P24001
Gene name |
IL32 (NK4, TAIF) |
Protein name |
Interleukin-32 |
Names |
IL-32, Natural killer cells protein 4, Tumor necrosis factor alpha-inducing factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9235 |
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 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 |
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 |