Q8NFQ5
PR
Gene name |
BPIFB6 (BPIL3) |
Protein name |
BPI fold-containing family B member 6 |
Names |
Bactericidal/permeability-increasing protein-like 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:128859 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8NFQ5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NFQ5-F1 | Predicted | AlphaFoldDB |
420 variants for Q8NFQ5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776796699 CA9812715 |
3 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370471311 CA9812713 |
3 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372765955 CA9812716 |
5 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408614535 rs1184424470 |
6 | C>F | No |
ClinGen TOPMed |
|
|
CA408614528 rs1184424470 |
6 | C>Y | No |
ClinGen TOPMed |
|
|
CA313194140 rs1050913003 |
7 | L>R | No |
ClinGen Ensembl |
|
|
rs769565702 CA9812717 |
8 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA313194152 rs7363488 |
9 | L>P | No |
ClinGen Ensembl |
|
|
rs775474014 CA9812718 |
11 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408614760 rs1453711751 |
14 | T>I | No |
ClinGen TOPMed |
|
|
CA408614774 rs1381521993 |
15 | G>D | No |
ClinGen gnomAD |
|
|
rs754236988 CA313194159 |
16 | T>A | No |
ClinGen TOPMed |
|
|
VAR_033632 CA9812720 rs17301126 |
16 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754236988 CA408614781 |
16 | T>P | No |
ClinGen TOPMed |
|
|
COSM1411159 CA9812722 rs761397117 |
17 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9812723 rs767159371 |
17 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189608500 CA408614835 |
18 | A>G | No |
ClinGen gnomAD |
|
|
rs1600521653 CA408614868 |
19 | D>E | No |
ClinGen Ensembl |
|
|
rs1229662764 CA408614882 |
20 | P>R | No |
ClinGen TOPMed |
|
|
CA9812724 rs41293138 |
21 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1365104880 CA408614887 |
21 | G>R | No |
ClinGen TOPMed |
|
|
rs755673533 CA9812725 |
22 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9812726 rs765857458 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9812727 rs753217564 |
23 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9812731 rs148120627 |
25 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9812730 COSM1411160 rs148120627 |
25 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9812729 rs143653334 |
25 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408615580 rs557888176 |
26 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA313194206 rs958837244 |
26 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408615615 rs1291326000 |
27 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408615621 rs1291326000 |
27 | G>V | No |
ClinGen gnomAD |
|
|
CA408615632 rs1456696470 |
28 | M>K | No |
ClinGen TOPMed |
|
|
CA9812733 rs746123191 |
29 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408615641 rs1369146131 |
29 | D>N | No |
ClinGen gnomAD |
|
|
CA313194218 rs540873049 |
30 | I>F | No |
ClinGen Ensembl |
|
|
rs1326906306 CA408615696 |
31 | M>L | No |
ClinGen gnomAD |
|
|
rs1230079656 CA408615704 |
31 | M>R | No |
ClinGen gnomAD |
|
|
CA9812736 rs749207567 |
32 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA9812735 rs377190293 |
32 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9812739 rs774063482 |
33 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774063482 CA9812738 |
33 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273931667 CA408616019 |
34 | V>I | No |
ClinGen TOPMed |
|
|
CA9812766 rs376206362 |
36 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM185232 CA9812767 rs750762957 |
37 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1187576113 CA408616045 |
38 | M>V | No |
ClinGen gnomAD |
|
|
CA9812768 rs756291719 |
39 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408616062 rs1392111589 |
40 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9812769 rs766540525 |
41 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9812772 rs772081522 |
50 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs755029595 CA9812771 |
50 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs539135986 CA9812773 |
51 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988523380 CA313195238 |
55 | Q>* | No |
ClinGen gnomAD |
|
|
CA9812775 rs777569396 |
56 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs141885387 CA9812776 |
58 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408616188 rs141885387 |
58 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568984724 CA408616198 |
59 | K>T | No |
ClinGen Ensembl |
|
|
CA408616201 rs1221408523 |
60 | P>T | No |
ClinGen gnomAD |
|
|
CA408616209 rs1157926273 |
61 | I>V | No |
ClinGen TOPMed |
|
|
rs766725988 CA9812807 |
68 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567981759 CA9812810 |
69 | V>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA408616996 rs567981759 |
69 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9812809 rs759698917 |
69 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs901531467 CA313196116 |
70 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs41293140 CA9812811 |
71 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9812812 rs41293140 |
71 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200521254 CA9812813 |
74 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408617048 rs200521254 |
74 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375282067 CA9812815 |
76 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9812817 rs750244262 |
78 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1387511569 CA408617102 |
79 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370216982 CA9812818 |
81 | F>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA313196150 rs773542335 |
82 | V>G | No |
ClinGen Ensembl |
|
|
CA408617155 rs1290222072 |
82 | V>I | No |
ClinGen gnomAD |
|
|
CA408617153 rs1290222072 |
82 | V>L | No |
ClinGen gnomAD |
|
|
rs1568985080 CA408617191 |
85 | V>M | No |
ClinGen Ensembl |
|
|
rs779872125 CA9812819 |
86 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs779872125 CA408617216 |
86 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs200878625 CA9812820 |
87 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408617242 rs1299109556 |
88 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408617251 rs1484902114 |
89 | Q>K | No |
ClinGen TOPMed |
|
|
CA408617270 rs1223951429 |
90 | C>R | No |
ClinGen gnomAD |
|
|
CA9812821 rs768019730 |
90 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9812822 rs778553438 |
92 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9812824 rs2070317 VAR_024518 |
97 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1270185860 CA408617338 |
98 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs866096759 CA408617355 |
100 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA408617349 rs1481044432 |
100 | K>Q | No |
ClinGen gnomAD |
|
|
rs1410250955 CA408617360 |
101 | S>N | No |
ClinGen gnomAD |
|
|
rs543785887 CA9812856 |
103 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9812857 rs760761104 |
103 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408617387 rs760761104 |
103 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543785887 CA9812855 |
103 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9812858 rs200655488 |
105 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs200655488 CA313196631 |
105 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA408617397 rs1352038538 |
105 | G>R | No |
ClinGen Ensembl |
|
|
CA9812859 rs146275974 |
106 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9812860 rs754522092 |
107 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764973916 CA408617417 |
108 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764973916 CA9812861 |
108 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313196695 rs965455280 |
109 | I>V | No |
ClinGen Ensembl |
|
|
CA408617436 rs1329406845 |
111 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA408617442 rs1445463663 |
112 | A>T | No |
ClinGen gnomAD |
|
|
CA408617456 rs1267185919 |
114 | N>T | No |
ClinGen Ensembl |
|
|
rs1295466418 CA408617476 |
117 | A>T | No |
ClinGen gnomAD |
|
|
CA9812866 rs746373829 |
117 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA313196744 rs993360073 |
118 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780212362 CA9812868 |
119 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA313196757 rs976798815 COSM577131 |
119 | N>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs768708685 CA9812871 COSM1411161 |
120 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9812870 rs768708685 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371915417 CA9812869 |
120 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772272528 CA9812873 |
121 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9812875 rs189197855 |
123 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139195412 CA9812874 |
123 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1476078826 CA408617513 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs560043419 CA9812877 |
128 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560043419 CA9812876 |
128 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408617541 rs1433559361 |
129 | L>F | No |
ClinGen gnomAD |
|
|
CA9812878 rs759399901 |
130 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs144882396 CA9812880 |
131 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758117682 CA9812881 |
132 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1568985441 CA408617626 |
136 | G>C | No |
ClinGen Ensembl |
|
|
rs913611456 CA313196806 |
136 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 137 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328300482 CA408617651 |
137 | C>Y | No |
ClinGen gnomAD |
|
|
CA313196810 rs932985124 |
139 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751070760 CA9812884 |
140 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs751070760 CA9812883 |
140 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs971709174 CA313196841 |
144 | V>A | No |
ClinGen Ensembl |
|
|
rs749807117 CA9812886 |
145 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755337745 CA9812888 |
146 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408617886 rs779486945 CA9812889 |
147 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9812890 rs748367748 |
148 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479402079 CA408617956 |
149 | P>L | No |
ClinGen gnomAD |
|
|
rs11907355 CA408617941 |
149 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11907355 CA9812891 VAR_033633 |
149 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408617980 rs1201368213 |
150 | S>R | No |
ClinGen gnomAD |
|
|
rs62207509 CA408618104 |
151 | N>K | No |
ClinGen TOPMed |
|
|
rs1193909506 CA408618117 |
152 | M>V | No |
ClinGen gnomAD |
|
|
rs376978876 CA9812923 |
153 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1285717702 CA408618171 |
154 | P>S | No |
ClinGen TOPMed |
|
|
rs749914538 CA9812925 |
155 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM723085 rs1292161467 CA408618241 CA408618233 |
156 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs142547238 CA9812927 |
156 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142547238 CA9812926 |
156 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758816456 CA9812929 |
159 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs778325092 CA9812930 |
161 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751805647 CA9812931 |
162 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408618389 rs1438140465 |
163 | S>N | No |
ClinGen TOPMed |
|
|
rs1157818697 CA408618416 |
164 | T>S | No |
ClinGen TOPMed |
|
|
CA9812932 rs757482457 |
165 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9812934 rs745961142 |
166 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408618463 rs1394304226 |
167 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779941110 CA9812936 |
169 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA408618537 rs1432699829 |
171 | G>R | No |
ClinGen TOPMed |
|
|
CA9812938 rs768433319 |
172 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA9812961 rs746705988 |
173 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1490954519 CA408618699 COSM1316502 |
175 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs151337960 CA9812964 |
176 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151337960 CA9812963 COSM185235 |
176 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA408618717 rs1290090590 |
176 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201893414 CA9812965 |
177 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767976548 CA9812968 |
178 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774741947 CA9812967 |
178 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774741947 CA9812966 |
178 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408618803 COSM324825 rs1417624476 |
183 | Y>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9812971 rs766380186 |
184 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs753929307 CA9812972 |
190 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313197752 rs571194706 |
190 | N>S | No |
ClinGen 1000Genomes |
|
|
rs1218085446 CA408618995 |
191 | L>F | No |
ClinGen gnomAD |
|
|
rs538623298 CA408619005 |
191 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9812973 rs538623298 |
191 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9812974 rs778747101 |
192 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425196137 CA408620105 |
193 | D>A | No |
ClinGen gnomAD |
|
|
rs151289682 CA9813003 |
193 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9813004 rs186766598 |
194 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408620120 rs1600524601 |
195 | M>I | No |
ClinGen Ensembl |
|
|
rs1362678876 CA408620116 |
195 | M>V | No |
ClinGen TOPMed |
|
|
CA313198576 rs916371691 |
196 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9813005 rs773518008 |
196 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs916371691 CA408620124 |
196 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408620123 rs916371691 |
196 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1382287752 CA408620127 |
197 | V>M | No |
ClinGen gnomAD |
|
|
rs1450597909 CA408620144 |
199 | Q>R | No |
ClinGen gnomAD |
|
|
rs1360198467 COSM1411162 CA408620154 |
200 | M>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA408620150 rs946634784 |
200 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA313198583 rs946634784 |
200 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1568986022 CA408620155 |
201 | G>S | No |
ClinGen Ensembl |
|
|
rs1214535863 CA408620164 |
202 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs138157355 CA9813006 COSM149162 |
203 | V>I | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1047177299 CA313198587 |
204 | K>R | No |
ClinGen TOPMed |
|
|
rs999185919 CA313198589 |
206 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408620192 rs1568986040 |
207 | L>M | No |
ClinGen Ensembl |
|
|
rs1241518209 CA408620205 |
208 | M>I | No |
ClinGen TOPMed |
|
|
rs776811803 CA9813008 |
209 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1600524644 CA408620207 |
209 | S>P | No |
ClinGen Ensembl |
|
|
CA9813010 rs145056603 |
210 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145056603 CA408620216 |
210 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1025853 rs145056603 CA9813011 |
210 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1046642159 CA313198624 |
211 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 211 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408620249 rs1173352719 |
212 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9813013 rs367598730 |
212 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1007019303 CA313198648 |
213 | T>A | No |
ClinGen Ensembl |
|
|
CA408620306 rs1171091232 |
215 | A>D | No |
ClinGen gnomAD |
|
|
CA408620334 rs1470844157 |
216 | S>R | No |
ClinGen TOPMed |
|
|
CA313198691 rs756066193 |
218 | I>F | No |
ClinGen Ensembl |
|
| TCGA novel | 218 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9813017 rs141792049 |
219 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9813018 rs750098811 |
220 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755797986 CA9813019 |
222 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408620476 rs1268992344 |
223 | S>G | No |
ClinGen gnomAD |
|
|
rs1407209806 CA408620672 |
224 | P>H | No |
ClinGen gnomAD |
|
|
CA9813052 rs772842770 |
225 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9813054 rs375944385 |
227 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753515911 CA9813055 |
228 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs754691183 CA9813056 |
230 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764660272 CA9813057 |
233 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408620936 rs1489830510 |
234 | I>V | No |
ClinGen gnomAD |
|
|
CA9813058 rs752214371 |
237 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757710710 CA9813059 |
237 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781736022 CA9813060 |
238 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9813063 rs202105575 COSM258544 |
240 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749463109 CA9813064 |
241 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813065 rs769015811 |
243 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA408621266 rs373792246 |
244 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373792246 CA9813066 |
244 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408621264 rs373792246 |
244 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9813070 rs773179885 |
246 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813069 rs773179885 |
246 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408621345 rs1378652482 |
247 | E>* | No |
ClinGen gnomAD |
|
|
CA9813072 rs528320980 |
248 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408621366 rs528320980 |
248 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408621377 rs1313708314 |
248 | G>V | No |
ClinGen gnomAD |
|
|
CA9813073 rs759129090 |
250 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759129090 CA9813074 |
250 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313199677 rs888372837 |
252 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1369715038 CA408621464 |
253 | S>A | No |
ClinGen gnomAD |
|
|
rs762415914 CA9813076 COSM1411163 |
253 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs371787213 CA313199701 |
254 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1458356756 CA408621495 |
255 | Q>P | No |
ClinGen gnomAD |
|
|
rs1353909425 CA408621531 |
259 | P>A | No |
ClinGen gnomAD |
|
|
rs1600525418 CA408621542 |
261 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 262 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188872116 CA408621585 |
264 | S>Y | No |
ClinGen gnomAD |
|
|
rs779246830 CA9813084 |
265 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9813083 rs755212794 |
265 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1465839166 CA408621634 |
267 | L>F | No |
ClinGen gnomAD |
|
|
rs1335623780 CA408621635 |
267 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408621704 rs1170388492 |
271 | Q>* | No |
ClinGen TOPMed |
|
|
rs906558499 CA313199776 |
272 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9813086 rs748431089 |
276 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408621814 rs1384678957 |
276 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 276 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772177908 CA9813087 |
279 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473903832 CA408621908 |
280 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 281 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259722642 CA408621924 |
281 | T>K | No |
ClinGen gnomAD |
|
|
CA313199807 rs374063484 CA9813090 CA9813091 |
282 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746894731 CA9813089 |
282 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA408621931 rs1600525468 |
282 | M>V | No |
ClinGen Ensembl |
|
|
CA408622461 rs1301041856 |
285 | E>D | No |
ClinGen gnomAD |
|
|
CA408622462 rs1396516992 |
286 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1301489184 CA408622471 |
287 | P>L | No |
ClinGen TOPMed |
|
|
rs773873194 CA9813117 |
288 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773873194 CA408622476 |
288 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408622477 rs773873194 |
288 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408622479 rs1220067675 |
289 | Q>E | No |
ClinGen gnomAD |
|
|
rs761200225 CA9813118 |
291 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315209808 CA408622496 |
291 | T>I | No |
ClinGen gnomAD |
|
|
rs1415744440 CA408622510 |
293 | T>I | No |
ClinGen TOPMed |
|
|
rs141794458 CA9813121 |
294 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9813122 COSM69841 rs765631164 |
295 | A>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9813123 rs150580944 |
296 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9813125 VAR_065088 rs79809934 |
296 | R>H | Variant assessed as Somatic; 0.0 impact. de novo variant found in a patient with intellectual disability [NCI-TCGA, UniProt] | No |
ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs79809934 COSM4134453 CA9813124 |
296 | R>L | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs751844759 CA9813126 |
298 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA408622532 rs1488986695 |
298 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9813127 rs757258427 |
299 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953360646 CA313201184 |
301 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1213592689 CA408622570 |
302 | A>G | No |
ClinGen gnomAD |
|
|
rs762158268 CA9813146 |
306 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467398645 CA408622602 |
307 | K>R | No |
ClinGen gnomAD |
|
|
rs1332246304 CA408622613 |
309 | K>E | No |
ClinGen gnomAD |
|
|
CA9813148 rs370022331 |
310 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139462993 CA408622665 |
312 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139462993 CA9813150 |
312 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754718394 CA9813152 |
313 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313201216 rs770676947 |
317 | I>L | No |
ClinGen Ensembl |
|
|
CA313201219 rs919508695 |
317 | I>T | No |
ClinGen TOPMed |
|
|
rs778835815 CA9813153 |
320 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs371753435 CA9813154 |
321 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9813155 rs549365003 |
324 | T>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1255873637 CA408622872 |
325 | M>T | No |
ClinGen TOPMed |
|
|
CA9813156 rs777369840 |
325 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408622881 rs1231937909 |
326 | K>Q | No |
ClinGen TOPMed |
|
|
CA9813157 rs746548517 |
326 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770602260 CA9813158 |
327 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408622908 rs775834459 |
328 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813159 rs775834459 |
328 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1432460073 CA408622902 |
328 | G>S | No |
ClinGen TOPMed |
|
|
CA313201255 rs775834459 |
328 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813160 rs776516578 |
330 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768894788 CA9813161 |
331 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9813163 rs761895203 |
335 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA313201270 rs867999560 |
336 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 339 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408622986 rs1466677979 |
340 | M>I | No |
ClinGen TOPMed |
|
|
CA313201301 rs45495506 |
342 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9813166 rs45495506 |
342 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1336226503 CA408623006 |
343 | A>V | No |
ClinGen gnomAD |
|
|
rs753717166 CA9813169 |
344 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753717166 CA408623008 |
344 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753717166 CA9813168 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813167 rs766503313 |
344 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9813171 rs752557415 |
345 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408623018 rs775084528 |
346 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813173 rs775084528 |
346 | R>Q | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs550355845 COSM1025857 CA9813172 |
346 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408623021 rs4911287 |
347 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4911287 VAR_033634 CA9813174 |
347 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4911287 CA408623020 |
347 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9813176 rs780819648 |
348 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9813178 rs769231359 |
349 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144850349 COSM328461 CA9813177 |
349 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA408623036 rs769231359 |
349 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408623040 rs1260861390 |
350 | P>S | No |
ClinGen gnomAD |
|
|
rs377574610 CA9813179 |
351 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762138075 CA9813180 |
352 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9813182 rs773409886 |
357 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773409886 CA408623082 |
357 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408623094 rs1425965637 |
358 | V>G | No |
ClinGen gnomAD |
|
|
CA313205136 rs776532324 |
361 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776532324 CA9813203 |
361 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408623294 rs1460791868 |
366 | Y>F | No |
ClinGen TOPMed |
|
|
CA9813206 rs775551067 |
367 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166758261 CA408623312 |
369 | H>R | No |
ClinGen TOPMed |
|
|
CA408623330 rs763912790 CA9813208 |
371 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1459827406 CA408623338 |
372 | Q>H | No |
ClinGen gnomAD |
|
|
rs1164179687 CA408623339 |
373 | L>M | No |
ClinGen gnomAD |
|
|
CA9813209 rs73904431 |
373 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1401863232 CA408623355 |
375 | M>T | No |
ClinGen gnomAD |
|
|
rs1328789854 CA408623352 |
375 | M>V | No |
ClinGen gnomAD |
|
|
rs1279242900 CA408623363 |
376 | A>D | No |
ClinGen gnomAD |
|
|
CA408623360 rs1182679141 COSM1025858 |
376 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs767170355 CA9813211 |
377 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA408623384 rs1420922596 |
379 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408623395 rs1309741768 |
381 | R>K | No |
ClinGen gnomAD |
|
|
CA9813240 rs184329866 |
384 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9813242 rs781472350 |
385 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs142987040 CA408623443 |
387 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142987040 CA9813244 |
387 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769917866 CA9813243 |
387 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313206500 rs577457358 |
389 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM1025859 CA9813248 rs774420213 |
391 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771834354 CA9813250 |
392 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760328974 CA9813252 |
393 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1488321337 CA408623502 |
396 | N>K | No |
ClinGen gnomAD |
|
|
CA313206545 rs898753311 |
396 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 397 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759251368 COSM1713342 CA9813274 |
399 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1162408297 CA408623598 |
401 | T>I | No |
ClinGen gnomAD |
|
|
rs762329702 CA9813277 |
402 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA408623605 rs1458630593 |
402 | G>S | No |
ClinGen gnomAD |
|
|
rs934714117 CA313207108 |
403 | F>L | No |
ClinGen Ensembl |
|
|
CA408623618 rs1449067183 |
403 | F>V | No |
ClinGen gnomAD |
|
|
CA9813278 rs767938056 |
403 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs151104041 CA408623647 |
405 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9813280 rs151104041 |
405 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766920730 CA9813281 |
406 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1315295025 CA408623653 |
406 | S>N | No |
ClinGen gnomAD |
|
|
CA9813282 rs754050692 |
407 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1213943976 CA408623676 |
408 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779003259 CA408623688 |
409 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408623693 rs1199952856 |
409 | E>A | No |
ClinGen gnomAD |
|
|
rs779003259 COSM1723866 CA9813284 |
409 | E>K | Variant assessed as Somatic; 0.0 impact. NS breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA313207137 rs865892775 |
410 | E>V | No |
ClinGen Ensembl |
|
|
rs748209815 CA9813286 |
413 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1415697016 CA408623755 |
414 | P>S | No |
ClinGen gnomAD |
|
|
rs777548290 CA9813288 |
415 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813287 rs758543003 |
415 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA408623781 rs1467283580 |
416 | V>A | No |
ClinGen gnomAD |
|
|
CA9813291 rs776411676 |
417 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA408623792 rs1446469962 |
417 | N>S | No |
ClinGen gnomAD |
|
|
rs1600528442 CA408623855 |
418 | D>G | No |
ClinGen Ensembl |
|
|
CA9813292 rs550671958 |
418 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408623889 rs1600528443 |
421 | Q>* | No |
ClinGen Ensembl |
|
|
CA9813310 rs745691605 |
422 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9813309 rs374070367 |
422 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374070367 CA408623906 |
422 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769668730 CA9813311 |
423 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs749040484 CA9813314 |
426 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749040484 CA408623948 |
426 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9813316 rs773930350 |
427 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215448081 CA408623959 |
427 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771597893 CA408623967 COSM1713343 |
428 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771597893 CA9813318 |
428 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419659524 CA408623994 |
429 | F>L | No |
ClinGen gnomAD |
|
|
rs1362857747 CA408624007 |
431 | A>T | No |
ClinGen gnomAD |
|
|
CA9813322 rs752857350 |
432 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9813321 rs765689282 |
432 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140595029 CA9813323 |
434 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751657821 CA9813325 |
436 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568988547 CA408624092 |
437 | A>S | No |
ClinGen Ensembl |
|
|
rs1409635363 CA408624107 |
438 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1306976065 CA408624102 |
438 | E>K | No |
ClinGen gnomAD |
|
|
CA408624139 rs1355674352 |
441 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 442 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 443 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9813328 rs750421311 |
443 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1473945000 CA408624506 |
445 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs190948483 CA9813354 |
447 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs966009076 CA313207878 |
449 | D>N | No |
ClinGen TOPMed |
|
|
rs747858432 CA9813355 |
452 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9813356 rs150359459 |
453 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q8NFQ5
1 regional properties for Q8NFQ5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase M28 | 165 - 340 | IPR007484 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipid binding | Binding to a lipid. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRILCLALC | SLLTGTRADP | GALLRLGMDI | MNQVQSAMDE | SHILEKMAAE | AGKKQPGMKP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IKGITNLKVK | DVQLPVITLN | FVPGVGIFQC | VSTGMTVTGK | SFMGGNMEII | VALNITATNR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLRDEETGLP | VFKSEGCEVI | LVNVKTNLPS | NMLPKMVNKF | LDSTLHKVLP | GLMCPAIDAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVYVNRKWTN | LSDPMPVGQM | GTVKYVLMSA | PATTASYIQL | DFSPVVQQQK | GKTIKLADAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EALTFPEGYA | KGSSQLLLPA | TFLSAELALL | QKSFHVNIQD | TMIGELPPQT | TKTLARFIPE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAVAYPKSKP | LTTQIKIKKP | PKVTMKTGKS | LLHLHSTLEM | FAARWRSKAP | MSLFLLEVHF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NLKVQYSVHE | NQLQMATSLD | RLLSLSRKSS | SIGNFNEREL | TGFITSYLEE | AYIPVVNDVL |
| 430 | 440 | 450 | |||
| QVGLPLPDFL | AMNYNLAELD | IVENALMLDL | KLG |