Q9H3Q3
PR
Gene name |
GAL3ST2 (GP3ST) |
Protein name |
Galactose-3-O-sulfotransferase 2 |
Names |
Gal3ST-2, Beta-galactose-3-O-sulfotransferase 2, Gal-beta-1, 3-GalNAc 3'-sulfotransferase 2, Glycoprotein beta-Gal 3'-sulfotransferase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64090 |
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 Q9H3Q3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H3Q3-F1 | Predicted | AlphaFoldDB |
434 variants for Q9H3Q3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2222289 rs780773797 |
2 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1247783452 CA351414700 |
2 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351414726 CA2222290 rs12469459 VAR_047060 |
4 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
CA2222291 rs200875314 |
5 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2222293 rs117755329 |
6 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2222295 rs547650981 |
7 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140762902 CA68576955 |
7 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2222297 rs576300819 |
10 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2222296 rs576300819 |
10 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351415889 rs1284259175 |
11 | Y>* | No |
ClinGen gnomAD |
|
|
CA351415914 rs1481599786 |
12 | F>L | No |
ClinGen TOPMed |
|
|
CA2222322 rs137862503 |
13 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2222321 rs137862503 |
13 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2222320 rs762724975 |
13 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222323 rs761560920 |
14 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767237194 CA2222325 COSM244647 |
16 | L>I | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1489815698 CA351415963 |
17 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757856261 CA2222326 |
17 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269281810 CA351415984 |
19 | L>F | No |
ClinGen gnomAD |
|
|
rs760206696 CA2222328 |
21 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2222329 rs374990856 |
21 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753241913 CA2222330 |
25 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956994026 CA68589563 |
26 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs758818045 CA68589574 |
27 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2222332 rs149034294 |
28 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138768829 CA2222333 |
28 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201607018 CA2222335 COSM1531595 |
29 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs746554848 CA2222336 |
30 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2222337 rs756214263 |
33 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351416124 rs1295459787 |
33 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2222339 rs749263868 |
35 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910546249 CA68589604 |
36 | E>G | No |
ClinGen Ensembl |
|
|
CA351416162 rs1359030877 |
36 | E>Q | No |
ClinGen gnomAD |
|
|
rs1234790608 CA351416181 |
37 | L>P | No |
ClinGen TOPMed |
|
|
CA351416175 rs1223438881 |
37 | L>V | No |
ClinGen gnomAD |
|
|
rs1292292054 CA351416203 |
39 | T>I | No |
ClinGen gnomAD |
|
|
CA68589613 rs193179667 |
40 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2222341 rs193179667 |
40 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367571002 CA2222340 |
40 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA68590967 rs1035676826 |
42 | F>S | No |
ClinGen TOPMed |
|
|
rs1035676826 CA351416558 |
42 | F>Y | No |
ClinGen TOPMed |
|
|
rs776230378 CA2222368 |
43 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759028855 CA2222369 |
45 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201051449 CA2222372 |
48 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201051449 CA2222371 |
48 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM4164463 CA351416601 rs138866117 |
49 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138866117 CA2222373 |
49 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs900389592 CA68590977 |
49 | P>S | No |
ClinGen Ensembl |
|
|
rs150851282 CA2222375 |
50 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150851282 CA351416606 |
50 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351416607 rs1413877050 |
51 | V>L | No |
ClinGen TOPMed |
|
|
rs532651883 CA2222376 |
53 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2222377 rs754019993 |
53 | N>S | No |
ClinGen ExAC |
|
|
CA2222378 rs548109179 |
54 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779056964 CA2222379 |
55 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752664663 CA2222380 |
56 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs149986912 CA2222381 |
57 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA68591045 rs1004576024 |
58 | K>T | No |
ClinGen TOPMed |
|
|
rs141048050 CA2222382 |
59 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2222384 rs770669228 |
60 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780795881 CA2222385 |
62 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351416680 rs780795881 |
62 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222386 rs368776648 |
64 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769281840 CA2222387 |
65 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs372108744 COSM167706 RCV000171122 CA346846 |
66 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1411413266 CA351416711 |
67 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1350956069 CA351416707 |
67 | V>M | No |
ClinGen gnomAD |
|
|
CA68591101 rs879425652 |
68 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1034025774 CA68591114 |
68 | L>P | No |
ClinGen Ensembl |
|
|
CA351416721 rs1344810737 |
69 | N>S | No |
ClinGen gnomAD |
|
|
CA2222391 rs760923971 |
71 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2222392 rs766663521 |
72 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351416746 rs1251514641 |
73 | R>C | No |
ClinGen gnomAD |
|
|
rs990453724 CA68591134 |
76 | E>K | No |
ClinGen TOPMed |
|
|
CA351416783 rs1302366452 |
78 | H>Q | No |
ClinGen TOPMed |
|
|
CA351416802 rs1193409190 |
81 | S>F | No |
ClinGen gnomAD |
|
|
rs1423664116 CA351416806 |
82 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2222396 rs374753008 |
82 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222397 rs374753008 |
82 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222398 rs150963577 |
83 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1411036342 CA351416816 |
84 | L>Q | No |
ClinGen TOPMed |
|
|
rs1422904955 CA351416813 |
84 | L>V | No |
ClinGen gnomAD |
|
|
CA351416823 rs1165354045 |
85 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779572448 CA2222404 |
87 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs769371859 CA2222403 |
87 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138748214 CA2222406 |
89 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138748214 CA2222405 |
89 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351416841 rs1343893552 |
89 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2222408 rs761167342 |
90 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222410 rs777073344 |
91 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759839383 CA2222411 |
93 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351416871 rs1253538992 CA351416872 |
94 | Y>* | No |
ClinGen TOPMed |
|
|
rs921278014 CA68591180 |
94 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2222413 rs752877143 |
95 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222412 rs765513688 |
95 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351416904 rs1405724977 |
99 | L>R | No |
ClinGen gnomAD |
|
|
CA2222416 rs376256085 |
100 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222417 rs376256085 |
100 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222420 rs202108971 |
101 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs562597003 CA68591234 |
101 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs562597003 CA2222421 |
101 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA351416918 rs779656965 |
102 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035624896 CA68591259 COSM1207822 |
103 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2222423 rs748868834 |
105 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351416937 rs1357569849 |
105 | G>V | No |
ClinGen gnomAD |
|
|
rs369237199 CA2222425 |
106 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351416954 rs1209854669 |
108 | S>L | No |
ClinGen gnomAD |
|
|
rs1250037475 CA351416955 |
109 | Q>* | No |
ClinGen gnomAD |
|
|
CA351416964 rs1341174558 |
110 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2222428 rs777165040 |
110 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222427 rs374266949 |
110 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1036165259 CA68591289 |
111 | R>C | No |
ClinGen TOPMed |
|
|
CA351416970 rs1036165259 |
111 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351416988 rs1254133112 |
113 | N>K | No |
ClinGen TOPMed |
|
|
CA2222430 rs770183534 |
115 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA351416997 rs1473858083 CA351416999 |
115 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746215431 CA2222429 |
115 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA351417006 rs1467374657 |
116 | C>G | No |
ClinGen TOPMed |
|
|
rs1159776737 CA351417016 |
117 | N>S | No |
ClinGen gnomAD |
|
|
rs377637820 CA2222431 |
118 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763155519 CA2222433 |
119 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309450617 CA351417051 |
122 | N>S | No |
ClinGen TOPMed |
|
|
CA351417067 rs1340703846 |
125 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1340703846 CA351417066 |
125 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1002627197 CA68591308 |
125 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351417070 rs1449717488 |
125 | Q>L | No |
ClinGen gnomAD |
|
|
rs1209239007 CA351417218 |
127 | Q>P | No |
ClinGen gnomAD |
|
|
CA68592715 rs922557666 |
128 | K>E | No |
ClinGen TOPMed |
|
|
rs933976341 CA68592725 |
128 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2222460 rs753598792 |
130 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222461 rs759139927 |
131 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2222462 rs764892838 |
132 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA351417269 rs1165954778 |
132 | N>S | No |
ClinGen gnomAD |
|
|
CA2222463 rs752191205 |
133 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383848268 CA351417281 |
133 | D>V | No |
ClinGen gnomAD |
|
|
rs757981051 CA2222464 |
134 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796449136 CA68592778 |
137 | F>Y | No |
ClinGen Ensembl |
|
|
rs1380984867 CA351417355 |
139 | I>S | No |
ClinGen gnomAD |
|
|
rs1380984867 CA351417354 |
139 | I>T | No |
ClinGen gnomAD |
|
|
rs756622639 CA2222468 |
143 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141828605 CA2222469 |
143 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2222467 rs756622639 |
143 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351417430 rs1270182726 |
146 | Q>R | No |
ClinGen TOPMed |
|
|
rs1243799204 CA351417441 |
147 | L>P | No |
ClinGen gnomAD |
|
|
CA68592842 rs371281574 |
148 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222471 rs371281574 |
148 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351417446 rs371281574 |
148 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748292915 CA2222474 |
150 | S>F | No |
ClinGen ExAC |
|
|
CA2222476 rs141012068 |
151 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1284834140 CA351417475 |
151 | F>L | No |
ClinGen TOPMed |
|
|
rs1190172381 CA351417486 |
152 | I>L | No |
ClinGen gnomAD |
|
|
CA351417506 rs374288085 |
153 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2222477 rs139344622 |
153 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374006049 CA2222478 |
155 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770859163 CA2222479 |
156 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1451572275 CA351417547 |
157 | Y>* | No |
ClinGen TOPMed |
|
|
rs376239454 CA2222480 |
158 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA68592893 rs939445638 |
158 | A>V | No |
ClinGen Ensembl |
|
|
rs1159039601 CA351417568 |
160 | A>T | No |
ClinGen gnomAD |
|
|
rs1437354108 CA351417588 |
161 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759350746 CA2222481 |
162 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2222483 rs62620233 |
164 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1012638602 CA351417627 |
165 | P>L | No |
ClinGen gnomAD |
|
|
rs1012638602 CA68592928 |
165 | P>R | No |
ClinGen gnomAD |
|
|
CA2222484 rs752388528 |
166 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553324823 CA2222485 |
168 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351417666 rs763705984 |
169 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2222486 rs763705984 COSM1406991 |
169 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1329715121 CA351417695 |
172 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1329715121 CA351417697 |
172 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2222488 rs756712247 |
173 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2222491 rs143165919 |
174 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143165919 CA2222490 |
174 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290721461 CA351417719 |
175 | R>W | No |
ClinGen TOPMed |
|
|
rs748382864 CA2222493 |
177 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772215548 CA2222495 |
178 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA351417759 rs1182168063 |
179 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351417771 rs1559419579 |
180 | D>N | No |
ClinGen Ensembl |
|
|
CA68593008 rs1000152829 |
181 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1294350837 CA351417794 |
181 | S>R | No |
ClinGen Ensembl |
|
|
CA2222496 rs777858335 |
182 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370282314 CA2222497 |
182 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370282314 CA2222498 |
182 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351417826 rs1466780364 |
184 | L>V | No |
ClinGen gnomAD |
|
|
CA2222500 rs542497377 |
185 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs956094008 CA68593077 |
187 | V>D | No |
ClinGen Ensembl |
|
|
CA351417875 rs1381146703 |
187 | V>I | No |
ClinGen gnomAD |
|
|
CA2222502 rs373647544 |
189 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1207826 CA2222501 rs769648241 |
189 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762725454 CA2222504 |
190 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1553617137 CA2222506 |
190 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs762725454 CA2222503 |
190 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200873876 CA2222508 |
192 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754355914 CA2222511 |
193 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311076838 CA351418001 |
193 | M>K | No |
ClinGen gnomAD |
|
|
CA2222510 rs376122135 CA351417996 |
193 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311076838 CA351418003 |
193 | M>T | No |
ClinGen gnomAD |
|
|
CA2222509 rs376122135 |
193 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184043096 CA2222512 |
194 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA68593133 rs985498882 |
194 | W>R | No |
ClinGen TOPMed |
|
|
CA2222514 rs370045209 |
195 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222513 rs546441941 |
195 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351418099 rs1575369489 |
197 | F>L | No |
ClinGen Ensembl |
|
|
CA2222515 rs758638255 |
198 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351418144 rs1559419643 |
200 | D>N | No |
ClinGen Ensembl |
|
|
rs747129523 CA2222517 |
201 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351418172 rs1178251286 |
201 | P>R | No |
ClinGen gnomAD |
|
|
CA351418207 rs781078700 |
203 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA2222519 rs781078700 |
203 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1307207152 CA351418201 |
203 | A>T | No |
ClinGen gnomAD |
|
|
CA68593179 rs962930989 |
204 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769582126 CA2222522 |
205 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745825645 CA2222520 |
205 | C>F | No |
ClinGen ExAC |
|
|
rs769582126 CA351418257 |
205 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351418282 rs1559419664 |
206 | E>D | No |
ClinGen Ensembl |
|
|
rs1219321974 CA351418294 |
207 | E>G | No |
ClinGen gnomAD |
|
|
rs200606493 CA2222523 |
208 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372941065 CA351418305 |
208 | G>C | No |
ClinGen TOPMed |
|
|
CA2222524 rs373797728 |
209 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222525 rs768464509 |
210 | V>E | No |
ClinGen ExAC |
|
|
rs570080331 CA2222527 |
211 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570080331 CA2222526 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351418436 rs1484237977 |
212 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351418474 rs1246650059 |
213 | R>G | No |
ClinGen gnomAD |
|
|
CA351418482 rs1489053896 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2222530 rs537109339 |
214 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375836718 CA2222533 |
216 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351418547 rs1483342531 |
216 | E>K | No |
ClinGen TOPMed |
|
|
CA2222534 rs140847377 |
217 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2222536 rs374256812 |
219 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351418658 rs1321277043 |
220 | R>P | No |
ClinGen gnomAD |
|
|
CA68593254 rs1056653034 |
221 | F>I | No |
ClinGen Ensembl |
|
|
rs1349233002 CA351418680 |
221 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1448738949 CA351418697 |
222 | R>Q | No |
ClinGen gnomAD |
|
|
rs368684977 CA2222537 |
224 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1294822435 CA351418755 |
225 | L>P | No |
ClinGen gnomAD |
|
|
rs1362354377 CA351418768 |
226 | I>S | No |
ClinGen gnomAD |
|
|
COSM1235913 CA2222538 rs775193067 |
228 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1322878347 CA351418842 |
230 | L>P | No |
ClinGen gnomAD |
|
|
rs1289566778 CA351418830 |
230 | L>V | No |
ClinGen gnomAD |
|
|
rs1240472833 CA351418864 |
231 | D>G | No |
ClinGen gnomAD |
|
|
CA351418846 rs1297036645 |
231 | D>Y | No |
ClinGen TOPMed |
|
|
CA2222540 rs780111698 |
232 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2222539 rs756172955 |
232 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351418885 rs1189523066 |
232 | E>V | No |
ClinGen gnomAD |
|
|
rs903888090 CA68593329 |
233 | S>P | No |
ClinGen Ensembl |
|
|
CA351418900 rs1442940687 |
233 | S>Y | No |
ClinGen gnomAD |
|
|
CA2222543 rs778789252 |
235 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351418968 rs1183000359 |
238 | R>Q | No |
ClinGen TOPMed |
|
|
CA2222544 rs747838177 |
238 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA68593381 rs998396446 |
240 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA68593372 rs891728138 |
240 | R>W | No |
ClinGen Ensembl |
|
|
rs1284026245 CA351418991 |
241 | L>P | No |
ClinGen gnomAD |
|
|
CA351418994 rs1380310801 |
242 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771580370 CA2222545 |
242 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771580370 CA351419002 |
242 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953890062 CA68593395 |
243 | W>G | No |
ClinGen gnomAD |
|
|
rs1209450044 CA351419014 |
243 | W>L | No |
ClinGen gnomAD |
|
|
CA351419026 rs1270051743 |
244 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2222546 rs772800778 |
244 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2142092 CA68593411 |
247 | D>N | No |
ClinGen Ensembl |
|
|
rs2142091 CA68593416 |
248 | V>M | No |
ClinGen Ensembl |
|
|
CA351419167 rs760080900 |
255 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760080900 CA2222547 |
255 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68593426 rs1006637263 |
256 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351419169 rs1006637263 |
256 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs887456512 CA68593443 |
258 | A>G | No |
ClinGen TOPMed |
|
|
rs1047354739 CA68593434 |
258 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2222548 rs770324793 |
261 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs775970290 CA2222549 |
262 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222550 rs200028725 |
262 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs918816978 CA68593481 |
263 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs918816978 CA351419252 |
263 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351419259 rs1350449770 |
264 | L>Q | No |
ClinGen gnomAD |
|
|
rs1229522880 CA351419273 |
265 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1342950604 CA351419295 |
267 | E>G | No |
ClinGen gnomAD |
|
|
rs961001870 CA68593482 |
267 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764447947 CA2222551 |
268 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279618052 CA351419314 |
269 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1212790145 CA351419336 |
271 | R>H | No |
ClinGen gnomAD |
|
|
rs1472253054 CA351419358 |
273 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351419356 rs1472253054 |
273 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs992702018 CA68593509 |
273 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2222552 rs751830915 |
274 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA351419381 rs1171427924 |
275 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA351419389 CA351419390 rs1402480950 |
275 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA68593536 rs916794212 |
275 | W>R | No |
ClinGen gnomAD |
|
|
CA351419383 rs1171427924 |
275 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351419408 rs1415784625 |
277 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA68593537 rs867009505 |
277 | A>V | No |
ClinGen Ensembl |
|
|
rs1306591301 CA351419419 |
278 | L>M | No |
ClinGen gnomAD |
|
|
rs1213480034 CA351419426 |
278 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs996999773 CA68593551 |
280 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351419463 rs1316621029 |
281 | R>P | No |
ClinGen gnomAD |
|
|
rs1258469645 CA351419475 |
282 | L>P | No |
ClinGen TOPMed |
|
|
CA2222554 CA351419490 rs767616414 |
283 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351419486 rs1322862854 |
283 | Y>C | No |
ClinGen TOPMed |
|
|
rs1237620124 CA351419481 |
283 | Y>H | No |
ClinGen TOPMed |
|
|
CA351419495 rs1310370512 |
284 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA351419494 rs1310370512 |
284 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs550417478 CA2222556 |
285 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351419534 rs1275471371 |
286 | F>L | No |
ClinGen gnomAD |
|
|
CA68593562 rs988400564 |
287 | N>I | No |
ClinGen TOPMed |
|
|
rs935294920 CA68593565 |
288 | R>H | No |
ClinGen gnomAD |
|
|
rs935294920 CA68593566 |
288 | R>P | No |
ClinGen gnomAD |
|
|
CA351419574 rs568825127 |
290 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568825127 CA2222557 |
290 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272261592 CA351419593 |
291 | W>C | No |
ClinGen gnomAD |
|
|
rs1370266908 CA351419617 |
293 | Q>H | No |
ClinGen TOPMed |
|
|
CA351419612 rs1458528601 |
293 | Q>P | No |
ClinGen TOPMed |
|
|
CA351419632 rs1165440387 |
295 | R>C | No |
ClinGen TOPMed |
|
|
rs1482603655 CA351419636 |
295 | R>H | No |
ClinGen gnomAD |
|
|
CA351419650 rs1252597303 |
297 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs867516237 CA351419684 |
299 | G>E | No |
ClinGen TOPMed |
|
|
CA351419676 rs968075892 CA68593583 |
299 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA68593601 rs867516237 |
299 | G>V | No |
ClinGen TOPMed |
|
|
rs1259156837 CA351419689 |
300 | P>S | No |
ClinGen TOPMed |
|
|
rs891670469 CA68593617 |
301 | R>L | No |
ClinGen TOPMed |
|
|
rs753837152 CA2222560 |
305 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753837152 CA2222559 |
305 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926716925 CA68593649 |
306 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs747845249 CA2222562 |
310 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs771805845 CA2222563 |
311 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324337637 CA351419821 |
312 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777258798 CA2222564 |
312 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA351419829 rs1433252490 |
313 | R>Q | No |
ClinGen gnomAD |
|
|
CA68593709 rs1051371171 |
314 | R>K | No |
ClinGen Ensembl |
|
|
CA351419859 rs1297127576 |
316 | E>* | No |
ClinGen gnomAD |
|
|
CA351419864 rs1387535067 |
316 | E>V | No |
ClinGen TOPMed |
|
|
CA68593720 rs991927028 |
318 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351419897 rs1301321714 |
319 | S>G | No |
ClinGen TOPMed |
|
|
CA351419932 rs1354197125 |
321 | C>* | No |
ClinGen gnomAD |
|
|
rs1252814383 CA351419926 |
321 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs539216010 CA68593737 |
322 | L>R | No |
ClinGen 1000Genomes |
|
|
CA351419937 rs746595857 |
322 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351419966 rs1469404689 |
324 | D>V | No |
ClinGen gnomAD |
|
|
CA2222567 rs78253117 |
325 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351419990 rs1449655612 |
326 | G>V | No |
ClinGen gnomAD |
|
|
CA351420005 rs1367064656 |
327 | A>G | No |
ClinGen gnomAD |
|
|
CA351420007 rs1367064656 |
327 | A>V | No |
ClinGen gnomAD |
|
|
CA351420011 rs1433386502 |
328 | L>F | No |
ClinGen TOPMed |
|
|
CA2222570 rs774831984 |
329 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA351420023 rs774831984 |
329 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2222571 rs371452957 |
330 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351420059 rs1455726008 |
331 | H>R | No |
ClinGen gnomAD |
|
|
CA351420051 rs1276050413 |
331 | H>Y | No |
ClinGen TOPMed |
|
|
rs1025316588 CA68593835 |
332 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351420073 rs1025316588 |
332 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2222573 rs750600154 |
333 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961245190 CA68593853 |
333 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351420103 rs1404351721 |
334 | I>M | No |
ClinGen TOPMed |
|
|
CA2222576 rs753925044 |
334 | I>T | No |
ClinGen ExAC |
|
|
rs766568127 CA2222575 |
334 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222577 rs754983719 |
335 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs535117080 CA2222578 |
336 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570896928 CA68593907 |
337 | P>L | No |
ClinGen TOPMed |
|
|
CA351420140 rs570896928 |
337 | P>Q | No |
ClinGen TOPMed |
|
|
rs1452455109 CA351420149 |
338 | R>C | No |
ClinGen gnomAD |
|
|
rs1266882923 CA351420152 |
338 | R>H | No |
ClinGen gnomAD |
|
|
rs1266882923 CA351420155 |
338 | R>L | No |
ClinGen gnomAD |
|
|
CA68593924 rs369162002 |
340 | R>H | No |
ClinGen ESP TOPMed |
|
|
CA2222582 rs140234552 |
341 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351420199 rs1188612244 |
342 | Y>C | No |
ClinGen gnomAD |
|
|
CA2222583 rs756864716 |
344 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs372205645 CA2222584 |
345 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA68593945 rs553579270 |
345 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs145527407 CA2222587 |
347 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222586 rs145527407 |
347 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351420301 rs1301299704 |
348 | D>H | No |
ClinGen gnomAD |
|
|
rs1401691188 CA351420352 |
350 | L>V | No |
ClinGen gnomAD |
|
|
CA351420393 rs375484658 CA68593984 |
352 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs748607374 CA2222590 |
352 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs772338973 CA2222591 |
353 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351420403 rs1226471572 |
353 | N>S | No |
ClinGen gnomAD |
|
|
rs1325947362 CA351420422 COSM3798836 |
355 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1034112828 CA68593998 |
356 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351420458 rs1253896776 |
357 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417083812 CA351420480 |
359 | D>Y | No |
ClinGen gnomAD |
|
|
rs759656886 CA2222597 |
360 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs752562959 CA2222600 |
363 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351420586 rs752562959 |
363 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351420615 rs1173958238 |
364 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351420607 rs1559420156 |
364 | G>S | No |
ClinGen Ensembl |
|
|
rs1051053088 CA68594018 |
367 | Q>* | No |
ClinGen Ensembl |
|
|
rs1408024177 CA351420680 |
367 | Q>R | No |
ClinGen TOPMed |
|
|
CA351420694 rs1173865719 |
368 | R>T | No |
ClinGen TOPMed |
|
|
CA2222603 rs763827627 |
369 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351420719 CA351420716 rs950550096 |
370 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA68594026 rs950550096 |
370 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351420751 rs1377016927 |
371 | M>I | No |
ClinGen gnomAD |
|
|
CA351420759 rs1407992839 |
372 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1307324679 CA351420795 |
374 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2222606 rs756952557 |
377 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298508687 CA351420841 |
377 | M>R | No |
ClinGen gnomAD |
|
|
CA351420837 rs756952557 |
377 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311276504 CA351420855 |
378 | A>D | No |
ClinGen gnomAD |
|
|
CA68594038 rs889601614 |
378 | A>T | No |
ClinGen Ensembl |
|
|
rs1241650122 CA351420878 |
380 | L>Q | No |
ClinGen TOPMed |
|
|
CA351420889 rs755568422 |
381 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222608 rs745452504 |
381 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA351420881 rs1233494546 |
381 | Y>N | No |
ClinGen gnomAD |
|
|
CA2222610 rs779561159 |
382 | A>T | No |
ClinGen ExAC |
|
|
CA2222611 rs150107870 |
383 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253167129 CA351420917 |
384 | Q>* | No |
ClinGen gnomAD |
|
|
rs1481882280 CA351420950 |
386 | P>A | No |
ClinGen gnomAD |
|
|
rs373185622 CA2222613 |
386 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2222612 rs373185622 |
386 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376663386 CA2222615 |
388 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866723965 CA68594102 |
389 | P>L | No |
ClinGen TOPMed |
|
|
rs1396719455 CA351420991 |
389 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs993881145 CA68594111 |
391 | K>R | No |
ClinGen TOPMed |
|
|
CA351421020 rs993881145 |
391 | K>T | No |
ClinGen TOPMed |
|
|
CA68594127 rs1025722734 |
392 | N>K | No |
ClinGen Ensembl |
|
|
CA351421067 rs1427596228 |
394 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351421066 rs1427596228 |
394 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776987538 CA351421120 |
399 | A>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2222616 rs776987538 |
399 | A>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759718543 CA2222617 |
399 | A>W | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H3Q3
No regional properties for Q9H3Q3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H3Q3 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| galactose 3-O-sulfotransferase activity | Catalysis of the reaction: N-acetyllactosamine + 3'-phosphoadenosine 5'-phosphosulfate = 3-sulfo-N-acetyllactosamine + adenosine 3',5'-bisphosphate. N-acetyllactosamine residues are found in a number of different carbohydrate types. N-acetyllactosamine can also be written as Gal-beta-(1,4)-GlcNAc. |
| galactosylceramide sulfotransferase activity | Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + a galactosylceramide = adenosine 3',5'-bisphosphate + a galactosylceramidesulfate. |
| sulfotransferase activity | Catalysis of the transfer of a sulfate group from 3'-phosphoadenosine 5'-phosphosulfate to the hydroxyl group of an acceptor, producing the sulfated derivative and 3'-phosphoadenosine 5'-phosphate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| glycolipid biosynthetic process | The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). |
| glycoprotein biosynthetic process | The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMSMLGGLQR | YFRVILLLLL | ALTLLLLAGF | LHSDLELDTP | LFGGQAEGPP | VTNIMFLKTH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KTASSTVLNI | LYRFAETHNL | SVALPAGSRV | HLGYPWLFLA | RYVEGVGSQQ | RFNIMCNHLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FNLPQVQKVM | PNDTFYFSIL | RNPVFQLESS | FIYYKTYAPA | FRGAPSLDAF | LASPRTFYND |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SRHLRNVYAK | NNMWFDFGFD | PNAQCEEGYV | RARIAEVERR | FRLVLIAEHL | DESLVLLRRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LRWALDDVVA | FRLNSRSARS | VARLSPETRE | RARSWCALDW | RLYEHFNRTL | WAQLRAELGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RRLRGEVERL | RARRRELASL | CLQDGGALKN | HTQIRDPRLR | PYQSGKADIL | GYNLRPGLDN |
| 370 | 380 | 390 | |||
| QTLGVCQRLV | MPELQYMARL | YALQFPEKPL | KNIPFLGA |