVMDQ | HKLTRDQWED | RIQVWHAEHR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GMLKDNAMLE | YLKIAQDLEM | YGINYFEIKN | KKGTDLWLGV | DALGLNIYEK | DDKLTPKIGF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PWSEIRNISF | NDKKFVIKPI | DKKAPDFVFY | APRLRINKRI | LQLCMGNHEL | YMRRRKPDTI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVQQMKAQAR | EEKHQKQLER | QQLETEKKRR | ETVEREKEQM | MREKEELMLR | LQDYEEKTKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AERELSEQIQ | RALQLEEERK | RAQEEAERLE | ADRMAALRAK | EELERQAVDQ | IKSQEQLAAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LAEYTAKIAL | LEEARRRKED | EVEEWQHRAK | EAQDDLVKTK | EELHLVMTAP | PPPPPPVYEP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VSYHVQESLQ | DEGAEPTGYS | AELSSEGIRD | DRNEEKRITE | AEKNERVQRQ | LLTLSSELSQ |
| 550 | 560 | 570 | 580 | ||
| ARDENKRTHN | DIIHNENMRQ | GRDKYKTLRQ | IRQGNTKQRI | DEFEAL |