Q6ZS10
Gene name |
CLEC17A |
Protein name |
C-type lectin domain family 17, member A |
Names |
Prolectin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:388512 |
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 Q6ZS10
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZS10-F1 | Predicted | AlphaFoldDB |
286 variants for Q6ZS10
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9255583 rs766081919 |
3 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 3 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305701473 rs762497693 |
4 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404444129 rs1337753453 |
6 | S>Y | No |
ClinGen gnomAD |
|
|
rs1357938517 CA404444136 |
7 | I>T | No |
ClinGen TOPMed |
|
|
rs1439831186 CA404444141 |
8 | T>S | No |
ClinGen gnomAD |
|
|
CA9255584 rs753870592 |
9 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1323913230 CA404444157 |
10 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9255585 rs754849090 |
11 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305701497 rs975391458 COSM3422467 |
12 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs748265594 CA404444171 |
13 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463264110 CA404444173 |
13 | P>L | No |
ClinGen TOPMed |
|
|
rs748265594 CA9255587 |
13 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs540450558 CA9255588 |
14 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404444175 rs1195864750 |
14 | P>T | No |
ClinGen gnomAD |
|
|
CA9255618 rs770517338 |
15 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404444205 rs1568442911 |
17 | M>T | No |
ClinGen Ensembl |
|
|
CA9255619 rs776297892 |
17 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs929782864 CA305701783 |
18 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs759261392 CA404444224 |
19 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs765055669 CA9255624 |
20 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1441236364 COSM991924 CA404444247 |
22 | E>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1446676949 CA404444255 |
23 | D>E | No |
ClinGen gnomAD |
|
|
rs1351257388 CA404444279 |
26 | Y>* | No |
ClinGen TOPMed |
|
|
CA9255627 rs762963063 COSM991925 |
27 | E>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA305701800 rs1008366973 |
28 | N>H | No |
ClinGen TOPMed |
|
|
CA9255628 rs764311250 |
28 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1290604234 CA404444301 |
30 | T>A | No |
ClinGen gnomAD |
|
|
rs757315385 CA9255630 |
31 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404444311 rs750595209 |
32 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs750595209 CA9255632 |
32 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756540307 CA9255633 |
33 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA404444318 rs1160344271 |
33 | Y>C | No |
ClinGen TOPMed |
|
|
CA404444319 rs1160344271 |
33 | Y>F | No |
ClinGen TOPMed |
|
|
CA404444329 rs1432964303 |
34 | K>N | No |
ClinGen TOPMed |
|
|
rs1599524169 CA404444334 |
35 | D>G | No |
ClinGen Ensembl |
|
|
CA9255636 rs376824328 |
36 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376824328 CA9255635 |
36 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305701848 COSM3735542 rs200257988 |
37 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA404444349 rs1394605684 |
38 | P>S | No |
ClinGen TOPMed |
|
|
rs1191326688 CA404444368 |
41 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs955417794 CA305704884 |
41 | G>V | No |
ClinGen TOPMed |
|
|
rs1200125657 CA404444793 |
43 | M>I | No |
ClinGen gnomAD |
|
|
rs367580965 CA9255657 |
43 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA9255659 rs552112270 |
44 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1412313175 CA404444826 |
46 | E>Q | No |
ClinGen gnomAD |
|
|
CA9255660 COSM1201340 rs780733761 |
48 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404444883 rs1463228349 |
49 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 55 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404444971 rs1349072069 |
57 | P>L | No |
ClinGen gnomAD |
|
|
CA9255661 rs745548943 |
57 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs371803480 CA9255665 |
62 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9255664 rs371803480 |
62 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774223439 CA9255666 |
62 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9255667 rs761798951 |
63 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255668 rs767540826 |
64 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404445028 rs1206920486 |
65 | K>E | No |
ClinGen gnomAD |
|
|
rs1444264891 CA404445048 |
66 | P>R | No |
ClinGen TOPMed |
|
|
rs1488731023 CA404445776 |
69 | M>V | No |
ClinGen gnomAD |
|
|
CA9255689 rs760753767 |
70 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs967125043 CA305707795 |
72 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs567554376 CA9255692 |
74 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9255691 rs776904591 |
74 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404445869 rs753137908 CA9255694 |
75 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354042720 CA404445865 |
75 | D>G | No |
ClinGen gnomAD |
|
|
rs765562448 CA9255693 |
75 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764674868 CA9255697 |
77 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763179467 CA9255695 |
77 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9255698 rs755756121 |
78 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255699 COSM228693 rs779700308 |
79 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404445958 rs1461340763 |
82 | T>A | No |
ClinGen gnomAD |
|
|
CA9255701 rs754625408 |
83 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs915727601 CA305707843 |
83 | P>T | No |
ClinGen TOPMed |
|
|
CA404445980 rs1235356271 |
84 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404445981 rs1235356271 |
84 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1357649404 CA404445995 |
85 | Y>C | No |
ClinGen TOPMed |
|
|
CA9255702 rs150637944 |
86 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1480982074 CA404446042 |
88 | L>R | No |
ClinGen TOPMed |
|
|
rs771702851 CA9255704 |
89 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404446552 rs1201595008 |
95 | S>I | No |
ClinGen gnomAD |
|
|
CA404446563 rs1238584776 |
97 | P>A | No |
ClinGen TOPMed |
|
|
rs1376019821 CA404446569 |
98 | P>S | No |
ClinGen gnomAD |
|
|
rs1168756889 CA404446597 |
102 | R>S | No |
ClinGen gnomAD |
|
|
rs777531272 CA9255723 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1599547115 CA404446629 |
106 | E>K | No |
ClinGen Ensembl |
|
|
rs1356515128 CA404446639 |
107 | T>S | No |
ClinGen TOPMed |
|
|
rs1162891939 CA404446663 |
110 | P>L | No |
ClinGen TOPMed |
|
|
CA9255739 rs752452950 |
110 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs757963370 CA9255740 |
111 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 111 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9255741 rs763915824 |
114 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255742 rs763915824 |
114 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404446690 rs1321976830 |
115 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404446696 rs376222790 |
116 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376222790 CA9255743 |
116 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138054531 CA9255745 |
117 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9255744 rs369115211 |
117 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404446711 rs1234286907 |
119 | M>L | No |
ClinGen TOPMed |
|
|
CA9255746 rs756279350 |
119 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9255747 rs779979349 |
120 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340191169 CA404446741 |
121 | G>V | No |
ClinGen gnomAD |
|
|
CA9255763 rs78269670 |
122 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375465288 CA9255764 |
123 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9255767 rs755048797 |
125 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs367815850 CA9255769 |
126 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772622288 CA9255770 |
127 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404446769 rs772622288 |
127 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404446778 rs1472777603 |
128 | T>S | No |
ClinGen gnomAD |
|
|
CA9255772 rs747589482 |
129 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1267225767 CA404446794 |
131 | P>A | No |
ClinGen TOPMed |
|
|
rs1176157078 CA404446801 |
132 | P>R | No |
ClinGen gnomAD |
|
|
rs537474682 CA9255773 |
132 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777139189 CA9255774 |
134 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA404446863 rs1568453259 |
140 | P>A | No |
ClinGen Ensembl |
|
|
CA305710743 rs368014882 |
140 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1294599423 CA404446873 |
142 | P>A | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1334702060 CA404446886 |
144 | Q>* | No |
ClinGen TOPMed |
|
|
rs371871014 CA9255797 |
145 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9255796 rs371871014 |
145 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1343142740 CA404446903 |
146 | S>F | No |
ClinGen gnomAD |
|
|
CA305710787 rs1045706174 |
147 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404446909 rs1272232438 |
148 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404446908 rs1272232438 |
148 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404447569 rs1449152790 |
149 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs368206109 CA9255800 COSM1480683 |
149 | A>T | Variant assessed as Somatic; 9.282e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778589852 CA305712424 |
152 | V>L | No |
ClinGen Ensembl |
|
|
CA404447609 rs1164780206 |
153 | P>R | No |
ClinGen gnomAD |
|
|
rs747893944 CA305712437 |
155 | L>F | No |
ClinGen Ensembl |
|
|
CA305712457 rs890108053 COSM3388646 |
156 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9255819 rs374642912 |
158 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374642912 CA9255818 |
158 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776533743 CA9255820 |
158 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9255821 rs759362478 |
161 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255822 rs201943272 |
162 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775509873 CA9255823 |
164 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 165 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9255824 rs763010053 |
166 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs764221793 CA9255825 |
168 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs751779668 CA404447776 |
169 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs751779668 CA9255826 |
169 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA9255827 rs757472883 |
170 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404447797 rs1599551464 |
171 | V>G | No |
ClinGen Ensembl |
|
|
CA9255829 COSM1523794 rs750812921 |
172 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1300008457 CA404447808 |
173 | L>P | No |
ClinGen Ensembl |
|
|
rs780540242 CA9255831 |
176 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404447827 rs1171326452 CA404447829 |
177 | V>L | No |
ClinGen TOPMed |
|
|
rs1599551532 CA404447837 |
178 | V>G | No |
ClinGen Ensembl |
|
|
CA305712553 rs758358975 |
179 | T>I | No |
ClinGen Ensembl |
|
|
rs749793508 CA9255832 |
179 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs757901878 CA9255833 |
180 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9255834 rs777312777 |
181 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9255836 rs770646733 |
184 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs770646733 CA404447869 |
184 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs776374091 CA9255837 |
186 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404447890 rs1357265241 |
188 | L>F | No |
ClinGen gnomAD |
|
|
CA305712598 rs969992775 |
189 | T>A | No |
ClinGen Ensembl |
|
|
rs745670773 CA9255838 |
193 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1599551658 CA404447931 |
195 | Y>H | No |
ClinGen Ensembl |
|
|
rs1452323438 CA404447953 |
196 | Q>* | No |
ClinGen gnomAD |
|
|
CA404447964 rs1201097378 |
197 | E>V | No |
ClinGen gnomAD |
|
|
rs1169419690 CA404447982 |
199 | M>I | No |
ClinGen gnomAD |
|
|
rs1192588879 CA404447978 |
199 | M>T | No |
ClinGen gnomAD |
|
|
CA9255864 rs374356876 |
200 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404447992 rs1427552541 |
201 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9255866 rs140228268 |
204 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866737571 CA305712751 |
208 | Q>* | No |
ClinGen Ensembl |
|
|
rs1388391041 CA404448049 |
209 | Q>* | No |
ClinGen gnomAD |
|
|
CA404448059 rs766766843 |
210 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255867 rs766766843 |
210 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255868 rs199539924 |
211 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404448064 rs1599551974 |
211 | T>P | No |
ClinGen Ensembl |
|
|
CA9255870 rs765787102 |
213 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255871 COSM991928 rs753078060 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404448082 rs1225694558 |
214 | T>A | No |
ClinGen gnomAD |
|
|
rs1352521000 CA404448084 |
214 | T>K | No |
ClinGen TOPMed |
|
|
rs900874209 CA305714700 |
217 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1452644078 COSM438733 CA404448454 |
218 | G>S | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753431748 CA9255896 |
220 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767654277 CA305714710 |
221 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404448482 rs1311661328 |
222 | L>R | No |
ClinGen gnomAD |
|
|
CA9255897 rs754856408 |
222 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373607326 CA305714714 |
228 | D>N | No |
ClinGen Ensembl |
|
|
rs778546672 CA9255898 |
229 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255899 rs200596379 |
230 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404448532 rs200596379 |
230 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404448533 rs200596379 |
230 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375201326 CA9255900 |
231 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9255901 rs777637590 COSM1600297 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404448553 rs770848670 |
234 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9255903 rs770848670 |
234 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9255902 rs747103231 |
234 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs888597192 CA305714730 |
235 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1240047942 CA404448567 |
236 | T>S | No |
ClinGen gnomAD |
|
|
rs746055612 CA9255905 CA404448573 |
237 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255904 rs776977838 |
237 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1034573226 CA305714737 |
240 | L>V | No |
ClinGen Ensembl |
|
|
rs763362627 CA9255908 |
243 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404448621 rs774935127 |
245 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255910 rs774935127 |
245 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255912 rs760331798 |
246 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404448660 rs1461871523 |
249 | C>R | No |
ClinGen gnomAD |
|
|
CA9255931 rs762605332 |
250 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9255932 rs776032874 |
250 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9255933 rs759035385 |
251 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764808677 CA404448672 |
251 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764808677 COSM1717320 CA9255934 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404448675 rs1568457983 |
252 | I>V | No |
ClinGen Ensembl |
|
|
CA404448682 rs1365730226 |
253 | T>A | No |
ClinGen gnomAD |
|
|
rs752278108 CA9255935 |
253 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1262366644 CA404448694 |
255 | P>S | No |
ClinGen TOPMed |
|
|
rs532904394 CA9255937 |
257 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9255936 rs532904394 |
257 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9255939 rs757174646 |
258 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA9255938 rs751538925 |
258 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs551331621 CA9255940 |
262 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9255941 rs566111046 |
264 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404448755 rs1568458033 |
264 | K>N | No |
ClinGen Ensembl |
|
|
CA404448796 rs1450875157 |
270 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404448795 rs1450875157 |
270 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305714953 rs765087072 |
271 | S>C | No |
ClinGen Ensembl |
|
|
rs1188676482 CA404448805 |
271 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1417754548 CA404448807 |
271 | S>R | No |
ClinGen gnomAD |
|
|
CA9255943 rs780493792 |
275 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA404448848 rs1356934064 |
277 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9255945 rs769195760 |
279 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs527321709 CA9255944 |
279 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459927765 CA404448868 |
280 | M>I | No |
ClinGen gnomAD |
|
|
CA404448874 rs1568458106 |
281 | F>S | No |
ClinGen Ensembl |
|
|
rs779385827 CA9255946 |
283 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404448925 rs1433082337 |
288 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9255948 rs772476572 |
290 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA305715009 rs988095549 |
298 | H>R | No |
ClinGen TOPMed |
|
|
rs1199358761 CA404447154 |
300 | F>S | No |
ClinGen TOPMed |
|
|
rs913304283 CA305672492 |
305 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404447249 rs1599577239 |
308 | P>L | No |
ClinGen Ensembl |
|
|
rs1353497994 CA404447254 |
309 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1353497994 CA404447255 |
309 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761612815 CA9255956 |
309 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599577264 CA404447267 |
310 | V>G | No |
ClinGen Ensembl |
|
|
rs1232554263 CA404447328 |
316 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs971986552 CA305672501 |
318 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404447351 rs1221761185 |
318 | R>K | No |
ClinGen gnomAD |
|
|
CA305672505 rs867937891 |
321 | E>K | No |
ClinGen gnomAD |
|
|
rs767363026 CA9255957 |
323 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA305672521 rs551939773 |
327 | L>P | No |
ClinGen 1000Genomes |
|
|
CA305672530 rs981685777 |
329 | G>R | No |
ClinGen Ensembl |
|
|
CA404447537 rs1222855703 |
334 | L>F | No |
ClinGen TOPMed |
|
|
rs750373272 CA9255958 |
335 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346145627 CA404448116 |
336 | F>S | No |
ClinGen gnomAD |
|
|
CA404448144 rs1375550336 |
339 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762401802 CA9255970 |
345 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9255971 rs768312458 |
347 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773989623 CA9255972 |
349 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9255973 rs372917327 |
350 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767333885 CA9255974 |
350 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750380113 CA9255975 |
351 | A>T | No |
ClinGen ExAC |
|
|
rs935537288 CA305674117 |
351 | A>V | No |
ClinGen TOPMed |
|
|
rs1433851272 CA404448237 |
352 | T>A | No |
ClinGen gnomAD |
|
|
rs1287770447 CA404448239 |
352 | T>I | No |
ClinGen gnomAD |
|
|
CA9255976 rs1345270005 |
354 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760662849 CA9255978 |
355 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA404448261 rs1398550789 |
355 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766374913 CA9255979 |
363 | S>F | No |
ClinGen ExAC TOPMed |
|
|
rs1408080301 CA404448331 |
365 | Y>C | No |
ClinGen gnomAD |
|
|
rs546292965 CA9255980 |
367 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9255981 rs369718540 |
368 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1331138643 CA404448350 |
368 | T>P | No |
ClinGen gnomAD |
|
|
CA9255983 rs752957972 |
369 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1234030363 CA404448366 |
370 | W>* | No |
ClinGen gnomAD |
|
|
rs1171523317 CA404448370 |
371 | I>V | No |
ClinGen TOPMed |
|
|
rs373656699 CA404448392 |
374 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs555278994 CA404448393 |
374 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9255986 rs555278994 |
374 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373656699 CA9255985 |
374 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs896462597 CA305674144 |
378 | C>Y | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q6ZS10
1 regional properties for Q6ZS10
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thymidylate kinase-like domain | 11 - 200 | IPR039430 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| fucose binding | Binding to fucose, the pentose 6-deoxygalactose. |
| identical protein binding | Binding to an identical protein or proteins. |
| mannose binding | Binding to mannose, a monosaccharide hexose, stereoisomeric with glucose, that occurs naturally only in polymerized forms called mannans. |
| metal ion binding | Binding to a metal ion. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25031 | Reg3b | Regenerating islet-derived protein 3-beta | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHNLYSITGY | PDPPGTMEEE | EEDDDYENST | PPYKDLPPKP | GTMEEEEEDD | DYENSTPPYK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLPPKPGTME | EEEEDDDYEN | STPPYKDLPP | KPGSSAPPRP | PRAAKETEKP | PLPCKPRNMT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLDLAAVTCP | PPQLAVNLEP | SPLQPSLAAT | PVPWLNQRSG | GPGCCQKRWM | VYLCLLVVTS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LFLGCLGLTV | TLIKYQELME | ELRMLSFQQM | TWRTNMTGMA | GLAGLKHDIA | RVRADTNQSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VELWGLLDCR | RITCPEGWLP | FEGKCYYFSP | STKSWDEARM | FCQENYSHLV | IINSFAEHNF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAKAHGSPRV | YWLGLNDRAQ | EGDWRWLDGS | PVTLSFWEPE | EPNNIHDEDC | ATMNKGGTWN |
| 370 | |||||
| DLSCYKTTYW | ICERKCSC |