Q6P1S2
Gene name |
C3orf33 (MSTP052) |
Protein name |
Protein C3orf33 |
Names |
Protein AC3-33 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:285315 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6P1S2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6P1S2-F1 | Predicted | AlphaFoldDB |
233 variants for Q6P1S2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA355225289 rs1329097770 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1054521697 CA86370920 |
3 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA86370922 rs528468416 |
3 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA86370921 rs528468416 |
3 | G>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs932154681 CA86370919 |
4 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA355225275 rs1577444389 |
4 | Q>R | No |
ClinGen Ensembl |
|
|
CA355225263 rs1157118429 |
5 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2677181 rs760030246 |
5 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760030246 CA355225270 |
5 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430260820 CA355225247 |
7 | A>V | No |
ClinGen gnomAD |
|
|
rs1577444348 CA355225239 |
8 | T>S | No |
ClinGen Ensembl |
|
|
rs982449322 CA86370917 |
10 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1194315126 CA355225218 |
11 | P>S | No |
ClinGen gnomAD |
|
|
rs1165309327 CA355225193 |
14 | D>Y | No |
ClinGen TOPMed |
|
|
rs1263411850 CA355225156 |
17 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs929637318 CA86370915 |
17 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 18 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355225131 rs1410483858 |
19 | E>D | No |
ClinGen TOPMed |
|
|
CA355225140 rs1372545210 |
19 | E>K | No |
ClinGen TOPMed |
|
|
rs1225009959 CA355225119 |
21 | N>H | No |
ClinGen gnomAD |
|
|
CA86370914 rs569643608 |
21 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3392155 CA2677177 rs569643608 |
21 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1242348119 CA355225107 |
22 | V>F | No |
ClinGen TOPMed |
|
|
rs1285803604 CA355225094 |
23 | V>G | No |
ClinGen TOPMed |
|
|
CA355225081 rs1272000899 |
25 | R>P | No |
ClinGen TOPMed |
|
|
rs973880269 CA86370913 |
25 | R>W | No |
ClinGen TOPMed |
|
|
CA355225077 rs1328133198 |
26 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355225076 rs1328133198 |
26 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA86370912 rs900189230 |
29 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355225001 rs1406869377 |
33 | H>Q | No |
ClinGen gnomAD |
|
|
CA2677176 rs769441633 |
35 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA86370910 rs1034186752 |
37 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA86370909 rs981234239 |
38 | R>Q | No |
ClinGen TOPMed |
|
|
CA355224780 rs1300234104 |
41 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs928080378 CA86370551 |
42 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA86370550 rs750625365 |
44 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1403927511 CA355224747 |
46 | I>V | No |
ClinGen gnomAD |
|
|
rs9853408 VAR_028846 CA2677144 |
47 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755082628 CA2677143 |
47 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780441088 CA2677141 |
50 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2677142 rs544614355 |
50 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355224699 rs1431654981 |
53 | L>F | No |
ClinGen gnomAD |
|
|
CA355224671 rs1447640415 |
57 | R>L | No |
ClinGen gnomAD |
|
|
CA355224673 rs1447640415 |
57 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1473080092 CA355224579 |
59 | T>A | No |
ClinGen gnomAD |
|
|
CA2677121 rs747097030 |
59 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1482907946 CA355224568 |
61 | K>E | No |
ClinGen gnomAD |
|
|
CA355224565 rs1293184527 |
61 | K>R | No |
ClinGen gnomAD |
|
|
rs1049848900 CA86367614 |
63 | T>I | No |
ClinGen TOPMed |
|
|
CA355224548 rs1049848900 |
63 | T>R | No |
ClinGen TOPMed |
|
|
CA2677119 rs773930331 |
66 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2677117 rs779189172 |
67 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355224528 rs779189172 |
67 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757715285 CA2677116 |
69 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754193725 CA2677115 |
70 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2677114 rs373917613 |
73 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355224480 rs1294881561 |
74 | R>T | No |
ClinGen TOPMed |
|
|
CA86367611 rs944638492 |
76 | N>S | No |
ClinGen Ensembl |
|
|
CA2677112 rs755821715 |
80 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2677111 rs752205296 |
80 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767031253 CA2677110 |
82 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs759430996 CA355224430 |
82 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2677109 rs759430996 |
82 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1209762141 CA355224427 |
83 | L>* | No |
ClinGen TOPMed |
|
|
CA2677108 rs369831735 |
84 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2677107 rs185882867 |
84 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372471912 CA2677106 |
85 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA86367610 rs547864770 |
85 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs772926722 CA2677105 |
86 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355224383 rs1267189988 |
90 | G>A | No |
ClinGen gnomAD |
|
|
rs369308629 CA86367608 |
93 | I>T | No |
ClinGen ESP |
|
|
CA355224350 rs1208738396 |
95 | H>Y | No |
ClinGen gnomAD |
|
|
rs1329181863 CA355224340 |
96 | I>T | No |
ClinGen gnomAD |
|
|
CA355224343 rs1191045441 |
96 | I>V | No |
ClinGen TOPMed |
|
|
rs768936243 CA2677104 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760876495 CA2677103 |
100 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA355224303 rs1328035065 |
102 | I>T | No |
ClinGen gnomAD |
|
|
rs775484907 CA2677102 |
103 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2677101 rs772163679 |
104 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs73021523 CA2677100 |
105 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329286745 CA355224288 |
105 | S>P | No |
ClinGen gnomAD |
|
|
CA2677098 rs771493766 |
106 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs868166687 CA86366738 |
109 | E>K | No |
ClinGen gnomAD |
|
|
CA355224252 rs868166687 |
109 | E>Q | No |
ClinGen gnomAD |
|
|
CA2677080 rs200279997 |
111 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2677079 rs372934756 |
111 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1205601051 CA355224226 |
113 | A>D | No |
ClinGen gnomAD |
|
|
rs1279418688 CA355224228 |
113 | A>T | No |
ClinGen gnomAD |
|
|
rs571680741 CA2677078 |
116 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2677077 rs770312301 |
121 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355224179 rs770312301 |
121 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355224163 rs1274602336 |
123 | L>H | No |
ClinGen TOPMed |
|
|
rs780911655 CA86366737 |
124 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780911655 CA2677075 |
124 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754521952 CA2677074 |
124 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2677073 rs374977209 |
125 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1431952234 CA355224142 |
127 | G>R | No |
ClinGen gnomAD |
|
|
CA355224132 rs1406434138 |
128 | K>N | No |
ClinGen gnomAD |
|
|
rs758381736 CA2677070 |
128 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA86366735 rs766217252 |
130 | W>* | No |
ClinGen Ensembl |
|
|
CA355224119 CA2677069 rs750333331 |
130 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757102561 CA2677067 |
134 | E>A | No |
ClinGen ExAC |
|
|
rs371550942 CA2677066 |
134 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2677068 rs765123303 |
134 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs367615105 CA2677064 |
137 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550135854 CA2677065 |
137 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3660291 CA355224041 rs1334458234 |
142 | W>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2677060 rs773878164 |
145 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs374827619 CA2677059 |
146 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465345013 CA355224001 |
148 | K>N | No |
ClinGen TOPMed |
|
|
rs1002311063 CA86366734 |
148 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355223998 rs748550366 |
149 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748550366 CA2677058 |
149 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912659031 CA86366733 |
152 | A>T | No |
ClinGen Ensembl |
|
|
CA355223972 rs1467764120 |
153 | L>I | No |
ClinGen gnomAD |
|
|
CA355223947 rs1403036856 |
156 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA86366732 rs988606922 |
157 | L>V | No |
ClinGen Ensembl |
|
|
CA2677054 rs549220115 |
158 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA86366731 rs1031451053 |
159 | V>M | No |
ClinGen Ensembl |
|
|
CA2677053 VAR_028847 rs358733 |
160 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355223926 rs358733 |
160 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1473349506 CA355223915 |
161 | K>N | No |
ClinGen gnomAD |
|
|
rs1189444289 CA355223901 |
162 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1189444289 CA355223900 |
162 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs374247931 CA2677039 |
163 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1210671395 CA355223882 |
165 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355223872 rs1256888901 |
166 | S>N | No |
ClinGen gnomAD |
|
|
CA355223869 rs115731681 |
166 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147770210 CA2677037 |
167 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147770210 CA2677036 |
167 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355223859 rs1285689734 |
168 | N>S | No |
ClinGen TOPMed |
|
|
rs1211287333 CA355223841 |
171 | E>K | No |
ClinGen gnomAD |
|
|
CA355223832 rs1314264927 |
172 | E>* | No |
ClinGen gnomAD |
|
|
CA355223834 rs1314264927 |
172 | E>K | No |
ClinGen gnomAD |
|
|
rs747337825 CA2677035 |
175 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355223796 rs1243226883 |
177 | G>D | No |
ClinGen gnomAD |
|
|
rs1436574370 CA355223798 |
177 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775150071 CA2677034 |
178 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1287886459 CA355223778 |
180 | K>R | No |
ClinGen gnomAD |
|
|
rs772069197 CA86366355 |
182 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2677033 rs771659485 |
183 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355223757 rs1313879780 |
184 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs745444960 CA2677032 |
186 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1190605561 CA355223744 |
186 | G>R | No |
ClinGen gnomAD |
|
|
CA2677031 rs778285413 |
187 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770945064 CA2677030 |
189 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2677029 rs749161316 |
191 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254684331 CA355223700 |
192 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343503296 CA355223693 |
193 | I>S | No |
ClinGen gnomAD |
|
|
CA355223697 rs1210611982 |
193 | I>V | No |
ClinGen gnomAD |
|
|
CA355223684 CA355223685 rs7653384 |
194 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2677027 rs755894625 |
195 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA355223669 rs1324215277 |
197 | V>I | No |
ClinGen gnomAD |
|
|
CA355223662 rs1191766689 |
198 | H>Y | No |
ClinGen TOPMed |
|
|
rs1294209517 CA355223655 |
199 | R>G | No |
ClinGen gnomAD |
|
|
rs752474590 CA2677026 |
204 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2677025 rs780436730 |
205 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA86366353 rs575233706 |
207 | T>K | No |
ClinGen 1000Genomes |
|
|
CA2677024 rs758679808 |
209 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2677023 rs750597545 |
210 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA86366350 rs1024755082 |
210 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs952664076 CA86366351 |
210 | K>R | No |
ClinGen TOPMed |
|
| rs762988845 | 212 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355223569 rs1559985743 |
212 | G>R | No |
ClinGen Ensembl |
|
|
rs1424407717 CA355223543 |
215 | I>M | No |
ClinGen TOPMed |
|
|
rs993232711 CA86366349 |
216 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765199403 CA2677019 |
217 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1425847488 CA355223531 |
217 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770619794 CA86366348 |
220 | S>C | No |
ClinGen Ensembl |
|
|
CA2677017 rs764618620 |
223 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483563733 CA355223472 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
CA355223436 rs1254381039 |
230 | K>Q | No |
ClinGen gnomAD |
|
|
rs775769963 CA2677014 |
233 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571937562 CA2677013 |
236 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1291002242 CA355223378 |
237 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2677012 rs759161457 |
237 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2677011 rs773963276 |
240 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355223354 rs1158751932 |
241 | S>R | No |
ClinGen TOPMed |
|
|
rs770372441 CA2677009 |
243 | L>* | No |
ClinGen ExAC gnomAD |
|
| rs776314192 | 243 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748793393 CA2677007 |
246 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201584610 CA2677006 |
246 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769797856 CA2677005 |
247 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs113890115 CA2677003 |
251 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113890115 CA2677002 |
251 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2677001 rs750650694 |
252 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2677000 rs779145276 |
255 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355223257 rs1268601798 |
255 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1268601798 CA355223256 |
255 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 255 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779145276 CA355223259 |
255 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268601798 CA355223255 |
255 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753885223 CA2676998 |
258 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577407228 CA355223235 |
258 | Y>H | No |
ClinGen Ensembl |
|
|
rs1010546435 CA86366346 |
259 | E>G | No |
ClinGen TOPMed |
|
|
CA2676996 rs761170768 |
261 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761170768 CA86366345 |
261 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355223156 rs1329402938 |
265 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs753103866 CA2676995 |
265 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs576856906 CA2676993 |
266 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1041819349 CA86366344 |
267 | I>K | No |
ClinGen Ensembl |
|
|
CA355223129 rs1236528213 |
267 | I>M | No |
ClinGen gnomAD |
|
|
CA355223121 rs1439304995 |
268 | W>* | No |
ClinGen TOPMed |
|
|
CA355223081 rs1275931681 |
270 | D>Y | No |
ClinGen TOPMed |
|
|
CA86366343 rs900915488 |
271 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA355223060 rs1356191753 |
272 | M>V | No |
ClinGen gnomAD |
|
|
rs865774212 CA86366342 |
273 | N>D | No |
ClinGen Ensembl |
|
|
rs191188831 CA2676991 |
275 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA86366341 rs914621724 |
277 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355222972 rs1287900306 |
278 | I>T | No |
ClinGen TOPMed |
|
|
CA355222979 rs1351922815 |
278 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 279 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577407121 CA355222958 |
280 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 284 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2676990 rs773907718 |
285 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414381648 CA355222841 |
287 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2676988 rs376595804 |
287 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2676989 rs376595804 |
287 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA86366339 rs1048320257 |
288 | I>T | No |
ClinGen TOPMed |
|
|
CA86366340 rs368379240 |
288 | I>V | No |
ClinGen Ensembl |
|
|
rs769918608 CA2676986 |
290 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2676985 rs200965203 |
291 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2676984 rs200327612 |
291 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355222720 rs1250659535 |
294 | G>R | No |
ClinGen gnomAD |
|
|
rs1212514100 CA355222709 |
294 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768592497 CA2676983 |
295 | G>C | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6P1S2
No regional properties for Q6P1S2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6P1S2 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| regulation of DNA-binding transcription factor activity | Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGQPAATGS | PSADKDGMEP | NVVARISQWA | DDHLRLVRNI | STGMAIAGIM | LLLRSIRLTS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KFTSSSDIPV | EFIRRNVKLR | GRLRRITENG | LEIEHIPITL | PIIASLRKEP | RGALLVKLAG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VELAETGKAW | LQKELKPSQL | LWFQLLGKEN | SALFCYLLVS | KGGYFSVNLN | EEILRRGLGK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TVLVKGLKYD | SKIYWTVHRN | LLKAELTALK | KGEGIWKEDS | EKESYLEKFK | DSWREIWKKD |
| 250 | 260 | 270 | 280 | 290 | |
| SFLKTTGSDF | SLKKESYYEK | LKRTYEIWKD | NMNNCSLILK | FRELISRINF | RRKG |