Q9UK55
PR
Gene name |
SERPINA10 (ZPI, UNQ707/PRO1358) |
Protein name |
Protein Z-dependent protease inhibitor |
Names |
PZ-dependent protease inhibitor, PZI, Serpin A10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51156 |
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
5 structures for Q9UK55
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3F1S | X-ray | 230 A | A | 60-444 | PDB |
| 3H5C | X-ray | 326 A | A | 22-444 | PDB |
| 4AFX | X-ray | 209 A | PDB | ||
| 4AJU | X-ray | 265 A | PDB | ||
| AF-Q9UK55-F1 | Predicted | AlphaFoldDB |
399 variants for Q9UK55
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2232698 RCV001258290 CA7326785 |
88 | R>* | LAMB2-related infantile-onset nephrotic syndrome [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA210690 RCV000005413 rs61754487 |
324 | W>* | Venous thrombosis, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1252408632 CA390847347 |
2 | K>R | No |
gnomAD ClinGen |
|
|
rs951359189 CA265853776 |
3 | V>A | No |
ClinGen Ensembl |
|
|
rs764506056 CA7326857 |
5 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA390847256 rs1292873857 |
5 | P>S | No |
ClinGen gnomAD |
|
|
rs1284690228 CA390847249 |
6 | S>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1284690228 CA390847248 |
6 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
rs2232695 CA7326856 |
7 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776108658 CA390847239 |
8 | L>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390847232 rs1389677714 |
9 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs776455616 CA7326851 |
11 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759069270 CA7326852 |
11 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1168089679 CA390847214 |
12 | L>P | No |
gnomAD ClinGen |
|
|
rs1212017231 CA390847204 |
14 | A>E | No |
TOPMed ClinGen |
|
|
rs1468206951 CA390847207 |
14 | A>T | No |
TOPMed ClinGen |
|
|
rs770641317 CA7326849 |
15 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs906705638 CA265853671 |
16 | V>E | No |
ClinGen Ensembl |
|
|
rs1432981427 CA390847183 |
17 | W>* | No |
ClinGen gnomAD |
|
|
rs370277728 CA265853659 |
18 | L>P | No |
ESP TOPMed ClinGen |
|
|
rs771899562 CA7326847 |
19 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771899562 CA7326846 |
19 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA390847171 rs1251198060 |
20 | P>A | No |
gnomAD ClinGen |
|
|
rs2232696 CA7326842 |
21 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs2232696 CA7326843 |
21 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781406173 CA7326841 |
23 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053021477 CA390847144 |
25 | S>G | No |
ClinGen TOPMed |
|
|
CA265853595 rs1053021477 |
25 | S>R | No |
TOPMed ClinGen |
|
|
rs1231702295 CA390847141 |
25 | S>T | No |
ClinGen gnomAD |
|
|
rs1307488297 CA390847129 |
27 | Q>* | No |
ClinGen gnomAD |
|
|
CA7326840 rs554299585 |
27 | Q>P | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs2232697 COSM228169 CA7326838 |
28 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 29 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265853536 rs574530495 |
30 | E>D | No |
1000Genomes gnomAD ClinGen |
|
|
rs765799132 CA7326836 |
30 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765799132 CA7326835 |
30 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373532870 CA7326834 |
31 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373532870 CA390847105 |
31 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7326833 rs753344784 |
32 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7326832 rs556196719 |
35 | Q>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA265853488 rs866595046 |
37 | Q>* | No |
ClinGen Ensembl |
|
|
CA390847046 rs1189198977 |
40 | R>M | No |
gnomAD ClinGen |
|
|
CA7326829 CA265853463 rs771782758 |
40 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs761553114 CA7326827 |
42 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774271926 CA7326826 |
43 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
rs781316392 CA7326824 |
44 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7326825 rs201754398 |
44 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA265853444 rs201754398 |
44 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781316392 CA7326823 |
44 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390847024 rs1268009121 |
45 | P>A | No |
gnomAD ClinGen |
|
|
CA390847015 rs941590 |
46 | K>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
VAR_020325 rs941590 CA7326821 |
46 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs753044896 CA7326818 |
47 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758723532 CA7326820 |
47 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs758723532 CA7326819 |
47 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1311193031 CA390847007 |
48 | E>* | No |
gnomAD ClinGen |
|
|
rs1311193031 CA390847006 |
48 | E>K | No |
ClinGen gnomAD |
|
|
CA390846993 rs1395477322 |
49 | E>D | No |
gnomAD ClinGen |
|
|
rs779577223 CA7326817 |
52 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA7326815 rs370475752 |
54 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7326816 rs755604470 |
54 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760212887 CA7326813 |
55 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs140320667 CA390846942 |
56 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7326811 rs767129349 COSM330313 |
57 | E>K | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761606161 CA7326810 |
59 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs774186114 CA7326809 |
60 | A>S | No |
ExAC ClinGen |
|
|
CA390846919 rs774186114 |
60 | A>T | No |
ExAC ClinGen |
|
|
rs941591 CA390846914 |
61 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs941591 VAR_020326 CA7326805 |
61 | S>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs941591 CA7326806 |
61 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770938821 CA7326804 |
62 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390846899 rs1417743985 |
63 | E>K | No |
ClinGen TOPMed |
|
|
CA7326803 rs143455939 |
64 | E>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA390846873 rs1336888197 |
66 | A>V | No |
ClinGen gnomAD |
|
|
rs376353502 CA7326801 |
67 | W>* | No |
ESP ExAC gnomAD ClinGen |
|
|
rs779491175 CA7326799 |
72 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7326800 rs748371688 |
72 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7326798 rs755365896 |
73 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA390846822 rs1388148227 |
74 | Q>* | No |
ClinGen gnomAD |
|
|
CA390846812 rs1456896805 |
75 | L>P | No |
ClinGen gnomAD |
|
|
rs780566586 CA7326796 |
76 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs755580738 CA7326795 |
76 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs373169228 CA7326794 |
77 | K>R | No |
ESP ExAC TOPMed ClinGen |
|
|
CA265853214 rs993520031 |
78 | E>K | No |
ClinGen TOPMed |
|
|
rs1472184826 CA390846784 |
80 | S>T | No |
gnomAD ClinGen |
|
|
CA7326792 rs766919672 |
81 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs778233194 CA7326789 |
83 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200686754 CA7326790 |
83 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7326788 rs762686769 |
85 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1566720150 CA390846701 |
85 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7326787 rs775321518 |
87 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs143859072 CA7326784 |
88 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772276540 CA390846594 |
92 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772276540 CA265853121 |
92 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7326783 rs772276540 |
92 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390846599 rs1282285403 |
92 | M>V | No |
TOPMed ClinGen |
|
|
CA390846567 rs1226251994 |
93 | R>K | No |
gnomAD ClinGen |
|
|
CA7326781 rs774696183 |
95 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390846516 rs774696183 |
95 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs529472591 CA7326780 |
97 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7326779 rs367779044 |
98 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390846420 rs1411081389 |
99 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA390846425 rs1411081389 |
99 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs780434864 CA7326778 |
100 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1414585406 CA390846392 |
100 | F>S | No |
ClinGen TOPMed |
|
|
rs1032100044 CA265853078 |
103 | F>S | No |
ClinGen Ensembl |
|
|
rs746353736 CA7326776 |
105 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs756699189 CA7326777 |
105 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA390846333 rs1172470424 |
105 | M>V | No |
TOPMed ClinGen |
|
|
CA390846323 rs1463264488 |
106 | S>C | No |
ClinGen gnomAD |
|
|
CA7326775 rs780793190 |
107 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA390846312 rs1431491740 |
108 | A>D | No |
TOPMed ClinGen |
|
| TCGA novel | 110 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390846295 rs1193815477 |
110 | T>I | No |
gnomAD ClinGen |
|
|
rs756737941 CA7326774 |
111 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376636518 CA265853059 |
111 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376636518 CA390846294 |
111 | G>S | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA265853046 rs372663141 |
112 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390846288 rs1438379080 |
112 | L>S | No |
ClinGen gnomAD |
|
|
rs372663141 CA7326773 |
112 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA265853017 rs1009198284 |
113 | M>I | No |
TOPMed ClinGen |
|
|
CA7326772 rs763697231 |
113 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA390846265 rs1203143884 |
116 | A>T | No |
gnomAD ClinGen |
|
|
rs1346348412 CA390846255 |
118 | G>R | No |
ClinGen TOPMed |
|
|
CA7326771 rs370404211 |
119 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1236838992 CA390846210 |
124 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390846203 rs1180069515 |
125 | K>N | No |
ClinGen TOPMed |
|
|
rs764929277 CA7326770 |
126 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs764929277 CA7326769 |
126 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA390846196 rs1274673969 |
127 | G>R | No |
ClinGen gnomAD |
|
|
rs759587917 CA7326768 |
128 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs202149884 CA7326767 |
130 | L>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs202149884 CA7326766 |
130 | L>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 132 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774716300 CA7326764 |
132 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA7326763 rs149890122 |
132 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 134 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7326762 rs763071040 |
135 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs570701118 CA7326759 |
136 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781628042 CA7326758 |
138 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA390846129 rs781628042 |
138 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7326756 rs56137907 COSM268151 VAR_038833 |
139 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA265852919 rs941881904 |
140 | L>I | No |
ClinGen gnomAD |
|
|
CA390846116 rs1440956540 |
140 | L>P | No |
ClinGen gnomAD |
|
|
rs375354725 CA7326755 |
142 | P>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7326754 rs147367426 |
143 | S>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA390846097 COSM1707809 rs1286835844 |
144 | L>F | skin [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA390846093 rs1228394827 |
145 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7326752 rs117421112 |
145 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1228394827 CA390846092 |
145 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
CA390846078 rs1313011964 |
147 | G>R | No |
gnomAD ClinGen |
|
|
CA265852904 rs993013444 |
149 | R>I | No |
ClinGen TOPMed |
|
|
rs1339301184 CA390846060 |
150 | E>K | No |
ClinGen TOPMed |
|
|
CA7326749 rs766382941 |
151 | T>N | No |
ExAC ClinGen |
|
|
rs753840117 CA7326750 |
151 | T>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA265852890 rs918675135 |
152 | L>P | No |
Ensembl ClinGen |
|
|
CA7326748 COSM3782859 rs761994120 |
154 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs61761870 CA7326746 |
154 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61761870 CA7326747 |
154 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763272679 CA7326745 |
155 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1170942832 CA390845989 |
157 | E>D | No |
gnomAD ClinGen |
|
|
VAR_051940 CA7326744 rs2232699 |
158 | L>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1566719774 CA390845960 |
159 | G>V | No |
ClinGen Ensembl |
|
|
rs777127554 CA7326741 |
160 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390845940 rs2232700 |
161 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7326740 rs2232700 VAR_020327 |
161 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs958202784 CA265852859 |
162 | Q>K | No |
TOPMed gnomAD ClinGen |
|
|
CA7326738 rs202176196 |
165 | F>Y | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1336143691 CA390845838 |
166 | A>P | No |
gnomAD ClinGen |
|
|
CA390845820 rs1229538806 |
167 | F>L | No |
gnomAD ClinGen |
|
|
COSM3744490 rs747885594 CA7326736 |
169 | H>R | liver [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs753625083 CA7326733 |
172 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367993455 CA7326731 |
173 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7326732 rs779978074 |
173 | D>Y | No |
ExAC ClinGen |
|
|
CA7326730 rs143232539 |
174 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1437456376 CA390845607 |
177 | T>I | No |
ClinGen TOPMed |
|
|
rs764317447 CA390845589 |
178 | F>C | No |
ExAC gnomAD ClinGen |
|
|
rs764317447 CA7326728 |
178 | F>S | No |
ExAC gnomAD ClinGen |
|
|
rs758359566 CA7326727 |
179 | F>L | No |
ExAC ClinGen |
|
|
rs752994713 CA7326726 |
180 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA265852726 rs1008705259 |
181 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390845509 rs370084509 |
182 | S>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7326724 rs370084509 |
182 | S>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA390845483 rs1335852331 |
183 | K>N | No |
ClinGen TOPMed |
|
|
CA7326722 rs766727953 |
185 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7326723 rs777039260 |
185 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7326721 rs761211897 |
186 | F>S | No |
ExAC gnomAD ClinGen |
|
|
CA7326720 rs773689945 |
187 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA390845337 rs1288580357 |
189 | E>G | No |
gnomAD ClinGen |
|
|
CA390845314 rs1214625161 |
190 | C>R | No |
ClinGen gnomAD |
|
|
CA7326719 rs771637964 |
190 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7326716 rs768248475 |
191 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs533103231 CA7326717 COSM3401542 |
191 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs763846419 CA7326714 |
192 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7326713 rs780033228 |
193 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs900143028 CA265852579 |
194 | N>T | No |
gnomAD ClinGen |
|
|
CA7326712 COSM959149 rs200117551 |
196 | R>C | lung endometrium [Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated |
|
VAR_051941 rs2232701 CA7326711 |
196 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs1595566102 CA390845054 |
200 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780950041 CA7326710 |
202 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780950041 CA390845029 |
202 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758509954 CA7326708 CA265852518 |
203 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255362728 CA390844924 |
205 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265852508 rs868033905 |
208 | Y>C | No |
Ensembl ClinGen |
|
|
rs904219976 CA265852509 |
208 | Y>H | No |
ClinGen TOPMed |
|
|
rs1458964534 CA390844810 |
209 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7326706 rs752663121 |
210 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs200578417 CA265852496 |
212 | E>K | No |
ClinGen 1000Genomes |
|
|
CA265852480 rs145668993 |
214 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7326703 rs145668993 |
214 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs570402881 CA7326704 |
214 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7326700 rs773743146 |
216 | K>E | No |
ClinGen ExAC |
|
| TCGA novel | 218 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348115369 CA390844618 |
218 | P>L | No |
ClinGen gnomAD |
|
|
COSM1707807 CA390844626 rs1227298146 |
218 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 219 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982188076 CA265852454 |
220 | L>P | No |
ClinGen Ensembl |
|
|
CA7326696 rs773795286 |
221 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1414612075 CA390844555 |
222 | D>N | No |
TOPMed ClinGen |
|
|
rs1291752522 CA390844537 |
223 | E>K | No |
TOPMed ClinGen |
|
|
CA390844369 rs1368860948 COSM1637538 |
232 | L>F | bone [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs1368860948 CA390844373 COSM959147 |
232 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs916553946 CA265852417 |
232 | L>P | No |
Ensembl ClinGen |
|
|
rs1368860948 CA390844371 |
232 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7326694 rs748995063 |
234 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA390844303 rs1174430351 |
236 | I>N | No |
TOPMed gnomAD ClinGen |
|
|
rs769740792 CA7326692 |
237 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1338744369 | 240 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 240 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390844031 rs1235326507 |
241 | K>E | No |
TOPMed ClinGen |
|
|
rs759469055 CA265851011 |
241 | K>R | No |
ClinGen Ensembl |
|
|
rs1183545878 CA390843998 |
242 | W>* | No |
gnomAD ClinGen |
|
|
CA7326674 rs775285064 |
243 | L>W | No |
ExAC gnomAD ClinGen |
|
|
CA7326673 rs769512383 |
244 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7326671 rs776357374 |
247 | D>G | No |
ExAC gnomAD ClinGen |
|
|
rs746971041 CA7326669 |
248 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7326668 rs777720450 |
249 | V>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777720450 CA390843568 |
249 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA265850977 rs866749199 |
250 | F>L | No |
ClinGen Ensembl |
|
|
COSM1371771 CA7326667 rs768758518 |
252 | E>K | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7326666 rs61737402 |
253 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756390918 CA7326664 |
254 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs780272546 CA7326665 |
254 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750623944 CA7326663 |
255 | T>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390843530 rs781456055 |
255 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1371770 rs781456055 CA7326662 |
255 | T>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA265850933 rs781456055 |
255 | T>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770530709 CA7326660 |
257 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7326661 rs757589959 |
257 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA7326659 rs764628160 |
259 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762566150 CA7326658 |
261 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA265850905 rs760307024 |
261 | Y>H | No |
ClinGen Ensembl |
|
|
rs764836583 CA7326656 |
263 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA265850843 rs772982771 |
267 | P>R | No |
ClinGen Ensembl |
|
|
CA7326654 rs371403716 |
267 | P>S | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1296152232 CA390843448 |
268 | M>T | No |
TOPMed ClinGen |
|
|
rs936977403 CA265850838 |
268 | M>V | No |
ClinGen TOPMed |
|
|
CA7326652 rs375976787 |
269 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2232707 CA390843428 |
270 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs2232708 CA390843426 |
271 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2232708 VAR_038834 CA7326650 |
271 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA265850818 rs967238359 |
272 | A>G | No |
Ensembl ClinGen |
|
|
CA390843415 rs1358340734 |
273 | G>S | No |
gnomAD ClinGen |
|
|
rs748068345 CA265850805 |
274 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748068345 CA7326649 |
274 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7326648 rs780142934 |
276 | A>P | No |
ExAC gnomAD ClinGen |
|
|
CA7326646 rs746098136 |
278 | T>N | No |
ExAC gnomAD ClinGen |
|
|
CA7326647 rs769838497 |
278 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781432685 CA7326645 |
279 | F>L | No |
ExAC gnomAD ClinGen |
|
|
COSM136982 CA7326643 rs267604109 |
284 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778268086 CA7326642 |
284 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390843327 rs1456935311 |
286 | H>R | No |
ClinGen gnomAD |
|
|
rs908316260 CA265850721 |
287 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1471574685 CA390843316 |
288 | L>F | No |
ClinGen TOPMed |
|
|
rs764890060 CA7326639 |
292 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA616114795 rs1247258925 |
293 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390843257 rs1199276442 |
297 | T>A | No |
ClinGen gnomAD |
|
|
rs199663033 CA7326638 |
297 | T>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7326636 rs765992293 |
299 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753466598 CA7326637 |
299 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs773053502 CA7326633 |
300 | V>A | No |
ExAC ClinGen |
|
|
rs760403906 CA7326635 |
300 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA390843235 rs1341691576 |
301 | V>F | No |
gnomAD ClinGen |
|
|
CA390843214 rs1275866291 |
304 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA390843192 rs1323401729 |
306 | M>I | No |
TOPMed gnomAD ClinGen |
|
|
CA390843195 rs1329893860 |
306 | M>T | No |
gnomAD ClinGen |
|
| TCGA novel | 307 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390843185 rs1333184408 |
307 | G>V | No |
ClinGen TOPMed |
|
|
CA7326629 rs769792917 |
308 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767265298 CA7326631 |
308 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7326630 rs142696914 |
308 | D>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs745891136 CA7326626 |
309 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148392580 CA7326623 |
311 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1022272300 CA265850589 |
312 | L>P | No |
TOPMed ClinGen |
|
|
CA390843149 rs1483336942 |
313 | E>D | No |
ClinGen gnomAD |
|
|
rs758814552 CA7326621 |
313 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7326620 rs748688709 |
315 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs1203088116 CA390843078 |
318 | T>I | No |
ClinGen gnomAD |
|
|
CA390843061 rs1220192641 |
319 | D>E | No |
TOPMed ClinGen |
|
|
COSM198525 CA390843037 rs1278304108 |
321 | V>A | large_intestine [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA390842999 rs1279552457 |
324 | W>* | No |
gnomAD ClinGen |
|
|
rs779524045 CA7326619 |
324 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs753334230 CA7326618 |
326 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs765797807 CA7326617 |
327 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs144277580 CA390842938 |
328 | M>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144277580 CA7326616 |
328 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1156790961 CA390842402 |
333 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs966399518 CA265848467 |
333 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
rs779659797 CA7326600 |
338 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA390842355 rs1183642548 CA390842356 |
339 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs147506307 CA7326598 |
343 | D>E | No |
ESP ExAC TOPMed ClinGen |
|
|
rs149414832 CA265848425 |
344 | Q>* | No |
ESP TOPMed ClinGen |
|
|
rs149414832 CA265848443 |
344 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ESP TOPMed ClinGen NCI-TCGA |
|
CA265848396 rs1038503387 |
345 | K>N | No |
TOPMed ClinGen |
|
|
rs991866890 CA265848417 |
345 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7326597 rs780753089 |
348 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs1437115434 CA390842282 |
350 | E>K | No |
TOPMed ClinGen |
|
|
CA390842274 rs1189616196 |
351 | L>M | No |
TOPMed gnomAD ClinGen |
|
|
rs1466482889 CA390842267 |
352 | L>F | No |
ClinGen gnomAD |
|
|
rs1466482889 CA390842269 |
352 | L>I | No |
gnomAD ClinGen |
|
|
rs1266609684 CA390842254 |
354 | Q>* | No |
ClinGen gnomAD |
|
|
rs372623896 CA7326596 |
355 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA265848357 rs1033821273 |
358 | R>G | No |
TOPMed ClinGen |
|
|
CA7326594 rs139982545 |
359 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1566717682 CA390842217 |
359 | R>S | No |
ClinGen Ensembl |
|
|
CA265848335 rs908239517 |
362 | S>L | No |
ClinGen Ensembl |
|
|
CA7326593 rs368871361 |
362 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390842196 rs1200486717 |
363 | P>A | No |
TOPMed ClinGen |
|
|
rs752563180 CA7326592 |
363 | P>H | No |
ExAC gnomAD ClinGen |
|
|
rs952319037 CA265848290 |
365 | A>D | No |
ClinGen TOPMed |
|
|
CA390842168 rs1420873842 |
367 | L>F | No |
TOPMed ClinGen |
|
|
CA7326590 rs760769145 |
368 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs993458912 CA265848283 |
373 | T>N | No |
TOPMed ClinGen |
|
|
CA7326588 rs772368557 |
375 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs762102205 CA7326587 |
380 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs774815463 CA7326586 |
381 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774815463 CA390842055 |
381 | R>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1490866025 CA390840762 |
383 | L>V | No |
TOPMed ClinGen |
|
| VAR_038835 | 384 | Q>P | No | UniProt | |
|
CA7326567 VAR_051942 rs2232710 |
384 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1371769 CA7326566 rs142013081 |
386 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA7326565 rs773811944 |
388 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA265846189 rs1030216171 |
390 | V>A | No |
TOPMed ClinGen |
|
|
CA7326564 rs763190011 |
392 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7326563 rs776089539 |
393 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs375617298 CA7326561 |
393 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1566716696 CA390840552 |
394 | G>D | No |
Ensembl ClinGen |
|
|
rs1483845908 CA390840558 |
394 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1483845908 CA390840560 |
394 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
CA7326560 rs370961499 |
395 | T>I | No |
ClinGen ESP ExAC |
|
|
rs770414872 CA7326559 |
396 | E>K | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 397 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203574737 CA390840524 |
398 | V>E | No |
gnomAD ClinGen |
|
|
CA390840515 rs1405474845 |
400 | G>* | No |
ClinGen TOPMed |
|
| TCGA novel | 400 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758243706 CA7326556 |
401 | I>N | No |
ExAC TOPMed ClinGen |
|
|
CA7326554 rs747847397 |
402 | L>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390840466 rs1289089250 |
407 | A>D | No |
gnomAD ClinGen |
|
|
rs1344774322 CA390840469 |
407 | A>T | No |
ClinGen gnomAD |
|
|
CA390840459 rs1566716637 |
408 | Y>C | No |
Ensembl ClinGen |
|
|
CA390840451 rs1297767442 |
409 | S>C | No |
gnomAD ClinGen |
|
|
rs117152910 CA7326550 |
410 | M>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201447546 CA7326549 |
411 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs1480425032 CA390840434 |
412 | P>S | No |
ClinGen gnomAD |
|
|
rs1017460616 CA265846151 |
417 | D>N | No |
Ensembl ClinGen |
|
|
CA7326546 rs190358836 |
418 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7326547 rs751842440 |
418 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7326545 rs546304706 VAR_070192 |
420 | F>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
CA265846109 rs867557747 |
421 | H>Y | No |
Ensembl ClinGen |
|
| TCGA novel | 422 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765583660 CA7326543 |
423 | M>K | No |
ExAC gnomAD ClinGen |
|
|
rs202084602 CA7326544 |
423 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs760093887 CA7326542 |
425 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
rs1289307661 CA390840346 |
425 | Y>F | No |
ClinGen TOPMed |
|
|
rs145648775 CA7326541 |
426 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770431379 CA7326540 |
427 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7326538 rs201969429 |
430 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs938934156 CA265846078 |
431 | M>V | No |
ClinGen TOPMed |
|
|
rs1396869186 CA390840304 |
432 | L>V | No |
ClinGen gnomAD |
|
|
rs75367241 CA7326537 |
434 | F>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1469576366 CA390840279 |
436 | G>D | No |
ClinGen gnomAD |
|
|
CA390840271 COSM76379 rs1472949765 |
437 | R>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA390840270 rs574684201 CA7326534 |
437 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456107578 CA390840248 |
441 | P>A | No |
gnomAD ClinGen |
|
|
CA7326533 COSM3420138 rs754802803 |
441 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA390840241 rs1338506575 |
442 | T>I | No |
ClinGen TOPMed |
|
|
CA390840236 rs1424048020 |
443 | L>F | No |
gnomAD ClinGen |
|
|
rs1257783075 CA390840234 |
443 | L>P | No |
gnomAD ClinGen |
|
|
rs1181525689 CA390840229 |
444 | L>P | No |
ClinGen gnomAD |
No associated diseases with Q9UK55
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| liver regeneration | The regrowth of lost or destroyed liver. |
| negative regulation of endopeptidase activity | Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. |
35 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9N2I2 | SERPINA5 | Plasma serine protease inhibitor | Bos taurus (Bovine) | PR |
| P41361 | SERPINC1 | Antithrombin-III | Bos taurus (Bovine) | PR |
| A6QPQ2 | SERPINA3-8 | Serpin A3-8 | Bos taurus (Bovine) | PR |
| A2I7N1 | SERPINA3-5 | Serpin A3-5 | Bos taurus (Bovine) | PR |
| Q1JPB0 | SERPINB1 | Leukocyte elastase inhibitor | Bos taurus (Bovine) | PR |
| P13909 | SERPINE1 | Plasminogen activator inhibitor 1 | Bos taurus (Bovine) | PR |
| Q9TTE1 | SERPINA3-1 | Serpin A3-1 | Bos taurus (Bovine) | PR |
| O73790 | SERPINB10 | Heterochromatin-associated protein MENT | Gallus gallus (Chicken) | PR |
| P01008 | SERPINC1 | Antithrombin-III | Homo sapiens (Human) | PR |
| P08697 | SERPINF2 | Alpha-2-antiplasmin | Homo sapiens (Human) | PR |
| Q96P15 | SERPINB11 | Serpin B11 | Homo sapiens (Human) | PR |
| P05121 | SERPINE1 | Plasminogen activator inhibitor 1 | Homo sapiens (Human) | PR |
| P05155 | SERPING1 | Plasma protease C1 inhibitor | Homo sapiens (Human) | PR |
| Q86WD7 | SERPINA9 | Serpin A9 | Homo sapiens (Human) | PR |
| P01011 | SERPINA3 | Alpha-1-antichymotrypsin | Homo sapiens (Human) | PR |
| P07093 | SERPINE2 | Glia-derived nexin | Homo sapiens (Human) | PR |
| Q5SV42 | Serpinb1c | Leukocyte elastase inhibitor C | Mus musculus (Mouse) | PR |
| Q07235 | Serpine2 | Glia-derived nexin | Mus musculus (Mouse) | PR |
| Q8CDC0 | Serpinb13 | Serpin B13 | Mus musculus (Mouse) | PR |
| P22777 | Serpine1 | Plasminogen activator inhibitor 1 | Mus musculus (Mouse) | PR |
| Q5I2A0 | Serpina3g | Serine protease inhibitor A3G | Mus musculus (Mouse) | PR |
| Q9JK88 | Serpini2 | Serpin I2 | Mus musculus (Mouse) | PR |
| P12388 | Serpinb2 | Plasminogen activator inhibitor 2, macrophage | Mus musculus (Mouse) | PR |
| P32261 | Serpinc1 | Antithrombin-III | Mus musculus (Mouse) | PR |
| Q9D154 | Serpinb1a | Leukocyte elastase inhibitor A | Mus musculus (Mouse) | PR |
| Q8BYY9 | Serpina3b | Serine protease inhibitor A3B | Mus musculus (Mouse) | PR |
| Q80X76 | Serpina3f | Serine protease inhibitor A3F | Mus musculus (Mouse) | PR |
| P29524 | Serpinb2 | Plasminogen activator inhibitor 2 type A | Rattus norvegicus (Rat) | PR |
| Q6P734 | Serping1 | Plasma protease C1 inhibitor | Rattus norvegicus (Rat) | PR |
| P05545 | Serpina3k | Serine protease inhibitor A3K | Rattus norvegicus (Rat) | PR |
| P07092 | Serpine2 | Glia-derived nexin | Rattus norvegicus (Rat) | PR |
| Q62975 | Serpina10 | Protein Z-dependent protease inhibitor | Rattus norvegicus (Rat) | PR |
| O48706 | At2g26390 | Serpin-Z3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1T7 | At3g45220 | Serpin-Z4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQR6 | At2g14540 | Serpin-Z2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKVVPSLLLS | VLLAQVWLVP | GLAPSPQSPE | TPAPQNQTSR | VVQAPKEEEE | DEQEASEEKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SEEEKAWLMA | SRQQLAKETS | NFGFSLLRKI | SMRHDGNMVF | SPFGMSLAMT | GLMLGATGPT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ETQIKRGLHL | QALKPTKPGL | LPSLFKGLRE | TLSRNLELGL | TQGSFAFIHK | DFDVKETFFN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSKRYFDTEC | VPMNFRNASQ | AKRLMNHYIN | KETRGKIPKL | FDEINPETKL | ILVDYILFKG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KWLTPFDPVF | TEVDTFHLDK | YKTIKVPMMY | GAGKFASTFD | KNFRCHVLKL | PYQGNATMLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLMEKMGDHL | ALEDYLTTDL | VETWLRNMKT | RNMEVFFPKF | KLDQKYEMHE | LLRQMGIRRI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FSPFADLSEL | SATGRNLQVS | RVLQRTVIEV | DERGTEAVAG | ILSEITAYSM | PPVIKVDRPF |
| 430 | 440 | ||||
| HFMIYEETSG | MLLFLGRVVN | PTLL |