Q8NF37
Gene name |
LPCAT1 (AYTL2, PFAAP3) |
Protein name |
Lysophosphatidylcholine acyltransferase 1 |
Names |
LPC acyltransferase 1, LPCAT-1, LysoPC acyltransferase 1, 1-acylglycerol-3-phosphate O-acyltransferase, 1-acylglycerophosphocholine O-acyltransferase, 1-alkenylglycerophosphocholine O-acyltransferase, 1-alkylglycerophosphocholine O-acetyltransferase, Acetyl-CoA:lyso-platelet-activating factor acetyltransferase, Acetyl-CoA:lyso-PAF acetyltransferase, Lyso-PAF acetyltransferase, LysoPAFAT, Acyltransferase-like 2, Phosphonoformate immuno-associated protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79888 |
EC number |
2.3.1.23: Transferring groups other than amino-acyl groups |
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 Q8NF37
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q8NF37-F1 | Predicted | AlphaFoldDB |
426 variants for Q8NF37
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA112985221 rs1053126084 |
8 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA359072995 rs1053126084 |
8 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA359072996 rs1579824516 |
8 | P>S | No |
ClinGen Ensembl |
|
rs1377092738 CA359072977 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA359072970 rs1450229397 |
11 | A>D | No |
ClinGen TOPMed |
|
rs1450229397 CA359072967 |
11 | A>V | No |
ClinGen TOPMed |
|
CA359072959 rs1282531275 |
12 | P>R | No |
ClinGen TOPMed |
|
CA112985214 rs979437124 |
13 | A>V | No |
ClinGen TOPMed |
|
CA112985210 rs948126928 |
18 | A>V | No |
ClinGen TOPMed |
|
rs916682617 CA112985208 |
21 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA359072850 rs1224765854 |
22 | R>W | No |
ClinGen gnomAD |
|
CA359072837 rs1490004527 |
23 | L>P | No |
ClinGen gnomAD |
|
CA359072821 rs1289721390 |
25 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA359072815 rs1341995231 |
26 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA359072813 rs1341995231 |
26 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1329019786 CA359072804 |
27 | P>R | No |
ClinGen gnomAD |
|
CA359072793 rs1249947367 |
28 | G>W | No |
ClinGen gnomAD |
|
CA359072756 rs1184734531 |
31 | P>L | No |
ClinGen TOPMed |
|
rs1439902604 CA359072743 |
32 | F>L | No |
ClinGen TOPMed |
|
CA359072728 rs1180169270 |
34 | H>R | No |
ClinGen TOPMed |
|
rs1216469134 CA359072700 |
37 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA112985200 rs991976777 |
37 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs960829164 CA112985189 |
39 | S>G | No |
ClinGen TOPMed |
|
CA359072543 rs1339396281 |
45 | Q>* | No |
ClinGen gnomAD |
|
rs780293144 CA3187206 |
46 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3187204 rs570991069 |
51 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs767638683 CA3187203 |
52 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359066568 rs1462088213 |
54 | F>I | No |
ClinGen gnomAD |
|
CA359066529 rs1440315285 |
55 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA3187198 rs776025222 |
55 | P>S | No |
ClinGen ExAC gnomAD |
|
COSM1619857 rs1307070775 CA359066480 |
57 | R>Q | liver Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA359066484 rs1352768085 |
57 | R>W | No |
ClinGen gnomAD |
|
rs747598435 CA3187193 |
59 | L>V | No |
ClinGen ExAC gnomAD |
|
rs768548139 CA3187191 |
62 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 63 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368855942 CA3187190 |
64 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA359066360 rs1319066169 CA359066362 |
65 | M>I | No |
ClinGen gnomAD |
|
rs150608796 CA359066346 |
67 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 69 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 69 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778992691 CA3187186 |
72 | A>T | No |
ClinGen ExAC TOPMed |
|
CA359066255 rs1445731870 |
73 | L>F | No |
ClinGen gnomAD |
|
CA3187184 rs753834210 |
75 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA359066225 rs1231859689 |
75 | A>V | No |
ClinGen TOPMed |
|
TCGA novel | 76 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs961668552 CA112970162 |
76 | S>T | No |
ClinGen TOPMed |
|
rs559046387 CA112970159 |
76 | S>Y | No |
ClinGen 1000Genomes |
|
CA3187181 rs753194354 |
79 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3187180 rs201810874 |
80 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA3187177 rs764774088 |
83 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1242623674 CA359066098 |
84 | P>T | No |
ClinGen gnomAD |
|
CA3187175 rs138116906 |
85 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138116906 CA3187174 |
85 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA359066047 rs1384897370 |
86 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs775402244 CA3187173 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
rs775402244 CA3187172 |
87 | P>T | No |
ClinGen ExAC gnomAD |
|
CA3187171 rs771913207 |
88 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs771913207 CA359066025 |
88 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414601281 CA359066007 |
89 | A>V | No |
ClinGen TOPMed |
|
CA359065997 rs1297631704 |
90 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs1297631704 CA359065994 |
90 | L>Q | No |
ClinGen TOPMed gnomAD |
|
CA359066001 rs1314117656 |
90 | L>V | No |
ClinGen TOPMed |
|
rs779237434 CA3187169 |
91 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA359064504 rs1327589466 |
96 | D>E | No |
ClinGen TOPMed |
|
rs1204600267 CA359064502 |
97 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs766937927 CA3187110 |
101 | A>V | No |
ClinGen ExAC gnomAD |
|
CA359064384 rs1312165729 |
102 | I>T | No |
ClinGen gnomAD |
|
TCGA novel | 103 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA359064374 rs1234155126 |
103 | M>V | No |
ClinGen TOPMed |
|
rs1337780098 CA359064324 |
105 | T>I | No |
ClinGen gnomAD |
|
CA3187106 rs140317722 |
109 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA359064231 rs1300573368 |
109 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 110 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs369052835 CA3187104 |
110 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3187102 rs776989506 |
111 | G>S | No |
ClinGen ExAC gnomAD |
|
CA3187100 rs747091378 |
113 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768676081 CA3187101 |
113 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs772669639 CA359064140 |
114 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772669639 CA3187098 |
114 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775903785 CA3187099 |
114 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs926337665 CA359064132 |
115 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs926337665 CA112966382 |
115 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1337223872 CA359064099 |
116 | A>V | No |
ClinGen Ensembl |
|
CA3187095 rs199809414 |
117 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs149039406 CA3187093 |
120 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3187094 rs747860604 |
120 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1047455382 CA112966376 |
124 | P>S | No |
ClinGen Ensembl |
|
rs28715640 CA3187092 |
125 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA359063919 rs1395059469 |
126 | E>A | No |
ClinGen gnomAD |
|
rs765765060 CA3187090 |
126 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs758431577 CA3187089 |
127 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA112966352 rs67276504 |
128 | A>G | No |
ClinGen Ensembl |
|
CA3187086 rs761687464 |
128 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM270942 rs764346932 CA3187084 |
131 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA3187082 rs775664260 |
132 | L>F | No |
ClinGen ExAC gnomAD |
|
rs746382072 COSM1064285 CA3187080 |
133 | A>V | Variant assessed as Somatic; 0.0 impact. liver pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs560716607 CA112966323 |
138 | Y>C | No |
ClinGen 1000Genomes |
|
rs369309184 CA3187076 |
139 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1354769326 CA359063721 |
142 | I>L | No |
ClinGen gnomAD |
|
CA3187073 rs376037728 |
143 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs913478692 CA112966306 |
145 | T>A | No |
ClinGen Ensembl |
|
CA359063699 rs370820131 |
145 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs370820131 CA112966304 |
145 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs750444468 CA3187071 |
147 | T>A | No |
ClinGen ExAC gnomAD |
|
CA359063666 rs1339369321 |
147 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs367806579 CA3187069 |
148 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 149 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs753699994 CA3187068 |
150 | S>F | No |
ClinGen ExAC gnomAD |
|
CA359063585 rs1376977307 |
152 | V>M | No |
ClinGen TOPMed |
|
CA3187066 rs760967986 |
156 | E>D | No |
ClinGen ExAC |
|
TCGA novel | 156 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752800082 CA3187065 |
158 | R>G | No |
ClinGen ExAC gnomAD |
|
CA3187062 rs374772443 |
161 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773646628 CA3187059 |
163 | W>C | No |
ClinGen ExAC gnomAD |
|
rs913250358 CA113022040 |
165 | T>I | No |
ClinGen Ensembl |
|
rs770282686 CA359084607 |
166 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs200423327 CA3187033 |
168 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA359084579 rs1579785587 |
170 | I>L | No |
ClinGen Ensembl |
|
CA359084572 rs755982495 |
171 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1256630 CA3187031 rs755982495 |
171 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs777562656 CA3187032 |
171 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
CA359084568 rs1306745878 |
172 | P>L | No |
ClinGen gnomAD |
|
TCGA novel | 174 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs926066773 CA113022004 |
175 | V>M | No |
ClinGen Ensembl |
|
CA359084536 rs1336260167 |
177 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA359084539 rs1560973042 |
177 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA3187029 rs138753883 |
180 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 181 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755213539 CA3187028 |
181 | D>N | No |
ClinGen ExAC gnomAD |
|
CA359084513 rs755213539 |
181 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA3187027 rs751721441 |
182 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1442061109 CA359084500 |
183 | R>C | No |
ClinGen gnomAD |
|
CA359084499 rs1308150369 |
183 | R>H | No |
ClinGen gnomAD |
|
rs1178374759 CA359084464 |
187 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1178374759 CA359084463 |
187 | V>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 187 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1237639226 CA359084443 |
189 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 189 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3187024 rs758403396 |
192 | R>K | No |
ClinGen ExAC gnomAD |
|
rs780038428 CA359084405 |
193 | R>P | No |
ClinGen gnomAD |
|
rs780038428 CA113021942 COSM1435461 |
193 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA3187023 rs546554770 |
193 | R>W | No |
ClinGen ExAC gnomAD |
|
CA359084399 rs765632248 |
194 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3187022 rs765632248 |
194 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3187021 rs147744743 COSM590623 |
194 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1390713034 CA359084385 |
195 | Q>L | No |
ClinGen TOPMed gnomAD |
|
rs777160832 CA3187020 |
197 | N>S | No |
ClinGen ExAC gnomAD |
|
rs759270315 CA3187018 |
198 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1446048728 CA359084322 |
200 | W>C | No |
ClinGen gnomAD |
|
CA359084107 rs1294918726 |
203 | I>M | No |
ClinGen gnomAD |
|
rs985296177 CA113020969 |
203 | I>V | No |
ClinGen Ensembl |
|
CA359084095 rs1220339034 |
204 | M>T | No |
ClinGen gnomAD |
|
TCGA novel | 207 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3186990 rs758572285 |
215 | T>I | No |
ClinGen ExAC gnomAD |
|
CA113020956 rs952545037 |
219 | T>I | No |
ClinGen Ensembl |
|
rs1335535148 CA359082423 |
223 | G>V | No |
ClinGen gnomAD |
|
rs753367940 CA3186959 |
224 | A>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 224 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3186957 rs760608812 |
225 | F>I | No |
ClinGen ExAC |
|
CA3186954 rs759350411 |
229 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3186952 rs370580216 |
230 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140048874 COSM1580118 CA3186950 |
231 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA359082329 rs1425727632 |
233 | P>H | No |
ClinGen gnomAD |
|
rs200841903 CA3186948 |
237 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1266051075 CA359082249 |
241 | K>* | No |
ClinGen TOPMed gnomAD |
|
CA359082236 rs1215084181 |
242 | L>V | No |
ClinGen gnomAD |
|
rs1457899085 CA359081414 |
243 | D>G | No |
ClinGen gnomAD |
|
rs1193508180 CA359081354 |
245 | I>V | No |
ClinGen gnomAD |
|
rs1235287188 CA359081181 |
251 | G>A | No |
ClinGen gnomAD |
|
rs773618902 CA3186915 |
252 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762830445 CA3186916 |
252 | P>S | No |
ClinGen ExAC gnomAD |
|
CA3186914 rs765468332 |
253 | G>R | No |
ClinGen ExAC gnomAD |
|
rs761901606 CA3186913 |
254 | A>V | No |
ClinGen ExAC gnomAD |
|
CA3186885 rs142364979 |
255 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148739098 CA113013779 |
255 | L>Q | No |
ClinGen ESP |
|
rs142364979 CA359080645 |
255 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs866086697 CA113013769 |
258 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA113013763 rs959292312 |
261 | T>M | No |
ClinGen Ensembl |
|
rs779671695 CA3186880 |
266 | H>L | No |
ClinGen ExAC gnomAD |
|
rs375249372 CA3186881 |
266 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142758587 CA3186878 |
269 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3186877 rs375427371 |
271 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 277 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 279 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs756339660 CA3186855 |
281 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 283 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3186853 rs767655718 |
284 | K>E | No |
ClinGen ExAC gnomAD |
|
CA359079963 rs1417361127 |
286 | N>H | No |
ClinGen gnomAD |
|
CA359079948 rs1453027865 |
287 | P>H | No |
ClinGen TOPMed gnomAD |
|
rs1435157664 CA359079943 |
288 | A>T | No |
ClinGen TOPMed |
|
CA3186850 rs199967384 |
288 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA3186845 rs775268624 |
292 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771755160 CA3186844 |
292 | S>R | No |
ClinGen ExAC gnomAD |
|
rs775268624 CA359079889 |
292 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359079880 rs1170481920 |
293 | N>S | No |
ClinGen TOPMed |
|
CA3186842 rs773868926 |
294 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3186841 rs770793471 |
295 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359079866 rs1220288606 |
295 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA359079856 rs1428476035 |
296 | R>* | No |
ClinGen Ensembl |
|
rs906599099 COSM162202 CA113011615 |
296 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA3186838 rs558517257 |
298 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA359079839 rs371623388 |
298 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
rs777545665 CA3186839 |
298 | M>T | No |
ClinGen ExAC gnomAD |
|
CA3186840 rs371623388 |
298 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
rs377695067 CA3186834 |
300 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs377695067 CA3186835 |
300 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368297052 CA3186814 |
301 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751015911 CA3186812 |
303 | G>D | No |
ClinGen ExAC gnomAD |
|
rs758491501 CA3186813 |
303 | G>R | No |
ClinGen ExAC |
|
rs757797347 CA3186810 |
305 | S>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 305 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764493318 CA3186808 |
306 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA3186807 rs749719146 |
308 | D>E | No |
ClinGen ExAC gnomAD |
|
rs184906742 CA3186806 |
309 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs202218033 CA3186805 |
310 | T>K | No |
ClinGen ExAC gnomAD |
|
rs202218033 CA3186804 |
310 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1487658112 CA359078435 |
310 | T>S | No |
ClinGen TOPMed |
|
rs370890349 CA113008128 |
312 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
TCGA novel | 313 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3186800 rs776426210 |
314 | C>G | No |
ClinGen ExAC gnomAD |
|
CA359078343 rs1488879883 |
315 | Q>H | No |
ClinGen gnomAD |
|
rs1373949233 CA359078254 |
319 | A>T | No |
ClinGen gnomAD |
|
rs1180481540 CA359078240 |
319 | A>V | No |
ClinGen TOPMed |
|
rs1440904522 CA359078211 |
321 | G>R | No |
ClinGen TOPMed |
|
rs141767236 CA3186798 |
322 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs545411507 CA3186795 |
324 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM1165331 rs377578537 CA3186794 |
324 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs377578537 CA359078151 |
324 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1213900585 CA359078146 |
325 | L>F | No |
ClinGen gnomAD |
|
CA359078139 rs1336379037 |
325 | L>P | No |
ClinGen gnomAD |
|
CA3186791 rs778062419 |
327 | A>D | No |
ClinGen ExAC gnomAD |
|
CA3186793 rs138573338 |
327 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
CA3186792 rs778062419 |
327 | A>V | No |
ClinGen ExAC gnomAD |
|
rs574853919 CA3186790 |
328 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA3186789 rs751223289 |
329 | T>A | No |
ClinGen ExAC gnomAD |
|
rs766027119 CA3186788 |
329 | T>I | No |
ClinGen ExAC gnomAD |
|
CA113008025 TCGA novel rs201107441 |
333 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
CA3186787 rs762475985 |
334 | F>L | No |
ClinGen ExAC gnomAD |
|
CA113008018 rs868865729 |
335 | A>V | No |
ClinGen Ensembl |
|
CA3186786 rs749959100 |
337 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201807269 CA113007990 |
338 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201807269 CA3186784 |
338 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1015784961 CA113007984 |
339 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1306985481 CA359077909 |
340 | G>D | No |
ClinGen TOPMed |
|
rs780303802 | 341 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs367944297 CA113007977 |
341 | L>F | No |
ClinGen ESP gnomAD |
|
CA3186782 rs763843755 |
342 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3186754 rs771187124 |
343 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376035513 CA113007498 |
345 | P>L | No |
ClinGen TOPMed |
|
rs376035513 CA113007500 |
345 | P>R | No |
ClinGen TOPMed |
|
CA359077762 rs1287716765 |
346 | E>Q | No |
ClinGen TOPMed |
|
CA3186752 rs773130273 |
349 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1402475964 CA359077716 |
349 | E>K | No |
ClinGen TOPMed |
|
CA113007485 rs893677656 |
351 | D>H | No |
ClinGen Ensembl |
|
rs1028949150 CA113007475 |
352 | L>M | No |
ClinGen TOPMed |
|
rs113609424 CA359077600 |
355 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3186750 rs199553328 |
356 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1176071642 CA359077235 |
357 | E>A | No |
ClinGen gnomAD |
|
rs1176071642 CA359077228 |
357 | E>G | No |
ClinGen gnomAD |
|
CA359077107 rs1394832147 |
362 | K>M | No |
ClinGen gnomAD |
|
CA113007448 rs371335596 |
364 | G>E | No |
ClinGen Ensembl |
|
TCGA novel | 366 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1171661362 CA359077022 |
367 | I>R | No |
ClinGen TOPMed gnomAD |
|
CA359077023 rs1171661362 |
367 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs1055043360 CA113007445 |
368 | G>D | No |
ClinGen Ensembl |
|
CA359077000 rs1470285595 |
368 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA3186747 rs745579397 |
369 | I>S | No |
ClinGen ExAC gnomAD |
|
CA3186746 rs778505363 |
370 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA113007384 rs866800585 |
373 | A>V | No |
ClinGen Ensembl |
|
rs148005551 CA359076872 |
374 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148005551 CA3186743 |
374 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs371978316 CA3186742 |
374 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1046075586 CA113007323 |
375 | S>C | No |
ClinGen Ensembl |
|
rs1224578151 CA359076832 |
376 | L>P | No |
ClinGen gnomAD |
|
rs752568981 CA3186741 |
377 | E>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 379 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs143470660 CA3186737 |
380 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3186736 rs763040673 |
382 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA3186735 rs773358299 |
385 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1409783773 CA359076631 |
386 | D>E | No |
ClinGen gnomAD |
|
CA359076638 rs1400944063 |
386 | D>N | No |
ClinGen gnomAD |
|
CA3186734 rs769696449 |
387 | M>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 389 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA359076134 rs762450253 |
391 | F>L | No |
ClinGen ExAC gnomAD |
|
CA113007232 rs141080202 |
392 | D>H | No |
ClinGen ESP |
|
CA113007233 rs141080202 |
392 | D>N | No |
ClinGen ESP |
|
CA3186731 rs769059153 |
393 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1233480344 CA359075602 |
394 | S>G | No |
ClinGen gnomAD |
|
CA3186698 rs750709106 |
395 | G>S | No |
ClinGen ExAC gnomAD |
|
CA113003034 rs769365707 |
396 | S>I | No |
ClinGen TOPMed gnomAD |
|
rs1350502986 CA359075560 |
397 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA3186694 rs753927160 |
398 | E>K | No |
ClinGen ExAC TOPMed |
|
rs147749305 CA3186693 |
402 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
CA359075509 rs1366324705 |
402 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs761234099 CA3186692 |
403 | E>* | No |
ClinGen ExAC gnomAD |
|
rs775958276 CA3186691 |
403 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359075495 rs775958276 |
403 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3186690 rs767971999 |
404 | C>S | No |
ClinGen ExAC gnomAD |
|
CA3186688 rs774740117 |
406 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1331073519 CA359075430 |
409 | S>F | No |
ClinGen TOPMed |
|
rs768278241 CA3186684 COSM1695355 |
410 | V>A | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA3186685 rs776289215 |
410 | V>I | No |
ClinGen ExAC gnomAD |
|
rs111307365 CA3186683 |
411 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV000144228 rs587776361 CA249827 |
412 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs141834134 CA3186681 |
413 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375661111 CA3186682 |
413 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
CA359075379 rs1278580055 |
414 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1311189443 CA359075371 |
415 | A>D | No |
ClinGen gnomAD |
|
CA3186678 rs180837307 |
416 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs369833504 CA359075364 |
416 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369833504 CA3186677 |
416 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA359075366 rs180837307 |
416 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1348053215 CA359075359 |
417 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 419 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA359075326 rs1156971663 |
420 | T>A | No |
ClinGen TOPMed |
|
rs781628867 CA113002848 |
420 | T>S | No |
ClinGen Ensembl |
|
CA359075270 rs1384331841 |
422 | Q>H | No |
ClinGen TOPMed |
|
rs1377078487 CA359075222 |
426 | K>E | No |
ClinGen gnomAD |
|
rs149822046 CA3186675 |
426 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3186652 rs766712143 CA3186651 |
427 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA112998117 rs35452723 |
427 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3186654 rs748135748 |
427 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3186653 rs35452723 |
427 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1425873873 CA359073639 |
429 | G>E | No |
ClinGen TOPMed |
|
rs942008585 CA112998088 |
429 | G>R | No |
ClinGen Ensembl |
|
rs1305453663 CA359073628 |
430 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA359073575 rs954777354 |
433 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA112998062 rs986179103 |
433 | D>N | No |
ClinGen Ensembl |
|
rs535425512 CA3186646 |
434 | G>C | No |
ClinGen ExAC gnomAD |
|
rs143106036 CA3186644 COSM3661578 |
434 | G>D | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA3186645 rs535425512 |
434 | G>S | No |
ClinGen ExAC gnomAD |
|
CA359073535 rs1328418465 |
436 | V>F | No |
ClinGen TOPMed |
|
rs1225430434 CA359072490 |
438 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA359072459 rs1339492979 |
439 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs955924676 CA112998026 |
440 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1044903820 CA112998040 |
440 | D>G | No |
ClinGen TOPMed |
|
CA359072374 rs1579751478 |
442 | S>F | No |
ClinGen Ensembl |
|
CA3186641 rs749109602 |
444 | I>F | No |
ClinGen ExAC gnomAD |
|
CA359072223 rs1264601328 |
447 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1263141946 CA359072214 |
448 | A>P | No |
ClinGen TOPMed |
|
CA359072196 rs1032005944 |
449 | L>V | No |
ClinGen gnomAD |
|
rs113155822 CA112997994 |
451 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA3186637 rs781199821 |
453 | E>K | No |
ClinGen ExAC gnomAD |
|
rs780580539 CA3186634 |
455 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1367219101 CA359072065 |
455 | T>I | No |
ClinGen TOPMed |
|
rs780580539 CA3186635 |
455 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3186631 rs765629260 |
456 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752381395 CA3186629 |
457 | T>A | No |
ClinGen ExAC gnomAD |
|
CA359072042 rs1306717256 |
457 | T>S | No |
ClinGen gnomAD |
|
CA3186623 CA359071956 rs543894552 |
460 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA112997894 rs376760316 |
460 | F>V | No |
ClinGen ESP gnomAD |
|
CA359071926 rs1383309700 |
461 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1454355406 CA359071911 |
461 | R>L | No |
ClinGen TOPMed |
|
rs769575480 CA3186622 |
462 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 463 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA359071875 rs1253937346 |
463 | I>V | No |
ClinGen gnomAD |
|
CA3186620 rs776889940 |
464 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768659423 CA3186619 |
465 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747144587 CA3186618 |
467 | E>D | No |
ClinGen ExAC gnomAD |
|
CA359071734 rs1368058605 |
468 | K>T | No |
ClinGen gnomAD |
|
rs1262000361 CA359071705 |
469 | G>R | No |
ClinGen TOPMed |
|
rs146280460 CA3186616 |
470 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3186615 rs758976923 |
470 | K>R | No |
ClinGen ExAC gnomAD |
|
rs779476967 CA3186614 |
471 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757618527 CA3186612 |
472 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA112997778 rs148686721 |
473 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
CA3186611 rs141884703 |
473 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3186610 rs767227485 |
474 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1271068661 CA359070449 |
475 | D>E | No |
ClinGen gnomAD |
|
CA3186583 rs375617054 |
476 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
CA3186582 rs761012101 |
477 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144081179 CA3186581 |
480 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144081179 CA359070320 |
480 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs919674807 CA112992651 |
481 | E>D | No |
ClinGen Ensembl |
|
rs774522469 CA3186578 |
482 | M>I | No |
ClinGen ExAC gnomAD |
|
rs759720072 CA3186579 |
482 | M>T | No |
ClinGen ExAC gnomAD |
|
CA3186580 rs138685440 |
482 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA359070246 rs1403499905 |
483 | Y>H | No |
ClinGen TOPMed gnomAD |
|
CA359070189 rs1168336545 |
485 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1168336545 CA359070200 |
485 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs749688837 CA3186576 |
485 | A>V | No |
ClinGen ExAC gnomAD |
|
rs772635191 CA359070143 |
486 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359070147 rs1246461658 |
486 | F>S | No |
ClinGen gnomAD |
|
CA3186574 rs770042906 |
488 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359070099 rs1248487431 |
489 | E>K | No |
ClinGen gnomAD |
|
rs559330897 CA112992627 |
490 | Y>F | No |
ClinGen 1000Genomes gnomAD |
|
CA359070033 rs1331476848 |
491 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs746713358 CA3186573 |
493 | P>L | No |
ClinGen ExAC gnomAD |
|
CA359069952 rs1340442862 |
495 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs1340442862 CA359069964 |
495 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA359069944 rs1416731706 |
495 | Q>R | No |
ClinGen TOPMed |
|
rs137984614 CA3186570 |
499 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1377761661 CA359069862 |
500 | S>C | No |
ClinGen TOPMed |
|
CA3186568 rs537723576 |
502 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1161855709 CA359069767 |
504 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA3186566 rs763995971 |
505 | S>L | No |
ClinGen ExAC gnomAD |
|
CA3186564 rs752496909 |
506 | P>L | No |
ClinGen ExAC gnomAD |
|
CA3186565 rs146947988 |
506 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM75265 CA359069686 rs1469632956 |
507 | A>V | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA3186562 rs142709570 |
508 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3186560 rs770913919 |
509 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3186559 rs763574216 |
510 | P>A | No |
ClinGen ExAC gnomAD |
|
CA3186557 rs368316464 |
510 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3186558 rs368316464 |
510 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA359069636 rs763574216 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
CA359069646 rs763574216 |
510 | P>T | No |
ClinGen ExAC gnomAD |
|
CA359069370 rs865822780 |
514 | C>F | No |
ClinGen gnomAD |
|
CA112992510 rs865822780 |
514 | C>Y | No |
ClinGen gnomAD |
|
rs529710476 CA3186554 |
516 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1479449868 CA359069306 |
518 | S>N | No |
ClinGen TOPMed |
|
CA359069295 rs1302920160 |
518 | S>R | No |
ClinGen gnomAD |
|
CA359069286 rs1217040611 |
519 | P>L | No |
ClinGen gnomAD |
|
rs112539594 CA3186552 |
522 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3186551 rs547466871 |
523 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA359069229 rs1224122346 |
524 | A>T | No |
ClinGen gnomAD |
|
rs756067328 CA3186548 |
525 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1174214239 CA359069210 |
526 | R>Q | No |
ClinGen gnomAD |
|
rs140641175 CA3186546 |
526 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs751718602 CA3186544 |
528 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1408735162 CA359069175 |
529 | V>F | No |
ClinGen gnomAD |
|
rs1184972718 CA359069168 |
530 | R>G | No |
ClinGen gnomAD |
|
CA3186543 rs766530725 |
530 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA112992418 rs766530725 |
530 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1184972718 CA359069170 |
530 | R>S | No |
ClinGen gnomAD |
|
CA359069137 rs566361131 |
533 | L>M | No |
ClinGen gnomAD |
|
CA3186542 rs762911281 |
534 | D>G | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8NF37
4 regional properties for Q8NF37
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | EF-hand domain | 379 - 414 | IPR002048-1 |
domain | EF-hand domain | 432 - 486 | IPR002048-2 |
domain | Phospholipid/glycerol acyltransferase | 114 - 239 | IPR002123 |
domain | Lysophosphatidylcholine acyltransferase LPCAT1-like | 103 - 314 | IPR045252 |
Functions
Description | ||
---|---|---|
EC Number | 2.3.1.23 | Transferring groups other than amino-acyl groups |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
9 GO annotations of cellular component
Name | Definition |
---|---|
azurophil granule membrane | The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
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. |
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. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
8 GO annotations of molecular function
Name | Definition |
---|---|
1-acylglycerol-3-phosphate O-acyltransferase activity | Catalysis of the reaction: acyl-CoA + 1-acyl-sn-glycerol-3-phosphate = CoA + 1,2-diacyl-sn-glycerol-3-phosphate. |
1-acylglycerophosphocholine O-acyltransferase activity | Catalysis of the reaction: 1-acyl-sn-glycero-3-phosphocholine + acyl-CoA = phosphatidylcholine + CoA. |
1-alkenylglycerophosphocholine O-acyltransferase activity | Catalysis of the reaction: 1-alkenylglycerophosphocholine + acyl-CoA = 1-alkenyl-2-acylglycerophosphocholine + CoA. |
1-alkylglycerophosphocholine O-acetyltransferase activity | Catalysis of the reaction: 1-alkyl-sn-glycero-3-phosphocholine + acetyl-CoA = 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + CoA. |
1-alkylglycerophosphocholine O-acyltransferase activity | Catalysis of the reaction: 1-alkyl-sn-glycero-3-phosphocholine + acyl-CoA = 1-alkyl-2-acyl-sn-glycero-3-phosphocholine + CoA. |
2-acylglycerol-3-phosphate O-acyltransferase activity | Catalysis of the reaction: 2-acyl-sn-glycerol 3-phosphate + acyl-CoA = L-phosphatidate + CoA. |
calcium ion binding | Binding to a calcium ion (Ca2+). |
plasmalogen synthase activity | Catalysis of the reaction: acyl-CoA + 1-O-alk-1-enyl-glycero-3-phosphocholine = CoA + plasmenylcholine. |
10 GO annotations of biological process
Name | Definition |
---|---|
negative regulation of phosphatidylcholine biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of phosphatidylcholine biosynthetic process. |
phosphatidic acid biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
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. |
phosphatidylcholine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
phosphatidylglycerol acyl-chain remodeling | Remodeling the acyl chains of phosphatidylglycerol, through sequential deacylation and re-acylation reactions, to generate phosphatidylglycerol containing different types of fatty acid acyl chains. |
phospholipid biosynthetic process | The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester. |
positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
retina development in camera-type eye | The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. |
surfactant homeostasis | Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli. |
13 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A3FPG8 | GPAT4 | Glycerol-3-phosphate acyltransferase 4 | Bos taurus (Bovine) | PR |
Q5ZLL8 | GPAT3 | Glycerol-3-phosphate acyltransferase 3 | Gallus gallus (Chicken) | PR |
Q86UL3 | GPAT4 | Glycerol-3-phosphate acyltransferase 4 | Homo sapiens (Human) | PR |
Q8C0N2 | Gpat3 | Glycerol-3-phosphate acyltransferase 3 | Mus musculus (Mouse) | PR |
Q8K2C8 | Gpat4 | Glycerol-3-phosphate acyltransferase 4 | Mus musculus (Mouse) | PR |
Q6NVG1 | Lpcat4 | Lysophospholipid acyltransferase LPCAT4 | Mus musculus (Mouse) | PR |
Q3TFD2 | Lpcat1 | Lysophosphatidylcholine acyltransferase 1 | Mus musculus (Mouse) | PR |
Q1HAQ0 | Lpcat1 | Lysophosphatidylcholine acyltransferase 1 | Rattus norvegicus (Rat) | PR |
Q8L7R3 | LPEAT1 | Lysophospholipid acyltransferase LPEAT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
A3KGT9 | agpat9l | Glycerol-3-phosphate acyltransferase 3-like | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
Q6PBN5 | aup1 | Lipid droplet-regulating VLDL assembly factor AUP1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
Q1LWG4 | lpcat1 | Lysophosphatidylcholine acyltransferase 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MRLRGCGPRA | APASSAGASD | ARLLAPPGRN | PFVHELRLSA | LQKAQVALMT | LTLFPVRLLV |
70 | 80 | 90 | 100 | 110 | 120 |
AAAMMLLAWP | LALVASLGSA | EKEPEQPPAL | WRKVVDFLLK | AIMRTMWFAG | GFHRVAVKGR |
130 | 140 | 150 | 160 | 170 | 180 |
QALPTEAAIL | TLAPHSSYFD | AIPVTMTMSS | IVMKAESRDI | PIWGTLIQYI | RPVFVSRSDQ |
190 | 200 | 210 | 220 | 230 | 240 |
DSRRKTVEEI | KRRAQSNGKW | PQIMIFPEGT | CTNRTCLITF | KPGAFIPGAP | VQPVVLRYPN |
250 | 260 | 270 | 280 | 290 | 300 |
KLDTITWTWQ | GPGALEILWL | TLCQFHNQVE | IEFLPVYSPS | EEEKRNPALY | ASNVRRVMAE |
310 | 320 | 330 | 340 | 350 | 360 |
ALGVSVTDYT | FEDCQLALAE | GQLRLPADTC | LLEFARLVRG | LGLKPEKLEK | DLDRYSERAR |
370 | 380 | 390 | 400 | 410 | 420 |
MKGGEKIGIA | EFAASLEVPV | SDLLEDMFSL | FDESGSGEVD | LRECVVALSV | VCRPARTLDT |
430 | 440 | 450 | 460 | 470 | 480 |
IQLAFKMYGA | QEDGSVGEGD | LSCILKTALG | VAELTVTDLF | RAIDQEEKGK | ITFADFHRFA |
490 | 500 | 510 | 520 | 530 | |
EMYPAFAEEY | LYPDQTHFES | CAETSPAPIP | NGFCADFSPE | NSDAGRKPVR | KKLD |