Q9UP65
PR
Gene name |
PLA2G4C |
Protein name |
Cytosolic phospholipase A2 gamma |
Names |
cPLA2-gamma, Cytosolic lysophospholipase, Cytosolic lysophospholipid O-acyltransferase, Phospholipase A2 group IVC |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8605 |
EC number |
3.1.1.4: Carboxylic ester hydrolases |
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 Q9UP65
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UP65-F1 | Predicted | AlphaFoldDB |
465 variants for Q9UP65
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA406641179 rs1600270236 |
3 | S>G | No |
ClinGen Ensembl |
|
|
CA9546189 rs771817069 |
3 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546188 rs745675566 |
5 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9546187 rs778610568 |
6 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277390473 CA406641137 |
8 | I>V | No |
ClinGen TOPMed |
|
|
rs1372212107 CA406641120 |
10 | P>R | No |
ClinGen TOPMed |
|
|
rs1158338030 CA406641116 |
11 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1158338030 CA406641114 |
11 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9546186 rs770533759 |
11 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1420521453 CA406641111 |
12 | L>F | No |
ClinGen gnomAD |
|
|
rs573048640 CA9546185 |
13 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9546184 rs777355950 |
14 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755686933 CA9546183 |
15 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1267913084 CA406641085 |
16 | E>K | No |
ClinGen gnomAD |
|
|
rs753212492 CA9546182 |
18 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199624418 CA9546178 |
20 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs11564522 VAR_018761 CA9546177 |
21 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9546175 rs375047845 |
22 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146093287 CA9546174 |
23 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377414088 CA9546173 |
23 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771954580 CA406641032 |
24 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297590655 CA406641022 |
26 | H>Y | No |
ClinGen gnomAD |
|
|
rs774085087 CA309230634 |
32 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773027596 CA9546167 |
36 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546168 rs748878781 |
36 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9546166 VAR_018420 rs2307279 |
38 | A>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9546165 rs747708935 |
39 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA406640929 rs747385637 |
40 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs755502897 CA9546163 |
40 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1466293499 CA406640915 |
41 | A>T | No |
ClinGen TOPMed |
|
|
CA406640905 rs1244341475 |
42 | P>L | No |
ClinGen gnomAD |
|
|
CA9546138 rs757545381 |
43 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316463440 CA406640888 |
45 | A>V | No |
ClinGen gnomAD |
|
|
CA9546136 rs764009432 |
46 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9546135 rs756244961 |
47 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375831350 CA406640881 |
47 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766385698 CA9546134 |
48 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs766385698 CA9546133 |
48 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775130071 CA9546130 |
51 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761499327 CA9546128 |
53 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309230295 rs978253206 |
53 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406640847 rs768011771 |
54 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546126 rs768011771 |
54 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776350761 CA9546127 |
54 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406640836 rs1174688580 |
56 | H>P | No |
ClinGen TOPMed |
|
|
rs760255791 CA9546125 |
56 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772609298 CA9546123 |
61 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs144670307 CA9546121 |
62 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376584237 CA9546119 |
66 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771530426 CA309230234 |
68 | E>Q | No |
ClinGen Ensembl |
|
|
rs778075391 CA9546118 |
69 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309230230 rs778075391 |
69 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309230227 rs866564148 |
70 | G>A | No |
ClinGen Ensembl |
|
|
CA9546115 rs779850424 |
73 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312913509 CA406640724 |
73 | D>G | No |
ClinGen TOPMed |
|
|
CA309230223 rs749857647 |
74 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9546113 rs149438480 |
75 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406640716 rs149438480 |
75 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181055047 CA9546111 |
76 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406640708 rs181055047 |
76 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1159467616 CA406640705 |
77 | Y>H | No |
ClinGen gnomAD |
|
|
rs138956741 CA406640691 |
79 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138956741 CA9546107 |
79 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406640688 rs1415741660 |
79 | A>V | No |
ClinGen TOPMed |
|
|
CA9546106 rs772558070 |
80 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1166313091 CA406640680 |
81 | V>I | No |
ClinGen TOPMed |
|
|
rs374191136 CA406640666 |
83 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374191136 CA9546105 |
83 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9546104 rs774866157 |
84 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA309230205 rs781288697 |
85 | T>I | No |
ClinGen Ensembl |
|
|
CA309230207 rs932624941 |
85 | T>P | No |
ClinGen Ensembl |
|
|
rs1488049990 CA406640654 |
86 | W>R | No |
ClinGen gnomAD |
|
|
CA9546086 rs766909695 |
87 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406640625 rs1271636452 |
88 | I>M | No |
ClinGen gnomAD |
|
|
rs773683002 CA9546084 |
88 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9546085 rs376111893 |
88 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1050414074 CA309227959 |
92 | Y>C | No |
ClinGen TOPMed |
|
|
rs1445335776 CA406640598 |
93 | T>P | No |
ClinGen gnomAD |
|
|
rs1357795562 CA406640592 |
94 | N>D | No |
ClinGen gnomAD |
|
|
CA9546083 rs770066052 |
94 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931960916 CA309227956 |
96 | G>V | No |
ClinGen gnomAD |
|
|
rs147316960 CA9546082 |
97 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1053841895 CA309227940 |
98 | M>V | No |
ClinGen TOPMed |
|
|
rs1409495851 CA406640557 |
99 | E>Q | No |
ClinGen gnomAD |
|
|
rs1471894560 CA406640536 |
102 | E>* | No |
ClinGen gnomAD |
|
|
rs1471894560 CA406640538 |
102 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374427735 CA9546079 |
104 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9546077 rs778964888 |
105 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406640496 rs1256121289 |
108 | R>* | No |
ClinGen gnomAD |
|
|
rs757288712 COSM3422969 CA9546076 |
108 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1380202861 CA406640482 |
110 | T>N | No |
ClinGen gnomAD |
|
|
rs143994362 CA9546075 |
111 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9546074 rs189497922 |
111 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1451640242 CA406640468 |
113 | E>K | No |
ClinGen TOPMed |
|
|
CA406640456 rs1568451759 |
114 | W>* | No |
ClinGen Ensembl |
|
|
CA309227923 rs201445769 |
117 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 117 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9546072 rs563781834 |
119 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1384173865 CA406640401 |
122 | K>* | No |
ClinGen TOPMed |
|
|
rs543588381 CA309227920 |
124 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406640381 rs1442100406 |
125 | Q>* | No |
ClinGen gnomAD |
|
|
rs574891473 CA9546070 |
126 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs11564532 VAR_018762 CA9546069 |
127 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9546068 rs145903320 |
128 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA406640360 rs1403836362 |
128 | R>S | No |
ClinGen gnomAD |
|
|
CA9546067 rs763457736 |
130 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200424171 CA9546066 |
133 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769048180 CA9546062 |
136 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9546061 rs747069902 |
137 | F>C | No |
ClinGen ExAC |
|
|
CA9546060 rs775775953 |
137 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA309227887 rs1015214920 |
137 | F>L | No |
ClinGen TOPMed |
|
|
CA406640297 rs1218684491 |
138 | W>L | No |
ClinGen gnomAD |
|
|
rs1420561713 CA406640288 |
139 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1292107249 CA406640273 |
141 | M>I | No |
ClinGen gnomAD |
|
|
CA9546058 rs11564534 VAR_018763 |
142 | V>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9546055 rs377523072 |
143 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_018421 CA9546056 rs2303744 |
143 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374005017 CA9546053 |
145 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374005017 CA9546054 |
145 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406640242 rs1300392809 |
146 | Q>H | No |
ClinGen gnomAD |
|
|
rs1305025105 CA406640236 |
147 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9546052 VAR_018764 rs2307282 |
148 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406640224 rs1304040313 |
149 | E>G | No |
ClinGen gnomAD |
|
|
rs1365028895 CA406640228 |
149 | E>K | No |
ClinGen gnomAD |
|
|
rs11564538 VAR_018765 CA9546032 |
151 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374851590 CA9546030 |
152 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600245710 CA406640191 |
153 | S>A | No |
ClinGen Ensembl |
|
|
rs1042570765 CA309227465 |
154 | H>R | No |
ClinGen Ensembl |
|
|
rs779460960 CA9546029 |
156 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1170634893 CA406640165 |
157 | N>D | No |
ClinGen TOPMed |
|
|
CA9546027 rs373122190 |
159 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000889828 CA9546026 rs115349574 |
161 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs189489992 CA406640128 |
162 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs189489992 CA9546024 |
162 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1469258178 CA406640095 |
167 | L>V | No |
ClinGen gnomAD |
|
|
CA309227444 rs1042586808 |
168 | P>L | No |
ClinGen TOPMed |
|
|
CA9546022 rs759651186 |
169 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA309227440 rs760575305 |
170 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1193469277 CA406640069 |
171 | I>R | No |
ClinGen gnomAD |
|
|
CA9546019 rs761681933 |
176 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776572962 CA9546018 |
177 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs201422811 CA309227439 |
177 | N>S | No |
ClinGen Ensembl |
|
|
rs1461133126 CA406640010 |
180 | Q>R | No |
ClinGen gnomAD |
|
|
rs146484159 CA9546014 |
181 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146484159 CA9546015 |
181 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309227431 rs146484159 |
181 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9546017 rs746846127 |
181 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9546016 rs746846127 |
181 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 183 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745376510 CA9546013 |
183 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9546012 rs778217558 |
184 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs756837211 CA9546011 |
185 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1250775666 CA406639984 |
185 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs962820765 CA309227414 |
186 | A>V | No |
ClinGen Ensembl |
|
|
CA309227411 rs1015873702 |
187 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406639964 rs1193852648 |
188 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA406639957 rs1600245223 |
189 | P>Q | No |
ClinGen Ensembl |
|
|
CA309226956 rs566570586 |
193 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9545986 rs781355766 |
194 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs984826833 CA309226954 |
194 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs755393129 CA9545985 |
197 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9545984 rs144332920 |
198 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406639886 rs1241088630 |
198 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9545982 rs150358598 |
200 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9545980 rs764012236 |
202 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA406639859 rs1399385904 |
202 | F>S | No |
ClinGen gnomAD |
|
|
rs156631 CA406639855 |
203 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775508782 CA9545978 |
203 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_018422 CA9545979 rs156631 |
203 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406639854 rs156631 |
203 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309226949 rs865898421 |
204 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370426526 CA309226948 |
205 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9545977 rs370426526 |
205 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568447936 CA406639834 |
207 | A>G | No |
ClinGen Ensembl |
|
|
CA9545976 rs368409006 |
207 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1213907276 CA406639802 |
212 | T>N | No |
ClinGen gnomAD |
|
|
rs1213907276 CA406639801 |
212 | T>S | No |
ClinGen gnomAD |
|
|
rs148704566 CA9545972 |
213 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9545970 rs147338051 |
214 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748557112 CA9545969 |
215 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 217 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406639752 rs1212376159 |
219 | K>R | No |
ClinGen TOPMed |
|
|
CA309226943 rs904826782 |
221 | G>R | No |
ClinGen TOPMed |
|
|
CA406639725 rs1452797467 |
223 | L>P | No |
ClinGen gnomAD |
|
|
CA406639727 rs1452797467 |
223 | L>R | No |
ClinGen gnomAD |
|
|
CA9545967 rs768872184 |
223 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1346814799 CA406639724 |
224 | V>I | No |
ClinGen gnomAD |
|
|
VAR_018766 rs11564541 CA9545966 |
226 | T>S | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780240065 CA9545965 |
227 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545964 rs758685516 |
229 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406639659 rs1600238344 |
234 | F>L | No |
ClinGen Ensembl |
|
|
rs780327926 CA9545948 |
239 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA9545947 rs772437983 |
240 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309265819 rs948185468 |
241 | S>T | No |
ClinGen Ensembl |
|
|
CA9545946 rs746038150 |
242 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406639572 rs571131489 |
245 | N>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9545945 rs779224882 |
246 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA309265806 rs753996222 |
248 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753996222 CA9545943 |
248 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545942 rs140118627 |
249 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9545941 rs140118627 |
249 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406639546 rs1170687138 |
250 | R>K | No |
ClinGen gnomAD |
|
|
CA406639539 rs1442620248 |
251 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 252 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406639514 rs1484171103 |
254 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1223704471 CA406639489 |
256 | Q>K | No |
ClinGen gnomAD |
|
|
rs1019409721 CA309265173 |
261 | T>I | No |
ClinGen TOPMed |
|
|
rs1428379179 CA406639434 |
264 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778711130 CA9545900 |
264 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778711130 CA406639422 |
264 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199509839 CA309263524 |
265 | L>* | No |
ClinGen TOPMed |
|
|
rs1177811184 CA406639412 |
266 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9545898 rs753489261 |
267 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755597179 CA9545896 |
270 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs755597179 CA9545897 |
270 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746201141 CA9545894 |
271 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9545895 rs752257655 |
271 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406639368 rs1469072705 |
273 | A>D | No |
ClinGen TOPMed |
|
|
CA406639354 rs1202314237 |
275 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9545893 rs759983029 |
276 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545892 rs774746653 |
277 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406639321 rs766728941 |
280 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs766728941 CA9545891 |
280 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA406639320 rs766728941 |
280 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA406639323 rs1305938642 |
280 | I>V | No |
ClinGen gnomAD |
|
|
rs763270939 CA9545890 |
281 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 281 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9545889 rs773462659 |
282 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9545871 rs754481101 |
283 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374952220 CA9545870 |
283 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 288 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763365423 CA9545868 |
289 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA406639257 rs763365423 |
289 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA406639250 rs1372833326 |
290 | S>N | No |
ClinGen gnomAD |
|
|
CA406639249 rs1372833326 |
290 | S>T | No |
ClinGen gnomAD |
|
|
rs750820091 CA406639230 |
293 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750820091 CA9545867 |
293 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765702825 CA9545866 |
295 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545865 rs762067726 |
296 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 296 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9545863 rs768815587 |
298 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545862 rs760707526 |
298 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309259842 rs760707526 |
298 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147503572 CA9545845 |
302 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764269383 CA406638984 |
303 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545843 rs764269383 |
303 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406638961 rs1600196558 |
305 | P>T | No |
ClinGen Ensembl |
|
|
CA406638933 rs760792068 |
307 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9545842 rs760792068 |
307 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775497235 CA9545841 |
308 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA406638880 rs1343092721 |
311 | T>S | No |
ClinGen gnomAD |
|
|
rs1436685032 CA406638854 |
313 | M>V | No |
ClinGen gnomAD |
|
|
CA9545837 rs747990436 |
315 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545836 rs747990436 |
315 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545835 rs3218742 |
316 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1166850708 CA406638768 |
318 | T>I | No |
ClinGen TOPMed |
|
|
rs1388597705 CA406638761 |
319 | R>T | No |
ClinGen gnomAD |
|
|
CA406638725 rs1568434339 |
322 | L>P | No |
ClinGen Ensembl |
|
|
rs746680002 CA9545833 |
324 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1427219675 CA406638706 |
325 | Q>* | No |
ClinGen gnomAD |
|
|
CA309258447 rs201753652 |
325 | Q>H | No |
ClinGen 1000Genomes |
|
|
rs757947302 CA9545831 |
326 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9545832 rs779375128 |
326 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1248262555 CA406638683 |
328 | P>H | No |
ClinGen gnomAD |
|
|
rs371214328 CA9545830 |
330 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 332 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289419831 CA406638656 |
332 | P>S | No |
ClinGen TOPMed |
|
|
CA9545828 COSM3723069 rs376850000 |
333 | E>K | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs754308262 CA9545827 |
336 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs755040091 CA9545805 |
337 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA309254218 rs879740469 |
339 | S>G | No |
ClinGen TOPMed |
|
|
CA406638089 rs879740469 |
339 | S>R | No |
ClinGen TOPMed |
|
|
rs766451509 CA9545803 |
341 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327118831 CA406638034 |
342 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA309254210 rs761682021 |
342 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545802 rs761682021 |
342 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429278572 CA406638020 |
343 | D>G | No |
ClinGen gnomAD |
|
|
CA309254205 rs987867184 |
343 | D>N | No |
ClinGen TOPMed |
|
|
rs1568430071 CA406638004 |
344 | F>S | No |
ClinGen Ensembl |
|
|
CA9545801 rs141930565 |
345 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1170198246 CA406637967 |
347 | K>* | No |
ClinGen gnomAD |
|
|
CA406637936 rs1442525578 |
349 | G>S | No |
ClinGen gnomAD |
|
|
CA406637923 rs1186856205 |
350 | I>L | No |
ClinGen TOPMed |
|
|
rs531073017 CA9545799 |
351 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771908409 CA9545797 |
352 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759109863 CA9545796 |
352 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406637811 rs1276305876 |
357 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9545795 rs773927516 |
357 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA406637809 rs1276305876 |
357 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9545793 rs137989760 |
358 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9545794 rs770575835 |
358 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406637784 rs1568429929 |
359 | T>A | No |
ClinGen Ensembl |
|
|
rs375640219 CA9545790 |
359 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141153587 CA9545787 |
360 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_018767 CA9545788 rs11564620 |
360 | T>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs11564620 CA406637770 |
360 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372576996 CA309254137 |
361 | H>Q | No |
ClinGen ESP TOPMed |
|
|
CA9545786 rs755127711 |
362 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751794781 CA9545785 |
363 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9545783 rs758502536 |
365 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1600181383 CA406637701 |
365 | Y>S | No |
ClinGen Ensembl |
|
|
CA9545782 rs764140431 |
367 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545780 rs760373194 |
368 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270045756 CA406637392 |
368 | G>V | No |
ClinGen gnomAD |
|
|
CA9545757 rs376433522 |
371 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751236206 CA9545758 |
371 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904785397 CA309250210 |
373 | K>N | No |
ClinGen Ensembl |
|
|
rs1370823902 CA406637336 |
375 | M>R | No |
ClinGen TOPMed |
|
|
rs762369420 CA9545755 |
376 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA406637315 rs759084365 |
378 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759084365 CA9545753 |
378 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772715053 CA9545754 |
378 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1600165739 CA406637303 |
380 | H>P | No |
ClinGen Ensembl |
|
|
CA9545752 rs762333736 |
380 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA309250198 rs969291863 |
382 | H>Q | No |
ClinGen TOPMed |
|
|
rs1465092504 CA406637281 |
384 | V>M | No |
ClinGen gnomAD |
|
|
CA9545751 rs777155746 |
386 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201127134 CA9545750 |
387 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233694818 CA406637260 |
387 | G>C | No |
ClinGen TOPMed |
|
|
rs772404728 CA9545747 |
389 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747421849 CA9545749 |
389 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545748 rs772404728 |
389 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406637246 rs1250422484 |
390 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9545745 rs778989138 |
391 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406637228 rs1482963439 |
392 | T>I | No |
ClinGen gnomAD |
|
|
rs1600165583 CA406637233 |
392 | T>P | No |
ClinGen Ensembl |
|
|
rs757303559 CA9545744 |
393 | P>L | No |
ClinGen ExAC |
|
|
CA406637225 rs1207610130 |
393 | P>S | No |
ClinGen TOPMed |
|
|
rs748076032 CA9545743 |
394 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9545742 rs781329921 |
396 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs138527123 CA9545740 |
397 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406637199 rs1490305890 |
398 | L>M | No |
ClinGen TOPMed |
|
|
rs1367335381 CA406637197 |
398 | L>P | No |
ClinGen gnomAD |
|
|
rs1248973080 CA406637190 |
399 | P>L | No |
ClinGen TOPMed |
|
|
CA9545739 rs148052871 |
399 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9545738 rs371687415 |
400 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406637185 rs371687415 |
400 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9545737 rs750067126 |
401 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545733 rs141101537 COSM3933107 |
402 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9545734 rs777098708 |
402 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775764134 CA9545731 |
404 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1186029400 CA406637162 |
405 | H>Y | No |
ClinGen gnomAD |
|
|
rs746049878 CA9545729 |
406 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774465808 CA9545728 |
407 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA309250088 rs975727025 |
408 | L>F | No |
ClinGen TOPMed |
|
|
rs368419894 CA9545727 |
408 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1482169497 CA406637139 |
409 | S>P | No |
ClinGen gnomAD |
|
|
CA9545726 COSM3422963 rs11564638 RCV000897385 VAR_018768 |
411 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754900613 CA9545723 |
413 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs545062328 CA9545722 |
415 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406637097 rs1314178829 |
415 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779849990 CA9545721 |
417 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs779849990 CA406637083 |
417 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA309250056 rs1017742377 |
417 | P>T | No |
ClinGen Ensembl |
|
|
CA9545720 CA9545719 rs750061156 |
418 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1430861880 CA406637080 |
418 | F>L | No |
ClinGen gnomAD |
|
|
rs985663937 CA309250035 |
419 | E>A | No |
ClinGen gnomAD |
|
|
rs1216767986 CA406636012 |
420 | T>A | No |
ClinGen gnomAD |
|
|
CA406635990 rs201093662 |
422 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35229843 CA9545657 |
422 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9545659 rs201093662 |
422 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1448819908 CA406635962 |
424 | T>A | No |
ClinGen gnomAD |
|
|
rs747852439 CA9545655 |
427 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409051417 CA406635845 |
428 | C>W | No |
ClinGen gnomAD |
|
|
rs184221309 CA9545653 |
429 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184221309 CA9545654 |
429 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9545652 rs145766964 |
429 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9545651 rs191276960 VAR_018423 |
430 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200386711 CA9545650 |
430 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1249235771 CA406635772 |
433 | I>T | No |
ClinGen gnomAD |
|
|
rs1230387786 CA406635757 |
434 | P>L | No |
ClinGen TOPMed |
|
|
rs765698760 CA9545648 |
438 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757359939 CA9545647 |
439 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9545646 rs370150895 |
440 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9545644 rs760847598 |
443 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs762883835 CA9545641 |
444 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9545642 rs766359592 |
444 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs376328598 CA9545640 |
445 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9545638 rs747714917 |
446 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs577528520 CA9545639 |
446 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776391226 CA406635607 |
447 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776391226 CA9545637 |
447 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406635571 rs1203902614 |
449 | A>V | No |
ClinGen TOPMed |
|
|
rs1462571705 CA406635563 |
450 | P>H | No |
ClinGen gnomAD |
|
|
CA9545636 rs768032279 |
450 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780585013 CA406635551 |
451 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780585013 CA9545633 |
451 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406635514 rs1472686027 |
454 | Y>N | No |
ClinGen gnomAD |
|
|
CA9545631 rs149797455 |
455 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309241267 rs930753761 |
457 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 458 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309241248 rs971942076 |
460 | T>I | No |
ClinGen Ensembl |
|
|
rs746388895 CA9545630 |
462 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600147785 CA406635403 |
462 | P>S | No |
ClinGen Ensembl |
|
|
rs1174090133 CA406635386 |
463 | V>G | No |
ClinGen TOPMed |
|
|
rs1246699381 CA406635393 |
463 | V>L | No |
ClinGen gnomAD |
|
|
rs1246699381 CA406635394 |
463 | V>M | No |
ClinGen gnomAD |
|
|
rs1045367 CA9545627 |
465 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469884481 CA406635367 |
465 | M>T | No |
ClinGen gnomAD |
|
|
CA406635315 rs2307280 |
469 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373882422 CA9545623 |
471 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9545620 rs756169143 |
472 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750392739 CA9545621 |
472 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385831292 CA406635253 |
473 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA309241217 rs898215006 |
473 | D>V | No |
ClinGen TOPMed |
|
|
rs771673375 CA9545597 |
478 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309239604 rs974274765 |
479 | I>T | No |
ClinGen Ensembl |
|
|
rs771533943 CA9545594 |
480 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9545593 rs527845444 |
481 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 481 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273847514 CA406634437 |
486 | Y>C | No |
ClinGen gnomAD |
|
|
CA9545591 rs770088152 |
486 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9545589 rs781443003 |
487 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309239565 rs779220637 |
489 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 492 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406634381 rs1309903668 |
493 | D>A | No |
ClinGen gnomAD |
|
|
CA406634357 rs1204639286 |
496 | T>I | No |
ClinGen TOPMed |
|
|
CA9545587 rs747162308 |
499 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199937347 CA9545586 |
500 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757163923 CA9545585 |
501 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs200630540 CA9545583 |
504 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1162817293 CA406634295 |
507 | A>D | No |
ClinGen gnomAD |
|
|
rs1190040151 CA406634288 |
508 | K>R | No |
ClinGen TOPMed |
|
|
rs1190259789 CA406634278 |
509 | K>N | No |
ClinGen gnomAD |
|
|
rs759111805 CA9545579 |
509 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA406634275 rs1481954122 |
510 | N>Y | No |
ClinGen gnomAD |
|
|
CA9545578 rs773842643 |
511 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1250751163 CA406634267 |
511 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9545577 rs765830693 |
514 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA406634243 rs1265331611 |
514 | N>K | No |
ClinGen gnomAD |
|
|
CA406634246 rs1263581192 |
514 | N>S | No |
ClinGen gnomAD |
|
|
CA9545575 rs773633419 |
518 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 518 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139245684 CA309239469 |
519 | L>F | No |
ClinGen gnomAD |
|
|
rs770122639 CA9545573 |
520 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406634204 rs1328659824 |
520 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201887513 CA9545571 |
521 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9545569 rs375044049 |
525 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780130778 CA9545568 |
526 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9545566 rs371948216 |
527 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9545544 rs754862194 |
529 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200355211 CA9545545 |
529 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751202291 CA9545543 |
531 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774267370 CA309237068 |
531 | P>S | No |
ClinGen Ensembl |
|
|
CA406633870 rs1275547749 |
532 | K>E | No |
ClinGen TOPMed |
|
|
CA9545541 rs757925028 |
532 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9545540 rs749840851 |
533 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9545539 rs140212178 |
533 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406633855 rs1233978098 |
534 | S>N | No |
ClinGen gnomAD |
|
|
CA406633848 rs1372420855 |
535 | A>S | No |
ClinGen gnomAD |
|
|
CA9545538 rs149418455 |
536 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114852075 CA9545537 COSM3422961 |
536 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA406633829 rs1325874183 |
538 | C>F | No |
ClinGen gnomAD |
|
|
CA309237048 rs201919726 |
538 | C>R | No |
ClinGen TOPMed |
|
|
CA406633831 rs1325874183 |
538 | C>Y | No |
ClinGen gnomAD |
|
|
CA9545536 rs756421266 |
541 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9545535 rs760990058 |
542 | A>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UP65
1 regional properties for Q9UP65
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Lysophospholipase, catalytic domain | 1 - 541 | IPR002642 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.1.4 | Carboxylic ester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipase A2 activity | Catalysis of the reaction: phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate. This reaction requires Ca2+. |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| calcium-independent phospholipase A2 activity | Catalysis of the reaction: phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate. This reaction does not require Ca2+. |
| lysophospholipase activity | Catalysis of the reaction: 2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate. |
| O-acyltransferase activity | Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. |
| phosphatidyl phospholipase B activity | Catalysis of the reaction: 2 H2O + a phosphatidylcholine = sn-glycero-3-phosphocholine + 2 H+ + 2 a carboxylate. |
| phospholipase A1 activity | Catalysis of the reaction: phosphatidylcholine + H2O = 2-acylglycerophosphocholine + a carboxylate. |
| phospholipase A2 activity | Catalysis of the reaction: a 1,2-diacyl-sn-glycero-3-phospholipid + H2O = 1-acyl-sn-glycero-3-phospholipid + a fatty acid. This reaction removes the fatty acid attached to the sn2-position. Substrates include phosphatidylcholine, phosphatidylethanolamine, choline plasmalogen and phosphatides. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| arachidonic acid metabolic process | The chemical reactions and pathways involving arachidonic acid, a straight chain fatty acid with 20 carbon atoms and four double bonds per molecule. Arachidonic acid is the all-Z-(5,8,11,14)-isomer. |
| glycerophospholipid catabolic process | The chemical reactions and pathways resulting in the breakdown of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| lipid droplet formation | A process that results in the assembly, arrangement of constituent parts of a lipid droplet. |
| parturition | The reproductive process in which the parent is separated from its offspring either by giving birth to live young or by laying eggs. |
| phosphatidylcholine acyl-chain remodeling | Remodeling the acyl chains of phosphatidylcholine, through sequential deacylation and re-acylation reactions, to generate phosphatidylcholine containing different types of fatty acid acyl chains. |
| phosphatidylethanolamine acyl-chain remodeling | Remodeling the acyl chains of phosphatidylethanolamine, through sequential deacylation and re-acylation reactions, to generate phosphatidylethanolamine containing different types of fatty acid acyl chains. |
| phospholipid metabolic process | The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| platelet activating factor biosynthetic process | The chemical reactions and pathways resulting in the formation of platelet activating factor, 1-O-alkyl-2-acetyl-sn-glycerol 3-phosphocholine, where alkyl = hexadecyl or octadecyl. Platelet activating factor is an inflammatory mediator released from a variety of cells in response to various stimuli. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSSEVSIIP | GLQKEEKAAV | ERRRLHVLKA | LKKLRIEADE | APVVAVLGSG | GGLRAHIACL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVLSEMKEQG | LLDAVTYLAG | VSGSTWAISS | LYTNDGDMEA | LEADLKHRFT | RQEWDLAKSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QKTIQAARSE | NYSLTDFWAY | MVISKQTREL | PESHLSNMKK | PVEEGTLPYP | IFAAIDNDLQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSWQEARAPE | TWFEFTPHHA | GFSALGAFVS | ITHFGSKFKK | GRLVRTHPER | DLTFLRGLWG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SALGNTEVIR | EYIFDQLRNL | TLKGLWRRAV | ANAKSIGHLI | FARLLRLQES | SQGEHPPPED |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EGGEPEHTWL | TEMLENWTRT | SLEKQEQPHE | DPERKGSLSN | LMDFVKKTGI | CASKWEWGTT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HNFLYKHGGI | RDKIMSSRKH | LHLVDAGLAI | NTPFPLVLPP | TREVHLILSF | DFSAGDPFET |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IRATTDYCRR | HKIPFPQVEE | AELDLWSKAP | ASCYILKGET | GPVVMHFPLF | NIDACGGDIE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AWSDTYDTFK | LADTYTLDVV | VLLLALAKKN | VRENKKKILR | ELMNVAGLYY | PKDSARSCCL |
| A |