Q658P3
PR
Gene name |
STEAP3 (TSAP6) |
Protein name |
Metalloreductase STEAP3 |
Names |
Dudulin-2, Six-transmembrane epithelial antigen of prostate 3, Tumor suppressor-activated pathway protein 6, hTSAP6, pHyde, hpHyde |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55240 |
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
3 structures for Q658P3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2VNS | X-ray | 200 A | A/B | 1-215 | PDB |
| 2VQ3 | X-ray | 200 A | A/B | 1-215 | PDB |
| AF-Q658P3-F1 | Predicted | AlphaFoldDB |
485 variants for Q658P3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs587776963 CA214416 RCV000043521 |
100 | C>* | Severe congenital hypochromic anemia with ringed sideroblasts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1846490 rs777781096 |
2 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1846492 rs771183501 |
4 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs749544715 CA1846491 |
4 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA348339413 rs771183501 |
4 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs761191740 CA1846497 CA1846498 |
5 | M>I | No |
ClinGen ExAC |
|
|
rs772485646 CA1846495 |
5 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1846496 rs772485646 |
5 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs149645383 RCV000903653 CA1846494 |
5 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs202057547 CA1846502 |
6 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1846500 rs772886032 |
6 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1846499 rs772886032 |
6 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348339421 rs772886032 |
6 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs141284145 CA348339435 |
8 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141284145 CA1846504 |
8 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846505 rs767285173 |
10 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1846506 rs752599668 |
15 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1846507 rs370224151 |
16 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348339482 rs1348234297 |
16 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1846508 rs777658187 |
17 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs141153214 CA348339494 |
17 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348339499 rs1413818554 |
18 | D>G | No |
ClinGen TOPMed |
|
|
COSM3933304 rs143961302 COSM3933303 CA1846510 COSM109583 |
18 | D>N | urinary_tract skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1349280251 CA348339525 |
22 | A>T | No |
ClinGen gnomAD |
|
|
CA1846513 CA1846514 rs746039592 |
23 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA348339540 rs1486273066 |
24 | V>D | No |
ClinGen gnomAD |
|
|
CA348339539 rs1281894227 |
24 | V>F | No |
ClinGen gnomAD |
|
|
CA1846516 rs148260187 |
26 | D>N | Variant assessed as Somatic; 0.001063 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846517 rs769332570 |
27 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1846518 rs200527547 |
28 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348339563 rs1439921932 |
28 | A>T | No |
ClinGen gnomAD |
|
|
rs200527547 CA348339567 |
28 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348339573 rs1558749700 |
29 | P>L | No |
ClinGen Ensembl |
|
|
CA348339580 rs1363462813 |
30 | K>N | No |
ClinGen gnomAD |
|
|
rs762616850 CA1846519 |
32 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558749711 CA348339588 |
32 | G>S | No |
ClinGen Ensembl |
|
|
rs770498199 CA1846520 |
33 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1573558514 CA348339631 |
36 | S>C | No |
ClinGen Ensembl |
|
|
rs1483598265 CA348339636 |
36 | S>T | No |
ClinGen TOPMed |
|
|
CA1846522 rs140305439 |
37 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399725155 CA348339654 |
38 | D>N | No |
ClinGen gnomAD |
|
|
CA1846524 rs752579788 |
39 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1846526 rs558181581 |
41 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846527 rs200164081 |
41 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348339675 rs558181581 |
41 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348058697 CA348339684 |
42 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573558603 CA348339685 |
43 | L>M | No |
ClinGen Ensembl |
|
|
rs757338271 CA1846528 |
46 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348339703 rs757338271 |
46 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846529 rs778910171 |
46 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348339713 rs1196771941 |
48 | V>L | No |
ClinGen gnomAD |
|
|
CA1846532 rs780115047 |
49 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1846531 rs758682476 |
49 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs780115047 CA348339720 |
49 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1846533 rs202182166 |
51 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348339741 rs1253633846 |
53 | K>Q | No |
ClinGen gnomAD |
|
|
CA348339752 rs1172882786 |
54 | V>A | No |
ClinGen gnomAD |
|
|
CA348339749 COSM359511 rs1451910615 |
54 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs185132453 CA1846536 |
56 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563338009 CA1846535 |
56 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA54612190 rs865997066 |
57 | G>R | No |
ClinGen gnomAD |
|
|
rs137993856 CA54612194 |
57 | G>V | No |
ClinGen ESP TOPMed |
|
|
rs1573558735 CA348339770 |
58 | S>G | No |
ClinGen Ensembl |
|
|
CA1846537 rs748606919 |
58 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553893770 CA1846538 |
59 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846539 rs376876500 |
59 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553893770 CA54612201 |
59 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846541 rs771807781 |
61 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs760533037 CA1846543 |
62 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138657061 CA1846544 |
63 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138657061 CA1846545 |
63 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1846546 rs369037419 |
63 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846547 rs765123583 |
64 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA348339804 rs765123583 |
64 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA348339821 rs1191800029 |
67 | L>Q | No |
ClinGen gnomAD |
|
|
CA348339823 rs1191800029 |
67 | L>R | No |
ClinGen gnomAD |
|
|
rs144845547 CA1846549 |
71 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348339865 rs1193899725 |
74 | V>M | No |
ClinGen gnomAD |
|
|
rs148577589 CA54612280 |
75 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1846551 rs751663398 |
76 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348339883 rs1484580085 |
77 | Q>* | No |
ClinGen TOPMed |
|
|
CA1846552 rs200273960 |
77 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA54612303 rs922485689 |
78 | E>Q | No |
ClinGen Ensembl |
|
|
CA348339903 rs1573559005 |
80 | A>S | No |
ClinGen Ensembl |
|
|
CA1846553 rs781648522 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA348339921 rs1363527428 |
82 | S>R | No |
ClinGen gnomAD |
|
|
CA1846555 rs756725890 |
83 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846556 rs150662213 |
84 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771482133 CA1846558 |
86 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348339949 rs1274241490 |
87 | I>T | No |
ClinGen gnomAD |
|
|
CA348339964 rs1219721555 |
89 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201481272 CA1846559 |
89 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1553438880 CA348339970 |
90 | A>V | No |
ClinGen Ensembl |
|
|
CA348339975 rs746610943 |
91 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746610943 CA1846560 |
91 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA348339973 rs1262567643 |
91 | V>L | No |
ClinGen gnomAD |
|
|
CA1846563 rs550764910 |
93 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1846562 rs140512748 |
93 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846564 rs765275501 |
94 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348339992 rs1573559161 |
94 | E>G | No |
ClinGen Ensembl |
|
|
CA348339997 rs1474668299 |
95 | H>R | No |
ClinGen gnomAD |
|
|
CA1846566 rs763096265 |
95 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA54612383 rs888272681 |
96 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 97 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1846569 rs755212403 |
97 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348340057 rs1573559253 |
104 | D>G | No |
ClinGen Ensembl |
|
|
rs1294282263 CA348340067 |
105 | Q>H | No |
ClinGen gnomAD |
|
|
rs1359152783 CA348340061 |
105 | Q>K | No |
ClinGen gnomAD |
|
|
CA348340078 rs767817950 |
107 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767817950 CA1846572 |
107 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865789988 CA54612416 |
108 | G>D | No |
ClinGen Ensembl |
|
|
CA348340098 rs756536421 |
110 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA54612437 rs376937504 |
113 | D>E | No |
ClinGen Ensembl |
|
|
CA1846577 rs145640198 |
117 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348340140 rs145640198 |
117 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1038719894 CA54612471 |
119 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs894230297 CA54612504 |
122 | H>N | No |
ClinGen Ensembl |
|
|
CA1846578 rs779387342 |
122 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746488051 CA1846579 |
124 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1846580 rs768343173 |
125 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs190041367 CA1846581 |
126 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846582 rs748000954 |
126 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA348340207 rs1388234709 |
127 | E>K | No |
ClinGen TOPMed |
|
|
CA348340224 rs1419345562 |
128 | S>Y | No |
ClinGen gnomAD |
|
|
CA1846583 rs769407405 |
129 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348340254 rs1257918037 |
130 | A>V | No |
ClinGen gnomAD |
|
|
CA1846586 rs771073891 |
131 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs181208641 CA1846585 |
131 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759666985 CA1846588 |
134 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348340304 rs1374285773 |
134 | A>V | No |
ClinGen gnomAD |
|
|
rs1307161135 CA348340312 |
135 | S>Y | No |
ClinGen gnomAD |
|
|
rs753048220 CA1846589 |
136 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348340343 rs752965233 CA1846590 |
137 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348340352 rs1573559568 |
138 | P>H | No |
ClinGen Ensembl |
|
|
CA348340360 rs1460969856 |
139 | T>S | No |
ClinGen TOPMed |
|
|
CA54612548 rs886129247 |
141 | T>A | No |
ClinGen TOPMed |
|
|
rs143565626 CA1846591 |
145 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1846592 rs371377361 |
147 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435242115 CA348340470 |
148 | V>L | No |
ClinGen TOPMed |
|
|
CA348340501 rs1558750361 |
151 | A>T | No |
ClinGen Ensembl |
|
|
rs754395019 CA1846593 |
151 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA348340571 rs1198304922 |
155 | Q>H | No |
ClinGen TOPMed |
|
|
rs958413111 CA54612585 |
156 | A>P | No |
ClinGen gnomAD |
|
|
rs958413111 CA348340577 |
156 | A>S | No |
ClinGen gnomAD |
|
|
rs1425118521 CA348340591 |
157 | G>D | No |
ClinGen gnomAD |
|
|
CA1846597 rs374629672 |
158 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879218768 CA54612586 |
158 | P>S | No |
ClinGen gnomAD |
|
|
CA1846598 rs754476468 |
159 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348340614 rs1329564536 |
159 | R>S | No |
ClinGen gnomAD |
|
|
CA348340621 rs1373209337 |
160 | D>Y | No |
ClinGen gnomAD |
|
|
rs780824435 CA1846600 |
161 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348340645 rs1217463621 |
163 | R>W | No |
ClinGen gnomAD |
|
|
CA1846625 rs200237471 |
165 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754139026 CA1846626 |
166 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846627 rs558666670 |
166 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768814806 CA1846628 |
167 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1043166440 CA54614338 |
167 | I>N | No |
ClinGen TOPMed |
|
|
CA1846629 rs776904108 |
168 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs904286342 CA54614352 |
168 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773728715 CA1846632 |
169 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA348341087 rs773728715 |
169 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000881181 rs113158407 CA1846631 |
169 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1573562777 CA348341096 |
170 | D>A | No |
ClinGen Ensembl |
|
|
CA348341108 rs1488243319 |
171 | Q>E | No |
ClinGen gnomAD |
|
|
rs763409386 CA1846633 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1846636 rs375189077 |
176 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs763722603 CA1846637 |
176 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348341160 COSM716064 rs763722603 |
176 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348341159 rs763722603 |
176 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846635 rs375189077 |
176 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1366973874 CA348341162 |
177 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1366973874 CA348341163 |
177 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1199839289 CA348341172 |
178 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1573562867 CA348341167 |
178 | V>I | No |
ClinGen Ensembl |
|
|
rs575610515 CA1846638 |
179 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA54614480 rs765399573 |
182 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846640 rs765399573 |
182 | A>V | Variant assessed as Somatic; 6.457e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846642 rs758453971 |
183 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs17013371 VAR_031975 CA1846644 |
184 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA54614557 rs974721161 |
184 | A>V | No |
ClinGen Ensembl |
|
|
rs776728877 CA1846646 |
185 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1846645 rs768712005 |
185 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA348341233 rs1309346802 |
188 | M>R | No |
ClinGen gnomAD |
|
|
rs748351663 CA1846647 |
188 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238541118 CA348341241 |
189 | P>L | No |
ClinGen gnomAD |
|
|
rs372369699 CA1846648 |
189 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM296525 CA1846650 rs201076547 |
190 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766930234 CA1846651 |
191 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 193 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1846652 rs774917960 |
193 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA348341263 rs1558751614 |
193 | G>R | No |
ClinGen Ensembl |
|
|
CA348341273 rs1439761109 |
194 | S>F | No |
ClinGen gnomAD |
|
|
CA1846654 rs763602911 |
195 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1846653 rs528158589 |
195 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753458208 COSM1005909 CA1846655 |
196 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 197 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348341293 rs1396844377 |
198 | A>V | No |
ClinGen gnomAD |
|
|
rs1405591974 CA348341300 |
199 | W>* | No |
ClinGen TOPMed |
|
|
CA54614655 rs758479623 |
199 | W>* | No |
ClinGen TOPMed |
|
|
rs750297143 CA1846659 |
203 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs540350733 CA1846661 |
204 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1846660 rs758259221 |
204 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846662 rs746904521 |
205 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1005910 CA1846666 rs748187004 |
207 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846667 rs781048051 |
207 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781048051 CA348341348 |
207 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846665 rs748187004 |
207 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960737631 CA54614722 |
208 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA54614735 rs991031822 |
209 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376309834 CA348341362 |
210 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376309834 CA1846668 |
210 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376309834 CA1846669 |
210 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138436983 CA1846672 |
211 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1846671 rs760063621 |
211 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs776232633 CA1846673 |
212 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1846675 rs764990160 |
214 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846674 rs761354284 |
214 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761354284 CA54614779 |
214 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1399061621 CA348341386 |
215 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1846677 rs142093432 RCV000892509 |
216 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142093432 CA348341395 |
216 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299834150 CA348341418 |
221 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348341439 rs139584756 |
224 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846679 rs139584756 |
224 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA348341444 rs1391774783 |
225 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1316268978 TCGA novel CA348341452 |
226 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs754975953 CA1846680 |
227 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1265224900 CA348341485 |
230 | N>K | No |
ClinGen gnomAD |
|
|
rs200940166 CA1846681 |
230 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1430284157 CA348341487 |
231 | F>I | No |
ClinGen gnomAD |
|
|
COSM4154489 rs141034237 COSM4154490 COSM4154491 CA1846683 |
232 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs749497490 CA1846685 |
233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846684 rs149956812 |
233 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1846687 rs150281159 |
234 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1846686 rs771247185 |
234 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs570965143 CA1846689 |
235 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348341522 rs761485248 |
237 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1846691 rs761485248 |
237 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs200036023 CA1846693 |
239 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338906939 CA348341533 |
239 | Y>H | No |
ClinGen gnomAD |
|
|
rs200036023 CA1846692 |
239 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348341554 rs1343808867 |
242 | E>* | No |
ClinGen Ensembl |
|
|
CA1846694 rs762666081 |
245 | N>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1005913 rs866492166 CA54614916 |
247 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1242662464 CA348341620 COSM1005914 |
251 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs185406347 CA1846696 |
252 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348341636 rs767495306 |
254 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767495306 CA1846698 COSM1005915 COSM4154493 COSM4154492 |
254 | V>M | kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375917335 CA1846699 |
255 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756243585 CA1846700 |
256 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1846701 rs777805661 |
256 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542940777 CA1846702 |
258 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348341673 rs1365093567 |
260 | P>L | No |
ClinGen gnomAD |
|
|
rs1365093567 CA348341672 |
260 | P>R | No |
ClinGen gnomAD |
|
|
CA1846703 rs201605236 |
261 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158590458 CA348341677 |
261 | C>Y | No |
ClinGen gnomAD |
|
|
CA1846704 rs372628049 |
262 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746252829 CA1846705 |
263 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746252829 CA348341686 |
263 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs928790862 CA54615068 |
264 | Y>H | No |
ClinGen TOPMed |
|
|
CA1846707 rs143465406 |
265 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348341706 rs1470757737 |
266 | L>P | No |
ClinGen TOPMed |
|
|
CA1846709 rs142031679 |
267 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772881982 CA1846710 |
269 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs770630600 CA1846712 |
270 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759442493 CA1846714 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1846713 rs139639056 |
271 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54615197 rs947336917 |
274 | G>A | No |
ClinGen gnomAD |
|
|
rs775455090 CA1846716 |
274 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs931868085 CA54615210 |
275 | V>A | No |
ClinGen TOPMed |
|
|
CA1846718 COSM1162496 rs142251480 |
275 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA54615216 rs140581945 |
277 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757223667 CA1846720 |
277 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846721 rs140581945 |
277 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348341768 rs1553439385 |
278 | A>D | No |
ClinGen Ensembl |
|
|
rs1553439380 CA348341763 |
278 | A>T | No |
ClinGen Ensembl |
|
|
rs202090855 CA54615236 |
280 | L>V | No |
ClinGen 1000Genomes |
|
|
CA1846723 rs758849968 |
281 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1846726 rs755567018 |
283 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747339756 CA1846725 |
283 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781742485 CA1846727 |
284 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs147820529 CA1846728 RCV000970428 |
284 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1259628131 CA348341801 |
285 | G>A | No |
ClinGen gnomAD |
|
|
rs745485167 CA1846731 |
285 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457966853 CA348341803 |
286 | T>A | No |
ClinGen gnomAD |
|
|
CA348341820 rs1573564136 |
288 | Y>S | No |
ClinGen Ensembl |
|
|
CA348341825 rs1235892875 |
289 | Q>* | No |
ClinGen gnomAD |
|
|
rs374186156 CA1846733 |
290 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000904986 CA1846734 rs138941861 |
290 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1431821653 CA348341845 |
292 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1431821653 CA348341847 |
292 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1465343332 CA348341853 |
293 | D>G | No |
ClinGen gnomAD |
|
|
CA1846737 rs776361306 |
293 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846738 rs776361306 |
293 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846739 rs765213625 |
294 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348341867 rs1206410433 |
295 | L>Q | No |
ClinGen Ensembl |
|
|
CA54615345 rs199791966 |
297 | H>L | No |
ClinGen Ensembl |
|
|
CA348341897 rs1438451571 |
299 | L>P | No |
ClinGen gnomAD |
|
|
rs763118220 CA1846741 |
300 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766661984 CA1846742 |
301 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1187182989 CA348341907 |
301 | H>Y | No |
ClinGen TOPMed |
|
|
rs1279915275 CA348341915 |
302 | R>C | No |
ClinGen gnomAD |
|
|
CA1846745 rs755328857 |
302 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846744 rs755328857 |
302 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994440852 CA54615398 |
303 | K>E | No |
ClinGen TOPMed |
|
|
rs753131199 CA1846746 |
304 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1846748 rs552496803 |
305 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144575753 CA1846747 |
305 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846750 rs139027075 |
306 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246665092 CA348341948 |
308 | L>F | No |
ClinGen gnomAD |
|
|
rs779621410 CA1846751 |
309 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1196268302 CA348341968 |
311 | F>L | No |
ClinGen gnomAD |
|
|
CA1846753 rs141920354 |
313 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348341989 rs761629489 |
314 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761629489 CA1846755 |
314 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846756 rs372130874 |
315 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1846757 rs773189725 |
316 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766715060 CA1846759 |
317 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 321 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751827201 CA1846760 |
323 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1846762 rs199594647 |
324 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199594647 CA1846763 |
324 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846761 rs760037261 |
324 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1846765 rs200689105 |
326 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1399049 CA1846766 rs184644411 |
326 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM341248 CA1846767 rs184644411 |
326 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779744806 CA1846768 |
327 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846769 rs574673455 |
327 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369070148 CA54615563 |
328 | A>G | No |
ClinGen ESP gnomAD |
|
|
CA1846771 rs376635282 |
328 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747929489 CA1846772 |
330 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000880063 rs199836424 CA1846773 |
330 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA348342092 rs1422601380 |
332 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1846775 rs763193179 |
334 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201261722 CA54615580 |
335 | N>S | No |
ClinGen Ensembl |
|
|
rs771121750 CA1846776 |
335 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1341867887 CA348342124 |
337 | A>E | No |
ClinGen gnomAD |
|
|
rs985185167 CA54615594 |
339 | K>Q | No |
ClinGen TOPMed |
|
|
rs759800863 CA1846778 |
339 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA348342141 rs1434229457 |
340 | Q>* | No |
ClinGen TOPMed |
|
|
CA1846779 rs767736810 |
340 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA348342144 rs1349163143 |
340 | Q>L | No |
ClinGen TOPMed |
|
|
rs1172221121 CA348342319 |
341 | V>G | No |
ClinGen gnomAD |
|
|
CA348342324 rs1276805470 |
342 | L>V | No |
ClinGen gnomAD |
|
|
rs377275193 CA1846796 |
343 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348342358 rs1558756381 |
345 | K>* | No |
ClinGen Ensembl |
|
|
rs1237706178 CA348342389 |
347 | H>L | No |
ClinGen gnomAD |
|
|
CA1846798 rs775713149 |
348 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348342418 rs1178532126 |
350 | V>M | No |
ClinGen TOPMed |
|
|
rs777166218 CA1846803 |
352 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348342445 rs1573574859 |
352 | E>G | No |
ClinGen Ensembl |
|
|
rs777166218 COSM40725 CA348342443 |
352 | E>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1331435827 CA348342452 |
353 | E>K | No |
ClinGen gnomAD |
|
|
rs1471032973 CA348342469 |
354 | V>A | No |
ClinGen TOPMed |
|
|
CA1846804 rs762342724 |
354 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348342483 rs765686178 |
355 | W>* | No |
ClinGen ExAC TOPMed |
|
|
rs765686178 CA1846805 |
355 | W>C | No |
ClinGen ExAC TOPMed |
|
|
CA1846807 rs754445970 COSM475847 |
356 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1846806 rs370856649 |
356 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846809 rs767144294 CA1846808 |
357 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767144294 CA348342491 |
357 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54621452 rs868123897 |
358 | E>K | No |
ClinGen Ensembl |
|
|
CA348342537 rs1281826085 |
361 | L>F | No |
ClinGen gnomAD |
|
|
CA348342549 rs1322094833 |
362 | S>P | No |
ClinGen TOPMed |
|
|
rs777591948 CA1846811 |
364 | G>A | No |
ClinGen ExAC |
|
|
CA54621465 rs868436103 |
364 | G>R | No |
ClinGen gnomAD |
|
|
rs1353198489 CA348342591 |
365 | V>A | No |
ClinGen TOPMed |
|
|
CA348342585 rs1224749109 |
365 | V>L | No |
ClinGen TOPMed |
|
|
CA348342584 rs1224749109 |
365 | V>M | No |
ClinGen TOPMed |
|
|
rs188660715 CA1846817 |
369 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188660715 CA348342625 |
369 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1460049271 CA348342663 |
372 | S>C | No |
ClinGen gnomAD |
|
|
rs1338182606 CA348342656 |
372 | S>T | No |
ClinGen TOPMed |
|
|
rs762111341 CA1846822 |
376 | V>M | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348342702 rs1405338277 |
377 | T>A | No |
ClinGen TOPMed |
|
|
CA1846823 rs770293987 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365021487 CA348342734 |
382 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs962584156 CA54621560 |
385 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs148455489 CA1846825 |
388 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 388 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs41279768 RCV000896729 CA1846826 |
389 | R>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA348342790 rs1266169860 |
390 | E>A | No |
ClinGen gnomAD |
|
|
CA348342799 rs1356956445 |
391 | F>S | No |
ClinGen gnomAD |
|
|
rs760406679 CA1846828 |
392 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763789946 CA348342808 |
392 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs140739840 CA348342819 |
394 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140739840 CA1846830 |
394 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261975856 CA348342827 |
395 | Q>R | No |
ClinGen gnomAD |
|
|
CA1846867 rs201774653 |
396 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846870 rs762593731 |
399 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1846873 rs755099329 |
402 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA348343806 rs755099329 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767555801 CA1846874 |
403 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348343818 rs1473184416 |
404 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1473184416 CA348343816 |
404 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1846876 rs756350021 |
407 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 408 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200076386 CA1846878 COSM3713990 COSM3041219 |
410 | T>M | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1846880 rs779528562 |
412 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1573587929 CA348343878 |
412 | T>P | No |
ClinGen Ensembl |
|
|
CA1846882 rs768319229 COSM1669232 |
414 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs549220081 CA1846883 |
415 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 416 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1846884 rs561256507 |
416 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348343920 rs1573587973 |
416 | T>P | No |
ClinGen Ensembl |
|
|
CA1846885 rs769576483 |
417 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1846886 rs772740148 |
417 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846887 rs772740148 |
417 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846889 rs376692800 COSM315653 |
418 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs546900400 CA54628927 |
419 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1846891 rs767394433 |
420 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846892 rs752786678 |
423 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1846893 rs144758696 |
423 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA54628965 rs368774790 |
424 | Y>H | No |
ClinGen ESP |
|
|
rs753992611 CA1846895 |
427 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs753992611 CA348344039 |
427 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1846898 rs746192768 |
429 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1846899 rs746192768 |
429 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs538794610 CA54629030 |
433 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538794610 CA1846901 |
433 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538794610 CA1846900 |
433 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348344097 rs1453522713 |
434 | L>I | No |
ClinGen gnomAD |
|
|
CA348344104 rs1317443986 |
434 | L>P | No |
ClinGen TOPMed |
|
|
CA54629082 rs978221233 |
435 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348344120 rs1351534738 |
436 | L>R | No |
ClinGen gnomAD |
|
|
rs139983521 CA1846906 |
439 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139983521 CA1846905 |
439 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA54629103 rs910924823 |
440 | C>G | No |
ClinGen Ensembl |
|
|
CA1846908 COSM39553 rs771999099 |
441 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348344159 rs771999099 |
441 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760800930 CA1846910 |
442 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760800930 CA348344168 |
442 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348344184 rs1200415492 |
443 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1846911 rs201034733 |
445 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754125354 CA1846912 |
445 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761969248 CA1846913 |
446 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs765448684 CA1846914 |
447 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348344235 rs1175292158 |
449 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758832778 CA1846916 |
452 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1846917 rs780769514 |
453 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348344279 rs1558761190 |
454 | I>V | No |
ClinGen Ensembl |
|
|
rs777179124 CA1846920 |
455 | S>T | No |
ClinGen ExAC |
|
|
CA1846921 rs373263111 |
456 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846922 rs139180247 |
456 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846923 rs139180247 |
456 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1846924 rs377489086 |
457 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771841410 CA348344329 |
459 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771841410 CA1846925 |
459 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775455207 CA1846926 |
460 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA348344340 rs1320326905 |
460 | R>T | No |
ClinGen gnomAD |
|
|
rs776593892 CA1846930 |
462 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs776593892 CA1846929 |
462 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1846928 rs760495654 |
462 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1846931 rs765446095 |
464 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA348344386 rs1573588546 |
465 | W>G | No |
ClinGen Ensembl |
|
|
rs763463275 CA1846933 |
466 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1846932 rs750665147 |
466 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348344408 rs1573588572 |
467 | R>G | No |
ClinGen Ensembl |
|
|
rs751932904 CA1846935 |
467 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1573588589 CA348344426 |
468 | E>G | No |
ClinGen Ensembl |
|
|
CA1846936 rs755463675 |
468 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348344432 rs1478629777 |
469 | S>G | No |
ClinGen gnomAD |
|
|
CA348344444 rs1573588614 |
470 | T>P | No |
ClinGen Ensembl |
|
|
CA348344457 rs1292137766 |
471 | I>V | No |
ClinGen TOPMed |
|
|
rs886518078 CA54629249 |
473 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
RCV000902567 rs35619518 CA1846938 |
474 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745497289 CA1846941 |
476 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778595169 CA1846940 |
476 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1846942 rs375934185 |
477 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573588713 CA348344528 |
478 | D>A | No |
ClinGen Ensembl |
|
|
CA1846943 rs779851052 |
479 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1846945 rs768487970 |
480 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200886089 COSM1193376 CA1846949 |
483 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs141086904 CA1846950 |
485 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1005918 CA1846953 rs759879690 |
488 | V>I | Variant assessed as Somatic; 4.678e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759879690 CA348344627 |
488 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q658P3
[MIM: 615234]: Anemia, hypochromic microcytic, with iron overload 2 (AHMIO2)
A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly. {ECO:0000269|PubMed:22031863}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly. {ECO:0000269|PubMed:22031863}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| 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. |
| multivesicular body | A type of endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cupric reductase activity | Catalysis of the reaction: Cu+ + NAD+ + H+ = Cu2+ + NADH. |
| ferric-chelate reductase (NADPH) activity | Catalysis of the reaction: 2 Fe3+-siderophore + NADP(+) + H(+) -> 2 Fe2+-siderophore + NADPH. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor | Catalysis of an oxidation-reduction in which the metal ion is reduced and NAD+ or NADP+ acts as an electron acceptor. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| copper ion import | The directed movement of copper ions into a cell or organelle. |
| iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. |
| protein secretion | The controlled release of proteins from a cell. |
| transferrin transport | The directed movement of transferrin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UHE8 | STEAP1 | Metalloreductase STEAP1 | Homo sapiens (Human) | PR |
| Q8NFT2 | STEAP2 | Metalloreductase STEAP2 | Homo sapiens (Human) | PR |
| Q8BWB6 | Steap2 | Metalloreductase STEAP2 | Mus musculus (Mouse) | PR |
| Q8CI59 | Steap3 | Metalloreductase STEAP3 | Mus musculus (Mouse) | PR |
| Q9GL50 | STEAP1 | Metalloreductase STEAP1 | Sus scrofa (Pig) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPEEMDKPLI | SLHLVDSDSS | LAKVPDEAPK | VGILGSGDFA | RSLATRLVGS | GFKVVVGSRN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PKRTARLFPS | AAQVTFQEEA | VSSPEVIFVA | VFREHYSSLC | SLSDQLAGKI | LVDVSNPTEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EHLQHRESNA | EYLASLFPTC | TVVKAFNVIS | AWTLQAGPRD | GNRQVPICGD | QPEAKRAVSE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MALAMGFMPV | DMGSLASAWE | VEAMPLRLLP | AWKVPTLLAL | GLFVCFYAYN | FVRDVLQPYV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QESQNKFFKL | PVSVVNTTLP | CVAYVLLSLV | YLPGVLAAAL | QLRRGTKYQR | FPDWLDHWLQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HRKQIGLLSF | FCAALHALYS | FCLPLRRAHR | YDLVNLAVKQ | VLANKSHLWV | EEEVWRMEIY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSLGVLALGT | LSLLAVTSLP | SIANSLNWRE | FSFVQSSLGF | VALVLSTLHT | LTYGWTRAFE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ESRYKFYLPP | TFTLTLLVPC | VVILAKALFL | LPCISRRLAR | IRRGWEREST | IKFTLPTDHA |
| LAEKTSHV |