Q9Y6N9
PR
Gene name |
USH1C (AIE75) |
Protein name |
Harmonin |
Names |
Antigen NY-CO-38/NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10083 |
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
12 structures for Q9Y6N9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X5N | NMR | - | A | 201-301 | PDB |
| 2KBQ | NMR | - | A | 1-80 | PDB |
| 2KBR | NMR | - | A | 1-80 | PDB |
| 2KBS | NMR | - | A | 208-299 | PDB |
| 2LSR | NMR | - | A | 1-80 | PDB |
| 3K1R | X-ray | 230 A | A | 1-192 | PDB |
| 5F3X | X-ray | 265 A | A/C | 1-194 | PDB |
| 5MV8 | X-ray | 188 A | B | 428-552 | PDB |
| 5MV9 | X-ray | 260 A | B | 428-552 | PDB |
| 5XBF | X-ray | 180 A | B | 428-552 | PDB |
| 7X2E | X-ray | 185 A | A | 193-370 | PDB |
| AF-Q9Y6N9-F1 | Predicted | AlphaFoldDB |
620 variants for Q9Y6N9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1554965967 RCV000669702 |
1 | M>V | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240666 CA10575817 rs876657624 |
3 | R>* | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001835672 CA218466943 RCV000673769 rs267602805 RCV001364252 |
26 | L>F | Usher syndrome type 1C Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000983994 RCV000595941 RCV000763238 RCV000005453 rs121908370 CA253419 |
31 | R>* | Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002225694 rs776511246 CA5905185 RCV000625797 |
31 | R>Q | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA142283 rs75157409 RCV000041246 RCV001108637 RCV000959167 |
34 | H>R | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001664744 rs780439529 RCV001833757 RCV001195265 RCV002560194 CA5905159 |
41 | V>M | Usher syndrome type 1C Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1231910 CA142295 RCV001271302 RCV001570924 rs145500807 RCV000041252 |
43 | V>M | Usher syndrome type 1C large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5905152 rs775363189 RCV001589139 RCV000221329 RCV002478780 RCV001828086 |
51 | N>S | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA218465335 RCV001106432 rs1042393529 RCV000614227 |
55 | R>H | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001832015 rs372497947 RCV000666825 CA243367 RCV000177238 RCV002485157 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs375741564 CA5905144 RCV000664634 |
63 | R>W | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001106429 rs1850975781 |
67 | P>L | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000787893 RCV002496266 RCV000213574 RCV001073457 rs397515359 RCV000984011 RCV001291493 RCV000727619 RCV000505081 RCV000824775 RCV000005448 |
80 | R>missing | Retinitis pigmentosa Usher syndrome Usher syndrome type 1C Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 18A Usher syndrome type 1 Retinal dystrophy Rare genetic deafness [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001829714 RCV000613861 RCV001346255 CA218465227 rs774005703 |
80 | R>G | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001302460 CA5905133 rs148597739 RCV001835453 |
80 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV001307008 CA5905135 rs774005703 RCV001830236 |
80 | R>W | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002518225 RCV001276299 CA10576848 RCV000223556 rs876658111 RCV000669850 |
81 | R>C | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000671029 RCV000215948 rs769021971 RCV001833216 CA10576847 |
82 | S>C | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001199563 rs1850961650 |
88 | V>missing | Usher syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669302 CA5905110 RCV001071473 rs749647539 RCV001731869 RCV001273253 |
89 | R>H | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5905108 rs147954324 RCV000349369 RCV001828246 |
92 | R>H | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000662095 RCV000675046 RCV000662094 CA261116 RCV001377937 rs397514500 RCV000032622 |
103 | R>H | Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A Usher syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1317951509 RCV002531234 CA379797120 RCV001004554 RCV000669659 |
104 | G>D | Usher syndrome type 1C Usher syndrome type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001280405 RCV001773586 CA5905093 rs767655370 |
114 | I>T | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001835590 RCV001318440 rs1850953775 |
120 | G>S | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM333150 RCV001835181 RCV001243721 CA5905089 RCV002504348 rs377510653 |
121 | G>S | lung Usher syndrome type 1C [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5905083 RCV000223498 RCV000672839 RCV001241209 rs768207716 RCV001828088 |
127 | G>R | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA142377 RCV002496267 RCV000972120 RCV000041291 rs55843567 RCV000005456 |
130 | V>I | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000343731 CA142380 RCV000041292 RCV000963575 rs145013633 RCV001578830 |
135 | V>I | Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001828978 RCV001241479 CA5905052 COSM147150 rs558663132 RCV001449780 |
136 | R>Q | Usher syndrome type 1C stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001246612 CA5905053 RCV000383021 RCV000825486 rs368903400 |
136 | R>W | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1850747142 RCV001230230 RCV001833991 |
137 | I>V | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850746868 RCV001280403 |
138 | N>D | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001857200 RCV000504748 rs777591673 CA5905044 RCV000674162 |
147 | H>R | Usher syndrome Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5905042 RCV002537894 rs747960087 RCV001280402 |
148 | E>K | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1565058763 CA379795250 RCV000735664 |
149 | E>K | Autosomal recessive nonsyndromic hearing loss 18A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5905040 RCV000409966 RCV001865277 RCV000412375 rs377145777 RCV001291494 |
155 | R>* | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 18A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142730611 RCV002520706 CA5905039 RCV000292237 |
155 | R>P | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001073795 RCV001237148 rs1850741468 |
164 | V>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850606 CA5905034 RCV000334139 COSM1651236 rs367996370 COSM925511 |
166 | H>Y | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1032568806 RCV001835430 CA218461363 RCV001300021 |
168 | G>S | Usher syndrome type 1C Variant assessed as Somatic; 0.0001927 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001280400 RCV002541748 rs748703138 |
172 | V>L | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304715 rs1850699098 RCV001830212 |
177 | D>G | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850697098 RCV001073238 |
187 | Q>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831813 RCV000671159 rs200319849 CA232263 RCV000122525 |
190 | S>L | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001273252 CA218461064 rs200319849 RCV001041266 |
190 | S>W | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001831696 RCV000041299 RCV002472946 rs141771249 CA142395 |
198 | S>C | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770543827 CA5904942 RCV000671786 |
200 | G>S | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs777321803 CA5904939 RCV001342456 RCV001825885 |
205 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000152556 RCV001238924 RCV001826812 RCV000674723 rs372789934 CA179491 |
210 | K>T | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10630482 rs886048060 RCV000354977 RCV001859803 |
212 | V>I | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000672382 rs1223763703 RCV001055312 CA379793132 |
224 | C>* | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001280397 CA5904883 rs772108970 |
259 | V>G | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749119650 RCV001835539 CA5904879 RCV001313325 |
261 | V>I | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5904875 rs79875849 RCV000825027 RCV000310482 RCV001068380 |
264 | V>I | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000668427 RCV002507161 CA5904872 rs199537187 |
265 | D>N | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000672216 RCV000487515 rs1064797153 RCV001199564 |
281 | S>missing | Usher syndrome type 1C Usher syndrome type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835406 CA5904839 RCV001297278 rs145245642 |
282 | R>C | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779111365 RCV000389039 CA5904838 RCV001208196 |
282 | R>H | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756485601 RCV000373963 RCV002520705 CA5904834 |
284 | L>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5904831 RCV001280396 RCV001316883 rs754717329 |
288 | I>M | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001108556 RCV002558087 CA5904828 rs200322793 |
292 | A>G | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773481791 RCV000263955 CA5904800 |
294 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5904801 RCV000403434 RCV001108555 rs555152976 |
294 | R>W | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200127622 CA10634220 RCV000377276 |
295 | E>K | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs574790229 RCV001248688 RCV001835344 CA5904797 |
301 | R>W | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397517884 RCV000041303 CA142403 RCV002513580 RCV001831697 |
303 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002553045 RCV001832391 rs749821587 RCV001038731 CA5904793 |
303 | R>W | Usher syndrome type 1C Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554960929 RCV000668637 RCV002532077 |
306 | E>missing | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001374152 COSM687044 CA5904788 rs763948115 RCV001106341 COSM1646411 |
308 | R>Q | lung Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs760448018 RCV001302966 RCV001830192 CA5904787 |
310 | R>C | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs35336155 CA182721 RCV000155398 RCV001106340 RCV000889692 |
316 | E>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA379787699 rs1392006029 RCV001828668 RCV001208276 |
318 | L>I | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001273251 RCV001238936 RCV000152555 rs140424216 CA179488 |
322 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001853494 RCV000221394 CA10576846 RCV000669873 rs876658109 RCV001833215 |
338 | E>A | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5904766 rs765571023 RCV000666051 RCV002532049 |
339 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762551629 RCV000984228 RCV000598390 CA5904739 RCV000984229 |
347 | Q>* | Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1850407138 RCV001197678 |
351 | E>D | Usher syndrome type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558068 CA5904732 rs746789590 RCV001106339 |
355 | R>I | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001827275 rs895318911 RCV001044717 CA218454379 |
357 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA240094 RCV001831997 RCV000174556 rs140934960 RCV000665382 |
357 | R>W | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000669236 rs1554960390 RCV001385798 |
379 | G>* | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244821 rs202174251 CA142289 RCV001273249 RCV000041250 |
379 | G>D | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001527771 RCV000671259 rs1554960388 |
383 | Q>missing | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1651237 rs769984840 RCV001280395 RCV002499488 RCV002537893 COSM925505 CA5904698 |
395 | H>Y | Usher syndrome type 1C endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5904692 RCV001829674 RCV000597888 rs750721690 |
400 | R>H | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001280394 rs928672021 |
406 | Q>H | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001386148 rs1207247951 RCV000670807 RCV001003245 RCV001829866 |
407 | G>missing | Retinitis pigmentosa Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001105205 CA5904676 RCV002291721 rs143923730 |
407 | G>A | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143923730 CA5904675 RCV000297479 RCV001700046 RCV000914270 |
407 | G>E | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001518731 rs116996553 RCV000337284 CA136322 RCV000038629 |
415 | A>T | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA218452246 RCV002541747 rs977658619 RCV001280393 |
419 | D>N | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA248640 RCV000376452 rs115931035 RCV000038630 RCV000993529 |
421 | G>S | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065291 RCV001833636 rs746527367 CA5904662 |
428 | Q>R | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000664528 RCV000215016 RCV001272253 CA5904301 RCV002478781 RCV001248288 rs371626423 |
431 | R>Q | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001361788 RCV001272254 CA142322 RCV000041269 RCV001375307 RCV000669240 rs397517874 |
431 | R>W | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002513578 CA142325 RCV000041270 RCV001826585 RCV000666460 rs148168494 |
432 | K>E | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001833871 CA5904295 RCV001213752 rs200182990 |
442 | M>T | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000155312 RCV001272252 RCV000668570 CA182568 RCV002514993 rs201600193 |
447 | Q>R | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5904260 RCV002542957 RCV001280392 COSM1231911 RCV001796417 rs143803480 |
454 | R>W | Usher syndrome type 1C large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001280391 CA5904254 RCV002537892 RCV002480925 rs753703742 |
457 | R>H | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5904229 RCV001272251 rs771504780 RCV001049176 |
461 | E>K | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002509463 RCV001829696 rs140313023 CA5904226 RCV000610132 |
463 | S>F | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA185003 RCV002515024 rs727505083 RCV000156523 RCV001831977 |
471 | G>S | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5904216 RCV001296903 RCV003166657 RCV001830140 rs763628668 |
471 | G>V | Usher syndrome type 1C Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001831123 RCV001346292 CA5904214 rs775036726 |
473 | D>N | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA379803090 RCV001280390 rs1309991987 |
474 | S>F | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000670894 RCV001232682 rs758555088 |
476 | I>missing | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1019237939 RCV001280389 |
476 | I>N | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001272250 rs397517875 RCV000668855 RCV001852838 CA142335 RCV000041274 |
481 | V>I | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1591961566 RCV000770885 |
484 | V>* | Autosomal recessive nonsyndromic hearing loss 18A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001103300 CA5904207 rs199729381 RCV001339115 |
488 | G>R | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5904206 RCV001835594 rs772123405 RCV001318893 |
491 | E>K | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200428926 COSM3687204 RCV001280388 RCV002499487 CA5904203 COSM3687203 RCV002280173 |
492 | R>W | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10637969 rs868121889 RCV000353901 |
493 | H>R | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002480645 RCV002559236 RCV001833756 rs372227474 RCV001586036 RCV001195262 CA5904201 |
493 | H>Y | Usher syndrome type 1C Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371257969 RCV001244895 RCV001829941 CA5904171 |
501 | E>K | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs150593932 RCV001103299 RCV000155311 RCV000425626 CA182565 |
504 | A>T | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397517876 RCV000219294 RCV001360961 CA10576843 RCV001828087 RCV000670409 |
506 | N>K | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001545234 rs142652588 RCV002478457 CA182562 RCV000155310 RCV000791090 |
507 | G>S | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000670796 RCV001855547 rs779253356 |
511 | T>missing | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1849309216 RCV001103298 |
513 | Y>D | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
CA142344 rs397517877 RCV000041278 RCV000669750 RCV000397022 RCV002274904 |
514 | T>N | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1064074 RCV001512208 VAR_012320 RCV000988495 RCV000041279 RCV001537986 CA218483070 CA142347 |
519 | E>D | Usher syndrome type 1C Autosomal recessive nonsyndromic hearing loss 18A [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV000041280 CA142350 RCV001852839 RCV000669772 rs397517878 |
520 | A>T | Usher syndrome type 1C [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554953360 RCV000668827 |
544 | E>missing | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828773 rs138123405 RCV002562555 CA5904118 RCV001222459 |
547 | D>N | Variant assessed as Somatic; 0.0 impact. Usher syndrome type 1C Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001322742 RCV000669821 rs1474458620 |
552 | F>missing | Usher syndrome type 1C [ClinVar] | Yes |
ClinVar dbSNP |
|
CA218480528 rs876657624 |
3 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA379805235 rs1307084632 |
4 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1181091798 CA379805252 |
4 | K>T | No |
ClinGen TOPMed |
|
|
CA379805140 rs777396814 |
7 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5905294 rs777396814 |
7 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457882210 CA379805014 |
10 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 10 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322658934 CA379805011 |
11 | H>N | No |
ClinGen gnomAD |
|
|
CA379805004 rs1161954752 |
11 | H>R | No |
ClinGen TOPMed |
|
|
CA5905198 rs757473472 |
13 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5905197 rs753946678 |
14 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1305058607 CA379801090 |
14 | D>N | No |
ClinGen TOPMed |
|
|
CA379800944 rs1179635643 RCV001323281 |
17 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA379800869 rs1380387191 |
20 | D>Y | No |
ClinGen TOPMed |
|
|
CA5905194 rs747629737 |
21 | A>G | No |
ClinGen ExAC |
|
|
rs181215175 CA5905195 |
21 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA5905193 rs753180549 |
22 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759929001 CA5905191 |
24 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs536191185 CA5905189 |
25 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751983859 CA5905190 |
25 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1222503025 CA379800598 |
27 | Y>H | No |
ClinGen gnomAD |
|
|
CA5905188 rs143192514 |
28 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 28 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379800438 rs1225585780 |
29 | V>A | No |
ClinGen gnomAD |
|
|
rs121908370 CA5905186 |
31 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379800359 rs1294493185 |
32 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs376949470 CA379800367 |
32 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5905184 rs376949470 |
32 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477925627 CA379800268 |
35 | Q>* | No |
ClinGen TOPMed |
|
|
CA218465486 rs369151395 RCV000728072 |
35 | Q>H | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
CA5905163 rs531538376 |
37 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218465480 rs952524725 |
37 | M>V | No |
ClinGen gnomAD |
|
|
rs1029936477 CA218465454 |
38 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs781491502 CA5905162 |
39 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545856155 CA5905158 |
42 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218465440 rs1013399574 |
43 | V>G | No |
ClinGen Ensembl |
|
|
CA379798717 rs145500807 RCV001341656 |
43 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1172593092 CA379798664 |
44 | G>E | No |
ClinGen gnomAD |
|
|
rs1592024029 CA379798654 |
45 | D>A | No |
ClinGen Ensembl |
|
|
rs140319839 CA5905156 |
45 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379798565 rs1455042541 |
47 | K>R | No |
ClinGen TOPMed |
|
|
CA5905154 rs374829758 |
48 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146817459 CA5905153 |
49 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001297923 CA379798484 rs1257461261 |
50 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1592023929 CA379798440 |
52 | E>D | No |
ClinGen Ensembl |
|
|
rs1000780029 CA218465373 |
53 | P>R | No |
ClinGen gnomAD |
|
|
CA218465345 rs767509662 |
54 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199749712 CA218465367 |
54 | S>R | No |
ClinGen 1000Genomes |
|
|
rs117171411 CA5905150 |
55 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117171411 CA379798377 |
55 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5905149 rs774197490 |
56 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA379798317 rs1341678124 |
57 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 60 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306706999 CA379798196 |
62 | I>T | No |
ClinGen TOPMed |
|
|
CA5905145 rs776833569 |
62 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1850976904 RCV001054326 |
64 | P>missing | No |
ClinVar dbSNP |
|
|
CA5905143 rs758959670 |
64 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186965957 CA379798133 |
65 | L>P | No |
ClinGen gnomAD |
|
|
rs145040342 CA5905142 |
66 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256576403 CA379797978 |
70 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753527535 CA5905139 |
70 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379797970 rs1193648847 |
71 | Q>K | No |
ClinGen gnomAD |
|
|
CA379797921 rs1265464766 |
72 | V>E | No |
ClinGen gnomAD |
|
|
rs763766845 CA379797928 |
72 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763766845 CA5905138 |
72 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379797892 rs1182093939 |
73 | E>Q | No |
ClinGen TOPMed |
|
|
CA379797812 rs111033279 |
75 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA218465274 rs868058857 |
75 | D>N | No |
ClinGen Ensembl |
|
|
rs759581780 CA379797753 |
78 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759581780 CA5905136 |
78 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5905134 rs148597739 |
80 | R>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs776956839 CA5905132 |
81 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5905131 rs769021971 |
82 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379797653 rs1422895060 |
83 | R>G | No |
ClinGen gnomAD |
|
|
CA379797417 rs1335710937 |
87 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA379797384 rs1592022977 |
88 | V>G | No |
ClinGen Ensembl |
|
|
rs764346200 CA5905111 |
89 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM326828 rs1342634019 CA379797347 |
91 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs775407483 CA5905109 |
92 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs775407483 CA379797329 |
92 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5905106 rs554615192 |
94 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1415557754 CA379797252 |
95 | P>S | No |
ClinGen gnomAD |
|
|
rs769420899 CA5905102 |
96 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5905101 rs370054635 |
99 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5905100 rs370054635 |
99 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs397517880 CA142371 RCV000041289 RCV000756870 |
103 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5905098 rs397514500 |
103 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs397514500 CA218464934 |
103 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379797124 rs1387867750 |
104 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218464918 rs999357481 |
105 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5905097 rs750240156 |
106 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs765184158 CA5905096 |
107 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379797038 rs1320230679 |
109 | G>D | No |
ClinGen gnomAD |
|
|
CA379797033 rs1320230679 |
109 | G>V | No |
ClinGen gnomAD |
|
|
RCV001338031 rs1850955520 |
111 | G>V | No |
ClinVar dbSNP |
|
|
rs1175821547 CA379796931 |
115 | S>Y | No |
ClinGen TOPMed |
|
|
CA379796888 rs531626349 |
116 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1430153483 CA379796876 |
117 | L>F | No |
ClinGen TOPMed |
|
|
CA5905090 rs377510653 |
121 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147383732 CA5905088 |
121 | G>V | No |
ClinGen ESP ExAC |
|
|
CA5905087 CA379796753 rs770187704 |
122 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748496002 CA5905086 |
123 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1302517319 CA379796747 |
123 | A>T | No |
ClinGen TOPMed |
|
|
rs1592022542 CA379796713 |
124 | D>E | No |
ClinGen Ensembl |
|
|
CA379796722 rs1402010987 |
124 | D>G | No |
ClinGen gnomAD |
|
|
rs1170876395 CA379796705 |
125 | S>C | No |
ClinGen gnomAD |
|
|
COSM3710158 COSM3710157 CA379796685 rs1007641421 |
125 | S>R | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1183120373 CA379796679 |
126 | V>D | No |
ClinGen gnomAD |
|
|
CA379796684 rs1280648795 COSM242185 |
126 | V>I | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA379795359 rs1421385034 |
130 | V>A | No |
ClinGen gnomAD |
|
|
rs751821660 CA5905058 |
132 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758424766 CA5905056 |
133 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379795333 rs1592014827 |
134 | I>T | No |
ClinGen Ensembl |
|
|
rs1266804422 CA379795328 |
135 | V>A | No |
ClinGen gnomAD |
|
|
rs145013633 CA218461880 |
135 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379795324 rs558663132 |
136 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5905051 rs761149947 |
138 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218461855 rs376786663 |
139 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs775231512 CA5905050 |
140 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 141 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771861342 CA379795291 |
142 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs771861342 CA5905049 |
142 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773799306 CA5905047 |
144 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5905048 rs745306674 |
144 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1401383916 CA379795271 |
145 | C>F | No |
ClinGen gnomAD |
|
|
CA5905046 rs770887795 |
145 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1401383916 CA379795273 |
145 | C>Y | No |
ClinGen gnomAD |
|
|
rs769438169 CA5905043 |
147 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770952404 CA5905045 |
147 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379795257 rs747960087 |
148 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218461796 rs369866148 |
151 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1292489588 CA379795214 |
154 | I>N | No |
ClinGen gnomAD |
|
|
CA5905041 rs780193063 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM182021 CA379795208 rs142730611 |
155 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1261144420 CA379795203 |
156 | T>S | No |
ClinGen gnomAD |
|
|
rs778921099 CA5905038 |
157 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 157 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5905037 rs757763475 |
158 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1450155718 CA379795183 |
159 | T>S | No |
ClinGen TOPMed |
|
|
CA379795180 rs1203484304 |
160 | V>M | No |
ClinGen gnomAD |
|
|
rs1260933169 CA379795174 |
161 | S>P | No |
ClinGen gnomAD |
|
|
rs367996370 CA379795128 |
166 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470001070 CA379794931 |
168 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5905000 rs748703138 |
172 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866094909 CA218461349 |
174 | S>G | No |
ClinGen Ensembl |
|
|
rs1420966320 CA379794744 COSM76958 |
174 | S>I | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1461558857 CA379794563 |
176 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1242304171 CA379794558 |
177 | D>H | No |
ClinGen gnomAD |
|
|
rs1242304171 CA379794557 |
177 | D>N | No |
ClinGen gnomAD |
|
|
rs755514689 CA5904980 |
178 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747331051 CA5904979 |
180 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs113015650 CA218461101 |
184 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs113015650 CA5904977 |
184 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs963354933 CA218461099 |
185 | V>M | No |
ClinGen TOPMed |
|
|
CA5904976 rs750134316 |
188 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1449986052 CA379794177 |
191 | E>K | No |
ClinGen gnomAD |
|
| rs397517882 | 194 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379793806 rs1486836147 |
194 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA379793770 rs1490328651 |
195 | V>G | No |
ClinGen gnomAD |
|
|
COSM3687036 rs760703501 CA5904946 COSM3687037 |
195 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM304073 rs1290295453 RCV001383895 CA379793767 |
196 | R>* | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001038980 CA142389 RCV000041297 rs397517883 COSM3808884 COSM3808883 |
196 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs576809888 CA5904944 |
197 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5904945 rs772472743 |
197 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1284606967 CA379793723 |
198 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1592011277 CA379793689 |
200 | G>A | No |
ClinGen Ensembl |
|
|
CA379793697 rs770543827 |
200 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA379793668 rs1344788007 |
201 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592011226 CA379793636 |
202 | P>R | No |
ClinGen Ensembl |
|
|
rs145568338 CA218460643 |
202 | P>S | No |
ClinGen 1000Genomes |
|
|
CA379793623 rs1301153559 |
203 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379793556 rs1345523318 |
207 | N>K | No |
ClinGen gnomAD |
|
|
rs755601799 CA5904938 RCV001205881 |
210 | K>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs781118419 CA5904937 |
211 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565056819 CA379793449 |
213 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751387157 CA218460611 |
217 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751387157 CA5904935 |
217 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379793339 rs1421423369 |
217 | V>L | No |
ClinGen TOPMed |
|
|
CA379793298 rs1266873222 |
218 | G>D | No |
ClinGen gnomAD |
|
|
rs766327614 CA5904933 |
220 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs766327614 CA379793249 |
220 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs754055631 CA5904931 |
220 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001053962 rs754055631 CA5904932 |
220 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA379793163 rs1214138756 |
223 | G>D | No |
ClinGen gnomAD |
|
|
CA379793144 rs1264680503 |
224 | C>Y | No |
ClinGen gnomAD |
|
|
CA379791391 rs1361568962 |
226 | I>L | No |
ClinGen gnomAD |
|
|
CA5904911 rs759639970 |
229 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218459545 rs200523032 |
229 | G>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs759639970 CA379791280 |
229 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379791269 rs1309346263 |
230 | P>A | No |
ClinGen gnomAD |
|
|
rs1395809006 CA379791236 |
231 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379791105 rs1565053850 |
234 | P>A | No |
ClinGen Ensembl |
|
|
RCV000506416 CA379791089 rs1554961433 |
234 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs980345976 CA218459541 |
238 | I>F | No |
ClinGen gnomAD |
|
|
CA5904910 rs774790511 |
238 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1163327690 CA379790988 |
239 | S>G | No |
ClinGen gnomAD |
|
|
rs943937625 CA218459533 |
240 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379790916 rs1365921969 |
241 | V>A | No |
ClinGen gnomAD |
|
|
CA379790851 rs1249188126 |
243 | P>A | No |
ClinGen gnomAD |
|
|
rs1202456162 CA379790831 |
243 | P>R | No |
ClinGen gnomAD |
|
|
CA379790842 rs1249188126 |
243 | P>S | No |
ClinGen gnomAD |
|
|
rs766885290 CA5904909 |
244 | G>S | No |
ClinGen ExAC |
|
|
CA379790776 rs1221670905 |
245 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1221670905 CA379790775 |
245 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1262300844 CA379790726 |
248 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379790737 rs1262300844 |
248 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs181762689 CA5904907 |
249 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218459520 rs181762689 |
249 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218459519 rs866615240 |
251 | G>* | No |
ClinGen Ensembl |
|
|
rs773514992 CA5904906 |
251 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5904885 rs543985400 |
254 | I>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA5904884 COSM1507478 rs775210992 COSM1507479 |
259 | V>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM182018 rs369461618 CA5904881 |
260 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs974736193 CA218458967 |
265 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 270 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754263265 CA5904870 |
270 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379789365 rs1335731742 |
271 | H>R | No |
ClinGen TOPMed |
|
|
rs898439325 CA218458852 |
274 | A>T | No |
ClinGen TOPMed |
|
|
CA379789177 rs1197563731 |
277 | V>G | No |
ClinGen TOPMed |
|
|
rs1001424841 CA218458846 |
277 | V>M | No |
ClinGen TOPMed |
|
|
CA218458840 rs915930010 |
279 | K>R | No |
ClinGen Ensembl |
|
|
rs775519842 CA5904841 |
280 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592004514 CA379789090 |
280 | S>I | No |
ClinGen Ensembl |
|
|
CA379789039 rs1485274278 |
281 | S>R | No |
ClinGen TOPMed |
|
|
rs112891356 CA5904840 |
281 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5904836 rs749768019 |
283 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA379788990 rs749768019 |
283 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs756485601 CA5904835 |
284 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 285 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5904832 rs767070713 |
287 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565051714 CA379788883 |
288 | I>V | No |
ClinGen Ensembl |
|
|
rs1284669359 CA379788857 |
289 | V>A | No |
ClinGen gnomAD |
|
|
rs751010133 CA5904830 |
290 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379788830 rs1592004299 |
291 | A>P | No |
ClinGen Ensembl |
|
|
CA379788624 rs1342834892 |
293 | G>S | No |
ClinGen gnomAD |
|
|
rs200127622 CA379788575 |
295 | E>Q | No |
ClinGen gnomAD |
|
|
rs771375713 CA5904799 |
296 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748728168 CA5904798 |
297 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA218458556 rs999871420 |
298 | M>L | No |
ClinGen TOPMed |
|
|
CA379788401 rs1461497965 |
298 | M>T | No |
ClinGen TOPMed |
|
|
rs1376998874 CA379788331 |
299 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1592003504 CA379788338 |
299 | T>P | No |
ClinGen Ensembl |
|
|
CA379788294 rs1592003483 |
300 | D>A | No |
ClinGen Ensembl |
|
|
rs556221893 CA379788231 |
301 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5904795 rs556221893 |
301 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 303 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379788078 rs1422930797 |
305 | A>G | No |
ClinGen gnomAD |
|
|
rs1187754133 CA379788092 |
305 | A>T | No |
ClinGen gnomAD |
|
|
rs749924388 CA5904792 |
307 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753755365 CA5904790 |
308 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904789 rs753755365 |
308 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752499487 CA5904786 |
310 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904784 rs763313646 |
313 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs766692857 CA5904785 |
313 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA379787822 rs773393925 |
314 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs769953534 CA218458496 |
314 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769953534 CA5904781 |
314 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773393925 CA5904782 |
314 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs761821724 CA5904780 |
315 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA379787752 rs1410579937 |
315 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5904779 rs769049771 |
316 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA218458481 rs945016475 |
317 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5904778 rs747397802 |
319 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs775894565 CA5904777 |
319 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904776 rs41282934 |
320 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379787576 rs1472593374 |
321 | K>N | No |
ClinGen gnomAD |
|
|
CA5904775 rs778554644 |
322 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756062744 CA5904772 |
324 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565050661 CA379787460 |
324 | A>S | No |
ClinGen Ensembl |
|
|
rs756062744 CA5904771 |
324 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354494480 CA379787393 |
325 | M>R | No |
ClinGen gnomAD |
|
|
rs1262654562 CA379787276 |
327 | S>C | No |
ClinGen gnomAD |
|
|
rs1328527104 CA379787225 |
328 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA379787240 rs1229249579 |
328 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 329 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379787200 rs1286583866 |
329 | K>R | No |
ClinGen gnomAD |
|
|
CA5904769 rs767460132 |
330 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904768 rs754851671 |
331 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs935876011 CA218458457 |
334 | Q>E | No |
ClinGen TOPMed |
|
|
CA379786930 rs1385393102 |
335 | Q>P | No |
ClinGen gnomAD |
|
|
rs1385393102 CA379786929 |
335 | Q>R | No |
ClinGen gnomAD |
|
|
rs924642642 CA218458453 |
336 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1184895475 CA379786805 |
337 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5904767 rs200837155 |
339 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5904764 rs776644722 |
340 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5904741 rs759887115 |
342 | R>K | No |
ClinGen ExAC |
|
|
rs1278026061 CA379786083 |
344 | E>* | No |
ClinGen gnomAD |
|
|
rs961480884 CA218457666 |
345 | I>T | No |
ClinGen Ensembl |
|
|
CA5904740 rs774753537 |
346 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904738 rs762551629 RCV001234871 |
347 | Q>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5904737 rs144896074 |
347 | Q>R | No |
ClinGen ESP ExAC |
|
|
CA5904736 rs769136040 |
348 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1294864963 CA379785085 |
350 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5904733 rs768782484 |
354 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA379784986 rs1372392561 |
356 | Y>H | No |
ClinGen gnomAD |
|
|
CA5904731 rs140934960 |
357 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756115246 CA5904729 |
360 | M>L | No |
ClinGen ExAC gnomAD |
|
|
COSM687045 COSM1646412 CA5904728 rs756115246 |
360 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1703657 CA5904727 COSM1703658 rs752837878 |
361 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs147727890 | 362 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970072244 CA218454368 |
362 | Q>R | No |
ClinGen TOPMed |
|
|
rs1330540665 CA379784753 |
363 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5904707 rs750856477 |
363 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1288618500 CA379784763 |
363 | I>V | No |
ClinGen gnomAD |
|
|
rs1391500509 CA379784748 |
364 | V>L | No |
ClinGen TOPMed |
|
|
CA379784739 rs1311379627 |
365 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 367 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 371 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 374 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204827747 CA379784593 |
374 | W>C | No |
ClinGen TOPMed |
|
|
rs374699745 CA5904704 CA218454080 |
374 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs372333441 CA5904703 |
375 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218454061 rs760259812 |
376 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs760259812 CA5904702 |
376 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1850384410 RCV001219009 |
378 | W>missing | No |
ClinVar dbSNP |
|
|
COSM1507483 CA379784542 RCV000793534 rs1591999307 COSM1507482 |
378 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1507483 rs550843060 COSM1507482 CA5904701 |
378 | W>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1459044939 CA379784458 |
384 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866125783 CA218454052 |
388 | K>E | No |
ClinGen Ensembl |
|
|
CA379784368 rs1255544561 |
390 | I>M | No |
ClinGen TOPMed |
|
|
rs374410443 CA5904699 |
390 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379784300 rs1164501722 |
394 | V>A | No |
ClinGen gnomAD |
|
|
rs769984840 CA379784287 |
395 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904697 rs748321973 |
395 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs781424965 CA5904696 |
396 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781424965 CA218454021 |
396 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379784221 rs1166447896 |
397 | V>E | No |
ClinGen TOPMed |
|
|
CA379784229 rs1466003398 |
397 | V>L | No |
ClinGen gnomAD |
|
|
CA218454013 rs267602804 |
399 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5904693 rs759009035 |
400 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379784157 rs750721690 |
400 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379784116 rs1366585880 |
401 | K>T | No |
ClinGen gnomAD |
|
|
CA5904678 rs148649303 |
405 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379782747 rs1294759353 |
406 | Q>* | No |
ClinGen gnomAD |
|
|
CA379782752 rs1294759353 |
406 | Q>E | No |
ClinGen gnomAD |
|
|
CA5904677 rs758807447 |
406 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA218452274 rs143923730 |
407 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1273707643 CA379782699 |
408 | V>A | No |
ClinGen gnomAD |
|
|
CA379782710 rs1342547188 |
408 | V>M | No |
ClinGen gnomAD |
|
|
rs757625535 CA5904674 |
409 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5904672 rs763837481 |
410 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5904670 rs752129544 |
413 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA218452263 rs990375361 |
414 | P>A | No |
ClinGen gnomAD |
|
|
rs767006857 CA5904669 |
414 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs990375361 CA379782577 |
414 | P>T | No |
ClinGen gnomAD |
|
|
RCV001208555 rs1460150108 CA379782558 |
415 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA379782547 rs1254058662 |
416 | D>A | No |
ClinGen TOPMed |
|
|
CA5904666 rs762723760 |
417 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA379782506 rs1591992801 |
418 | L>P | No |
ClinGen Ensembl |
|
|
rs1483362552 CA379782498 |
419 | D>G | No |
ClinGen gnomAD |
|
|
rs546512220 CA5904665 |
420 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379782442 rs115931035 |
421 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5904664 rs761005701 COSM3687205 |
422 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA379782336 rs1244378437 RCV000819367 |
424 | E>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA379782349 rs1244378437 |
424 | E>K | No |
ClinGen gnomAD |
|
|
rs964230017 CA218452228 |
425 | Q>R | No |
ClinGen TOPMed |
|
|
CA379782293 rs1565043610 |
426 | G>E | No |
ClinGen Ensembl |
|
|
CA5904663 rs772148994 |
428 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 429 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776940763 CA5904302 |
430 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs746211878 CA5904299 |
436 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5904298 rs548507585 |
439 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5904297 rs771347766 |
440 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1591963639 CA379803851 |
441 | S>C | No |
ClinGen Ensembl |
|
|
CA5904294 rs769281868 |
442 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5904296 rs200182990 |
442 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756452832 CA5904265 |
446 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA379803573 rs1487696429 |
447 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA218487081 rs974123483 |
448 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs370437884 CA5904263 |
449 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5904264 rs767662810 |
449 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379803455 rs1477626816 |
452 | D>E | No |
ClinGen TOPMed |
|
|
CA379803460 rs1386200392 |
452 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5904261 rs766976437 |
452 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1299739444 CA379803441 |
453 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1365223252 CA379803453 |
453 | V>I | No |
ClinGen gnomAD |
|
|
CA5904258 rs770171347 |
454 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5904255 rs757163581 |
457 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904256 rs757163581 |
457 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904252 rs145832659 |
458 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5904253 rs145832659 |
458 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1432013715 CA379803328 |
459 | K>R | No |
ClinGen gnomAD |
|
|
CA5904251 rs143778195 |
460 | K>R | No |
ClinGen ESP ExAC |
|
|
CA5904227 rs774434089 |
462 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs745758540 CA5904228 |
462 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781240730 CA5904225 CA5904224 |
465 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368646619 CA379803190 |
465 | D>G | No |
ClinGen gnomAD |
|
|
CA5904223 rs755278326 |
466 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1257828310 CA379803171 |
467 | A>G | No |
ClinGen TOPMed |
|
|
rs747220783 CA5904222 |
467 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10576844 RCV000215071 rs876658110 |
468 | L>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5904220 rs758479938 |
470 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5904217 rs763628668 |
471 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs727505083 CA5904218 |
471 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5904215 rs760325149 |
472 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379803094 rs1309991987 |
474 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 476 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218486385 rs1019237939 |
476 | I>T | No |
ClinGen TOPMed |
|
|
rs1186647324 CA379803076 |
476 | I>V | No |
ClinGen TOPMed |
|
|
rs766984429 CA5904212 |
477 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1446151123 CA379803063 |
477 | G>R | No |
ClinGen gnomAD |
|
|
rs1326150281 CA379803048 |
478 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531977664 CA218486366 |
479 | V>M | No |
ClinGen 1000Genomes |
|
|
CA5904211 rs570951456 |
480 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379803036 rs1168173659 |
480 | V>L | No |
ClinGen TOPMed |
|
|
CA142338 RCV000969059 rs34077456 RCV000041275 |
483 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA379802945 rs747189986 RCV001317403 |
487 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5904208 rs747189986 |
487 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904209 rs374376964 |
487 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379802935 rs1288967494 |
489 | A>T | No |
ClinGen gnomAD |
|
|
rs1356054172 CA379802910 |
491 | E>A | No |
ClinGen gnomAD |
|
|
CA218486292 rs563952065 |
492 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563952065 RCV001224966 |
492 | R>P | No |
ClinVar dbSNP |
|
|
CA5904202 rs563952065 |
492 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA218486280 rs868121889 |
493 | H>L | No |
ClinGen TOPMed |
|
|
CA379802884 rs868121889 |
493 | H>P | No |
ClinGen TOPMed |
|
|
CA5904175 rs765150738 |
494 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA379802875 rs1437881760 |
494 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1437881760 CA379802877 |
494 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA218483326 rs953438071 |
496 | I>V | No |
ClinGen gnomAD |
|
|
CA5904174 rs566839242 |
498 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1403495776 CA379801320 |
499 | G>R | No |
ClinGen gnomAD |
|
|
CA379801304 rs1213198418 |
499 | G>V | No |
ClinGen gnomAD |
|
|
RCV001232033 CA379801259 rs371257969 |
501 | E>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA379801256 rs1431871453 |
501 | E>G | No |
ClinGen TOPMed |
|
|
CA5904172 rs371257969 |
501 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368663700 CA5904170 |
502 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA218483226 rs1049551355 |
503 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379801141 rs1424253933 |
505 | I>T | No |
ClinGen gnomAD |
|
|
rs770253708 CA5904168 |
506 | N>D | No |
ClinGen ExAC |
|
|
rs755400861 CA5904166 |
509 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904165 rs746605553 |
510 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1591956277 CA379800961 |
512 | D>N | No |
ClinGen Ensembl |
|
|
CA5904162 rs148477093 |
515 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379800810 rs1241182837 |
516 | A>D | No |
ClinGen TOPMed |
|
|
rs1202820677 CA379800787 |
517 | E>K | No |
ClinGen gnomAD |
|
|
rs1314409317 CA379800740 |
518 | A>V | No |
ClinGen gnomAD |
|
|
rs969806899 CA218483092 |
519 | E>A | No |
ClinGen TOPMed |
|
|
rs1312197424 CA379800684 |
520 | A>V | No |
ClinGen gnomAD |
|
|
CA5904158 rs766575368 |
521 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766575368 CA5904157 |
521 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379800484 rs1351451670 |
524 | K>N | No |
ClinGen gnomAD |
|
|
CA5904156 rs763066296 |
524 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379800449 rs1565018184 |
525 | A>G | No |
ClinGen Ensembl |
|
|
RCV001318503 CA379800291 rs773119803 |
529 | G>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001303610 rs1849306526 |
529 | G>S | No |
ClinVar dbSNP |
|
|
CA5904155 rs773119803 |
529 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379800242 rs1440436514 |
530 | G>E | No |
ClinGen gnomAD |
|
|
RCV000969058 CA142353 RCV000041281 COSM925497 rs142751309 COSM1585643 |
530 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA379799852 rs1313821930 |
531 | D>E | No |
ClinGen gnomAD |
|
|
CA379799873 rs1236256432 |
531 | D>N | No |
ClinGen gnomAD |
|
|
CA5904130 rs770331652 |
532 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs752664316 CA5904127 |
534 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5904128 rs201644053 |
534 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5904126 rs780784680 |
535 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379798856 rs1156833982 |
538 | A>V | No |
ClinGen gnomAD |
|
|
CA5904124 rs370178142 |
539 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765566026 CA5904123 |
540 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5904121 rs754015985 |
541 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA379798778 rs761342832 |
542 | P>A | No |
ClinGen TOPMed gnomAD |
|
| rs754257195 | 542 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218482065 rs761342832 |
542 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA218482070 rs761342832 |
542 | P>T | No |
ClinGen TOPMed gnomAD |
|
| rs754257195 | 544 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379798733 rs1428535843 |
544 | E>K | No |
ClinGen TOPMed |
|
|
CA379798719 rs1470295963 |
544 | E>V | No |
ClinGen TOPMed |
|
|
rs1591953977 CA379798705 |
545 | Y>D | No |
ClinGen Ensembl |
|
|
rs776066773 CA5904117 |
547 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256498846 CA379798612 |
548 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 549 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1055121763 CA218479360 |
550 | T>A | No |
ClinGen TOPMed |
|
|
rs949585064 CA218479359 |
550 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA379796551 rs949585064 |
550 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1420458735 CA379796530 |
551 | F>V | No |
ClinGen gnomAD |
No associated diseases with Q9Y6N9
3 regional properties for Q9Y6N9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | 14-3-3 protein, conserved site | 53 - 63 | IPR023409-1 |
| conserved_site | 14-3-3 protein, conserved site | 225 - 244 | IPR023409-2 |
| domain | 14-3-3 domain | 10 - 256 | IPR023410 |
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
| photoreceptor inner segment | The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs. |
| photoreceptor outer segment | The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| stereocilia ankle link complex | A complex of proteins that connect growing stereocilia in developing cochlear hair cells, composed of Vlgr1, usherin, vezatin, and whirlin. |
| stereocilium | An actin-based protrusion from the apical surface of auditory and vestibular hair cells and of neuromast cells. These protrusions are supported by a bundle of cross-linked actin filaments (an actin cable), oriented such that the plus (barbed) ends are at the tip of the protrusion, capped by a tip complex which bridges to the plasma. Bundles of stereocilia act as mechanosensory organelles. |
| stereocilium tip | A distinct compartment at the tip of a stereocilium, distal to the site of attachment to the apical cell surface. It consists of a dense matrix bridging the barbed ends of the stereocilium actin filaments with the overlying plasma membrane, is dynamic compared to the shaft, and is required for stereocilium elongation. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| spectrin binding | Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament bundle assembly | The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| brush border assembly | The aggregation, arrangement and bonding together of adjacent microvilli through the formation of Ca(2+)-dependent adhesion links between them, forming a brush border. |
| equilibrioception | The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion. |
| G2/M transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex. |
| inner ear auditory receptor cell differentiation | The process in which a relatively unspecialized inner cell acquires specialized features of an auditory hair cell. |
| inner ear morphogenesis | The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively. |
| inner ear receptor cell stereocilium organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of inner ear receptor cells. |
| parallel actin filament bundle assembly | Assembly of actin filament bundles in which the filaments are tightly packed (approximately 10-20 nm apart) and oriented with the same polarity. |
| photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
| protein localization to microvillus | A process in which a protein is transported to, or maintained in, a location within a microvillus. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of microvillus length | A process that modulates the length of a microvillus. |
| retinal cone cell development | Development of a cone cell, one of the sensory cells in the eye that reacts to the presence of light. Cone cells contain the photopigment iodopsin or cyanopsin and are responsible for photopic (daylight) vision. |
| sensory perception of light stimulus | The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZK8 | NHERF1 | Na | Bos taurus (Bovine) | SS |
| Q5ZM14 | NHERF1 | Na | Gallus gallus (Chicken) | SS |
| Q24008 | inaD | Inactivation-no-after-potential D protein | Drosophila melanogaster (Fruit fly) | PR |
| O14745 | SLC9A3R1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF1 | Homo sapiens (Human) | EV |
| Q86UT5 | PDZD3 | Na(+)/H(+) exchange regulatory cofactor NHE-RF4 | Homo sapiens (Human) | PR |
| P70441 | Slc9a3r1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF1 | Mus musculus (Mouse) | PR |
| Q99MJ6 | Pdzd3 | Na(+)/H(+) exchange regulatory cofactor NHE-RF4 | Mus musculus (Mouse) | PR |
| Q9JIL4 | Pdzk1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF3 | Mus musculus (Mouse) | PR |
| Q0QWG9 | Grid2ip | Delphilin | Mus musculus (Mouse) | PR |
| Q9JJ40 | Pdzk1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF3 | Rattus norvegicus (Rat) | PR |
| Q9JJ19 | Nherf1 | Na | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDRKVAREFR | HKVDFLIEND | AEKDYLYDVL | RMYHQTMDVA | VLVGDLKLVI | NEPSRLPLFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AIRPLIPLKH | QVEYDQLTPR | RSRKLKEVRL | DRLHPEGLGL | SVRGGLEFGC | GLFISHLIKG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GQADSVGLQV | GDEIVRINGY | SISSCTHEEV | INLIRTKKTV | SIKVRHIGLI | PVKSSPDEPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TWQYVDQFVS | ESGGVRGSLG | SPGNRENKEK | KVFISLVGSR | GLGCSISSGP | IQKPGIFISH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VKPGSLSAEV | GLEIGDQIVE | VNGVDFSNLD | HKEAVNVLKS | SRSLTISIVA | AAGRELFMTD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RERLAEARQR | ELQRQELLMQ | KRLAMESNKI | LQEQQEMERQ | RRKEIAQKAA | EENERYRKEM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EQIVEEEEKF | KKQWEEDWGS | KEQLLLPKTI | TAEVHPVPLR | KPKYDQGVEP | ELEPADDLDG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GTEEQGEQDF | RKYEEGFDPY | SMFTPEQIMG | KDVRLLRIKK | EGSLDLALEG | GVDSPIGKVV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VSAVYERGAA | ERHGGIVKGD | EIMAINGKIV | TDYTLAEAEA | ALQKAWNQGG | DWIDLVVAVC |
| 550 | |||||
| PPKEYDDELT | FF |