Q7Z3Z2
PR
Gene name |
RD3 (C1orf36) |
Protein name |
Protein RD3 |
Names |
Retinal degeneration protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:343035 |
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
2 structures for Q7Z3Z2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6DRF | NMR | - | A | 19-153 | PDB |
| AF-Q7Z3Z2-F1 | Predicted | AlphaFoldDB |
204 variants for Q7Z3Z2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001700484 RCV000878815 rs35649846 VAR_031510 CA1381181 |
6 | W>R | Leber congenital amaurosis 12 an individual with an atypical late-onset form of retinitis pigmentosa; does not affect ability to suppress GUCY2D activity induced by GCAPA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001345984 rs372790239 CA1381179 |
7 | L>H | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142307843 CA1381178 RCV001326989 |
8 | R>W | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001297116 rs145054188 CA1381174 |
11 | E>K | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 12 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771644047 RCV002528264 RCV000520504 CA1381168 |
15 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003169681 rs376558739 RCV001346091 CA1381169 |
15 | R>W | Leber congenital amaurosis 12 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1705256764 RCV001312330 |
19 | R>W | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324353 rs371743426 CA1381165 |
22 | A>D | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000878814 CA1381164 rs34422496 VAR_031511 |
23 | E>D | Leber congenital amaurosis 12 an individual with an atypical late-onset form of retinitis pigmentosa [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000877797 rs61740157 CA1381161 |
28 | T>M | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1381159 RCV001237464 rs757374757 |
30 | M>K | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047267 rs368003568 CA1381158 |
32 | E>Q | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170306 RCV001814086 COSM1601615 rs786205148 CA274684 |
38 | R>* | Variant assessed as Somatic; 0.0 impact. liver Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 [NCI-TCGA, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA1381148 rs146921079 RCV000267087 |
45 | R>Q | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786205149 RCV000170307 |
46 | E>missing | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205150 CA274687 RCV000170308 |
46 | E>* | Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000877817 VAR_023050 RCV000153816 rs34049451 CA180366 |
47 | R>C | Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1381146 RCV001204424 rs756510440 |
47 | R>H | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001726018 CA274682 RCV000170305 rs762631020 |
60 | Y>* | Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001097935 CA1381130 rs775226280 |
61 | S>N | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001339114 CA1381124 rs777789102 |
68 | R>Q | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 12 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1381125 VAR_031514 rs144697496 RCV000528620 |
68 | R>W | Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 less effective in suppressing GUCY2D activity induced by GCAPA [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1381122 RCV000361694 rs752858252 |
76 | I>T | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000320925 CA1381119 rs199896612 |
78 | R>Q | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1381120 COSM1338626 rs755218137 RCV001349746 |
78 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Leber congenital amaurosis 12 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001052186 RCV000514985 CA1381114 rs200585050 |
87 | K>E | Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759162527 RCV001040260 CA1381111 |
95 | P>S | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368257358 RCV001304406 CA1381086 |
109 | P>S | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756475390 RCV001350126 CA1381081 |
119 | R>C | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001298504 CA1381076 rs764736043 |
123 | Q>L | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1401610655 RCV001044414 |
129 | M>K | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748059354 RCV001064688 CA344878757 |
158 | R>L | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1381057 RCV001000627 rs149051185 |
165 | D>A | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10609721 RCV000301021 rs746738197 |
165 | D>N | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 12 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000878362 rs74782684 CA1381054 VAR_031516 |
167 | R>K | Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1381051 RCV001347694 rs776821754 |
170 | S>F | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1381050 rs373687238 RCV001213608 |
171 | E>K | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775663367 RCV001354920 CA1381047 RCV000398931 |
176 | D>G | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10609720 rs747890482 RCV000369585 |
182 | R>Q | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000541074 RCV000514169 rs143207434 VAR_031517 RCV000593302 CA1381037 |
195 | D>V | Leber congenital amaurosis 12 (lca12) Leber congenital amaurosis 12 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779496653 RCV001000772 CA1381038 |
195 | D>Y | Leber congenital amaurosis 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA37186518 rs947744818 |
4 | I>L | No |
ClinGen Ensembl |
|
|
rs1558179899 CA344879735 |
4 | I>N | No |
ClinGen Ensembl |
|
|
rs766975675 CA344879719 CA1381180 |
6 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs35649846 CA344879725 |
6 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1381177 rs368631943 |
8 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1381176 rs761903612 |
9 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1381173 rs776478767 |
11 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1196066521 CA344879686 |
12 | A>T | No |
ClinGen TOPMed |
|
|
rs1194832270 CA344879679 |
13 | P>Q | No |
ClinGen gnomAD |
|
|
CA1381170 rs200497931 |
14 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344879676 rs1470201186 |
14 | S>P | No |
ClinGen gnomAD |
|
|
CA344879665 rs1342298648 |
16 | L>P | No |
ClinGen gnomAD |
|
|
rs1373093284 CA344879657 |
18 | T>P | No |
ClinGen gnomAD |
|
|
CA344879641 rs1434115294 |
20 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA37186516 rs985369066 |
21 | P>L | No |
ClinGen Ensembl |
|
|
rs151172389 CA37186517 |
21 | P>S | No |
ClinGen ESP |
|
|
CA1381166 rs371743426 |
22 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344879628 rs1288362858 |
23 | E>K | No |
ClinGen TOPMed |
|
|
rs780602217 CA1381163 |
24 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1401644440 CA344879613 |
25 | V>M | No |
ClinGen gnomAD |
|
|
rs1193809758 CA344879577 |
30 | M>I | No |
ClinGen gnomAD |
|
|
rs368003568 CA37186515 |
32 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344879564 rs1217522924 |
32 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1217522924 CA344879563 |
32 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1005047463 CA37186514 |
34 | T>A | No |
ClinGen Ensembl |
|
|
rs148242709 CA1381157 |
34 | T>M | Leber congenital amaurosis 12 (lca12) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148242709 CA37186513 |
34 | T>R | Leber congenital amaurosis 12 (lca12) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs530024772 VAR_031512 CA1381155 |
35 | G>R | Variant assessed as Somatic; 0.0 impact. does not affect ability to suppress GUCY2D activity induced by GCAPA [NCI-TCGA, UniProt] | No |
ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1220506481 CA344879533 |
37 | M>I | No |
ClinGen gnomAD |
|
|
rs766217814 CA344879529 |
38 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1381154 rs766217814 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773204569 CA1381152 |
40 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1381150 rs747677203 |
44 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747677203 CA344879491 |
44 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1381149 COSM3740986 rs369960606 |
45 | R>W | liver Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746306868 CA1381145 |
49 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1381144 rs140156866 |
50 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA37186512 rs745483958 |
50 | A>T | No |
ClinGen TOPMed |
|
|
CA1381143 rs140156866 |
50 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA344879451 rs1471639514 |
51 | V>L | No |
ClinGen gnomAD |
|
|
CA37186511 rs943888924 |
52 | R>K | No |
ClinGen Ensembl |
|
|
CA37186510 rs752946135 |
54 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1381139 rs752946135 |
54 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766020835 CA1381138 |
55 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281004005 CA344879420 |
56 | T>A | No |
ClinGen TOPMed |
|
|
CA344879414 rs750239049 |
57 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1491970 CA1381136 rs750239049 |
57 | G>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_031513 CA1381135 rs767481165 |
57 | G>V | Leber congenital amaurosis 12 (lca12) an individual with cone-rod degeneration; abolishes protein expression; less effective in suppressing GUCY2D activity by GCAPA [Ensembl, UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs773972641 CA1381133 |
58 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1381132 rs768315349 |
60 | Y>S | No |
ClinGen ExAC |
|
|
rs1272054276 CA344879391 |
61 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 61 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344879382 rs1348731729 |
62 | W>* | No |
ClinGen gnomAD |
|
|
CA1381129 rs769393565 |
65 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1451534362 CA344879358 |
66 | T>P | No |
ClinGen TOPMed |
|
|
CA1381126 rs771448293 |
67 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777789102 CA344879346 |
68 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758477729 CA1381123 |
70 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344879322 rs1558179659 |
72 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 74 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249040476 CA344879298 |
75 | P>L | No |
ClinGen gnomAD |
|
|
rs1558179652 CA344879301 |
75 | P>S | No |
ClinGen Ensembl |
|
|
rs199896612 CA37186507 |
78 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410405989 CA344879272 |
80 | Q>* | No |
ClinGen TOPMed |
|
|
rs1264747297 CA344879269 |
80 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1264747297 CA344879271 |
80 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1381115 rs143642612 |
86 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 87 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375539637 CA344879223 |
87 | K>R | No |
ClinGen gnomAD |
|
|
rs1375539637 CA344879224 |
87 | K>T | No |
ClinGen gnomAD |
|
|
CA344879218 rs1292328066 |
88 | I>F | No |
ClinGen gnomAD |
|
|
CA344879210 rs1558179609 |
89 | H>Y | No |
ClinGen Ensembl |
|
|
rs1395741451 CA344879195 |
91 | S>Y | No |
ClinGen gnomAD |
|
|
rs769456350 CA1381112 |
92 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344879185 rs1292063103 |
93 | C>S | No |
ClinGen TOPMed |
|
|
rs1157836749 CA344879167 |
95 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1419155278 CA344879151 |
98 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1381092 rs575487939 |
99 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375481136 CA344879127 |
100 | F>S | No |
ClinGen gnomAD |
|
|
CA1381090 rs763352078 |
101 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344879102 rs1460386035 |
104 | L>P | No |
ClinGen gnomAD |
|
|
CA1381089 rs761013430 |
105 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA37186343 rs761013430 |
105 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344879096 rs1430582799 |
106 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1187402642 CA344879083 |
107 | Q>L | No |
ClinGen gnomAD |
|
|
rs768626593 CA1381084 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1381083 rs749471506 |
111 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230090648 CA344879047 |
113 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1320223562 CA344879031 |
115 | S>T | No |
ClinGen gnomAD |
|
|
rs1044780517 CA37186341 |
116 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1381080 rs777761743 |
119 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1381079 rs777761743 |
119 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA344879004 rs777761743 |
119 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344878984 rs1451670241 |
123 | Q>* | No |
ClinGen TOPMed |
|
|
CA1381075 rs754458851 |
124 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA344878976 rs1164504706 |
124 | E>G | No |
ClinGen gnomAD |
|
|
rs1466807161 CA344878963 |
126 | L>P | No |
ClinGen TOPMed |
|
|
CA1381074 rs753444637 |
127 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344878943 rs1401610655 |
129 | M>T | No |
ClinGen gnomAD |
|
|
rs1400223690 CA344878936 |
130 | K>* | No |
ClinGen TOPMed |
|
|
CA1381073 VAR_031515 rs766015590 |
130 | K>M | an individual with cone-rod dystrophy features; less effective in suppressing GUCY2D activity by GCAPA [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1572140387 CA344878921 |
132 | E>* | No |
ClinGen Ensembl |
|
|
rs909555536 CA37186340 |
135 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA344878893 rs1198032436 |
136 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344878874 rs1367294650 |
138 | L>R | No |
ClinGen TOPMed |
|
|
CA1381071 rs773540460 |
139 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773540460 CA344878871 |
139 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375672881 CA1381072 |
139 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA37186339 rs1057304619 COSM532403 |
140 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1294661537 CA344878858 |
141 | Q>H | No |
ClinGen gnomAD |
|
|
rs767887514 CA1381070 |
142 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA344878841 rs1235031517 |
143 | S>R | No |
ClinGen TOPMed |
|
|
CA1381069 rs774736321 |
145 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174824692 CA344878831 |
146 | P>S | No |
ClinGen gnomAD |
|
|
rs769266262 CA1381067 |
147 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1393013845 CA344878823 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1392079913 CA344878817 |
148 | G>D | No |
ClinGen gnomAD |
|
|
CA1381066 rs371097322 |
149 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344878810 rs371097322 |
149 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1381065 rs750614342 |
150 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344878802 rs1156985607 |
151 | A>S | No |
ClinGen gnomAD |
|
|
rs908808124 CA344878794 |
152 | T>N | No |
ClinGen TOPMed |
|
|
rs908808124 CA37186338 |
152 | T>S | No |
ClinGen TOPMed |
|
|
rs777672130 CA1381062 |
155 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA344878769 rs1184666456 |
156 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA344878768 rs1453088308 |
156 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344878766 rs1453088308 |
156 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344878770 rs1184666456 |
156 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1558178836 CA344878761 |
157 | A>G | No |
ClinGen Ensembl |
|
|
rs1047786307 CA37186337 |
158 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA37186336 COSM1338624 rs748059354 |
158 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1381060 rs748059354 |
158 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778700426 COSM170884 CA1381058 |
160 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1349356435 CA344878743 |
161 | P>A | No |
ClinGen gnomAD |
|
|
CA344878725 rs1432892672 |
163 | A>V | No |
ClinGen TOPMed |
|
|
CA344878715 rs746738197 |
165 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs753310178 CA1381056 |
166 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1381053 rs750104713 |
168 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA344878691 rs1385815442 |
169 | I>N | No |
ClinGen gnomAD |
|
|
CA1381052 rs553502741 |
169 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776821754 CA344878683 |
170 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373687238 CA344878682 |
171 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193309752 CA344878675 |
172 | D>N | No |
ClinGen TOPMed |
|
|
COSM903481 CA344878667 rs1395026865 |
173 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA344878653 rs1455876072 |
175 | R>G | No |
ClinGen gnomAD |
|
|
CA344878650 rs1240670572 |
175 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1381046 rs770026897 |
179 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA344878611 rs747890482 |
182 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1381042 rs747890482 |
182 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344878578 rs1051185578 |
187 | P>A | No |
ClinGen TOPMed |
|
|
rs1268167803 CA344878576 |
187 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA37186335 rs1051185578 |
187 | P>T | No |
ClinGen TOPMed |
|
|
CA344878555 rs1307392174 |
190 | R>Q | No |
ClinGen gnomAD |
|
|
rs1327237796 CA344878556 COSM1223455 |
190 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1381041 rs778808934 |
191 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs778808934 CA344878548 |
191 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344878545 rs1432952517 |
192 | P>S | No |
ClinGen gnomAD |
|
|
CA344878541 rs1374882349 |
193 | K>E | No |
ClinGen gnomAD |
|
|
rs1174837696 CA344878537 |
193 | K>R | No |
ClinGen gnomAD |
|
|
rs779496653 CA1381039 |
195 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370045355 CA1381036 |
196 | D>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242351584 CA344878517 |
196 | D>W | No |
ClinGen gnomAD |
No associated diseases with Q7Z3Z2
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cone photoreceptor outer segment | The outer segment of a vertebrate cone photoreceptor that contains membrane discs that are contiguous with the ciliary membrane and containing opsin photoreceptor proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| 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. |
| rod photoreceptor outer segment | The outer segment of a vertebrate rod photoreceptor that contains sealed membrane discs that are not connected to the ciliary membrane and containing rhodopsin photoreceptor proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of guanylate cyclase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of guanylate cyclase activity. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| response to stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. |
| retina development in camera-type eye | The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLISWLRWN | EAPSRLSTRS | PAEMVLETLM | MELTGQMREA | ERQQRERSNA | VRKVCTGVDY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SWLASTPRST | YDLSPIERLQ | LEDVCVKIHP | SYCGPAILRF | RQLLAEQEPE | VQEVSQLFRS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLQEVLERMK | QEEEAHKLTR | QWSLRPRGSL | ATFKTRARIS | PFASDIRTIS | EDVERDTPPP |
| 190 | |||||
| LRSWSMPEFR | APKAD |