Q6P1J9
PR
Gene name |
CDC73 (C1orf28, HRPT2) |
Protein name |
Parafibromin |
Names |
Cell division cycle protein 73 homolog, Hyperparathyroidism 2 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79577 |
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
9 structures for Q6P1J9
394 variants for Q6P1J9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs28942098 RCV000579066 RCV000003424 |
1 | M>I | Hyperparathyroidism 2 with jaw tumors [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553277483 RCV000623617 |
1 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706820 rs1558276054 |
1 | M>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000463923 rs1060500020 |
2 | A>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675462891 RCV001209295 |
3 | D>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002374954 rs1675462949 RCV001060938 RCV002482051 |
3 | D>G | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675463101 RCV001063458 |
4 | V>L | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587776561 RCV000003442 |
5 | L>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064928 | 5 | L>del | HRPT2; unknown pathological significance; found as somatic mutation in a parathyroid carcinoma sample from a patient who also carries a germline mutation causing a splicing defect [UniProt] | Yes | UniProt |
|
CA252644 rs121434262 RCV000003425 COSM26056 RCV002426483 RCV002512708 |
9 | R>* | Hyperparathyroidism 2 with jaw tumors Hereditary cancer-predisposing syndrome parathyroid Parathyroid carcinoma [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1558276082 RCV000702833 |
11 | Y>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1303247 rs762220544 RCV001315716 |
13 | I>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1303248 rs767638609 RCV002327267 RCV001039668 |
14 | Q>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000816204 rs1572139757 |
16 | K>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001307681 rs1675464429 |
16 | K>E | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587776557 RCV000003432 |
18 | I>missing | Cystic parathyroid adenoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687778 rs1558276157 |
18 | I>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500013 CA16609961 RCV000458173 |
19 | V>M | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001241910 rs1675465013 |
22 | G>* | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061587 rs1675465059 |
22 | G>A | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002400305 rs1675465327 RCV001052674 |
26 | I>V | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA34407940 RCV000638116 rs1054465259 |
28 | G>A | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000003441 rs587776560 |
29 | E>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691698 CA343972911 RCV000493922 RCV001060944 |
29 | E>* | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343972927 rs1558276199 RCV000689930 |
31 | S>Y | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343972972 rs1355286253 RCV000803442 |
37 | K>N | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA252648 COSM26046 rs121434263 RCV000003430 |
43 | W>* | parathyroid Parathyroid carcinoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000793445 rs200806263 RCV001011689 CA1303277 |
49 | G>C | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV000800881 CA343973064 rs1276311364 |
50 | Q>R | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1675541893 RCV001245622 |
53 | E>* | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811735 CA343973085 rs1572142551 |
53 | E>G | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA252653 COSM26051 RCV000003433 COSM86065 rs121434265 |
54 | Y>* | parathyroid Parathyroid carcinoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001013157 rs1572142567 CA343973132 |
60 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_064931 RCV000472304 CA16609951 rs1060500015 |
63 | L>P | Parathyroid carcinoma HRPT1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001851616 CA252651 RCV000003431 VAR_024082 rs121434264 |
64 | L>P | Hyperparathyroidism 1 (hrpt1) Hyperparathyroidism 1 Parathyroid carcinoma HRPT1; does not affect interaction with the Pfa1 complex [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001066111 RCV002418542 rs1675542823 |
66 | N>D | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3689228 CA1303281 RCV001237371 rs748952219 |
67 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine Parathyroid carcinoma [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1675543142 RCV001351545 |
69 | L>F | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986475 rs1572142597 |
74 | Y>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203213 rs886041158 COSM26063 CA10602771 RCV000398502 |
76 | R>* | large_intestine Variant assessed as Somatic; impact. parathyroid Parathyroid carcinoma [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1572142617 CA343973244 RCV000793956 |
77 | R>H | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500009 RCV000458654 |
82 | N>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1303302 RCV001244149 rs754686636 |
84 | P>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001310104 RCV001049577 RCV001198546 rs1558280170 |
91 | R>* | Familial cancer of breast Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064933 | 95 | L>P | HRPT1; unknown pathological significance; found as somatic mutation in a parathyroid adenoma sample from a patient who also carries a germline frameshift mutation [UniProt] | Yes | UniProt |
|
CA16609955 RCV000467906 rs1060500017 |
99 | N>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338333 RCV002447391 rs1675671504 |
102 | A>S | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035594 rs1675671504 |
102 | A>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299898 rs1675671751 |
103 | S>P | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224310 rs1675773683 |
104 | T>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348704 RCV002322296 rs1675773790 RCV002493794 |
105 | S>L | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002487712 RCV002325554 RCV000803683 CA343960321 rs1572150421 |
107 | S>N | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002323948 CA343960330 RCV000557420 rs1475793228 |
108 | I>V | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM901380 CA34369324 rs952579366 RCV001020057 |
112 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001072092 rs1675774810 |
114 | L>F | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675774944 RCV001240823 |
117 | G>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886041278 RCV001381894 CA10602772 RCV000341460 |
119 | Q>* | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795507 CA343960494 RCV002458429 COSM1689459 rs1572150469 |
120 | R>* | Hereditary cancer-predisposing syndrome skin Parathyroid carcinoma [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002348401 rs763095800 RCV002479321 CA343960511 RCV001051842 |
122 | T>A | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000003434 rs1572150584 |
126 | R>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350233 rs1553278844 RCV002282213 RCV000550505 CA343960611 |
126 | R>* | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312297 rs1675777366 |
126 | R>Q | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675777420 RCV001035242 |
127 | A>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698714 CA343960625 RCV002507218 rs1558282443 RCV002352173 |
127 | A>V | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002352106 RCV000684882 CA1303352 rs756584058 |
128 | A>T | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1675777865 RCV001247048 |
129 | D>G | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA34369428 rs769052041 RCV000558485 RCV001021438 |
131 | V>I | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1675778193 RCV003166807 RCV001315790 |
135 | A>G | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002326820 RCV000696033 CA157939 RCV000120494 rs369542555 |
138 | P>T | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1675778391 RCV001222342 |
139 | R>Q | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675778444 RCV001205165 |
140 | I>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558283535 RCV001314115 |
144 | E>K | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002329292 rs1675832296 RCV001327066 |
145 | C>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500019 RCV000477581 |
152 | R>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM209248 CA343961189 rs1572152406 RCV000821355 |
156 | R>H | large_intestine Parathyroid carcinoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001561958 rs1572152420 RCV000781204 |
160 | H>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553279085 RCV000638120 |
162 | E>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343961378 rs1553279088 RCV000526998 |
169 | Q>* | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459260 CA16609966 rs1060500016 |
207 | A>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002367832 RCV000547661 CA343962565 rs1455683303 |
209 | K>Q | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001214212 rs1675913675 |
214 | V>M | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000344041 RCV002374495 RCV000296231 rs886045713 CA10608625 RCV000397786 |
220 | V>A | Hyperparathyroidism 2 with jaw tumors Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002363129 RCV003223680 RCV002507424 rs770439843 RCV000815729 CA343962714 |
222 | R>* | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA343962715 rs1572154825 RCV000813220 |
222 | R>Q | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776394390 CA1303428 RCV000816013 |
223 | D>G | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001050721 rs1675914120 |
224 | I>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000664206 RCV000003428 rs80356649 RCV000003427 |
227 | R>missing | Hyperparathyroidism 2 with jaw tumors Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002506088 rs145694828 CA1303433 RCV000462580 RCV002365583 |
227 | R>K | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001232479 rs368708158 |
228 | E>D | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000003438 RCV000003439 rs760591174 |
229 | R>missing | Parathyroid gland adenoma Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035177 rs1675914685 |
229 | R>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002500813 RCV000480915 RCV002365215 RCV000226610 rs760591174 |
230 | V>missing | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343962771 RCV000810279 rs1558285020 |
230 | V>A | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558285020 RCV000699272 CA343962770 |
230 | V>E | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609976 rs1060500022 RCV000470979 |
231 | W>R | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001269979 RCV001880200 rs1675915231 |
234 | R>* | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064191 RCV002479377 RCV002365751 rs1675915480 |
237 | I>V | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000817698 rs1572154885 |
240 | S>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026167 CA343962843 rs1572154890 RCV001323864 |
241 | T>A | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002482108 RCV001066852 rs1675915771 |
243 | K>M | Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368199363 RCV001218410 RCV002379822 CA1303455 RCV002480719 |
244 | N>S | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002393655 CA34377791 rs973863694 RCV001246536 |
249 | I>T | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001247870 rs1676029137 |
251 | A>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222413 CA1303456 RCV002393539 rs374290883 |
252 | I>V | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs80356650 RCV002260511 RCV000020885 |
256 | V>missing | Hyperparathyroidism 2 with jaw tumors Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1472498930 RCV001230503 RCV002393572 CA343963931 |
256 | V>I | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000229382 RCV002411061 CA10581760 rs878855091 |
263 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Parathyroid carcinoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1307745420 RCV001066219 RCV002418544 |
263 | R>H | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343964092 RCV001221742 RCV002418765 rs1335804597 |
265 | P>L | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA343964146 RCV000540952 rs750706815 RCV002420409 |
268 | R>P | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1303462 RCV002420408 rs750706815 RCV000528491 |
268 | R>Q | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1303463 rs370333081 RCV002420410 RCV000552583 |
269 | P>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001051920 rs1572158663 |
269 | P>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1303464 rs765029460 RCV002499645 RCV001326998 |
271 | P>A | Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs765029460 RCV001220187 |
271 | P>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752383339 RCV002422495 RCV000690769 CA343964209 |
272 | N>I | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000638113 RCV002420717 VAR_064934 CA1303465 rs752383339 |
272 | N>S | Hereditary cancer-predisposing syndrome Parathyroid carcinoma found in a parathyroid adenoma sample [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002431927 CA1303466 RCV001325424 rs758391256 RCV002486304 |
275 | P>S | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001315994 rs1676083095 |
278 | P>L | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447265 COSM1337378 CA1303483 RCV002241692 rs754070093 RCV001296246 |
281 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Parathyroid carcinoma [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001221778 RCV002256706 CA1303484 RCV001819916 rs762716583 |
281 | R>H | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002476135 RCV000533137 CA1303485 RCV002413493 rs201236330 |
282 | T>A | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs369024183 RCV000470227 CA16609988 RCV002446764 |
282 | T>S | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001017877 CA343964938 rs1572160304 |
283 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062064 rs1676083588 |
283 | K>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324231 RCV002412040 rs773602413 CA34379467 |
284 | Q>H | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001326860 CA343964979 rs1362923384 |
286 | I>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA343965097 RCV000797688 rs1572160332 |
294 | D>G | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001316172 rs1676084476 |
298 | F>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305922 rs376649069 CA1303516 |
308 | K>R | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1676130837 RCV001066579 |
322 | S>C | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001349325 rs1677131810 |
327 | A>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209062 rs1436120903 COSM1742968 CA344076103 |
329 | A>S | biliary_tract Parathyroid carcinoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001543130 RCV000468059 CA1303709 RCV002473006 rs149875598 RCV001019869 |
330 | R>Q | Hyperparathyroidism 2 with jaw tumors Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1244272523 RCV002379775 CA344076108 RCV001204769 |
330 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Parathyroid carcinoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1677132309 RCV001047698 |
334 | T>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA344076142 rs1476163101 RCV001009665 RCV000807853 |
335 | P>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001239967 rs779180488 |
335 | P>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs993696396 RCV002360550 RCV000638112 CA35097859 |
338 | Q>P | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA344076165 rs1060500018 RCV001049759 RCV002339252 |
339 | P>L | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060500018 RCV000459673 RCV002339108 CA16609967 |
339 | P>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002356631 CA16609973 RCV002488996 rs1060500021 RCV000461848 |
340 | V>I | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002409460 RCV001056201 rs1572196474 |
341 | P>S | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000545170 rs1553288361 CA344077436 |
347 | A>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221262 rs1677289364 |
347 | A>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469468 CA16609990 rs773264613 |
350 | P>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000558035 rs1553288362 |
351 | P>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1677289748 RCV002402436 RCV001061443 |
352 | N>S | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319794 rs1677289784 |
355 | K>N | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003168723 rs1060500010 CA16609978 RCV000471251 |
359 | T>A | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238107 rs1677295002 |
360 | P>L | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770734388 RCV000694051 CA1303768 |
360 | P>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002429466 RCV003144265 RCV002480338 RCV000476915 rs776519655 CA1303769 |
361 | I>V | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001307509 rs1358233620 |
368 | T>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762532730 CA1303773 RCV001213449 |
369 | T>A | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1677295843 RCV001204598 |
377 | A>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342396 rs1677295923 |
378 | K>E | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1303777 RCV003151770 RCV000474303 rs774536123 RCV002451061 |
379 | D>E | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001071596 VAR_064936 CA35098896 rs971586985 RCV002320358 |
379 | D>N | Hereditary cancer-predisposing syndrome Parathyroid carcinoma HRPT2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000534419 CA157936 RCV002453441 RCV000120493 rs587778167 |
383 | D>E | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377215814 RCV000809064 CA344077684 |
384 | L>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1470371131 CA344077722 RCV001048917 |
388 | P>A | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1677687458 RCV001067430 |
389 | S>T | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1677687568 RCV001218012 |
390 | D>H | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767993995 CA344077755 RCV000638119 |
392 | K>N | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002341652 rs1677687636 RCV001318432 |
394 | K>missing | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336663 rs374856513 CA1303799 RCV000810187 |
395 | Q>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001227179 rs866793539 |
396 | G>S | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855088 CA10581761 RCV000231799 |
398 | Q>L | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001218311 rs1677688362 |
399 | R>G | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1677688538 RCV001299310 |
403 | T>I | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA344077855 rs1572215316 RCV000815159 |
407 | R>K | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1677688718 RCV001046443 |
408 | R>G | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1242516197 RCV002375300 RCV001246229 CA344077886 |
411 | Q>P | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757006970 CA1303805 RCV002367831 RCV002506324 RCV000559332 |
412 | M>I | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1303804 RCV001295141 rs752959843 RCV002365928 RCV001206138 |
412 | M>L | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV000700695 RCV002369923 CA344077892 rs752959843 |
412 | M>V | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA344077899 rs1553291031 RCV000535760 |
413 | Q>E | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002379610 rs1297552782 RCV001068214 |
414 | P>S | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572215344 RCV000815039 |
416 | G>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553291033 RCV002395352 CA344077923 RCV000548414 |
416 | G>A | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572215351 RCV002397648 RCV000806977 CA344077925 |
417 | T>A | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA344077924 rs1572215351 RCV003166265 RCV000807493 |
417 | T>P | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA344077937 rs1198867364 RCV001239602 |
419 | I>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002447317 rs1677690233 RCV001308413 |
425 | Y>C | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002482952 RCV003153326 RCV002381287 RCV000034781 rs202209013 CA215914 RCV000473561 |
435 | M>T | Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002386034 RCV000638122 CA344078056 rs1344996460 |
436 | P>L | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA344078055 RCV000818755 RCV002381851 rs1344996460 |
436 | P>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001099301 RCV002379648 RCV001099299 rs1677756402 RCV001099300 |
442 | V>I | Hyperparathyroidism 2 with jaw tumors Hereditary cancer-predisposing syndrome Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001099302 RCV001580090 CA1303837 rs368442389 RCV002487085 RCV000228358 COSM901401 RCV001101291 RCV001011102 |
445 | V>I | Hyperparathyroidism 2 with jaw tumors Hereditary cancer-predisposing syndrome endometrium Variant assessed as Somatic; 4.62e-05 impact. Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA344078161 RCV000541419 rs1553291414 |
451 | A>T | Variant assessed as Somatic; impact. Parathyroid carcinoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1444457760 RCV001350760 CA344078196 |
455 | K>R | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA344078247 rs1572217735 RCV000822831 |
462 | P>R | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1199579887 CA344078243 RCV001011271 RCV000638118 |
462 | P>S | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1677757493 RCV001070229 |
468 | D>Y | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207874 rs1677757559 |
469 | I>missing | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1252554973 RCV003117731 RCV001060019 CA344078288 RCV002393292 |
469 | I>V | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1677757689 RCV002393489 RCV001213689 |
472 | K>E | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1678015324 RCV001338369 RCV002493737 |
474 | K>R | Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464692 rs1060500025 CA16610000 |
478 | L>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000524781 rs1553292962 CA344078378 |
480 | Y>D | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001057988 rs1678015613 |
481 | D>Y | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986476 RCV002391047 CA344078407 rs1225502334 |
484 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Parathyroid carcinoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA1303866 RCV000796416 rs774557338 RCV002388441 |
484 | R>H | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1678015855 RCV001229994 |
487 | P>L | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1199025166 RCV000689903 CA344078477 RCV002388224 |
494 | V>I | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000688630 CA344078484 rs1558326136 |
495 | T>A | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA344078524 rs1553292970 RCV003159797 RCV000554230 |
501 | Y>H | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702306 RCV003165879 CA344078553 rs1558326147 |
505 | H>Y | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Parathyroid carcinoma [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1678017026 RCV001313562 |
507 | D>Y | Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1465509067 RCV002289752 CA344078610 COSM1200385 RCV000530683 RCV002258949 |
513 | R>Q | large_intestine Hereditary cancer-predisposing syndrome Parathyroid carcinoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV002480337 RCV003168724 rs1060500011 RCV000456380 CA16609989 |
513 | R>W | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1678017409 RCV001338212 RCV002402933 |
517 | T>I | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553292974 CA344078658 RCV000555593 |
520 | R>G | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751152405 RCV000796999 CA1303895 |
522 | M>V | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000686922 CA344078695 rs1558326418 |
523 | V>L | Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA344078713 rs1378278674 RCV000793892 RCV002493447 |
525 | H>Q | Hyperparathyroidism 1 Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA35103495 rs188778681 RCV002388050 RCV000638115 |
525 | H>R | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
CA1303897 RCV001238966 RCV002402754 rs767254478 |
527 | S>L | Hereditary cancer-predisposing syndrome Parathyroid carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_064927 | 2 | A>S | found in parathyroid adenoma samples; somatic mutation; parathyroid adenoma samples are from a patient with isolated hyperparathyroidism who also carries germline mutation P-91 [UniProt] | No | UniProt |
|
RCV000417076 rs1057519385 |
3 | D>missing | No |
ClinVar dbSNP |
|
|
CA1303238 COSM3943228 rs746910026 |
3 | D>E | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 4 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343972746 rs1572139677 |
4 | V>G | No |
ClinGen Ensembl |
|
|
RCV000417074 rs1057519384 |
5 | L>missing | No |
ClinVar dbSNP |
|
|
rs1296841626 CA343972750 |
5 | L>F | No |
ClinGen Ensembl |
|
|
rs770544416 CA1303239 |
6 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs775940851 CA1303240 |
6 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1233590026 CA343972764 |
7 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459610351 CA343972806 |
14 | Q>E | No |
ClinGen gnomAD |
|
|
rs750412567 CA1303249 |
17 | E>A | No |
ClinGen ExAC |
|
|
rs1197900406 CA343972847 |
20 | V>M | No |
ClinGen TOPMed |
|
|
rs1456354852 CA343972859 |
21 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343972888 rs1572139806 |
25 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA34407958 rs752004076 |
29 | E>D | No |
ClinGen Ensembl |
|
| VAR_064929 | 34 | K>Q | found in a clear cell renal carcinoma sample; somatic mutation; unlike wild-type protein the mutant is defective in suppressing CCND1 expression in vivo [UniProt] | No | UniProt |
|
rs1465622860 CA343972960 |
35 | N>K | No |
ClinGen gnomAD |
|
|
CA10588273 rs886039716 RCV000255022 |
37 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA34407992 rs890428520 |
37 | K>R | No |
ClinGen TOPMed |
|
|
CA1303254 rs777541949 |
38 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs746972930 CA1303255 |
39 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019931450 CA34408018 |
40 | Y>C | No |
ClinGen TOPMed |
|
|
rs757088747 CA1303256 |
42 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA34408038 rs893243322 |
42 | V>G | No |
ClinGen Ensembl |
|
|
rs540541696 CA1303278 |
51 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1396420212 CA343973076 |
52 | R>K | No |
ClinGen gnomAD |
|
|
CA343973108 rs1454615241 |
56 | T>I | No |
ClinGen gnomAD |
|
|
rs1422746796 CA343973122 |
58 | D>V | No |
ClinGen gnomAD |
|
| VAR_064930 | 59 | S>F | found in a parathyroid carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1338047587 CA343973279 |
81 | E>A | No |
ClinGen gnomAD |
|
|
rs1264264805 CA343973274 |
81 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | P>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778467088 CA1303303 |
90 | D>H | No |
ClinGen ExAC gnomAD |
|
| VAR_064932 | 91 | R>P | found in a patient with isolated hyperparathyroidism and parathyroid adenomas [UniProt] | No | UniProt |
|
RCV001091020 rs1675671187 |
97 | Y>* | No |
ClinVar dbSNP |
|
|
rs372978307 CA34413573 |
101 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs772376553 CA1303305 |
101 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs141131532 | 102 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1303306 rs778134705 COSM1200387 |
102 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1303330 rs369254776 |
106 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343960314 rs1374821216 |
107 | S>G | No |
ClinGen gnomAD |
|
|
rs1558282344 CA343960341 |
109 | D>N | No |
ClinGen Ensembl |
|
|
rs868045207 CA34369327 |
113 | P>L | No |
ClinGen Ensembl |
|
|
CA34369330 rs761807789 |
116 | I>M | No |
ClinGen Ensembl |
|
|
CA343960471 rs1393669738 |
118 | L>F | No |
ClinGen TOPMed |
|
|
rs763095800 CA1303334 |
122 | T>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000657469 rs1553278841 |
125 | K>missing | No |
ClinVar dbSNP |
|
|
rs1455915064 CA343960600 |
125 | K>T | No |
ClinGen gnomAD |
|
|
CA1303353 rs780017801 |
132 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 135 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 136 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558283535 RCV000681940 CA343961019 |
144 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 144 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA34370714 rs1052060325 |
148 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 149 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs71639185 CA34370718 |
150 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 163 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186176634 CA343962225 |
174 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA157942 RCV000120495 rs587778168 |
197 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1303423 rs748060117 |
203 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1303424 rs771679060 |
205 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA343962614 rs1372346761 |
212 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343962693 rs1572154805 |
218 | V>G | No |
ClinGen Ensembl |
|
|
rs770439843 CA1303427 |
222 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA343962729 rs1330160847 |
224 | I>T | No |
ClinGen gnomAD |
|
| rs760591174 | 230 | V>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558285020 CA343962772 |
230 | V>G | No |
ClinGen Ensembl |
|
|
rs1558285028 CA343962778 |
231 | W>* | No |
ClinGen Ensembl |
|
|
rs1572154868 CA343962781 |
232 | R>G | No |
ClinGen Ensembl |
|
|
CA343962789 rs1572154870 |
233 | T>A | No |
ClinGen Ensembl |
|
|
CA343962796 rs1452051467 |
234 | R>Q | No |
ClinGen gnomAD |
|
|
rs1301555104 CA343962846 |
241 | T>I | No |
ClinGen gnomAD |
|
|
RCV000299735 rs886041580 |
242 | G>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 242 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 243 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267598258 CA34377782 |
246 | S>F | No |
ClinGen Ensembl |
|
|
CA34377789 rs866174269 |
248 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1250821112 CA343963844 |
249 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1450263618 CA343963928 |
255 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343964063 rs1307745420 |
263 | R>P | No |
ClinGen gnomAD |
|
|
CA1303461 rs767567880 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343964153 rs1572158663 |
269 | P>A | No |
ClinGen Ensembl |
|
|
rs981067363 CA34377831 |
270 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 277 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369024183 CA1303486 |
282 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343964921 rs201236330 |
282 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1303488 rs780875952 |
284 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1131691352 CA343965001 RCV000494325 |
287 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| VAR_064935 | 292 | R>K | found in a Wilms tumor sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 293 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 296 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 300 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 307 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343965767 rs1183049109 |
308 | K>Q | No |
ClinGen TOPMed |
|
|
rs1425016725 CA343965827 |
312 | M>V | No |
ClinGen gnomAD |
|
| rs369930569 | 324 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149875598 CA344076110 |
330 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1572196406 CA344076119 |
332 | T>P | No |
ClinGen Ensembl |
|
|
CA344076123 rs1167382210 |
332 | T>S | No |
ClinGen Ensembl |
|
|
rs1182056800 CA344076129 |
333 | Q>P | No |
ClinGen gnomAD |
|
|
rs1572196426 CA344076133 |
334 | T>P | No |
ClinGen Ensembl |
|
|
CA1303710 rs779180488 |
335 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA344076150 rs748667010 |
337 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1303711 rs748667010 |
337 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777746473 CA1303713 |
339 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA344076171 rs1572196474 |
341 | P>T | No |
ClinGen Ensembl |
|
|
CA35097860 rs533252090 |
342 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 346 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748001722 CA1303743 |
348 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1303744 rs771975951 |
349 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1303745 rs773264613 |
350 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1303765 rs771907995 |
358 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 358 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769288212 CA1303771 |
365 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA344077559 rs1305485686 |
365 | P>T | No |
ClinGen gnomAD |
|
|
rs1314797741 CA344077574 |
367 | A>T | No |
ClinGen gnomAD |
|
|
rs113200235 CA35098894 |
367 | A>V | No |
ClinGen Ensembl |
|
|
rs1358233620 CA344077580 |
368 | T>A | No |
ClinGen gnomAD |
|
|
CA1303775 rs764538913 |
375 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA344077643 rs1248317719 |
377 | A>V | No |
ClinGen gnomAD |
|
|
rs971586985 CA35098897 |
379 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs35590728 CA35098899 VAR_031825 |
384 | L>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs762203137 CA1303778 |
385 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1303779 rs767954357 |
385 | K>R | No |
ClinGen ExAC |
|
|
CA35101349 rs866465727 |
387 | V>A | No |
ClinGen Ensembl |
|
|
CA35101350 rs374856513 |
395 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs866793539 CA35101351 |
396 | G>C | No |
ClinGen Ensembl |
|
|
rs146571552 CA1303801 |
396 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344077795 rs878855088 |
398 | Q>R | No |
ClinGen gnomAD |
|
|
rs1223664442 CA344077800 |
399 | R>Q | No |
ClinGen gnomAD |
|
|
rs1262415790 CA344077807 |
400 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344077889 rs1485635426 |
411 | Q>H | No |
ClinGen gnomAD |
|
|
rs1297552782 CA344077908 |
414 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 421 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005313173 CA35101352 |
435 | M>L | No |
ClinGen TOPMed |
|
|
CA344078058 rs1295931922 |
437 | Q>E | No |
ClinGen gnomAD |
|
|
CA344078063 rs1347068195 |
437 | Q>H | No |
ClinGen gnomAD |
|
|
rs1572217694 CA344078097 |
440 | D>A | No |
ClinGen Ensembl |
|
|
CA1303831 rs780020781 |
440 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1303832 rs754454928 |
441 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778432682 CA1303833 |
441 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 443 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1303835 rs771812343 |
443 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 447 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386267118 CA344078157 |
450 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344078252 rs1411264925 |
463 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA344078254 rs1411264925 |
463 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 464 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001269914 rs1677757408 |
465 | S>* | No |
ClinVar dbSNP |
|
|
CA1303840 rs760028950 |
466 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs899364754 CA35103402 |
474 | K>E | No |
ClinGen TOPMed |
|
|
rs770032216 CA35103403 |
477 | H>Y | No |
ClinGen Ensembl |
|
|
CA729321931 rs1436061122 |
480 | Y>* | No |
ClinGen TOPMed |
|
|
rs1387746447 CA344078399 CA344078400 |
482 | E>D | No |
ClinGen TOPMed |
|
|
rs761968225 CA1303868 |
485 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 486 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 496 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM531419 CA344078500 rs1448322761 |
497 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1303869 rs776450180 |
500 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1303870 rs759222387 |
504 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292596060 CA344078547 |
504 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 518 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758050507 CA1303873 |
518 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA35103496 rs933656799 |
532 | F>G | No |
ClinGen Ensembl |
No associated diseases with Q6P1J9
1 regional properties for Q6P1J9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thymidylate kinase-like domain | 11 - 200 | IPR039430 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cdc73/Paf1 complex | A multiprotein complex that associates with RNA polymerase II and general RNA polymerase II transcription factor complexes and may be involved in both transcriptional initiation and elongation. In Saccharomyces the complex contains Paf1p, Cdc73p, Ctr9p, Rtf1p, and Leo1p. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA polymerase II complex binding | Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| cellular response to lipopolysaccharide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| endodermal cell fate commitment | The cell differentiation process that results in commitment of a cell to become part of the endoderm. |
| histone H2B ubiquitination | The modification of histone H2B by addition of ubiquitin groups. |
| histone monoubiquitination | The modification of histones by addition of a single ubiquitin group. |
| mRNA polyadenylation | The enzymatic addition of a sequence of 40-200 adenylyl residues at the 3' end of a eukaryotic mRNA primary transcript. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
| negative regulation of fibroblast proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| negative regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| negative regulation of myeloid cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of cell cycle G1/S phase transition | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
| positive regulation of mRNA 3'-end processing | Any process that activates or increases the frequency, rate or extent of mRNA 3'-end processing. |
| positive regulation of transcription elongation by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| positive regulation of Wnt signaling pathway | Any process that activates or increases the frequency, rate or extent of Wnt signal transduction. |
| protein destabilization | Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation. |
| recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex | The process in which proteins required for 3'-end transcript processing become associated with the RNA polymerase II holoenzyme complex and the 3' end of a transcript. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| stem cell population maintenance | The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types. |
| transcription elongation by RNA polymerase II promoter | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADVLSVLRQ | YNIQKKEIVV | KGDEVIFGEF | SWPKNVKTNY | VVWGTGKEGQ | PREYYTLDSI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFLLNNVHLS | HPVYVRRAAT | ENIPVVRRPD | RKDLLGYLNG | EASTSASIDR | SAPLEIGLQR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| STQVKRAADE | VLAEAKKPRI | EDEECVRLDK | ERLAARLEGH | KEGIVQTEQI | RSLSEAMSVE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KIAAIKAKIM | AKKRSTIKTD | LDDDITALKQ | RSFVDAEVDV | TRDIVSRERV | WRTRTTILQS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TGKNFSKNIF | AILQSVKARE | EGRAPEQRPA | PNAAPVDPTL | RTKQPIPAAY | NRYDQERFKG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KEETEGFKID | TMGTYHGMTL | KSVTEGASAR | KTQTPAAQPV | PRPVSQARPP | PNQKKGSRTP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IIIIPAATTS | LITMLNAKDL | LQDLKFVPSD | EKKKQGCQRE | NETLIQRRKD | QMQPGGTAIS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VTVPYRVVDQ | PLKLMPQDWD | RVVAVFVQGP | AWQFKGWPWL | LPDGSPVDIF | AKIKAFHLKY |
| 490 | 500 | 510 | 520 | 530 | |
| DEVRLDPNVQ | KWDVTVLELS | YHKRHLDRPV | FLRFWETLDR | YMVKHKSHLR | F |