Q6ZNC8
PR
Gene name |
MBOAT1 |
Protein name |
Lysophospholipid acyltransferase 1 |
Names |
LPLAT 1, 1-acylglycerophosphocholine O-acyltransferase, 1-acylglycerophosphoethanolamine O-acyltransferase, 1-acylglycerophosphoserine O-acyltransferase MBOAT1, Lysophosphatidylserine acyltransferase, LPSAT, Lyso-PS acyltransferase, Membrane-bound O-acyltransferase domain-containing protein 1, O-acyltransferase domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:154141 |
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 Q6ZNC8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZNC8-F1 | Predicted | AlphaFoldDB |
447 variants for Q6ZNC8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1274824734 CA363262329 |
2 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1274824734 CA363262330 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1581475289 CA363262308 |
5 | P>S | No |
ClinGen Ensembl |
|
|
CA3652607 rs371445484 |
7 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA135655147 rs371445484 |
7 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749257749 CA3652608 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1468084211 CA363262292 |
8 | S>P | No |
ClinGen gnomAD |
|
|
rs370967078 CA135655146 |
8 | S>Y | No |
ClinGen Ensembl |
|
|
CA135655145 rs1054548180 |
9 | S>G | No |
ClinGen TOPMed |
|
|
rs935726402 CA135655144 |
9 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1054548180 CA363262288 |
9 | S>R | No |
ClinGen TOPMed |
|
|
CA363262277 rs1292948224 |
10 | L>R | No |
ClinGen TOPMed |
|
|
CA3652606 rs369038811 |
13 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652605 rs369038811 |
13 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394303055 CA363262257 |
14 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1476356021 CA363262245 |
15 | T>M | No |
ClinGen gnomAD |
|
|
CA135655143 rs948843888 |
16 | G>S | No |
ClinGen Ensembl |
|
|
rs780891180 CA3652603 |
18 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs61737148 CA3652602 |
19 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3652601 rs751012415 |
21 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA363262203 rs1342103036 |
22 | P>L | No |
ClinGen gnomAD |
|
|
rs1411799153 CA363262198 |
23 | L>P | No |
ClinGen TOPMed |
|
|
rs1382861112 CA363262178 |
26 | L>F | No |
ClinGen gnomAD |
|
|
rs568625438 CA3652595 |
30 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767840856 CA363262151 |
31 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3652591 rs200213957 |
33 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362949021 rs1271670340 |
34 | V>L | No |
ClinGen gnomAD |
|
|
CA362949006 rs1209432947 |
35 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362948991 rs1218832780 |
36 | F>S | No |
ClinGen gnomAD |
|
|
CA362948980 rs1254503068 |
37 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3652570 rs370291412 |
42 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652568 rs759394149 |
43 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759394149 CA3652569 |
43 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776368594 CA362948890 |
44 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652566 rs770733736 |
45 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs746854350 CA3652565 |
46 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3652563 rs771688941 |
47 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA135003822 rs777374410 |
47 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652564 rs777374410 |
47 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652562 rs747682740 |
48 | F>L | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA362948808 rs1419167749 |
49 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs184491612 CA135003773 |
51 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3652560 rs184491612 |
51 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756580004 CA362948787 COSM1487500 |
51 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3652559 rs756580004 |
51 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs184491612 CA135003793 |
51 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3652558 rs140372115 |
54 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150206972 CA362948732 |
55 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3652557 rs150206972 |
55 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757678573 CA3652555 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA362948703 rs1463281334 |
57 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3652554 rs752033251 |
58 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1162601911 CA362948685 |
59 | T>A | No |
ClinGen gnomAD |
|
|
rs1374619224 CA362948678 |
59 | T>I | No |
ClinGen TOPMed |
|
|
CA3652552 rs763095613 |
62 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs376945347 CA3652553 |
62 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362948621 rs1274188247 |
63 | V>D | No |
ClinGen TOPMed |
|
|
rs752753742 CA3652550 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765262767 CA3652549 |
65 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA362948606 rs1417464374 |
65 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA135003700 rs867374033 |
66 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA135003664 rs1039580580 |
68 | A>T | No |
ClinGen Ensembl |
|
|
CA3652546 rs370440332 |
71 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760459502 CA3652544 |
72 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs773049692 CA3652543 |
74 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652541 rs747763497 |
75 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3652540 rs773875128 |
77 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173879120 CA362948425 |
78 | F>L | No |
ClinGen TOPMed |
|
|
CA3652539 rs768076958 |
79 | C>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1442433 rs1209090738 CA362948371 |
81 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3652537 rs781762385 |
81 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA135003572 rs866459504 |
82 | W>R | No |
ClinGen Ensembl |
|
|
rs775149905 CA135002173 |
83 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA362947536 rs1395851152 |
85 | V>M | No |
ClinGen gnomAD |
|
|
CA135002151 rs1041254000 |
86 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA362947493 rs771495634 |
87 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771495634 CA3652514 |
87 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362947468 rs1408541073 |
88 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303291377 CA362947419 |
91 | V>G | No |
ClinGen gnomAD |
|
|
rs1389724777 COSM1329191 CA362947396 |
93 | M>I | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA362947372 rs1309478809 |
94 | C>* | No |
ClinGen TOPMed |
|
|
rs778148843 CA3652512 |
94 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758666550 CA3652511 |
95 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143010805 CA3652510 |
97 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1419247309 CA362947290 |
99 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362947269 rs149062726 |
100 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652509 rs149062726 |
100 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269503602 CA362947238 |
102 | S>N | No |
ClinGen gnomAD |
|
|
CA362947250 rs1482697214 |
102 | S>R | No |
ClinGen gnomAD |
|
|
rs201359972 CA135002131 |
103 | V>I | No |
ClinGen Ensembl |
|
|
rs201359972 CA362947223 |
103 | V>L | No |
ClinGen Ensembl |
|
|
rs1256504547 CA362947196 |
105 | N>D | No |
ClinGen TOPMed |
|
|
CA362947188 rs1480054135 |
105 | N>S | No |
ClinGen TOPMed |
|
|
rs753858040 CA3652507 |
107 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1239425674 CA362947105 |
108 | R>K | No |
ClinGen TOPMed |
|
|
CA3652487 rs749532284 |
108 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3652485 rs200148384 |
111 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750560677 TCGA novel CA3652484 |
112 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
| rs763568427 | 113 | V>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144967660 CA3652481 |
115 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362946425 rs1367003652 |
115 | M>T | No |
ClinGen gnomAD |
|
|
rs548640963 CA3652482 |
115 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456555119 CA362946420 |
116 | G>R | No |
ClinGen gnomAD |
|
|
rs1406573245 CA362946385 |
121 | C>Y | No |
ClinGen gnomAD |
|
|
CA362946378 rs1174071847 |
122 | H>Y | No |
ClinGen gnomAD |
|
|
CA3652480 rs751258056 |
123 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA362946357 rs1376985636 |
125 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs374349337 CA3652479 |
125 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3652478 COSM3941659 rs762656025 |
126 | I>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA362946353 rs1454772008 |
126 | I>V | No |
ClinGen TOPMed |
|
|
rs1417720552 CA362946339 |
128 | I>L | No |
ClinGen TOPMed |
|
|
rs765032830 CA3652476 |
130 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652475 rs758956219 |
131 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA134997007 rs1010437047 |
131 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 132 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362946296 rs1354867969 |
134 | L>R | No |
ClinGen TOPMed |
|
|
rs776271479 CA3652474 |
135 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776271479 CA134996988 |
135 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3652473 rs201531329 |
136 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134996968 rs929369052 |
139 | S>P | No |
ClinGen TOPMed |
|
|
rs796831503 CA362946259 |
140 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362946260 rs796831503 |
140 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA134996967 rs796831503 |
140 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777899043 CA3652460 |
141 | P>L | No |
ClinGen ExAC |
|
|
CA135026857 rs752599081 |
143 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA3652458 rs752599081 |
143 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1018103953 CA135026854 |
147 | Q>R | No |
ClinGen TOPMed |
|
|
CA362929016 rs1368563841 |
148 | K>N | No |
ClinGen gnomAD |
|
|
CA362929007 rs1172331469 |
150 | T>A | No |
ClinGen gnomAD |
|
|
CA362929000 rs1363388605 |
151 | T>A | No |
ClinGen TOPMed |
|
|
CA362928998 rs368072391 |
151 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652457 rs368072391 |
151 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561755194 CA362928990 |
153 | A>T | No |
ClinGen Ensembl |
|
|
CA362928974 rs1414853488 |
155 | Q>* | No |
ClinGen gnomAD |
|
|
CA362928967 rs1165201234 |
156 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362928966 rs1165201234 |
156 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1471906009 CA362928958 |
157 | H>L | No |
ClinGen gnomAD |
|
|
rs754662446 CA3652452 |
157 | H>N | No |
ClinGen ExAC |
|
|
CA3652450 rs147717580 |
157 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652453 rs772347315 |
157 | H>T | No |
ClinGen ExAC |
|
| rs774806715 | 158 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3652448 rs774806715 |
158 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652426 rs765668536 |
161 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3652425 rs759860265 |
162 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA135026162 rs759860265 |
162 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652424 rs113970071 |
162 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652423 COSM3697697 rs113970071 |
162 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362928376 rs773430723 |
166 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3652422 rs747082133 |
166 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs747082133 CA135026156 |
166 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3652421 rs773430723 |
166 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868179432 CA135026151 |
167 | L>P | No |
ClinGen Ensembl |
|
|
rs1051604890 CA135026147 |
170 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 171 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377307115 CA135026144 |
171 | Q>K | No |
ClinGen ESP TOPMed |
|
|
CA3652420 rs561791011 |
172 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM282699 CA362928334 rs1158801085 |
173 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs748118293 CA3652419 |
173 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652418 rs778809523 |
175 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA135026131 rs746927625 |
176 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754770359 CA3652417 |
177 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581407095 CA362928178 |
180 | P>T | No |
ClinGen Ensembl |
|
|
CA362928154 rs1173117101 |
182 | F>L | No |
ClinGen gnomAD |
|
|
CA362928138 rs1581407090 |
183 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 184 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362928101 rs1230678873 |
185 | Y>C | No |
ClinGen gnomAD |
|
|
CA362928103 rs1230678873 |
185 | Y>S | No |
ClinGen gnomAD |
|
|
CA362928090 rs1234574120 |
186 | L>V | No |
ClinGen TOPMed |
|
|
CA135025528 rs949485047 |
188 | Y>C | No |
ClinGen Ensembl |
|
|
rs769392228 CA3652392 |
191 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362928012 rs769392228 |
191 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745554684 CA3652391 |
191 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751129981 CA3652388 |
193 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652389 rs751129981 |
193 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652387 rs779473065 |
195 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3652386 rs755445070 |
198 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs928507440 CA135025501 |
201 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs754174224 CA3652385 |
201 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA135025497 rs369720011 |
207 | I>V | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 208 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140142678 CA3652384 |
210 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760938963 CA3652383 |
211 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs750640635 CA3652381 |
215 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA362927661 rs1181006844 |
215 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3652380 rs767899963 |
217 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362927624 rs767899963 |
217 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362927604 rs1483078127 |
218 | K>Q | No |
ClinGen gnomAD |
|
|
rs201772661 CA3652378 |
219 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652377 rs768567155 |
220 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1312254590 CA362927559 |
220 | L>Q | No |
ClinGen TOPMed |
|
|
CA362927526 rs1202291059 |
222 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs567317695 CA3652376 |
226 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3652375 rs775318866 |
226 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233042948 CA362927431 |
228 | G>S | No |
ClinGen gnomAD |
|
|
rs769550567 CA3652374 |
228 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs745714146 CA3652373 |
230 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312795430 CA362927396 |
230 | H>Y | No |
ClinGen TOPMed |
|
|
CA362927348 rs1395181103 |
232 | L>F | No |
ClinGen gnomAD |
|
|
CA3652372 rs776255546 |
235 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562470402 CA135025467 |
235 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3652371 rs142255261 |
236 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652370 rs148711305 |
238 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362927261 rs148711305 |
238 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362926381 rs1173021345 |
239 | G>E | No |
ClinGen gnomAD |
|
|
CA3652349 rs771451606 |
239 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1344208726 CA362926376 |
240 | A>G | No |
ClinGen TOPMed |
|
|
rs1450387218 CA362926380 |
240 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529130496 CA3652347 |
242 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652346 rs780692058 |
243 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200985522 CA3652345 |
244 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200985522 CA3652344 |
244 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3652342 rs757448205 |
245 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781697474 CA3652343 |
245 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA362926310 rs1279014402 |
246 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751704017 CA3652341 |
250 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362926189 rs1226487959 |
253 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3652339 rs758397221 |
254 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs375314120 CA3652338 |
257 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3652336 rs759484677 |
259 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652334 rs766191963 |
261 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA135024903 rs757553334 |
262 | F>L | No |
ClinGen Ensembl |
|
|
CA3652333 rs760558188 |
263 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs149585818 CA3652332 |
264 | V>G | No |
ClinGen ESP ExAC |
|
|
CA362925996 rs1465140485 |
265 | T>I | No |
ClinGen TOPMed |
|
|
rs1475186747 CA362925975 |
266 | C>* | No |
ClinGen gnomAD |
|
|
CA3652329 rs774000416 |
269 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362925932 rs1369417834 |
269 | D>G | No |
ClinGen gnomAD |
|
|
rs953429530 CA135024887 |
273 | V>A | No |
ClinGen Ensembl |
|
|
rs770363147 CA3652328 |
273 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs138031972 CA135024883 |
275 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746395446 CA3652327 |
275 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3652325 rs771181798 |
276 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771181798 CA362925830 |
276 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362925804 rs1330235526 |
277 | S>G | No |
ClinGen TOPMed |
|
|
CA362925808 rs1330235526 |
277 | S>R | No |
ClinGen TOPMed |
|
|
rs1271800712 CA362925786 |
277 | S>R | No |
ClinGen gnomAD |
|
|
rs146228602 CA3652323 |
279 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146228602 CA3652324 |
279 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752717445 CA3652321 |
281 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652319 rs754871201 |
283 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs766387842 CA3652317 |
283 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs766387842 CA3652318 |
283 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1255836338 CA362925683 |
284 | Y>H | No |
ClinGen TOPMed |
|
|
rs1409626710 CA362925609 |
286 | Y>C | No |
ClinGen gnomAD |
|
|
CA3652314 rs767007684 |
286 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA362925594 rs1392669590 |
287 | V>I | No |
ClinGen gnomAD |
|
|
CA3652313 rs141870803 |
288 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362925536 rs1165434143 |
290 | Q>K | No |
ClinGen gnomAD |
|
|
rs530086889 CA3652312 |
292 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA135024840 rs776710418 |
293 | K>* | No |
ClinGen Ensembl |
|
|
rs1365177412 CA362925412 |
294 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3652310 rs762604768 |
296 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771537967 CA3652308 |
300 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362925182 rs1180448577 |
301 | T>I | No |
ClinGen gnomAD |
|
|
rs899436666 CA135024833 |
302 | L>S | No |
ClinGen Ensembl |
|
|
rs1015163283 CA135024831 |
303 | A>T | No |
ClinGen Ensembl |
|
|
CA362922305 rs1581401052 |
304 | D>N | No |
ClinGen Ensembl |
|
|
CA3652298 rs750124687 |
305 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767362676 CA362922228 |
306 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767362676 CA3652297 |
306 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761513718 CA3652296 |
307 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3652294 COSM1076409 rs763900458 |
309 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA135021870 rs1011488610 |
311 | G>D | No |
ClinGen TOPMed |
|
|
rs1561749110 CA362922066 |
313 | G>R | No |
ClinGen Ensembl |
|
|
CA3652292 COSM366600 rs775073292 |
313 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM3410828 rs150163538 CA3652291 |
315 | S>G | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs199705606 CA3652289 |
316 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM298732 CA3652288 rs199705606 |
316 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362921946 rs1334128740 |
318 | D>G | No |
ClinGen TOPMed |
|
|
CA3652287 rs577756244 |
319 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362921807 rs1211727801 |
323 | F>L | No |
ClinGen TOPMed |
|
|
rs774541134 CA362921778 |
324 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652286 rs774541134 |
324 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343999323 CA362921758 |
325 | W>G | No |
ClinGen gnomAD |
|
|
CA3652284 rs749297970 |
326 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553353326 CA3652283 |
329 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745846124 CA3652281 |
330 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3652280 rs750837889 |
333 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390400267 CA362921428 |
335 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362921375 rs147981127 |
336 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3652279 rs147981127 |
336 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362921349 rs763777279 |
337 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3652277 rs763777279 |
337 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA362919876 rs1185478776 |
339 | A>V | No |
ClinGen TOPMed |
|
|
CA3652259 rs758085207 |
340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752365418 CA3652258 |
341 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3652257 rs764849279 |
341 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291953976 CA362919810 |
342 | F>L | No |
ClinGen gnomAD |
|
|
CA362919805 rs1414655764 |
343 | K>Q | No |
ClinGen gnomAD |
|
|
CA135020456 rs201732897 |
343 | K>R | No |
ClinGen gnomAD |
|
|
rs201732897 CA135020466 |
343 | K>T | No |
ClinGen gnomAD |
|
|
rs529680072 CA3652256 |
344 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402238410 CA362919673 |
348 | N>D | No |
ClinGen TOPMed |
|
|
CA362919630 rs1460166012 |
349 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs541057161 CA3652255 |
353 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764569068 CA3652254 |
355 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652253 rs762320145 |
356 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs751868677 CA3652252 |
357 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs751868677 CA362919407 |
357 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1047510804 CA135020382 |
359 | C>R | No |
ClinGen TOPMed |
|
|
CA362918832 rs1368317517 |
360 | V>L | No |
ClinGen gnomAD |
|
|
CA135018946 rs369502248 |
361 | C>F | No |
ClinGen ESP TOPMed |
|
|
rs372171805 CA362918722 |
363 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372171805 CA3652226 |
363 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1026919837 CA135018940 |
363 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs143520373 CA3652222 |
364 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM182683 rs143520373 CA3652223 |
364 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3652224 rs773271078 |
364 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652220 rs369053446 |
365 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581396993 CA362918621 |
365 | V>G | No |
ClinGen Ensembl |
|
|
rs369053446 CA3652221 |
365 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 366 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779717995 CA3652218 |
367 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs755597178 CA3652217 |
370 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76495609 CA3652216 |
370 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753060458 CA3652213 |
371 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA362918347 rs1264249829 |
372 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3652210 rs199830796 |
373 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199830796 CA3652211 |
373 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293013468 CA362918286 |
374 | F>V | No |
ClinGen gnomAD |
|
|
rs760834607 CA3652208 |
375 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760834607 CA362918186 |
375 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201403519 CA3652204 CA3652205 |
381 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362917896 rs1375675677 |
382 | G>V | No |
ClinGen gnomAD |
|
|
CA362917890 rs1396183694 |
383 | V>I | No |
ClinGen TOPMed |
|
|
rs937217669 CA135018867 |
386 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362917760 rs937217669 |
386 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362917738 rs1328014064 |
387 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3652203 rs768299936 |
387 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1293098293 CA362917704 |
388 | Y>S | No |
ClinGen gnomAD |
|
|
rs200600972 CA3652202 |
389 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362917617 rs775107568 |
390 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775107568 CA3652201 |
390 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362917546 rs1436633755 |
392 | L>F | No |
ClinGen gnomAD |
|
|
CA362917530 rs1373657312 |
393 | T>S | No |
ClinGen gnomAD |
|
|
rs1410689154 CA362917510 |
394 | G>R | No |
ClinGen TOPMed |
|
|
rs769443478 CA3652200 |
394 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA362917450 rs1475824331 |
396 | L>P | No |
ClinGen gnomAD |
|
|
CA135018852 rs1056878184 |
397 | V>A | No |
ClinGen Ensembl |
|
|
rs1375154745 CA362917423 |
397 | V>L | No |
ClinGen gnomAD |
|
|
rs147720615 CA3652199 |
398 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652198 rs780594212 |
398 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145524376 CA135018845 |
399 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3652196 rs758903344 |
402 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA3652195 rs201340830 |
403 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362917213 rs201340830 |
403 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3652194 rs201340830 |
403 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3652179 COSM282698 rs769390413 |
404 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1191642448 CA362915077 |
406 | N>K | No |
ClinGen TOPMed |
|
|
CA362915057 rs1484714138 |
407 | N>D | No |
ClinGen gnomAD |
|
|
CA3652177 rs565816144 |
408 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3652175 rs746588008 |
409 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs779285203 CA3652174 |
410 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362914863 rs1581394090 |
411 | Y>C | No |
ClinGen Ensembl |
|
|
CA362914877 rs1327130232 |
411 | Y>D | No |
ClinGen gnomAD |
|
|
CA3652173 rs45596536 |
412 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3652171 rs1270776024 |
413 | L>P | No |
ClinGen Ensembl |
|
|
rs1395676527 CA362914781 |
413 | L>V | No |
ClinGen gnomAD |
|
|
CA3652170 rs749605234 |
415 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3652169 rs202103289 |
416 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368325402 CA3652168 |
417 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 418 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750575818 CA3652167 |
419 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1361514378 CA362914580 |
419 | K>M | No |
ClinGen gnomAD |
|
|
rs1227138121 CA362914575 |
419 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3652166 rs781522458 |
420 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA362914542 rs1355754866 |
420 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145880002 CA135016384 |
423 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs376306398 CA3652165 |
424 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751725994 CA3652164 |
425 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1354662717 CA362914306 |
426 | T>N | No |
ClinGen TOPMed |
|
|
rs763882716 CA3652163 |
427 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA135016338 rs983799144 |
428 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs952412717 CA135016307 |
429 | V>A | No |
ClinGen Ensembl |
|
|
CA3652161 rs200104220 |
429 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1581393987 CA362914102 |
430 | T>A | No |
ClinGen Ensembl |
|
|
CA135016301 rs200183074 |
431 | Q>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs200183074 CA362914032 |
431 | Q>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3652158 rs776135121 |
432 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759376183 CA3652159 |
432 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA362913867 rs1411523625 |
436 | Y>* | No |
ClinGen gnomAD |
|
|
rs1394462814 CA362913830 |
437 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA362913682 rs1402881107 |
440 | P>L | No |
ClinGen gnomAD |
|
|
CA135016281 rs201359826 |
440 | P>T | No |
ClinGen TOPMed |
|
|
CA362913544 rs1385408168 |
444 | L>F | No |
ClinGen TOPMed |
|
|
CA362913555 rs1157465011 |
444 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 445 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418718922 CA362913527 |
445 | A>V | No |
ClinGen TOPMed |
|
|
CA3652153 rs749843492 |
446 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652151 rs770256909 |
448 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3652149 rs781263457 |
449 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs757503452 CA3652148 |
449 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3652147 rs2065649 VAR_050025 |
450 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777864824 CA3652146 |
451 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA362913176 rs1190278550 |
453 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3652145 rs758516817 |
453 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3652123 rs373570941 |
455 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3652122 rs778756939 |
456 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386190911 CA362909282 |
459 | Y>H | No |
ClinGen TOPMed |
|
|
CA362909145 rs1433779617 COSM394815 |
463 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs754959439 CA3652121 |
464 | S>R | No |
ClinGen ExAC |
|
|
CA3652120 rs753525754 |
466 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652119 rs766226275 |
467 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs755900956 CA362908966 |
469 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257050461 CA362908960 |
469 | L>P | No |
ClinGen TOPMed |
|
|
rs755900956 CA362908973 |
469 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA135011609 rs878942724 |
470 | F>L | No |
ClinGen Ensembl |
|
|
CA3652116 rs767333251 |
470 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362908863 rs1259764562 |
473 | M>T | No |
ClinGen gnomAD |
|
|
rs1476111615 CA362908879 |
473 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362908776 rs1443720412 |
476 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3652115 rs761399884 |
477 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3652114 rs774000304 |
479 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3652111 rs777048008 |
480 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581389169 CA362908635 |
482 | R>G | No |
ClinGen Ensembl |
|
|
CA3652110 rs570390067 |
482 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1302009901 CA362908591 |
483 | P>L | No |
ClinGen gnomAD |
|
|
rs1561742057 CA362908540 |
484 | Q>P | No |
ClinGen Ensembl |
|
|
CA362908434 rs1441406692 |
487 | N>D | No |
ClinGen gnomAD |
|
|
rs772287150 CA3652106 |
487 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs748170285 CA3652101 |
488 | S>C | No |
ClinGen ExAC |
|
|
CA3652102 COSM1076405 rs748170285 |
488 | S>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs748170285 CA3652104 |
488 | S>Y | No |
ClinGen ExAC |
|
|
CA362908308 rs1299552892 |
489 | I>V | No |
ClinGen gnomAD |
|
|
CA3652097 rs779903802 |
490 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749217069 CA3652098 |
490 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1581389107 CA362908241 |
491 | K>E | No |
ClinGen Ensembl |
|
|
rs755923575 CA3652096 |
491 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362908188 rs1415536659 |
492 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 494 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362908037 rs1408757029 |
496 | D>C | No |
ClinGen gnomAD |
|
|
CA362908079 rs1423340524 |
496 | D>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362908046 rs1457309125 |
496 | D>S | No |
ClinGen TOPMed |
No associated diseases with Q6ZNC8
No regional properties for Q6ZNC8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6ZNC8 | |||
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
6 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-acylglycerophosphoethanolamine O-acyltransferase activity | Catalysis of the reaction: a 1-acyl-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CoA. |
| 1-acylglycerophosphoserine O-acyltransferase activity | Catalysis of the reaction:a 1-acyl-sn-glycero-3-phospho-L-serine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phospho-L-serine + CoA. |
| 2-acylglycerol-3-phosphate O-acyltransferase activity | Catalysis of the reaction: 2-acyl-sn-glycerol 3-phosphate + acyl-CoA = L-phosphatidate + CoA. |
| acyltransferase activity | Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid modification | The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. |
| 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. |
| phosphatidylserine acyl-chain remodeling | Remodeling the acyl chains of phosphatidylserine, through sequential deacylation and re-acylation reactions, to generate phosphatidylserine 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. |
| regulation of neuron projection development | Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6ZWT7 | MBOAT2 | Lysophospholipid acyltransferase 2 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAEPQPSSL | SYRTTGSTYL | HPLSELLGIP | LDQVNFVVCQ | LVALFAAFWF | RIYLRPGTTS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SDVRHAVATI | FGIYFVIFCF | GWYSVHLFVL | VLMCYAIMVT | ASVSNIHRYS | FFVAMGYLTI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CHISRIYIFH | YGILTTDFSG | PLMIVTQKIT | TLAFQVHDGL | GRRAEDLSAE | QHRLAIKVKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFLEYLSYLL | NFMSVIAGPC | NNFKDYIAFI | EGKHIHMKLL | EVNWKRKGFH | SLPEPSPTGA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VIHKLGITLV | SLLLFLTLTK | TFPVTCLVDD | WFVHKASFPA | RLCYLYVVMQ | ASKPKYYFAW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TLADAVNNAA | GFGFSGVDKN | GNFCWDLLSN | LNIWKIETAT | SFKMYLENWN | IQTATWLKCV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CYQRVPWYPT | VLTFILSALW | HGVYPGYYFT | FLTGILVTLA | ARAVRNNYRH | YFLSSRALKA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VYDAGTWAVT | QLAVSYTVAP | FVMLAVEPTI | SLYKSMYFYL | HIISLLIILF | LPMKPQAHTQ |
| 490 | |||||
| RRPQTLNSIN | KRKTD |