Q9H6L5
PR
Gene name |
RETREG1 |
Protein name |
Reticulophagy regulator 1 |
Names |
Reticulophagy receptor 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54463 |
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 Q9H6L5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7BRQ | X-ray | 140 A | A | 450-468 | PDB |
| 7FB5 | X-ray | 284 A | B | 451-476 | PDB |
| AF-Q9H6L5-F1 | Predicted | AlphaFoldDB |
431 variants for Q9H6L5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002462332 CA359293208 RCV001230601 rs1420598605 RCV001158111 |
4 | P>S | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000647303 rs894277583 CA114976563 RCV001158110 RCV002533337 |
6 | P>L | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002460892 RCV000794306 rs137852736 RCV001843420 RCV000789750 |
7 | P>missing | Neuropathy, hereditary sensory and autonomic, type 2B Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs532140281 RCV001343484 RCV002461312 CA3210550 |
7 | P>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002462144 rs532140281 RCV000795543 CA359293195 |
7 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000792072 CA114976560 RCV002462137 rs571527296 |
8 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV002461103 RCV000290998 CA3210548 rs759050645 RCV000702166 |
8 | E>K | Neuropathy, hereditary sensory and autonomic, type 2B Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002461954 RCV000647302 RCV001335568 rs759050645 CA3210549 |
8 | E>Q | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002462270 rs1239651905 RCV001042116 |
13 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661228 CA10577326 RCV002516202 RCV000221239 |
15 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1399809860 CA359293118 RCV001335569 |
19 | A>S | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000382893 RCV002523516 rs886060397 |
26 | S>missing | Hereditary sensory and autonomic neuropathy type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001158109 RCV000756131 CA3210546 COSM1619993 RCV002461955 rs528532732 |
29 | P>L | Neuropathy, hereditary sensory and autonomic, type 2B liver Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA359293035 RCV001882491 RCV001156451 rs1377991492 |
32 | A>P | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002462059 CA359293017 rs1368707514 RCV000706612 |
35 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs977346278 RCV001041348 RCV002551493 CA114976554 |
37 | R>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA114976552 rs1015748029 RCV000521211 RCV002461275 |
46 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001156450 rs1743528602 |
54 | G>R | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554026745 RCV002533338 RCV001315171 CA359292783 |
70 | W>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000236927 rs761526666 RCV002518433 CA3210524 |
94 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001156448 rs1743520200 |
99 | F>L | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002461139 CA3210490 RCV000756130 RCV000999776 rs78314670 RCV000444223 |
127 | R>C | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000657003 CA3210489 RCV000527046 RCV002461142 rs200871433 |
127 | R>H | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002562496 CA3210486 rs200174704 RCV001220109 |
132 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs137852737 RCV000760442 RCV000000358 CA251432 RCV000789751 |
145 | Q>* | Neuropathy, hereditary sensory and autonomic, type 2B Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000367896 rs886060396 CA10619945 |
148 | R>G | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001365606 rs779070741 CA3210424 RCV002461953 |
170 | C>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780286920 RCV002461956 RCV000647306 CA3210417 |
185 | M>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002462282 CA114759686 RCV001048569 rs1041379300 |
199 | L>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs143878016 CA3210392 RCV001000463 RCV002461027 RCV000540992 |
203 | V>M | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs368759467 CA3210348 RCV002461100 RCV001002203 RCV000523712 |
266 | R>C | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070026 RCV002555891 CA3210347 rs374340868 |
266 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814148 rs370636928 CA3210346 RCV002478894 |
268 | R>T | Neuropathy, hereditary sensory and autonomic, type 2A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000789749 rs886037748 RCV000185604 |
276 | S>missing | Neuropathy, hereditary sensory and autonomic, type 2B Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA359258194 RCV000702380 rs1430719865 RCV001868314 |
281 | S>G | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000000356 rs137852739 CA251429 RCV000789098 RCV000235652 |
309 | S>* | Neuropathy, hereditary sensory and autonomic, type 2B Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA3210282 RCV001298213 RCV002461099 RCV000305670 rs368457852 |
318 | T>I | Hereditary sensory and autonomic neuropathy type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368457852 CA3210281 RCV001152532 |
318 | T>N | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000647308 CA3210273 rs771586180 |
333 | D>E | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000685261 RCV002461098 rs886060395 RCV001312223 CA10624078 |
338 | P>L | Neuropathy, hereditary sensory and autonomic, type 2B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA341801 rs34432513 RCV000431969 VAR_032422 RCV000290526 RCV000545765 RCV002482894 |
379 | Q>E | Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61733811 RCV000398988 CA341804 RCV000558146 RCV000426631 |
382 | S>T | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750674196 RCV003166097 CA3210239 RCV000792954 |
385 | R>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000702427 rs374082497 RCV001201369 CA3210235 RCV002462052 |
390 | T>M | Neuropathy, hereditary sensory and autonomic, type 2B Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000344437 rs886060394 CA10621258 |
434 | Q>E | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002462278 rs909827415 RCV001045784 CA114754370 |
441 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA359255555 RCV000534205 RCV001853714 rs1186811814 |
473 | T>R | Neuropathy, hereditary sensory and autonomic, type 2B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000506405 RCV002461264 rs758081460 RCV000702424 |
485 | K>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3210554 rs758802919 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA359293221 rs1450302029 |
2 | A>S | No |
ClinGen gnomAD |
|
|
rs758802919 CA359293219 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1316601007 CA359293214 |
3 | S>T | No |
ClinGen TOPMed |
|
|
rs1214765005 CA359293207 |
4 | P>L | No |
ClinGen TOPMed |
|
|
rs1157304573 CA359293201 |
5 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1743541144 RCV001050859 |
5 | A>R | No |
ClinVar dbSNP |
|
|
CA114976564 rs550339729 |
5 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA359293200 rs1157304573 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001232200 rs779538816 CA3210552 |
6 | P>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs779538816 CA359293198 |
6 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186359476 CA359293193 |
7 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA359293194 rs532140281 |
7 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359293168 rs1290549319 |
11 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359293171 rs1352810971 RCV000519593 |
11 | E>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 13 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001201820 rs1743537160 |
14 | C>missing | No |
ClinVar dbSNP |
|
|
rs1377040439 CA359293144 |
14 | C>F | No |
ClinGen gnomAD |
|
|
CA359293148 rs1230054953 |
14 | C>R | No |
ClinGen gnomAD |
|
|
rs876661228 CA359293138 |
15 | P>R | No |
ClinGen Ensembl |
|
|
CA359293139 rs1383977493 |
15 | P>S | No |
ClinGen Ensembl |
|
|
CA359293131 rs1283717459 |
16 | A>V | No |
ClinGen gnomAD |
|
|
CA359293127 rs1400838793 |
17 | P>H | No |
ClinGen gnomAD |
|
|
CA359293126 rs1400838793 |
17 | P>R | No |
ClinGen gnomAD |
|
|
rs1211614420 CA359293128 |
17 | P>S | No |
ClinGen TOPMed |
|
|
rs1342682004 CA359293123 |
18 | A>T | No |
ClinGen gnomAD |
|
|
rs1399809860 CA359293117 |
19 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1743535497 RCV001320196 |
21 | E>RCPAPAAEE | No |
ClinVar dbSNP |
|
|
CA359293086 rs1167496869 |
23 | A>P | No |
ClinGen gnomAD |
|
|
rs1167496869 RCV001320011 |
23 | A>T | No |
ClinVar dbSNP |
|
|
CA359293083 rs1561141838 RCV001373744 |
23 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751270886 CA3210547 |
24 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA359293076 rs1477910110 |
25 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1579736678 CA359293072 |
25 | P>L | No |
ClinGen Ensembl |
|
|
CA359293075 rs1477910110 |
25 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1173457213 CA359293066 |
26 | S>L | No |
ClinGen TOPMed |
|
|
CA114976556 rs528532732 |
29 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289228532 CA359293030 |
32 | A>V | No |
ClinGen gnomAD |
|
|
CA359293026 RCV001068735 rs1326167901 |
33 | S>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 33 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001305135 rs1326167901 CA359293024 |
33 | S>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1276565042 CA359293020 |
34 | P>L | No |
ClinGen gnomAD |
|
|
rs1320217144 CA359293021 |
34 | P>S | No |
ClinGen gnomAD |
|
|
CA359293023 rs1320217144 RCV001051301 |
34 | P>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1220818958 CA359293012 |
35 | A>V | No |
ClinGen TOPMed |
|
|
rs977346278 CA359293001 |
37 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA359292995 rs1434928018 |
38 | Q>R | No |
ClinGen gnomAD |
|
|
rs1349821945 CA359292980 |
40 | Q>P | No |
ClinGen gnomAD |
|
|
rs965129261 CA114976553 |
41 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA359292968 rs1561141769 |
42 | E>K | No |
ClinGen Ensembl |
|
|
rs1425267707 CA359292963 |
42 | E>V | No |
ClinGen gnomAD |
|
|
CA359292949 rs1427601297 |
44 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1425607082 CA359292937 |
46 | E>Q | No |
ClinGen gnomAD |
|
|
CA359292927 rs1193392543 |
47 | A>G | No |
ClinGen TOPMed |
|
|
rs1252327162 CA359292917 |
49 | A>T | No |
ClinGen gnomAD |
|
|
rs1199294049 CA359292914 |
49 | A>V | No |
ClinGen gnomAD |
|
|
rs1401178287 CA359292913 |
50 | A>T | No |
ClinGen gnomAD |
|
|
rs888101623 CA114976549 |
52 | G>S | No |
ClinGen TOPMed |
|
|
rs1313056871 CA359292891 |
53 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1218241370 CA359292894 |
53 | A>T | No |
ClinGen gnomAD |
|
|
rs1313056871 CA359292889 |
53 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001347990 rs1743528524 |
54 | G>A | No |
ClinVar dbSNP |
|
|
CA359292875 rs1367469259 |
56 | Q>* | No |
ClinGen gnomAD |
|
|
RCV001069611 rs1743528094 |
56 | Q>H | No |
ClinVar dbSNP |
|
|
rs1172960356 CA359292863 |
57 | V>A | No |
ClinGen TOPMed |
|
|
CA359292851 rs1310657624 |
59 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1449714897 CA359292847 |
59 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs2560822 CA114976547 |
60 | A>T | No |
ClinGen Ensembl |
|
|
rs894415140 CA359292836 |
61 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359292840 rs1328776195 |
61 | A>T | No |
ClinGen gnomAD |
|
|
rs894415140 CA114976545 |
61 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1177913766 CA359292835 |
62 | G>S | No |
ClinGen gnomAD |
|
|
rs1431247597 CA359292829 |
63 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359292826 rs1056863965 |
63 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1056863965 CA114976544 |
63 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1431247597 CA359292828 |
63 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1179142157 CA359292807 |
67 | A>T | No |
ClinGen gnomAD |
|
|
CA359292798 rs1216217402 |
68 | V>A | No |
ClinGen TOPMed |
|
|
rs1440735508 CA359292794 |
69 | T>A | No |
ClinGen Ensembl |
|
|
CA359292792 rs1441540433 |
69 | T>N | No |
ClinGen gnomAD |
|
|
CA359292789 rs1579736280 RCV001338329 |
70 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 72 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1579736249 CA359292767 |
73 | G>A | No |
ClinGen Ensembl |
|
|
CA3210538 rs747031648 |
73 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747031648 CA3210539 |
73 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA359292755 rs780380167 |
75 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3210537 rs780380167 RCV000806082 |
75 | P>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs903039410 CA114976543 |
75 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1042864064 CA114976541 RCV001050459 |
77 | L>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001300247 rs746283428 CA3210535 |
78 | W>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1306388254 CA359292728 |
80 | G>C | No |
ClinGen gnomAD |
|
|
CA3210534 rs779168753 |
81 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA359292713 rs757656254 |
82 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3210533 rs757656254 |
82 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs754403913 CA3210532 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3210530 rs754596403 |
84 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424356638 CA359292707 |
84 | D>N | No |
ClinGen TOPMed |
|
|
CA114976540 rs939181332 |
86 | L>P | No |
ClinGen Ensembl |
|
|
rs766100737 CA3210528 |
88 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs750040156 CA3210527 |
88 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 89 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180304540 CA359292643 |
93 | L>P | No |
ClinGen gnomAD |
|
|
rs1264334326 CA359292641 |
94 | R>Q | No |
ClinGen gnomAD |
|
|
rs1554026716 RCV001301212 CA359292631 |
95 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776560421 CA3210523 |
96 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs989484098 CA114976539 |
97 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1314332944 CA359292598 |
101 | A>G | No |
ClinGen gnomAD |
|
|
CA359292601 rs932869164 |
101 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs932869164 CA114976538 |
101 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760809113 CA3210521 |
103 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA114971768 RCV001045931 rs200065908 |
107 | W>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3210501 CA3210502 rs200065908 |
107 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367935796 CA3210498 |
114 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265917411 CA359292499 |
115 | R>G | No |
ClinGen gnomAD |
|
|
CA359292492 rs1430621502 RCV001051047 |
116 | V>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs774497043 CA3210497 |
117 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467620688 CA359292470 |
119 | L>V | No |
ClinGen gnomAD |
|
|
CA359292451 rs1358489506 |
122 | V>D | No |
ClinGen TOPMed |
|
|
rs749712805 RCV001341329 CA3210495 COSM181855 |
122 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA359292447 rs1579695703 |
123 | M>V | No |
ClinGen Ensembl |
|
|
CA3210493 rs547425698 |
125 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001227521 rs547425698 |
125 | L>I | No |
ClinVar dbSNP |
|
|
CA3210492 rs748630718 |
126 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs78314670 CA359292421 RCV001313535 |
127 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359292417 rs1401114008 |
128 | V>L | No |
ClinGen gnomAD |
|
|
CA3210487 rs756870657 |
130 | M>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001242668 rs1742183967 |
135 | D>N | No |
ClinVar dbSNP |
|
|
CA359292359 rs1396044764 |
136 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3210485 rs777566287 |
137 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3210484 rs755872717 |
138 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3210483 rs752591398 |
139 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA359292340 rs752591398 |
139 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA359292327 rs1188830003 |
141 | T>A | No |
ClinGen TOPMed |
|
|
rs1193534798 CA359292323 |
141 | T>I | No |
ClinGen gnomAD |
|
|
rs995763555 CA114971766 |
142 | R>K | No |
ClinGen TOPMed |
|
|
rs1579689193 CA359292300 RCV000815175 |
143 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs767479017 CA3210482 |
143 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1255058019 CA359292288 |
145 | Q>P | No |
ClinGen gnomAD |
|
|
CA359292276 rs1354269383 |
147 | W>R | No |
ClinGen gnomAD |
|
|
CA3210466 RCV000695164 rs752534676 |
148 | R>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3210465 rs781034139 |
149 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs754922960 CA3210464 |
150 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA359292235 RCV001314147 rs1554022467 |
153 | S>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA359292231 rs1284914717 |
153 | S>N | No |
ClinGen gnomAD |
|
|
rs1242137077 CA359259827 |
154 | W>R | No |
ClinGen TOPMed |
|
|
CA359259804 rs201026378 |
155 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1266799231 CA359259798 |
155 | E>D | No |
ClinGen TOPMed |
|
|
RCV001207562 rs201026378 |
155 | E>K | No |
ClinVar dbSNP |
|
|
rs201026378 CA3210427 |
155 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001368774 rs758377163 CA3210426 |
156 | V>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA359259781 rs1207478755 |
157 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA114761254 rs954191893 |
161 | P>T | No |
ClinGen TOPMed |
|
|
rs558646113 CA3210425 |
163 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359259698 rs1479862115 |
163 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1413492220 CA359259669 RCV000792370 |
165 | P>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA114761243 rs997914792 |
166 | R>G | No |
ClinGen TOPMed |
|
|
CA359259595 rs1437251205 |
172 | A>T | No |
ClinGen Ensembl |
|
|
CA3210422 rs757242514 |
175 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1015218882 CA114761218 |
176 | M>K | No |
ClinGen TOPMed |
|
|
CA359259540 rs1456925930 |
176 | M>V | No |
ClinGen TOPMed |
|
|
CA359259509 rs1359506948 |
178 | F>C | No |
ClinGen gnomAD |
|
|
CA3210421 rs754094602 |
178 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1391010993 CA359259495 |
179 | S>G | No |
ClinGen TOPMed |
|
|
rs1561080941 CA359259491 |
179 | S>N | No |
ClinGen Ensembl |
|
|
rs764208459 CA3210420 |
180 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394431461 CA359259414 |
184 | E>A | No |
ClinGen gnomAD |
|
|
rs753030194 CA3210418 |
185 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3210419 rs756538225 |
185 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359259378 rs1176823129 |
186 | S>F | No |
ClinGen gnomAD |
|
|
CA3210415 rs774683360 RCV001323332 |
187 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
CA359259319 rs1347729442 |
190 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs941182270 CA114761199 RCV000807598 |
191 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA359259297 rs1265656520 |
192 | S>N | No |
ClinGen TOPMed |
|
|
rs761174049 CA3210412 |
192 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215913339 CA359259287 |
193 | P>S | No |
ClinGen TOPMed |
|
|
CA3210396 rs752124339 |
196 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA359259054 rs1458501101 |
198 | L>F | No |
ClinGen gnomAD |
|
|
CA3210394 rs761449366 |
199 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1024484804 CA114759674 |
200 | V>I | No |
ClinGen TOPMed |
|
|
rs763886231 RCV000414431 CA16042595 |
202 | S>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA359259029 rs1361997796 |
202 | S>T | No |
ClinGen TOPMed |
|
|
RCV001337392 rs1579584383 CA359259008 |
205 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1298604346 CA359259004 |
206 | F>Y | No |
ClinGen TOPMed |
|
|
RCV001051612 CA3210391 rs369276135 |
208 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA114759593 rs931870317 |
213 | Y>* | No |
ClinGen Ensembl |
|
|
CA359258947 rs1468523663 |
214 | I>S | No |
ClinGen gnomAD |
|
|
CA3210388 rs774413568 |
214 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359258935 rs1412581367 |
216 | G>A | No |
ClinGen TOPMed |
|
|
VAR_068477 rs1579584286 CA359258939 |
216 | G>R | found in a patient with HSAN2B; uncertain pathological significance; dramatically enhances homooligomerization which results in aberrant endoplasmic reticulum scission and excessive reticulophagy; induces sensory neuron death in vitro [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
CA359258932 rs866566794 |
217 | V>F | No |
ClinGen gnomAD |
|
|
rs866566794 CA114759589 |
217 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770744307 CA3210387 |
221 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1314169969 CA359258898 |
222 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 223 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379332584 CA359258892 |
223 | L>P | No |
ClinGen TOPMed |
|
|
CA3210364 rs769879385 |
225 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000689460 rs748217475 CA3210362 |
229 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
RCV001323591 CA359258811 rs1389950630 |
231 | P>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001297011 rs1389950630 CA359258807 |
231 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA3210360 rs768725177 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs747446867 CA3210359 RCV001202241 |
235 | C>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs367886987 CA3210358 |
237 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1437065438 CA359258728 |
237 | D>Y | No |
ClinGen gnomAD |
|
|
rs765165944 RCV001037371 |
237 | D>missing | No |
ClinVar dbSNP |
|
|
COSM70690 rs991974394 CA114757838 |
238 | I>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA359258655 RCV000813709 rs1579580998 |
242 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1738651185 RCV001044728 |
243 | Y>H | No |
ClinVar dbSNP |
|
|
rs1211346227 CA359258617 |
245 | K>I | No |
ClinGen gnomAD |
|
|
CA359258618 rs1211346227 RCV000803396 |
245 | K>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1738650337 RCV001212355 |
246 | I>M | No |
ClinVar dbSNP |
|
| TCGA novel | 247 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1579580959 CA359258579 |
248 | S>A | No |
ClinGen Ensembl |
|
|
RCV001856248 rs1172646761 CA359258574 |
248 | S>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV001322500 rs372401503 CA3210353 |
249 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372401503 CA359258571 |
249 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359258531 rs1250739128 |
253 | L>V | No |
ClinGen gnomAD |
|
|
CA114757750 rs950385242 |
256 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 259 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3210350 rs751185980 |
259 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001036675 rs1738646700 |
263 | Q>* | No |
ClinVar dbSNP |
|
|
rs564789943 CA3210349 |
263 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000235622 CA10584272 rs374340868 |
266 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359258395 rs368759467 |
266 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359258367 rs200587445 |
269 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3210344 rs200587445 |
269 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000479581 rs1064796582 CA16618161 |
270 | E>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs162848 CA359258296 |
272 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 274 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190939710 CA359258275 |
274 | E>G | No |
ClinGen TOPMed |
|
|
rs1215543753 CA359258251 |
276 | S>C | No |
ClinGen gnomAD |
|
|
RCV000806931 rs1268915345 CA359258229 |
278 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA359258216 rs1244307728 |
279 | D>G | No |
ClinGen TOPMed |
|
|
CA359258202 rs1476063908 |
280 | D>G | No |
ClinGen TOPMed |
|
|
rs867692161 CA114757126 |
282 | E>K | No |
ClinGen Ensembl |
|
|
CA3210323 rs764087267 |
283 | L>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001313061 CA3210322 rs760751442 |
284 | D>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1360157434 CA359258117 |
288 | L>H | No |
ClinGen TOPMed |
|
|
CA359258121 rs1164406581 |
288 | L>V | No |
ClinGen TOPMed |
|
|
CA359258089 rs1410294018 |
291 | K>E | No |
ClinGen gnomAD |
|
|
rs759867729 CA3210300 |
292 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs767446730 CA3210301 |
292 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001071101 rs1738603998 |
293 | S>R | No |
ClinVar dbSNP |
|
|
rs1231481315 CA359258054 RCV001299986 |
294 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs371709887 COSM736880 COSM1150020 CA3210299 |
295 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1283053891 CA359258036 |
297 | A>V | No |
ClinGen gnomAD |
|
|
rs1456722158 CA359258033 |
298 | A>S | No |
ClinGen TOPMed |
|
|
rs773655955 CA3210296 |
300 | E>K | No |
ClinGen ExAC |
|
|
CA359257977 rs1260385728 |
302 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1260385728 CA359257976 |
302 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA16042513 rs1057518447 RCV000413909 |
302 | S>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs201403958 CA3210292 |
303 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202823800 CA359257975 |
303 | V>M | No |
ClinGen gnomAD |
|
|
CA114756747 rs113649678 |
304 | S>C | No |
ClinGen Ensembl |
|
|
CA3210289 rs745526194 RCV001351062 |
308 | V>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs771533105 CA3210290 |
308 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137852739 CA3210287 |
309 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753663400 CA3210285 |
314 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3210284 rs371924017 |
316 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756099599 CA3210283 |
318 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs368457852 CA359257775 |
318 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755049105 CA3210280 |
320 | N>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001055051 rs755049105 |
320 | N>T | No |
ClinVar dbSNP |
|
|
COSM181836 RCV001349258 CA359257734 rs1554014877 |
322 | S>P | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1738596466 RCV001302395 |
325 | Y>D | No |
ClinVar dbSNP |
|
|
rs751885974 CA3210279 |
325 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1254846457 CA359257695 |
326 | T>P | No |
ClinGen gnomAD |
|
|
CA359257687 rs1209980699 |
326 | T>S | No |
ClinGen gnomAD |
|
|
rs773599540 CA3210276 |
327 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3210277 rs773599540 |
327 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs556619501 CA3210275 |
328 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA114756566 rs764171344 |
330 | D>N | No |
ClinGen Ensembl |
|
|
CA3210274 RCV001301226 rs762417636 |
331 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA359257639 rs1330411518 |
331 | T>P | No |
ClinGen TOPMed |
|
|
CA3210256 rs757589129 |
335 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA359256917 rs751914179 |
336 | D>E | No |
ClinGen gnomAD |
|
|
CA3210255 rs750575538 RCV000691467 |
337 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs886060395 CA114754700 |
338 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359256841 rs1175511459 |
342 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 344 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3210253 rs762028359 |
344 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3210252 rs777182419 |
345 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1245607406 CA359256787 |
346 | D>N | No |
ClinGen gnomAD |
|
|
CA359256774 rs1187418316 |
347 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359256735 rs1561075989 |
349 | D>E | No |
ClinGen Ensembl |
|
|
CA359256742 RCV001229060 rs1468614294 |
349 | D>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs77967042 CA3210250 RCV001068723 |
351 | P>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs773828945 CA3210249 |
352 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770388197 CA3210248 |
355 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA359256613 rs1268135968 |
357 | M>I | No |
ClinGen Ensembl |
|
|
rs772681100 RCV001295414 CA3210246 |
358 | G>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1223271020 CA359256589 |
359 | T>K | No |
ClinGen TOPMed |
|
|
CA359256518 rs200156015 RCV001201752 |
363 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1321800617 CA359256442 |
369 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 371 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386477498 CA359256409 |
372 | E>D | No |
ClinGen gnomAD |
|
|
rs1219994971 CA359256419 |
372 | E>K | No |
ClinGen TOPMed |
|
|
CA359256387 rs1272625693 |
374 | K>R | No |
ClinGen TOPMed |
|
|
CA359256368 rs1263823909 |
377 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs895789647 CA114754620 |
377 | K>T | No |
ClinGen TOPMed |
|
|
CA359256360 rs1187069453 |
378 | E>Q | No |
ClinGen gnomAD |
|
|
rs1282248296 RCV001214077 CA359256349 |
379 | Q>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs746890065 CA3210242 |
379 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA359256323 rs1174866772 |
383 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1454316456 CA359256321 |
383 | G>D | No |
ClinGen gnomAD |
|
|
rs943804040 CA114754584 |
384 | H>Q | No |
ClinGen TOPMed |
|
|
CA359256303 rs1450692898 |
386 | P>Q | No |
ClinGen gnomAD |
|
|
CA359256302 rs1450692898 |
386 | P>R | No |
ClinGen gnomAD |
|
|
CA359256306 rs1427260133 |
386 | P>T | No |
ClinGen TOPMed |
|
|
rs757708271 CA3210236 |
389 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359256281 rs757708271 RCV001298821 |
389 | E>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3210238 rs778992505 |
389 | E>Q | No |
ClinGen ExAC |
|
|
RCV001206072 rs1738475876 |
391 | Q>* | No |
ClinVar dbSNP |
|
|
CA3210233 rs761201425 |
391 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910973014 CA114754547 |
395 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001235924 rs1738470249 |
396 | L>P | No |
ClinVar dbSNP |
|
|
RCV001371175 rs753136289 CA3210232 |
403 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3210231 rs377117770 |
405 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359256166 rs1554014624 RCV001314412 |
407 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3210229 rs772981635 |
409 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1057518317 RCV001341966 |
409 | M>R | No |
ClinVar dbSNP |
|
|
CA16042593 rs1057518317 RCV000413728 |
409 | M>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA3210228 rs368977135 |
410 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547000072 CA3210227 |
410 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374730030 CA3210226 |
410 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 412 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs937176400 CA114754434 |
413 | A>T | No |
ClinGen TOPMed |
|
|
CA359256126 rs1477461691 |
413 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001299617 rs780084870 CA3210223 |
417 | I>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1390213140 CA359256103 |
417 | I>T | No |
ClinGen TOPMed |
|
|
CA359256089 rs1423480079 |
419 | A>G | No |
ClinGen TOPMed |
|
|
RCV000803641 rs1579575180 CA359256077 |
421 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1250875678 CA359256066 |
423 | A>E | No |
ClinGen gnomAD |
|
|
rs1161943945 CA359256069 |
423 | A>T | No |
ClinGen TOPMed |
|
|
rs1393596252 CA359256061 |
424 | A>S | No |
ClinGen TOPMed |
|
|
rs745933157 CA3210221 |
425 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359256010 rs1561075583 |
430 | E>G | No |
ClinGen Ensembl |
|
|
rs779237404 CA3210220 |
433 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs961559063 CA359255956 |
435 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs961559063 CA114754386 |
435 | A>V | No |
ClinGen gnomAD |
|
|
CA3210219 rs757398783 |
440 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909827415 CA359255897 |
441 | P>T | No |
ClinGen TOPMed gnomAD |
|
| rs1294300253 | 442 | I>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928508465 CA114754358 |
446 | D>V | No |
ClinGen TOPMed |
|
|
CA359255847 rs1417103487 |
446 | D>Y | No |
ClinGen gnomAD |
|
|
RCV001340222 CA359255808 rs1339247126 |
449 | T>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1738457802 RCV001348349 |
451 | E>K | No |
ClinVar dbSNP |
|
|
CA3210217 rs778114904 |
453 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001248402 rs1738456492 |
456 | E>missing | No |
ClinVar dbSNP |
|
|
rs752838156 CA114754317 |
458 | L>R | No |
ClinGen Ensembl |
|
|
RCV001314522 rs1554014585 CA359255711 |
460 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1738455329 RCV001221230 |
467 | E>G | No |
ClinVar dbSNP |
|
|
CA3210215 rs753259026 |
468 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3210214 rs767905102 |
469 | E>K | No |
ClinGen ExAC |
|
|
rs1235636259 CA359255572 |
471 | G>A | No |
ClinGen gnomAD |
|
|
RCV001305136 rs1554014580 CA359255565 |
472 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1186811814 CA359255552 |
473 | T>I | No |
ClinGen gnomAD |
|
|
CA3210212 rs749875801 |
474 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201105918 CA3210211 |
475 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761585250 CA3210210 |
476 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761585250 RCV001327225 CA114754224 |
476 | Q>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3210209 rs201304171 |
478 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001224381 rs1738452474 |
478 | A>V | No |
ClinVar dbSNP |
|
|
CA3210208 TCGA novel rs768588742 RCV000522654 |
481 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC dbSNP gnomAD NCI-TCGA |
|
rs1738452001 RCV001304035 |
483 | N>S | No |
ClinVar dbSNP |
|
|
rs1561075333 CA359255391 |
484 | K>R | No |
ClinGen Ensembl |
|
|
CA359255375 rs1235561976 |
485 | K>T | No |
ClinGen gnomAD |
|
|
CA114754210 rs765301306 |
488 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA359255345 rs1284097803 |
488 | G>S | No |
ClinGen gnomAD |
|
|
CA114754190 rs913968378 |
490 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1158524898 CA359255306 |
491 | S>* | No |
ClinGen TOPMed |
|
|
CA3210206 rs375232152 |
492 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359255254 rs1432365396 |
495 | G>A | No |
ClinGen gnomAD |
|
|
CA359255249 rs1165247696 |
496 | G>S | No |
ClinGen gnomAD |
|
|
rs746011053 RCV001301943 CA3210203 |
497 | H>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
1 associated diseases with Q9H6L5
[MIM: 613115]: Neuropathy, hereditary sensory and autonomic, 2B (HSAN2B)
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response. {ECO:0000269|PubMed:19838196}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response. {ECO:0000269|PubMed:19838196}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9H6L5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H6L5 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cis-Golgi network | The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum 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. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| endoplasmic reticulum-autophagosome adaptor activity | The binding activity of a molecule that brings together an ER membrane and an autophagosome during reticulophagy. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| collagen catabolic process | The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells. |
| endoplasmic reticulum organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum. |
| mitophagy | The selective autophagy process in which a mitochondrion is degraded by macroautophagy. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
| reticulophagy | The selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions. |
| sensory perception of pain | The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. |
| white fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a white adipocyte, an animal connective tissue cell involved in energy storage. White adipocytes have cytoplasmic lipids arranged in a unique vacuole. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9K8 | RETREG1 | Reticulophagy regulator 1 | Bos taurus (Bovine) | PR |
| Q86VR2 | RETREG3 | Reticulophagy regulator 3 | Homo sapiens (Human) | PR |
| Q6NS82 | Retreg2 | Reticulophagy regulator 2 | Mus musculus (Mouse) | PR |
| Q9CQV4 | Retreg3 | Reticulophagy regulator 3 | Mus musculus (Mouse) | PR |
| Q8VE91 | Retreg1 | Reticulophagy regulator 1 | Mus musculus (Mouse) | PR |
| Q5FVM3 | Retreg1 | Reticulophagy regulator 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASPAPPEHA | EEGCPAPAAE | EQAPPSPPPP | QASPAERQQQ | EEEAQEAGAA | EGAGLQVEEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGRAAAAVTW | LLGEPVLWLG | CRADELLSWK | RPLRSLLGFV | AANLLFWFLA | LTPWRVYHLI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SVMILGRVIM | QIIKDMVLSR | TRGAQLWRSL | SESWEVINSK | PDERPRLSHC | IAESWMNFSI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FLQEMSLFKQ | QSPGKFCLLV | CSVCTFFTIL | GSYIPGVILS | YLLLLCAFLC | PLFKCNDIGQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KIYSKIKSVL | LKLDFGIGEY | INQKKRERSE | ADKEKSHKDD | SELDFSALCP | KISLTVAAKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSVSDTDVSE | VSWTDNGTFN | LSEGYTPQTD | TSDDLDRPSE | EVFSRDLSDF | PSLENGMGTN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DEDELSLGLP | TELKRKKEQL | DSGHRPSKET | QSAAGLTLPL | NSDQTFHLMS | NLAGDVITAA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VTAAIKDQLE | GVQQALSQAA | PIPEEDTDTE | EGDDFELLDQ | SELDQIESEL | GLTQDQEAEA |
| 490 | |||||
| QQNKKSSGFL | SNLLGGH |