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 P24001

Entry ID Method Resolution Chain Position Source
AF-P24001-F1 Predicted AlphaFoldDB

380 variants for P24001

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1180512486
CA394450180
3 F>S No ClinGen
gnomAD
rs755307247
CA7856622
4 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7856623
rs755307247
4 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1411811415
CA394450186
4 P>S No ClinGen
gnomAD
CA7856625
rs770405203
5 K>E No ClinGen
ExAC
gnomAD
rs114354531
CA394451386
6 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114354531
COSM3690958
CA7856663
COSM3690959
RCV000968724
6 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394451388
rs114354531
6 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394451411
rs1337467275
8 S>P No ClinGen
gnomAD
rs746682981
CA7856664
10 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs1230006322
CA394451459
11 M>I No ClinGen
gnomAD
TCGA novel 11 M>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394451457
rs1327280613
11 M>T No ClinGen
gnomAD
rs372604790
CA7856665
11 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs547829248
CA394451527
15 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773196760
CA7856669
16 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA394451540
rs773196760
16 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs774458382
CA394451544
17 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs774458382
CA7856672
17 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7856673
rs561371637
17 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1375788136
CA394451562
18 M>K No ClinGen
gnomAD
rs767794140
CA7856674
18 M>L No ClinGen
ExAC
gnomAD
rs752796018
CA7856675
19 V>L No ClinGen
ExAC
CA7856678
rs113075507
20 M>I No ClinGen
ExAC
gnomAD
rs764542270
CA7856677
20 M>T No ClinGen
ExAC
gnomAD
rs761171126
CA7856676
20 M>V No ClinGen
ExAC
gnomAD
rs1354702133
CA394451602
21 L>F No ClinGen
TOPMed
rs757809713
CA7856680
21 L>P No ClinGen
ExAC
TOPMed
gnomAD
RCV000900852
rs769602896
22 L>missing No ClinVar
dbSNP
rs55756224
CA7856682
22 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1567142932
CA620712348
22 L>F No ClinGen
Ensembl
rs754385064
CA7856683
23 P>S No ClinGen
ExAC
gnomAD
rs1018972379
CA276878244
24 T>A No ClinGen
TOPMed
rs1490939230
CA394451645
24 T>S No ClinGen
TOPMed
gnomAD
CA7856685
rs201900317
25 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276878259
rs201900317
25 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276878255
rs936563185
25 S>P No ClinGen
TOPMed
gnomAD
CA394451666
rs1327735225
26 A>D No ClinGen
TOPMed
gnomAD
rs755957701
CA7856687
27 Q>* No ClinGen
ExAC
gnomAD
rs913522456
CA276878273
27 Q>P No ClinGen
gnomAD
rs1485988682
CA394451691
28 G>R No ClinGen
TOPMed
gnomAD
CA394451725
rs1199920264
30 G>E No ClinGen
gnomAD
CA7856691
rs371706904
30 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745965931
CA7856694
31 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs745965931
CA7856693
31 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA394451750
rs1364523600
32 W>S No ClinGen
TOPMed
gnomAD
rs1161723321
CA394451765
33 V>A No ClinGen
gnomAD
rs951472884
CA276878347
33 V>I No ClinGen
TOPMed
gnomAD
rs376323814
CA394451772
34 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376323814
CA7856695
34 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760959135
CA394451787
35 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs760959135
CA7856696
35 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1349098419
CA394451801
36 C>Y No ClinGen
gnomAD
rs868507983
CA276878383
37 D>G No ClinGen
Ensembl
rs1374139568
CA394451812
37 D>H No ClinGen
TOPMed
rs539684284
CA7856700
39 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750824317
CA7856701
40 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA394451841
rs1263274099
40 D>N No ClinGen
gnomAD
CA7856702
rs754580611
41 T>S No ClinGen
ExAC
gnomAD
CA7856704
rs752442725
42 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA394451856
rs752442725
42 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA394451859
rs752442725
42 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA7856703
rs766919795
42 V>M No ClinGen
ExAC
gnomAD
CA7856706
rs777364422
43 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1185544689
CA394451869
43 G>V No ClinGen
gnomAD
CA394451877
rs1384785063
44 H>Y No ClinGen
gnomAD
rs749103415
CA7856707
46 G>E No ClinGen
ExAC
gnomAD
CA7856709
rs778976584
48 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA7856708
rs756980976
48 W>R No ClinGen
ExAC
gnomAD
rs1429649864
CA394451944
49 R>K No ClinGen
gnomAD
CA276878496
rs916507315
50 D>A No ClinGen
TOPMed
CA394451962
rs1596251827
50 D>H No ClinGen
Ensembl
TCGA novel 50 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7856711
rs772245098
51 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs775405103
CA7856712
51 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA394451982
rs1317517901
51 K>R No ClinGen
TOPMed
rs201114894
CA394451995
52 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201114894
CA7856713
52 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs566802763
CA7856714
53 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394452044
rs762269785
54 A>G No ClinGen
ExAC
gnomAD
CA7856716
rs762269785
54 A>V No ClinGen
ExAC
gnomAD
rs773824307
CA394452051
55 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs773824307
CA7856718
55 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs767093013
CA276878581
CA7856720
56 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA7856719
rs763343691
56 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA7856721
rs752233130
57 C>Y No ClinGen
ExAC
gnomAD
rs760128612
CA7856722
58 Q>E No ClinGen
ExAC
gnomAD
rs763748487
CA7856723
58 Q>H No ClinGen
ExAC
gnomAD
rs962309213
CA276878614
59 L>F No ClinGen
gnomAD
CA394452135
rs962309213
59 L>V No ClinGen
gnomAD
rs1428246824
CA394452166
60 C>* No ClinGen
TOPMed
gnomAD
CA394452159
rs1185714861
60 C>R No ClinGen
gnomAD
CA394452164
rs1388676429
60 C>S No ClinGen
gnomAD
CA7856724
rs753486240
61 L>F No ClinGen
ExAC
gnomAD
CA7856726
rs778552874
61 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA276878631
rs778552874
61 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs753486240
CA7856725
61 L>V No ClinGen
ExAC
gnomAD
rs758302498
CA7856728
62 S>F No ClinGen
ExAC
gnomAD
rs555441503
CA7856727
62 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394452241
rs1247123625
64 Q>H No ClinGen
TOPMed
gnomAD
rs370139293
CA7856729
64 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394452262
rs1474382960
65 H>Q No ClinGen
TOPMed
rs747102738
CA7856730
65 H>R No ClinGen
ExAC
gnomAD
rs1167376425
CA394452250
65 H>Y No ClinGen
TOPMed
rs954767005
CA276878649
CA394452294
66 Q>H No ClinGen
gnomAD
CA7856731
rs768786551
67 A>P No ClinGen
ExAC
gnomAD
CA7856732
rs115923319
RCV000957361
68 I>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7856733
rs748365535
68 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs115923319
CA394452316
68 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 69 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139541431
CA7856734
69 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs910339811
CA276878660
69 E>K No ClinGen
TOPMed
rs910339811
CA394452337
69 E>Q No ClinGen
TOPMed
rs144473418
CA394452357
70 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000957362
CA7856735
rs144473418
70 R>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs763334955
CA394452367
70 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7856736
rs763334955
70 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs998107980
CA276878707
71 F>C No ClinGen
TOPMed
CA394452380
rs1205686463
71 F>L No ClinGen
TOPMed
gnomAD
RCV000957363
CA7856739
rs147775375
72 Y>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7856738
rs774782082
72 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA7856740
rs147775375
72 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394452448
rs1287661910
73 D>E No ClinGen
TOPMed
CA394452440
rs1246043181
73 D>G No ClinGen
gnomAD
CA7856741
rs753539663
73 D>H No ClinGen
ExAC
gnomAD
CA394452488
rs1567143982
75 M>L No ClinGen
Ensembl
CA7856742
rs761341688
76 Q>E No ClinGen
ExAC
gnomAD
CA394452571
rs1427947994
78 A>T No ClinGen
gnomAD
CA394452582
rs1469824970
78 A>V No ClinGen
gnomAD
rs764907070
CA394452587
79 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs764907070
CA7856743
79 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394452619
rs750210356
80 S>A No ClinGen
ExAC
gnomAD
CA7856744
rs750210356
80 S>P No ClinGen
ExAC
gnomAD
CA394452612
rs750210356
80 S>T No ClinGen
ExAC
gnomAD
rs758158107
CA7856746
81 G>* No ClinGen
ExAC
TOPMed
gnomAD
CA7856745
CA394452631
rs758158107
81 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7856748
rs140063808
82 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394452652
rs140063808
82 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145687578
COSM1736689
COSM1736688
RCV000881894
CA7856749
82 R>H central_nervous_system [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs145687578
CA394452662
82 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394452655
rs140063808
82 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764404714
CA394452687
83 G>* No ClinGen
ExAC
TOPMed
gnomAD
CA7856751
rs748418655
83 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA7856752
rs748418655
83 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs764404714
CA7856750
83 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs751803269
CA276878784
84 Q>* No ClinGen
TOPMed
rs749627881
CA394452728
84 Q>H No ClinGen
ExAC
TOPMed
TCGA novel 85 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs555143181
CA276879672
85 V>A No ClinGen
1000Genomes
TOPMed
gnomAD
rs746827176
CA7856841
85 V>L No ClinGen
ExAC
gnomAD
CA394453355
rs1323479868
86 M>I No ClinGen
TOPMed
gnomAD
CA394453349
rs1281886521
86 M>T No ClinGen
gnomAD
CA7856842
rs768334620
87 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1222313236
CA394453374
87 S>P No ClinGen
gnomAD
rs1222313236
CA394453369
87 S>T No ClinGen
gnomAD
rs748059973
CA7856844
88 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs375511525
CA7856845
CA7856846
88 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs762969307
CA7856847
89 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA394453420
rs1385274355
89 L>R No ClinGen
TOPMed
rs962695296
CA276879710
90 A>E No ClinGen
Ensembl
CA7856848
rs766634927
91 E>D No ClinGen
ExAC
gnomAD
CA7856852
rs774367638
92 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs774367638
CA394453463
92 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs774367638
CA7856851
92 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA7856849
rs1367226412
92 L>V No ClinGen
TOPMed
CA7856855
rs753306353
93 E>D No ClinGen
ExAC
gnomAD
rs1177236277
CA394453487
93 E>G No ClinGen
gnomAD
CA394453472
rs140715128
93 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7856853
rs140715128
93 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7856904
rs142297204
95 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394454816
rs142297204
95 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276880195
rs923906431
96 F>L No ClinGen
TOPMed
rs780479426
CA7856906
97 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA7856908
rs747208885
98 E>D No ClinGen
ExAC
TOPMed
CA394454927
rs1173650357
98 E>Q No ClinGen
gnomAD
rs776886763
CA7856909
99 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs762192851
CA7856910
99 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762192851
CA7856911
99 G>V No ClinGen
ExAC
gnomAD
CA7856913
rs151244938
100 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1567146920
CA394455026
100 Y>C No ClinGen
Ensembl
CA7856912
rs773705481
100 Y>H No ClinGen
ExAC
TOPMed
rs1567146898
CA620419767
100 Y>LL* No ClinGen
Ensembl
rs767002084
CA394455076
102 E>D No ClinGen
ExAC
gnomAD
rs1319931164
CA394455068
102 E>G No ClinGen
gnomAD
rs1262666211
CA394455114
103 T>I No ClinGen
gnomAD
rs1324523222
CA394455142
104 V>G No ClinGen
TOPMed
gnomAD
CA276880275
rs948189979
105 A>E No ClinGen
gnomAD
CA394455149
rs1240686984
105 A>P No ClinGen
gnomAD
CA394455147
rs1240686984
105 A>S No ClinGen
gnomAD
CA394455152
rs1240686984
105 A>T No ClinGen
gnomAD
COSM1377452
CA394455202
COSM1377451
rs948189979
105 A>V large_intestine Variant assessed as Somatic; 0.000156 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA394455215
rs1265900523
106 A>T No ClinGen
gnomAD
CA7856919
rs373258732
107 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1196646153
CA394455253
107 Y>H No ClinGen
gnomAD
CA7856920
rs757010100
108 Y>D No ClinGen
ExAC
TOPMed
gnomAD
rs1177739539
CA394455308
108 Y>S No ClinGen
gnomAD
CA276880317
rs1046974488
109 E>D No ClinGen
TOPMed
gnomAD
CA7856922
rs750359181
110 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA276880339
rs375992790
111 Q>H No ClinGen
ESP
CA7856923
rs758597913
112 H>N No ClinGen
ExAC
gnomAD
CA7856924
rs141583132
RCV000953026
113 P>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141583132
CA394455475
113 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1198749662
CA394455791
114 E>Q No ClinGen
gnomAD
rs766427838
CA7856958
116 T>I No ClinGen
ExAC
gnomAD
CA394455865
rs1291235643
117 P>L No ClinGen
TOPMed
rs751542510
CA7856959
117 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs751542510
CA394455847
117 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA394455883
rs755073142
119 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA7856961
rs767615947
119 L>P No ClinGen
ExAC
gnomAD
CA7856960
rs755073142
119 L>V No ClinGen
ExAC
TOPMed
gnomAD
COSM703185
rs1567149523
CA394455903
120 E>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1466155579
CA394455964
122 E>G No ClinGen
gnomAD
rs1229385571
CA394455953
122 E>Q No ClinGen
TOPMed
rs752904266
CA7856963
123 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA394456019
rs1452265364
124 D>E No ClinGen
gnomAD
rs1335253358
CA394456033
125 G>A No ClinGen
gnomAD
TCGA novel 125 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777924344
CA394456058
127 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs754206288
CA394456064
127 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7856966
rs754206288
127 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777924344
CA7856965
127 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA394456089
rs1270072853
128 C>F No ClinGen
gnomAD
CA394456074
rs1428700109
128 C>S No ClinGen
TOPMed
CA276881415
rs901230804
128 C>W No ClinGen
TOPMed
gnomAD
CA394456085
rs1270072853
128 C>Y No ClinGen
gnomAD
CA7856967
rs757614578
129 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1259501964
CA394456108
129 R>Q No ClinGen
TOPMed
gnomAD
CA7856969
COSM281907
rs371449782
130 G>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779453646
COSM1189154
CA7856968
130 G>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA394456148
rs1225330759
131 N>S No ClinGen
TOPMed
rs1279030567
CA394456143
131 N>Y No ClinGen
gnomAD
CA394456157
rs1490017576
132 R>G No ClinGen
TOPMed
rs1205997554
CA394456176
132 R>S No ClinGen
TOPMed
rs768089141
CA7856970
133 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7856971
rs768089141
133 S>Y No ClinGen
ExAC
gnomAD
rs1241381099
CA394456196
134 P>A No ClinGen
gnomAD
CA394456208
rs1478146828
134 P>L No ClinGen
gnomAD
CA394456211
rs1427350683
135 V>I No ClinGen
gnomAD
CA7856972
rs567269635
136 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394456243
rs567269635
136 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 136 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762911988
CA7856975
137 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7856976
rs762911988
137 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA276881471
rs1031589372
138 V>F No ClinGen
Ensembl
rs774483172
CA276881481
139 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA394456289
rs1399258503
139 E>Q No ClinGen
gnomAD
CA276881484
rs992493049
140 D>V No ClinGen
Ensembl
CA394456369
rs1402458039
142 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1343138480
CA394456405
144 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1025895864
CA276881516
145 E>K No ClinGen
TOPMed
gnomAD
CA7856983
rs764366058
147 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1203156122
CA394456480
147 G>R No ClinGen
gnomAD
CA7856982
rs764366058
147 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1203156122
CA394456486
147 G>W No ClinGen
gnomAD
CA394456512
rs779217049
148 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs757665795
CA276881534
148 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757665795
CA7856984
148 E>Q No ClinGen
ExAC
gnomAD
rs1266726761
CA394456525
149 S>N No ClinGen
gnomAD
CA394456578
rs1317124642
151 C>S No ClinGen
gnomAD
VAR_005506 152 D>N No UniProt
rs920380792
CA276881551
154 V>A No ClinGen
Ensembl
rs750709861
CA7856986
154 V>L No ClinGen
ExAC
gnomAD
rs1379518054
CA394456672
155 M>I No ClinGen
gnomAD
CA276881553
rs1034287357
155 M>R No ClinGen
TOPMed
rs758963925
CA7856987
155 M>V No ClinGen
ExAC
gnomAD
rs958331534
CA276881559
157 W>* No ClinGen
TOPMed
rs1158338689
CA394456707
157 W>R No ClinGen
gnomAD
rs931479975
CA276881562
158 F>L No ClinGen
TOPMed
CA7856990
rs570334137
159 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs570334137
CA7856989
159 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394456789
rs1422024423
159 Q>R No ClinGen
TOPMed
gnomAD
CA394456817
rs1204064325
160 A>T No ClinGen
TOPMed
rs1225116729
CA394456860
161 M>T No ClinGen
TOPMed
rs748929635
CA7856993
161 M>V No ClinGen
ExAC
gnomAD
rs770892725
CA7856994
163 Q>* No ClinGen
ExAC
gnomAD
rs774320014
CA7856995
164 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394456958
rs371460714
164 R>W Variant assessed as Somatic; 4.798e-05 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs759204196
CA7856996
165 L>V No ClinGen
ExAC
gnomAD
rs1289439699
CA394457018
166 Q>* No ClinGen
gnomAD
rs772061055
CA7856997
166 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1210501469
CA394457064
167 T>N No ClinGen
gnomAD
CA394457088
rs1269628679
168 W>* No ClinGen
gnomAD
CA394457089
rs1269628679
168 W>C No ClinGen
gnomAD
rs775284592
CA7856998
169 W>* No ClinGen
ExAC
gnomAD
CA394457130
rs775284592
169 W>L No ClinGen
ExAC
gnomAD
CA7857002
rs764135077
170 H>Q No ClinGen
ExAC
TOPMed
CA7856999
rs760865971
170 H>Y No ClinGen
ExAC
gnomAD
rs1463194715
CA394457166
171 G>E No ClinGen
gnomAD
COSM300227
CA7857004
CA7857003
rs538977484
171 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
NCI-TCGA
CA394457194
rs1596268306
172 V>G No ClinGen
Ensembl
rs1458918624
CA394457228
173 L>P No ClinGen
TOPMed
gnomAD
rs374583841
CA7857008
173 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 173 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755737640
CA7857010
174 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA7857011
rs755737640
174 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs752000903
CA7857009
174 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA394457273
rs940293113
175 W>* No ClinGen
gnomAD
CA394457263
rs1365711104
175 W>R No ClinGen
gnomAD
rs940293113
CA276881673
175 W>S No ClinGen
gnomAD
CA7857015
rs756994398
177 K>N No ClinGen
ExAC
gnomAD
rs1239650644
CA394457437
178 E>A No ClinGen
TOPMed
CA7857017
rs745680533
178 E>D No ClinGen
ExAC
gnomAD
rs778372895
CA7857016
178 E>K No ClinGen
ExAC
gnomAD
CA7857018
rs771750080
179 K>R No ClinGen
ExAC
gnomAD
rs541511099
CA7857019
180 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761820961
CA7857023
181 V>A No ClinGen
ExAC
gnomAD
rs776711769
CA7857022
181 V>M No ClinGen
ExAC
gnomAD
rs765446264
CA7857024
182 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA394457511
rs765446264
182 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA394457504
rs765446264
182 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs773298486
CA7857025
182 A>V No ClinGen
ExAC
gnomAD
CA7857026
rs763437038
183 L>M No ClinGen
ExAC
gnomAD
CA7857027
rs766634535
183 L>P No ClinGen
ExAC
gnomAD
rs763437038
CA394457533
183 L>V No ClinGen
ExAC
gnomAD
CA7857029
rs139497186
184 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394457704
rs753414314
185 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1289837883
CA394457732
186 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs756761335
CA7857032
186 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA394457735
rs1289837883
186 A>V No ClinGen
TOPMed
rs574601205
CA7857033
187 V>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 188 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567151566
CA394457831
188 Q>R No ClinGen
Ensembl
TCGA novel 189 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745486455
CA7857034
189 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs758251866
CA7857035
195 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs904645833
CA276881832
195 Q>R No ClinGen
gnomAD
rs779743927
CA7857036
196 S>R No ClinGen
ExAC
rs1387232574
CA394458184
196 S>T No ClinGen
TOPMed
CA7857037
rs746754097
197 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs768591207
CA394458269
198 C>F No ClinGen
ExAC
gnomAD
rs768591207
CA7857038
198 C>Y No ClinGen
ExAC
gnomAD
CA7857039
rs776480395
199 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs776480395
CA7857040
199 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA7857041
rs143049351
199 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773536097
CA7857042
200 S>F No ClinGen
ExAC
TOPMed
rs955913137
CA276881898
202 S>* No ClinGen
Ensembl
CA7857044
rs771147572
202 S>P No ClinGen
ExAC
gnomAD
TCGA novel 204 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7857045
rs368991361
204 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs897865773
CA276881921
205 F>Y No ClinGen
TOPMed
rs759924800
CA7857046
206 M>I No ClinGen
ExAC
gnomAD
CA7857048
rs768143359
209 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs768143359
CA7857047
209 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA7857050
rs373154056
210 Q>P No ClinGen
ESP
ExAC
gnomAD
rs373154056
CA7857051
210 Q>R No ClinGen
ESP
ExAC
gnomAD
rs148189652
CA394458821
212 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7857053
rs779696582
213 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs781160848
CA7857056
COSM557735
215 P>T lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs748058182
CA7857060
216 R>G No ClinGen
ExAC
TOPMed
rs531600758
CA7857064
216 R>L No ClinGen
1000Genomes
ExAC
TOPMed
rs531600758
CA7857063
216 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
COSM1189155
CA276881971
rs748058182
216 R>W lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
CA394458988
rs1264224846
217 G>E No ClinGen
gnomAD
CA7857068
rs749342733
217 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7857075
rs760045825
218 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA7857073
rs2981599
218 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA394459006
rs141220342
COSM115688
218 D>H ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA276882039
rs141220342
218 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141220342
CA7857072
218 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394459068
rs1596270396
219 K>Q No ClinGen
Ensembl
CA394459126
rs1253074348
220 E>G No ClinGen
gnomAD
CA276882061
rs377536439
220 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857077
rs377536439
220 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857078
rs150738098
221 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1259393620
CA394459141
221 E>K No ClinGen
gnomAD
CA7857084
rs766011549
224 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs751197524
CA7857085
225 Q>* No ClinGen
ExAC
gnomAD
CA394459327
rs140102091
225 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1177939943
CA394459374
227 C>G No ClinGen
gnomAD
rs780936859
CA7857087
227 C>Y No ClinGen
ExAC
gnomAD
rs143941291
CA7857089
230 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7857090
rs143941291
230 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7857092
rs147297738
231 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1371111124
CA394459512
231 Q>R No ClinGen
TOPMed
CA394459538
rs746055082
232 S>C No ClinGen
ExAC
gnomAD
rs746055082
CA7857094
232 S>F No ClinGen
ExAC
gnomAD
rs369007437
CA7857096
233 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369007437
CA7857097
233 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769043924
CA7857099
234 K>E No ClinGen
ExAC
gnomAD
rs769043924
CA7857098
234 K>Q No ClinGen
ExAC
gnomAD

No associated diseases with P24001

1 regional properties for P24001

Type Name Position InterPro Accession
domain CBM21 (carbohydrate binding type-21) domain 150 - 258 IPR005036

Functions

Description
EC Number
Subcellular Localization
  • Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

1 GO annotations of molecular function

Name Definition
cytokine activity The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells.

7 GO annotations of biological process

Name Definition
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
defense response Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack.
immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
negative regulation of viral life cycle Any process that stops, prevents or reduces the frequency, rate or extent of viral life cycle.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that activates or increases the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.
positive regulation of type III interferon production Any process that activates or increases the frequency, rate, or extent of type III interferon production. Interferon lambda is the only member of the type III interferon found so far.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MCFPKVLSDD MKKLKARMVM LLPTSAQGLG AWVSACDTED TVGHLGPWRD KDPALWCQLC
70 80 90 100 110 120
LSSQHQAIER FYDKMQNAES GRGQVMSSLA ELEDDFKEGY LETVAAYYEE QHPELTPLLE
130 140 150 160 170 180
KERDGLRCRG NRSPVPDVED PATEEPGESF CDKVMRWFQA MLQRLQTWWH GVLAWVKEKV
190 200 210 220 230
VALVHAVQAL WKQFQSFCCS LSELFMSSFQ SYGAPRGDKE ELTPQKCSEP QSSK