Q8NHY0
PR
Gene name |
B4GALNT2 (GALGT2) |
Protein name |
Beta-1,4 N-acetylgalactosaminyltransferase 2 |
Names |
Sd(a) beta-1,4-GalNAc transferase, UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:124872 |
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 Q8NHY0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NHY0-F1 | Predicted | AlphaFoldDB |
511 variants for Q8NHY0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001796332 RCV000958725 VAR_086500 CA8637123 rs61743617 |
523 | R>W | BLOOD GROUP, SID SYSTEM found in individuals with Sd(a-) phenotype [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs375918507 CA8636611 |
2 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8636612 rs753893540 |
3 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA400135066 rs1472606004 |
3 | S>R | No |
ClinGen gnomAD |
|
|
CA8636613 rs762073930 |
4 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs188616624 CA8636614 |
5 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8636615 rs577387342 |
5 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577387342 CA400135092 |
5 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1392615975 CA400135135 |
8 | V>L | No |
ClinGen gnomAD |
|
|
rs780338935 CA8636617 |
9 | G>A | No |
ClinGen ExAC TOPMed |
|
|
rs780338935 CA8636619 |
9 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1403535815 CA400135150 |
9 | G>R | No |
ClinGen gnomAD |
|
|
CA400135160 rs780338935 |
9 | G>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 12 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8636621 rs144943249 |
13 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400135227 rs1314007985 |
13 | V>M | No |
ClinGen gnomAD |
|
|
CA400135271 rs1350540798 |
15 | V>G | No |
ClinGen gnomAD |
|
|
rs778536180 CA8636624 |
15 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636625 rs745583103 |
16 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs745583103 CA400135282 |
16 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8636626 rs745583103 |
16 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs563393985 CA291394597 |
17 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs775192171 CA8636627 |
18 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs373518795 CA8636629 |
19 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8636631 rs761987918 |
20 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776711431 CA8636630 |
20 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1044989682 CA291394617 |
22 | C>R | No |
ClinGen TOPMed |
|
|
rs765479172 CA400135392 |
24 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765479172 CA8636632 |
24 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977857537 CA291394642 |
26 | T>M | No |
ClinGen TOPMed |
|
|
CA400135455 rs1241451755 |
27 | P>L | No |
ClinGen gnomAD |
|
|
rs1371128580 CA400135439 |
27 | P>S | No |
ClinGen gnomAD |
|
|
rs1298984128 CA400135470 |
28 | E>G | No |
ClinGen TOPMed |
|
|
rs117575112 CA8636634 |
28 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766727016 CA8636635 |
29 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA400135491 rs1315050021 |
29 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1293179998 CA400135544 |
32 | R>L | No |
ClinGen TOPMed |
|
|
CA8636636 rs147827612 |
34 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400135588 rs755456102 |
36 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA400135585 rs1189305873 |
36 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8636637 rs755456102 |
36 | A>V | Variant assessed as Somatic; 5.491e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA400135602 rs1298771715 |
37 | G>V | No |
ClinGen gnomAD |
|
|
rs767915444 CA8636639 |
38 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1345014383 CA400135615 |
38 | F>Y | No |
ClinGen gnomAD |
|
|
rs1249123168 CA400135628 |
39 | G>E | No |
ClinGen gnomAD |
|
|
rs1450809170 CA400135619 |
39 | G>R | No |
ClinGen TOPMed |
|
|
CA8636640 rs7207403 VAR_049238 |
40 | A>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8636641 rs372599300 |
42 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1257782049 CA400135688 |
43 | L>S | No |
ClinGen gnomAD |
|
|
rs1488626858 CA400135695 |
44 | E>K | No |
ClinGen TOPMed |
|
|
CA400135764 rs1341812825 |
48 | A>T | No |
ClinGen TOPMed |
|
|
CA8636644 rs745491444 |
49 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA400135818 rs1299009557 |
51 | A>T | No |
ClinGen TOPMed |
|
|
CA8636645 rs758014560 |
51 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA400135846 rs1372601084 |
52 | W>* | No |
ClinGen gnomAD |
|
|
CA400135834 rs1168150888 |
52 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576658131 CA8636646 |
53 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1466581928 CA400135852 |
53 | G>S | No |
ClinGen gnomAD |
|
|
CA400135876 rs1329444800 |
54 | P>L | No |
ClinGen TOPMed |
|
|
rs1452178015 CA400135892 |
55 | F>C | No |
ClinGen gnomAD |
|
|
CA8636647 rs376859051 |
55 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8636648 rs768568890 |
56 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636649 rs565594340 |
57 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs891280469 CA291394754 |
58 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 58 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008844890 CA291394766 |
59 | G>R | No |
ClinGen gnomAD |
|
|
rs1022036028 CA291394775 |
61 | S>T | No |
ClinGen TOPMed |
|
|
rs1321040859 CA400136030 |
63 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8636652 rs527840701 |
63 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400136044 rs1463426852 |
64 | Q>* | No |
ClinGen TOPMed |
|
|
rs1598192533 CA400136060 |
65 | G>S | No |
ClinGen Ensembl |
|
|
rs182303406 CA8636667 |
66 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777942057 CA8636669 |
67 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771110805 CA8636671 |
72 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774426584 CA8636672 |
73 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 76 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA291399648 CA8636674 rs577341474 |
77 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375145187 CA400138105 |
79 | L>P | No |
ClinGen gnomAD |
|
|
CA291399649 rs1029709740 |
81 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8636676 rs781083107 |
82 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA291399651 rs372936734 |
82 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs141405800 CA8636677 |
84 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141405800 CA400138132 |
84 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289459937 CA400138156 |
87 | M>I | No |
ClinGen gnomAD |
|
|
CA400138164 rs376215485 |
88 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8636678 rs749866828 |
88 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs143591824 CA8636680 |
89 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175036753 CA400138177 |
90 | S>R | No |
ClinGen gnomAD |
|
|
rs751147633 CA8636681 |
91 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172860876 CA400138213 |
95 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400138220 rs1598198976 |
96 | V>G | No |
ClinGen Ensembl |
|
|
CA400138221 rs1425874367 |
97 | F>L | No |
ClinGen gnomAD |
|
|
CA8636683 rs754699069 |
98 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365560245 CA400138238 |
99 | S>G | No |
ClinGen gnomAD |
|
|
rs1430938343 CA400138241 |
99 | S>I | No |
ClinGen gnomAD |
|
|
CA400138267 rs781092842 |
103 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8636684 rs781092842 |
103 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA8636686 rs752554373 |
105 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA400138293 rs1567856092 |
107 | P>S | No |
ClinGen Ensembl |
|
|
rs34044460 CA400138299 |
108 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8636687 rs756049071 |
108 | A>S | No |
ClinGen ExAC |
|
|
CA8636688 rs34044460 |
108 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202077332 CA8636690 COSM1580551 |
109 | P>L | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs202077332 CA400138305 |
109 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973359876 CA291399698 |
111 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs150414763 CA8636694 |
113 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8636693 rs772307521 |
113 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA400138334 rs1204121064 |
114 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400138360 rs1238229203 |
118 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762429913 CA8636698 |
121 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762429913 CA400138378 |
121 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765775372 CA8636699 |
121 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636700 rs751110425 |
122 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383829432 CA400138388 |
123 | R>K | No |
ClinGen TOPMed |
|
|
CA8636701 rs759054177 CA400138399 |
124 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767284201 CA8636702 |
125 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8636703 rs752466503 |
126 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8636704 rs755961253 |
128 | Y>C | No |
ClinGen ExAC |
|
|
CA400138418 rs1245536044 |
128 | Y>N | No |
ClinGen TOPMed |
|
|
CA8636707 rs147112900 |
129 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8636706 rs147112900 |
129 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282586649 CA400138470 |
134 | F>L | No |
ClinGen gnomAD |
|
|
CA8636733 rs755223890 |
134 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8636734 rs201539211 |
135 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 137 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287730705 CA400138503 |
138 | Q>H | No |
ClinGen TOPMed |
|
|
rs371713741 CA8636737 |
140 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8636738 rs773758575 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749860075 CA400138539 |
143 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749860075 CA8636739 |
143 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771679760 CA8636740 |
144 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400138544 rs1472706306 |
144 | N>S | No |
ClinGen gnomAD |
|
|
rs765171809 CA291400033 |
146 | E>K | No |
ClinGen Ensembl |
|
|
rs1400054220 CA400138569 |
147 | Q>H | No |
ClinGen gnomAD |
|
|
CA400138566 rs1598199709 |
147 | Q>R | No |
ClinGen Ensembl |
|
|
rs1342389128 CA400138605 |
152 | F>L | No |
ClinGen TOPMed |
|
|
CA400138599 rs1431604162 |
152 | F>L | No |
ClinGen TOPMed |
|
|
CA400138608 rs1367559605 |
153 | Q>* | No |
ClinGen gnomAD |
|
|
CA291400037 rs201550101 |
154 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1282697924 CA400138624 |
155 | A>V | No |
ClinGen gnomAD |
|
|
CA8636742 rs760358504 |
156 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA8636743 rs763824485 |
157 | G>D | No |
ClinGen ExAC |
|
|
CA8636744 rs776219183 |
159 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764997159 CA8636746 |
160 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400138835 rs750335597 |
161 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8636747 rs750335597 |
161 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs144833149 CA8636749 |
163 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400138847 COSM3819888 rs1229938869 |
163 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs144833149 CA8636748 |
163 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755097459 CA8636752 |
166 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8636753 rs781473343 |
166 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457234580 CA400138904 |
167 | R>W | No |
ClinGen Ensembl |
|
|
CA8636756 rs565993034 |
168 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636757 rs749775812 |
169 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400138931 rs749775812 |
169 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387060171 CA400138935 |
169 | Q>R | No |
ClinGen gnomAD |
|
|
rs1224283162 CA400138975 |
172 | F>L | No |
ClinGen TOPMed |
|
|
rs1422657480 CA400138991 |
173 | E>* | No |
ClinGen gnomAD |
|
|
CA400138989 rs1422657480 |
173 | E>K | No |
ClinGen gnomAD |
|
|
CA400139026 rs1302707296 |
175 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8636758 rs771591485 |
176 | Q>* | No |
ClinGen ExAC |
|
|
rs374155308 CA8636760 |
176 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374155308 CA8636759 |
176 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148596818 CA8636761 |
177 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291400104 rs200147969 |
178 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8636783 rs772932925 |
180 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs769352483 CA8636782 |
180 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636784 rs762740322 |
181 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA400140900 rs1459777342 |
182 | P>H | No |
ClinGen gnomAD |
|
|
CA400140910 rs1459777342 |
182 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770770615 CA8636785 |
183 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8636786 rs34942161 |
183 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8636787 rs759432954 |
184 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA400140964 rs1372507651 |
186 | P>L | No |
ClinGen gnomAD |
|
|
rs372151326 CA8636788 |
187 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA400141000 rs1245046983 |
188 | L>R | No |
ClinGen gnomAD |
|
|
rs1271855954 CA400140988 |
188 | L>V | No |
ClinGen TOPMed |
|
|
rs1344821613 CA400141020 |
189 | V>D | No |
ClinGen TOPMed |
|
|
rs375362269 CA8636791 |
189 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1301664863 CA400141066 |
191 | P>L | No |
ClinGen TOPMed |
|
|
rs541253891 CA8636792 |
191 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400141102 rs1381015246 |
192 | N>S | No |
ClinGen gnomAD |
|
|
rs1381015246 CA400141095 |
192 | N>T | No |
ClinGen gnomAD |
|
|
rs1045020261 CA291409496 |
192 | N>Y | No |
ClinGen gnomAD |
|
|
CA291409497 rs372388063 |
194 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA400141147 rs372388063 |
194 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1245373026 CA400141166 |
195 | F>C | No |
ClinGen gnomAD |
|
|
CA8636795 rs140362515 |
196 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291409504 rs140362515 |
196 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291409514 rs937592145 |
200 | H>P | No |
ClinGen TOPMed |
|
|
rs780701501 CA400141275 |
201 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs780701501 CA8636799 |
201 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA400141329 rs1598207688 |
204 | V>G | No |
ClinGen Ensembl |
|
|
rs1196237667 CA400141320 |
204 | V>M | No |
ClinGen Ensembl |
|
|
CA8636801 CA400141345 rs755697287 |
205 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA400141332 rs1480781762 |
205 | M>V | No |
ClinGen gnomAD |
|
|
rs777391089 CA400141350 |
206 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636802 rs777391089 |
206 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400141370 rs1567861432 |
207 | L>R | No |
ClinGen Ensembl |
|
|
rs1192779975 CA400141376 |
208 | H>N | No |
ClinGen TOPMed |
|
|
rs770682750 CA8636804 |
209 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291409565 rs895786543 |
210 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs745772231 CA8636806 |
212 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs892333271 CA291409567 |
213 | P>L | No |
ClinGen gnomAD |
|
|
CA8636827 rs747011773 |
216 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA400142277 rs1567862902 |
217 | F>Y | No |
ClinGen Ensembl |
|
|
rs1278831761 CA400142285 |
218 | E>K | No |
ClinGen TOPMed |
|
|
rs1049865857 CA291411936 |
219 | G>A | No |
ClinGen gnomAD |
|
|
CA8636829 rs776879040 |
221 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs560373909 CA400142336 |
222 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs560373909 CA8636830 |
222 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140280086 CA8636833 |
223 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400142359 rs149941656 |
224 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8636836 rs149941656 COSM139066 |
224 | V>I | skin prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 224 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400142390 rs1330427089 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
rs1441693485 CA400142400 |
226 | E>K | No |
ClinGen TOPMed |
|
|
rs1218282959 CA400142903 |
227 | V>I | No |
ClinGen gnomAD |
|
|
rs1325898409 CA400142909 |
228 | T>P | No |
ClinGen gnomAD |
|
|
CA8636853 rs769982513 |
234 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769982513 CA400142947 |
234 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773292459 CA8636854 |
236 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8636855 rs773292459 |
236 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1218485716 CA400142967 |
238 | T>N | No |
ClinGen gnomAD |
|
|
CA400142965 rs771159365 |
238 | T>P | No |
ClinGen ExAC |
|
|
rs771159365 CA8636856 |
238 | T>S | No |
ClinGen ExAC |
|
|
rs963033214 CA291413714 |
241 | D>V | No |
ClinGen gnomAD |
|
|
rs1192266799 CA400143002 |
242 | V>I | No |
ClinGen gnomAD |
|
|
CA400143047 rs1229752630 |
245 | S>G | No |
ClinGen gnomAD |
|
|
rs768014101 CA8636859 |
245 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768014101 CA400143052 |
245 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400143072 rs1268175922 |
246 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400143086 rs1598212029 |
247 | V>A | No |
ClinGen Ensembl |
|
|
CA400143109 rs1401151535 |
249 | G>R | No |
ClinGen gnomAD |
|
|
rs750940885 CA291413717 |
251 | G>A | No |
ClinGen Ensembl |
|
|
rs1401232848 CA400143134 |
251 | G>C | No |
ClinGen gnomAD |
|
|
CA400143152 rs1176391617 |
252 | Q>R | No |
ClinGen TOPMed |
|
|
CA400143210 rs1567863973 |
256 | I>L | No |
ClinGen Ensembl |
|
|
CA8636861 rs761295584 |
259 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1303822422 CA400143281 |
260 | S>I | No |
ClinGen gnomAD |
|
|
CA8636865 rs779668398 |
262 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8636864 rs750016761 |
262 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751415856 CA8636868 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8636869 rs754898668 |
269 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM3819889 rs781272860 CA8636870 |
270 | Q>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA291413765 rs200502885 |
271 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748155124 CA8636871 |
271 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs971495392 CA291413775 |
272 | V>A | No |
ClinGen TOPMed |
|
|
CA8636873 COSM1580552 rs140662851 |
272 | V>M | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs749420906 CA8636874 |
273 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA400143422 rs1392890638 |
274 | Y>N | No |
ClinGen TOPMed |
|
|
CA291413796 rs145087753 |
275 | T>I | No |
ClinGen ESP gnomAD |
|
|
CA291413798 rs771196540 |
277 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636875 rs771196540 |
277 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636877 CA8636878 rs746224531 |
278 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8636879 rs775950015 |
278 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA400143520 rs1323092972 |
281 | H>Y | No |
ClinGen gnomAD |
|
|
CA400143539 rs1567864067 |
282 | Q>E | No |
ClinGen Ensembl |
|
|
rs1376749268 CA400143595 |
285 | D>H | No |
ClinGen TOPMed |
|
|
CA400143636 rs1247268105 |
286 | I>M | No |
ClinGen gnomAD |
|
|
CA400143633 rs1353708476 |
286 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1388861359 CA400143859 |
288 | S>R | No |
ClinGen TOPMed |
|
|
rs1411545813 CA400143868 |
289 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747428968 CA8636897 |
292 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1244949054 CA400143959 |
292 | R>S | No |
ClinGen gnomAD |
|
|
rs772532114 CA8636899 |
296 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA400144062 rs1400068469 |
297 | K>N | No |
ClinGen gnomAD |
|
|
rs371277157 CA8636901 |
297 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774125323 CA8636902 |
299 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400144122 rs1598213120 |
301 | T>P | No |
ClinGen Ensembl |
|
|
CA400144160 rs1598213127 |
302 | I>T | No |
ClinGen Ensembl |
|
|
rs759303018 CA8636903 |
302 | I>V | No |
ClinGen ExAC |
|
|
rs767370487 COSM1184331 CA8636904 |
303 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752552356 CA8636905 |
303 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400144214 rs1311406836 |
305 | P>S | No |
ClinGen gnomAD |
|
|
CA8636906 rs373854762 |
306 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8636907 rs764085984 |
308 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291414826 rs35625808 |
312 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636910 rs35625808 |
312 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746054405 CA8636911 |
313 | P>S | No |
ClinGen ExAC |
|
| TCGA novel | 314 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400144417 rs1567864690 |
314 | G>R | No |
ClinGen Ensembl |
|
|
rs758644590 CA8636912 |
315 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400145558 rs1382597283 |
317 | R>G | No |
ClinGen TOPMed |
|
|
CA400145561 rs1160259416 |
317 | R>K | No |
ClinGen gnomAD |
|
|
rs758553259 CA8636930 |
319 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8636934 rs781451742 |
326 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755349876 CA8636933 |
326 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs558180961 CA400145769 |
327 | T>A | No |
ClinGen gnomAD |
|
|
CA400145773 rs1386057835 |
327 | T>I | No |
ClinGen gnomAD |
|
|
rs558180961 CA291417747 |
327 | T>P | No |
ClinGen gnomAD |
|
|
CA8636935 rs748648455 |
328 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770437014 CA8636936 |
328 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201464168 CA8636937 |
329 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400145874 rs1283596712 |
331 | L>V | No |
ClinGen TOPMed |
|
|
CA8636939 rs145043273 |
332 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201209295 CA8636940 COSM1580553 |
332 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs868395683 CA291417780 |
334 | H>R | No |
ClinGen Ensembl |
|
|
rs760281270 CA8636941 |
334 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400145970 rs1253018157 |
335 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs8068664 CA8636943 |
337 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8636942 rs768452817 |
337 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400146075 rs1424794858 |
339 | M>T | No |
ClinGen gnomAD |
|
|
rs761683989 CA8636944 |
339 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs763008576 CA8636947 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM980754 rs527317913 CA8636946 |
341 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs541343923 CA8636950 |
342 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8636951 rs781561284 |
343 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8636952 COSM1580554 rs199894921 |
344 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8636954 rs756612045 |
344 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636953 rs756612045 COSM980755 |
344 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8636955 rs530225763 |
345 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371960880 CA8636956 |
346 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA400146305 rs1598215623 |
347 | Y>S | No |
ClinGen Ensembl |
|
|
CA8636959 rs768210043 |
348 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636961 rs747935309 |
352 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8636962 rs769638425 |
355 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA400146567 rs1344684260 |
356 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1474693376 CA400146605 |
358 | S>N | No |
ClinGen TOPMed |
|
|
CA400146623 rs139177834 |
358 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400146640 rs1291769549 |
359 | Q>* | No |
ClinGen gnomAD |
|
|
rs1422899306 CA400146683 |
361 | P>A | No |
ClinGen gnomAD |
|
|
rs1193973526 CA400146703 |
362 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1489433613 CA400146789 |
365 | K>T | No |
ClinGen TOPMed |
|
|
rs1047232548 CA291417941 |
366 | D>E | No |
ClinGen Ensembl |
|
|
CA400146801 rs1401985459 |
366 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1463913625 CA400146808 |
366 | D>V | No |
ClinGen gnomAD |
|
|
CA400146805 rs1401985459 |
366 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA400146843 CA400146838 rs8074457 |
367 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8636967 CA291417965 rs774318200 |
368 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 368 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552267719 CA8636969 |
369 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8636968 rs552267719 |
369 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756522256 CA8636970 |
370 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA291418019 rs1004514359 |
371 | Y>C | No |
ClinGen TOPMed |
|
|
CA291418026 rs1037976855 |
373 | T>S | No |
ClinGen Ensembl |
|
|
rs143101030 CA8636972 |
374 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291418054 rs1001710567 |
375 | P>L | No |
ClinGen gnomAD |
|
|
CA291418048 rs1001710567 |
375 | P>R | No |
ClinGen gnomAD |
|
|
rs757724047 CA8636973 |
378 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1020672094 CA291419303 |
379 | G>C | No |
ClinGen TOPMed |
|
|
CA400148045 rs1347273659 |
379 | G>D | No |
ClinGen TOPMed |
|
|
CA8637003 rs778691939 |
383 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8637004 rs778691939 COSM1184332 |
383 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778691939 CA8637005 |
383 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 386 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8637007 rs760918438 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769007588 CA8637008 |
390 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA400148349 rs1242874727 |
391 | V>A | No |
ClinGen gnomAD |
|
|
CA400148335 rs1352035939 |
391 | V>I | No |
ClinGen gnomAD |
|
|
rs1352035939 CA400148344 |
391 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777064831 CA8637009 |
393 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA291419327 rs966794835 |
393 | T>I | No |
ClinGen TOPMed |
|
|
CA8637010 rs201429943 |
395 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8637012 rs750865058 |
396 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8637014 rs766965101 |
398 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1194594576 CA400148503 |
398 | W>L | No |
ClinGen TOPMed |
|
|
CA291419363 rs921454316 |
401 | D>G | No |
ClinGen gnomAD |
|
|
rs755687202 CA8637016 |
401 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1419224411 CA400148613 |
405 | F>L | No |
ClinGen gnomAD |
|
|
CA291419395 rs914999880 |
405 | F>S | No |
ClinGen TOPMed |
|
|
CA8637018 rs147132109 |
407 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 410 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778796878 CA8637020 |
411 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 412 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8637021 rs745741302 |
413 | V>L | No |
ClinGen ExAC |
|
| TCGA novel | 415 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050567469 CA400148768 |
420 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA291419424 rs1050567469 |
420 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1307767674 CA400148774 |
421 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1376783276 CA400148779 |
421 | T>I | No |
ClinGen gnomAD |
|
|
CA8637022 rs772145473 |
422 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs1358036400 CA400148790 |
423 | L>P | No |
ClinGen gnomAD |
|
|
rs140270910 CA8637023 |
423 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291419442 rs944851390 |
424 | D>N | No |
ClinGen TOPMed |
|
|
CA400148820 rs1168994827 |
426 | V>G | No |
ClinGen gnomAD |
|
|
rs758338859 CA8637040 |
426 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8637041 rs780130092 |
427 | G>D | No |
ClinGen ExAC |
|
|
rs370341821 CA8637043 |
428 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400148833 rs1567868163 |
429 | S>R | No |
ClinGen Ensembl |
|
|
rs1567868174 CA400148861 |
433 | N>S | No |
ClinGen Ensembl |
|
|
rs147375987 CA8637046 |
435 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_086499 COSM1580555 rs148441237 CA8637047 |
436 | Q>R | haematopoietic_and_lymphoid_tissue found in individuals with Sd(a-) phenotype [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA400148905 rs1239641001 |
439 | L>F | No |
ClinGen TOPMed |
|
|
CA400148929 COSM1660720 rs1401400043 |
443 | Q>* | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs773384120 CA8637049 |
443 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400148938 rs1268803929 |
444 | S>N | No |
ClinGen TOPMed |
|
|
rs571833893 CA291421049 |
444 | S>R | No |
ClinGen 1000Genomes |
|
|
rs1317029252 CA400148957 |
446 | N>K | No |
ClinGen gnomAD |
|
|
rs749638537 CA8637050 |
447 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257742244 CA400148965 |
448 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400148967 rs1342770525 |
448 | A>V | No |
ClinGen gnomAD |
|
|
rs1200012233 CA400148980 |
450 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1200012233 CA400148982 |
450 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 453 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771332463 CA8637051 |
453 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1489404226 CA400149017 |
455 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
TCGA novel rs774808849 CA8637053 |
457 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA400149030 rs1262963477 |
457 | F>V | No |
ClinGen gnomAD |
|
|
rs1227736193 CA400149045 |
459 | P>A | No |
ClinGen TOPMed |
|
| VAR_035990 | 459 | P>H | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA400149059 rs1376497987 |
461 | D>G | No |
ClinGen gnomAD |
|
|
CA400149068 rs1428168736 |
462 | G>V | No |
ClinGen TOPMed |
|
|
CA400149089 rs1344262528 |
465 | S>R | No |
ClinGen TOPMed |
|
|
VAR_049239 rs7224888 CA8637056 |
466 | C>R | found in individuals with Sd(a-) phenotype [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1360549018 CA400149095 |
466 | C>Y | No |
ClinGen gnomAD |
|
|
rs750104114 CA8637060 |
467 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs150986602 CA8637058 |
467 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8637059 rs150986602 |
467 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 469 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199835858 CA8637066 |
472 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM2698215 rs143507301 CA8637065 |
472 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8637069 rs200407399 |
473 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8637068 rs777355768 |
473 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052588297 CA291421111 |
474 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771244751 CA8637070 |
474 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771244751 CA8637071 |
474 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915410293 CA291421119 |
477 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1212601559 CA400149161 |
478 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8637072 rs746312515 |
478 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372897714 CA8637073 |
480 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8637076 COSM1479704 rs201141534 |
482 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8637078 rs187168801 |
482 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187168801 CA8637077 |
482 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1295086249 CA400149203 |
485 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8637079 rs766229484 |
485 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs564089824 CA291421161 |
486 | V>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs564089824 CA400149209 |
486 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs564089824 CA400149210 |
486 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs759482767 CA400149217 |
487 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759482767 CA8637081 |
487 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1308537529 CA400149237 |
490 | P>S | No |
ClinGen gnomAD |
|
|
rs1308537529 CA400149235 |
490 | P>T | No |
ClinGen gnomAD |
|
|
rs767487284 CA8637082 |
491 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8637083 rs141826857 |
491 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8637085 rs141204971 |
492 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112740954 CA8637086 COSM2149758 RCV000969693 |
494 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs112740954 CA8637087 |
494 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779178371 CA8637088 COSM1184333 |
494 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772376416 CA8637090 |
497 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8637107 rs750696308 |
499 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs976152789 CA291421504 |
500 | F>I | No |
ClinGen Ensembl |
|
|
CA8637109 rs138865972 |
502 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138865972 CA8637108 |
502 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400149326 rs1359648744 |
503 | D>Y | No |
ClinGen gnomAD |
|
|
rs1301162398 CA400149345 |
506 | G>W | No |
ClinGen gnomAD |
|
|
rs769058011 CA8637111 |
507 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8637113 rs755003652 COSM1679899 |
510 | V>M | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770624752 CA8637115 |
511 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs770624752 CA8637114 |
511 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA400149372 rs1284688144 |
511 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs948639038 CA291421522 |
512 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1211617859 CA400149391 |
514 | P>L | No |
ClinGen gnomAD |
|
|
rs771850763 CA8637117 |
515 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1567868808 CA400149404 |
516 | V>A | No |
ClinGen Ensembl |
|
|
rs907015039 CA291421531 |
516 | V>M | No |
ClinGen Ensembl |
|
|
rs775161271 CA8637118 |
517 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA400149412 rs1348585080 |
518 | I>V | No |
ClinGen TOPMed |
|
|
CA8637120 rs764010034 |
519 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760590770 CA8637119 |
519 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776605530 CA8637121 |
520 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761855709 CA8637122 |
522 | S>C | Variant assessed as Somatic; 9.275e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368318516 CA8637124 |
523 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8637125 rs758574637 |
527 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1331773000 CA400149481 |
529 | S>L | No |
ClinGen TOPMed |
|
|
rs1430539682 CA400149502 |
533 | A>P | No |
ClinGen gnomAD |
|
|
CA8637128 rs755437863 |
535 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202011672 CA400149512 |
535 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1411881924 CA400149529 COSM1324989 |
537 | T>S | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8637129 rs781761727 |
538 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8637131 rs756786091 |
541 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400149556 rs1346572402 |
541 | Y>S | No |
ClinGen gnomAD |
|
|
CA8637133 rs146256204 COSM1580556 |
542 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141839899 CA8637132 |
542 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444920236 CA400149565 |
543 | S>P | No |
ClinGen gnomAD |
|
|
CA8637134 rs771627399 |
544 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA291421595 rs966582248 |
544 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1226668323 CA400149574 |
544 | N>K | No |
ClinGen TOPMed |
|
|
CA291421596 rs966582248 |
544 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400149578 rs1326899066 |
545 | T>N | No |
ClinGen TOPMed |
|
|
rs1598219530 CA400149575 |
545 | T>P | No |
ClinGen Ensembl |
|
|
rs1478982055 CA400149581 |
546 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1189361452 CA400149591 |
547 | T>I | No |
ClinGen gnomAD |
|
|
rs1189361452 CA400149590 |
547 | T>N | No |
ClinGen gnomAD |
|
|
CA291421606 rs558063592 |
548 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8637136 rs375974245 COSM1384055 |
548 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs558063592 CA8637135 |
548 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400149596 rs1300905313 |
549 | V>L | No |
ClinGen TOPMed |
|
|
rs1400279182 CA400149608 |
550 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400149628 rs1324639046 |
553 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8637138 rs201152013 |
554 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400149635 rs1567868944 |
555 | L>V | No |
ClinGen Ensembl |
|
|
rs1160526609 CA400149645 |
556 | H>R | No |
ClinGen TOPMed |
|
|
CA400149653 rs1303375905 |
557 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA291421633 rs984824989 |
559 | K>E | No |
ClinGen Ensembl |
|
|
rs1240323127 CA400149677 |
560 | N>S | No |
ClinGen gnomAD |
|
|
CA400149691 rs1473217998 |
562 | L>F | No |
ClinGen TOPMed |
|
|
rs199908433 CA8637143 COSM1580557 |
566 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201307191 CA8637144 |
566 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with Q8NHY0
[MIM: 615018]: Sd(a) polyagglutination syndrome (SDPS)
A condition characterized by red blood cells agglutination upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory. SDPS depends on the strength of expression of the Sd(a) antigen on red blood cells. Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can result in red cell agglutination if they are transfused with cells showing strong Sd(a) expression. {ECO:0000269|PubMed:31367682}. Note=The gene represented in this entry is involved in disease pathogenesis.
Without disease ID
- A condition characterized by red blood cells agglutination upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory. SDPS depends on the strength of expression of the Sd(a) antigen on red blood cells. Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can result in red cell agglutination if they are transfused with cells showing strong Sd(a) expression. {ECO:0000269|PubMed:31367682}. Note=The gene represented in this entry is involved in disease pathogenesis.
1 regional properties for Q8NHY0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Glycosyltransferase 2-like | 325 - 431 | IPR001173 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of Golgi membrane | The component of the Golgi 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. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylgalactosaminyltransferase activity | Catalysis of the transfer of an N-acetylgalactosaminyl residue from UDP-N-acetyl-galactosamine to an oligosaccharide. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid glycosylation | Covalent attachment of a glycosyl residue to a lipid molecule. |
| negative regulation of cell-cell adhesion | Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. |
| oligosaccharide biosynthetic process | The chemical reactions and pathways resulting in the formation of oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. |
| protein N-linked glycosylation via asparagine | The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification. |
| UDP-N-acetylgalactosamine metabolic process | The chemical reactions and pathways involving UDP-N-acetylgalactosamine, a substance composed of N-acetylgalactosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate. |
| UDP-N-acetylglucosamine metabolic process | The chemical reactions and pathways involving UDP-N-acetylglucosamine, a substance composed of N-acetylglucosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSAGFSVGK | FHVEVASRGR | ECVSGTPECG | NRLGSAGFGA | LCLELRGADP | AWGPFAAHGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SRRQGSRFLW | LLKILVIILV | LGIVGFMFGS | MFLQAVFSSP | KPELPSPAPG | VQKLKLLPEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLRNLFSYDG | IWLFPKNQCK | CEANKEQGGY | NFQDAYGQSD | LPAVKARRQA | EFEHFQRREG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPRPLPLLVQ | PNLPFGYPVH | GVEVMPLHTV | PIPGLQFEGP | DAPVYEVTLT | ASLGTLNTLA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DVPDSVVQGR | GQKQLIISTS | DRKLLKFILQ | HVTYTSTGYQ | HQKVDIVSLE | SRSSVAKFPV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TIRHPVIPKL | YDPGPERKLR | NLVTIATKTF | LRPHKLMIML | RSIREYYPDL | TVIVADDSQK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PLEIKDNHVE | YYTMPFGKGW | FAGRNLAISQ | VTTKYVLWVD | DDFLFNEETK | IEVLVDVLEK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TELDVVGGSV | LGNVFQFKLL | LEQSENGACL | HKRMGFFQPL | DGFPSCVVTS | GVVNFFLAHT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ERLQRVGFDP | RLQRVAHSEF | FIDGLGTLLV | GSCPEVIIGH | QSRSPVVDSE | LAALEKTYNT |
| 550 | 560 | ||||
| YRSNTLTRVQ | FKLALHYFKN | HLQCAA |