Q9BRT8
PR
Gene name |
ZNG1A |
Protein name |
Zinc-regulated GTPase metalloprotein activator 1A |
Names |
Cobalamin synthase W domain-containing protein 1, COBW domain-containing protein 1, NPC-A-6 COBW domain-containing protein 1, NPC-A-6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55871 |
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
1 structures for Q9BRT8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BRT8-F1 | Predicted | AlphaFoldDB |
400 variants for Q9BRT8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA187749320 rs958195732 |
2 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs140498612 CA4956708 |
3 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368885445 CA372729746 |
4 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756773685 CA4956707 |
5 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA372729742 rs1369260441 |
5 | V>F | No |
ClinGen gnomAD |
|
|
CA4956706 rs751039004 |
6 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956705 rs778341192 |
7 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs16925054 CA372729726 |
8 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956703 rs138111691 |
8 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM4163677 CA4956702 COSM4163678 rs16925054 VAR_026979 |
8 | A>V | thyroid [Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1451187624 CA372729706 |
11 | E>G | No |
ClinGen gnomAD |
|
|
rs1403354241 CA372729709 |
11 | E>K | No |
ClinGen TOPMed |
|
|
rs1192744374 CA372729701 |
12 | E>K | No |
ClinGen gnomAD |
|
|
CA4956700 rs754010075 |
13 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM70023 rs1480028601 CA372729685 |
14 | P>A | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1251327878 CA372729683 |
14 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1251327878 CA372729682 |
14 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1480028601 CA372729684 |
14 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1268723273 CA372729673 |
16 | E>Q | No |
ClinGen TOPMed |
|
|
rs78134672 CA372729661 |
17 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766601199 CA4956699 |
17 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA372729657 rs1219852361 |
18 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs150369784 CA4956695 |
19 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372729650 rs1321565122 |
19 | C>G | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305165980 CA372729643 |
20 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4956694 rs764076118 |
20 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956693 rs762843745 |
21 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4956691 rs769666412 |
23 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956692 rs769666412 |
23 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372729616 rs1373535752 |
24 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372729617 rs1373535752 |
24 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA187749210 rs200809115 |
25 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs745676587 CA372729611 |
25 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745676587 CA4956690 |
25 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372729604 rs1427092868 |
26 | E>D | No |
ClinGen TOPMed |
|
|
CA372729601 rs1479839819 |
27 | T>A | No |
ClinGen TOPMed |
|
|
CA372729599 rs1172600515 |
27 | T>K | No |
ClinGen TOPMed |
|
|
rs1172600515 CA372729597 |
27 | T>M | No |
ClinGen TOPMed |
|
|
CA4956688 rs770777965 |
28 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770777965 CA372729593 |
28 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956689 rs770777965 |
28 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372729591 rs1398523706 |
29 | Q>E | No |
ClinGen TOPMed |
|
|
CA372729574 rs1481802264 |
31 | E>Q | No |
ClinGen gnomAD |
|
|
rs1317188358 CA372729567 |
32 | E>K | No |
ClinGen TOPMed |
|
|
rs777199396 CA4956686 |
33 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA372729552 rs1183673169 |
34 | E>K | No |
ClinGen gnomAD |
|
|
rs748565236 CA4956684 |
38 | L>P | No |
ClinGen ExAC |
|
|
CA4956685 rs758907704 |
38 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238673900 CA372729509 |
41 | K>E | No |
ClinGen gnomAD |
|
|
CA372729506 rs1336570933 |
41 | K>R | No |
ClinGen gnomAD |
|
|
rs754204471 CA4956681 |
43 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA372729492 rs1354861379 |
43 | P>Q | No |
ClinGen gnomAD |
|
|
CA372729493 rs754204471 |
43 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4956680 rs766582607 |
46 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1156592428 CA372729467 |
47 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs756345522 CA4956679 |
47 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA187749144 rs1020011703 |
47 | I>V | No |
ClinGen TOPMed |
|
|
rs1452653553 CA372729463 |
48 | T>S | No |
ClinGen gnomAD |
|
|
CA372729455 rs1160863159 |
49 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4956676 rs140333592 |
50 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372729444 rs1488525143 |
51 | L>S | No |
ClinGen TOPMed |
|
|
rs1395999384 CA372729318 |
53 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372729320 rs1395999384 |
53 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372729315 rs1587551888 |
53 | A>V | No |
ClinGen Ensembl |
|
|
rs1159050700 CA372729310 |
54 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372729308 rs1193152977 |
55 | K>E | No |
ClinGen gnomAD |
|
|
rs1203001596 CA372729299 |
56 | T>A | No |
ClinGen TOPMed |
|
|
rs769126568 CA4956644 |
56 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4956643 rs532781861 CA372729272 |
60 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372729250 rs1483368221 CA372729251 |
63 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372729247 rs1554634325 |
64 | T>A | No |
ClinGen Ensembl |
|
|
rs770001793 CA4956641 |
65 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4956640 rs781271291 |
67 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA4956639 rs781271291 |
67 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA372729219 rs1411112552 |
68 | S>T | No |
ClinGen gnomAD |
|
|
CA4956638 rs757560871 |
69 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751670033 CA4956637 |
70 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1013312125 CA187746871 |
70 | R>K | No |
ClinGen TOPMed |
|
|
CA4956636 rs778041061 |
71 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372729194 rs1409930501 |
72 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372729193 rs1409930501 |
72 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372729191 rs1311595343 |
73 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1414642345 CA372729181 |
74 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766354767 CA4956632 |
75 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1399213085 CA372729168 |
76 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4956631 rs760319989 |
77 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407500677 CA372729163 |
77 | E>Q | No |
ClinGen gnomAD |
|
|
CA372729154 rs562514686 |
78 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956630 rs562514686 |
78 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956629 rs562514686 |
78 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel CA372729150 rs1255423587 |
79 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA372729136 rs1185795478 |
81 | G>R | No |
ClinGen gnomAD |
|
|
rs1381009373 COSM487293 CA372729118 |
82 | S>G | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs775126258 CA4956606 |
82 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372729115 rs1441564113 |
82 | S>T | No |
ClinGen TOPMed |
|
|
rs550179420 CA4956603 |
83 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550179420 CA4956604 |
83 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372729091 rs1394012338 |
86 | K>T | No |
ClinGen TOPMed |
|
|
rs771373071 CA4956601 |
87 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs957166293 CA187744681 |
88 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA187744693 rs988953436 |
88 | L>V | No |
ClinGen TOPMed |
|
|
CA372729072 rs1325419228 |
89 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1392533101 CA372729076 |
89 | A>T | No |
ClinGen gnomAD |
|
|
CA372729071 rs1325419228 |
89 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs531776523 CA4956600 |
94 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956599 rs773502417 |
95 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372729029 rs1389394818 |
96 | L>V | No |
ClinGen gnomAD |
|
|
rs772487600 CA4956598 |
97 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372729005 rs1250776113 |
99 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4956597 rs748222835 |
100 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA372728984 rs1351076038 |
102 | E>G | No |
ClinGen Ensembl |
|
|
CA4956595 rs755973025 |
103 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956593 rs543191926 |
105 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956590 rs201248978 |
106 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956591 rs201248978 |
106 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369186802 CA372728948 |
108 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758099399 CA4956589 |
109 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752121431 CA4956588 |
110 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765611638 CA187744610 |
110 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1460437119 CA372728928 |
111 | S>A | No |
ClinGen gnomAD |
|
|
CA372728914 rs1369850515 |
113 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1226579859 CA372728887 |
114 | D>E | No |
ClinGen gnomAD |
|
|
rs1471982653 CA372728892 |
114 | D>Y | No |
ClinGen gnomAD |
|
|
CA4956573 COSM221745 rs12380 |
115 | S>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758224069 CA4956572 |
116 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185043617 CA372728879 |
116 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372728875 rs758224069 |
116 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255945820 CA372728874 |
117 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372728868 rs1181653281 |
118 | R>G | No |
ClinGen TOPMed |
|
|
rs1201361289 CA372728857 |
119 | A>G | No |
ClinGen gnomAD |
|
|
CA372728861 rs1563789758 |
119 | A>T | No |
ClinGen Ensembl |
|
|
rs551891460 CA4956570 |
120 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543200218 CA187743935 |
120 | I>V | No |
ClinGen gnomAD |
|
|
rs1387933143 CA372728836 |
122 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372728838 rs1259215473 |
122 | N>S | No |
ClinGen gnomAD |
|
|
rs754446143 CA4956568 |
124 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956567 rs370491858 |
125 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1353461421 CA372728813 |
125 | Q>H | No |
ClinGen gnomAD |
|
|
rs1230196650 CA372728815 |
125 | Q>L | No |
ClinGen gnomAD |
|
|
rs533358222 CA4956566 |
126 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1006261016 CA187743924 |
127 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs368893190 CA4956565 |
128 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368893190 CA372728795 |
128 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956562 rs550818839 |
129 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956563 rs767953247 |
129 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372728782 rs1369505052 |
130 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA372728767 rs1563789624 |
132 | Y>C | No |
ClinGen Ensembl |
|
|
rs1160694152 CA372728769 |
132 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1368421296 CA372728763 |
133 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1368421296 CA372728762 |
133 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372728753 rs1444493154 |
134 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 136 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4956560 rs768761804 |
137 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956561 rs768761804 |
137 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147578434 CA4956558 |
139 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198068208 CA372728719 |
140 | L>S | No |
ClinGen gnomAD |
|
|
CA372728711 rs1211927347 |
141 | A>E | No |
ClinGen gnomAD |
|
|
rs1563789517 CA372728714 |
141 | A>T | No |
ClinGen Ensembl |
|
|
rs746913250 CA4956555 |
142 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA372728703 rs1283536559 |
142 | D>E | No |
ClinGen gnomAD |
|
|
CA372728701 rs1245358054 |
143 | P>A | No |
ClinGen gnomAD |
|
|
rs1342106744 CA372728696 |
143 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 144 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372728675 rs1436100157 |
145 | A>V | No |
ClinGen gnomAD |
|
|
rs1204270229 CA372728674 |
146 | V>M | No |
ClinGen gnomAD |
|
|
rs1276495634 CA372728665 |
147 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA187741775 rs4631513 |
147 | A>T | No |
ClinGen Ensembl |
|
|
rs551622837 CA4956526 |
148 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551622837 CA4956525 |
148 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs533467525 CA187741767 |
149 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956524 rs533467525 |
149 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764329038 CA372728645 |
150 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956522 rs758817284 |
151 | W>L | No |
ClinGen ExAC |
|
|
rs145071511 CA4956521 |
152 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765450573 CA372728626 |
153 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956520 rs765450573 |
153 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372728622 rs1307979214 |
154 | A>T | No |
ClinGen gnomAD |
|
|
CA372728615 rs1396943372 |
155 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372728617 rs1396943372 |
155 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1372868947 CA372728598 |
157 | G>A | No |
ClinGen gnomAD |
|
|
rs1174363581 CA372728593 |
158 | S>N | No |
ClinGen gnomAD |
|
|
CA4956519 rs776752577 |
159 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956518 rs776752577 |
159 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562870941 CA187741754 |
159 | D>V | No |
ClinGen 1000Genomes |
|
|
CA4956517 rs542996992 |
160 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1426157678 CA372728582 |
160 | I>V | Variant assessed as Somatic; 4.691e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1478146574 CA372728567 |
162 | L>F | No |
ClinGen TOPMed |
|
|
rs1411258395 CA372728565 |
162 | L>P | No |
ClinGen gnomAD |
|
|
CA372728564 rs1411258395 |
162 | L>R | No |
ClinGen gnomAD |
|
|
rs1483338573 CA372728561 |
163 | D>G | No |
ClinGen gnomAD |
|
|
rs576025360 CA4956515 |
163 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4956478 rs746534526 |
164 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956514 rs768287287 |
164 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372728543 rs746534526 |
164 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372728542 rs746534526 |
164 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372728536 rs1185180163 |
165 | I>M | No |
ClinGen gnomAD |
|
|
CA4956477 rs778139952 |
165 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4956476 rs144855001 |
166 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364397343 CA372728522 |
168 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1188723568 CA372728509 |
170 | D>H | No |
ClinGen gnomAD |
|
|
rs1465870229 CA372728500 |
171 | S>A | No |
ClinGen gnomAD |
|
|
rs1587510997 CA372728489 |
172 | K>N | No |
ClinGen Ensembl |
|
|
CA187741346 rs1026555041 |
173 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4956473 rs755365082 |
174 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA372728481 CA4956474 rs533120675 |
174 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956472 rs753957503 |
175 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs184825180 CA4956427 |
177 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372728438 rs1249407985 |
178 | L>F | No |
ClinGen gnomAD |
|
|
CA4956426 rs149848390 |
178 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372728431 rs1490581630 |
180 | E>K | No |
ClinGen TOPMed |
|
|
rs780280561 CA187740318 |
181 | E>A | No |
ClinGen Ensembl |
|
|
CA187740316 rs866807026 |
182 | K>R | No |
ClinGen Ensembl |
|
|
rs1438143749 CA372728405 |
183 | P>L | No |
ClinGen gnomAD |
|
|
CA372728407 rs1209398811 |
183 | P>S | No |
ClinGen Ensembl |
|
|
CA4956424 rs753546435 |
185 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA372728388 rs1587493283 |
186 | L>F | No |
ClinGen Ensembl |
|
|
CA372728380 rs1271838124 |
187 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs755882416 CA4956422 |
187 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956423 rs766160153 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372728379 rs1283335474 |
188 | N>D | No |
ClinGen gnomAD |
|
|
rs1025845442 CA372728376 |
188 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA187740312 rs1025845442 |
188 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372728368 rs1349205434 |
189 | E>G | No |
ClinGen gnomAD |
|
|
CA372728357 rs1443395323 |
191 | T>A | No |
ClinGen gnomAD |
|
|
rs1431468638 CA372728354 |
191 | T>S | No |
ClinGen gnomAD |
|
|
CA372728336 rs2785333 |
192 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372728325 rs1246640848 |
194 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4956402 rs756952341 |
197 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs374323626 CA4956401 |
197 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372728300 rs1158370739 |
198 | D>G | No |
ClinGen gnomAD |
|
|
rs1261556568 CA372728303 |
198 | D>H | No |
ClinGen TOPMed |
|
|
CA4956400 rs763618794 |
200 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409954676 CA372728281 |
201 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1409954676 CA372728282 |
201 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs533028047 CA4956398 |
203 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1243385452 CA372728261 |
204 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 206 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200683662 CA4956395 |
212 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956396 rs150673332 |
212 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372728202 rs1587487837 |
213 | V>I | No |
ClinGen Ensembl |
|
|
rs1319231327 CA372728192 |
214 | K>R | No |
ClinGen gnomAD |
|
|
rs1563772189 CA372728184 |
215 | K>T | No |
ClinGen Ensembl |
|
|
rs760942821 CA4956393 |
216 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA4956392 rs773331119 |
217 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs2785332 CA187739923 |
218 | T>A | No |
ClinGen Ensembl |
|
|
rs139645785 CA4956390 |
218 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4956391 rs139645785 |
218 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745640489 CA4956387 |
220 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1179209313 CA372727929 |
223 | I>V | No |
ClinGen gnomAD |
|
|
CA372727897 rs1587480320 |
228 | Q>E | No |
ClinGen Ensembl |
|
|
rs1195865484 CA372727872 |
231 | E>G | No |
ClinGen TOPMed |
|
|
rs1465966992 CA372727876 |
231 | E>K | No |
ClinGen TOPMed |
|
|
CA372727851 rs1478017452 |
234 | R>T | No |
ClinGen TOPMed |
|
|
rs1262698841 CA372727843 |
235 | S>L | No |
ClinGen gnomAD |
|
|
rs1009380691 CA187739427 |
235 | S>P | No |
ClinGen TOPMed |
|
|
CA372727839 rs1432027148 |
236 | R>I | No |
ClinGen TOPMed |
|
|
rs1261198215 CA372727819 |
237 | V>A | No |
ClinGen gnomAD |
|
|
CA372727810 rs1240922058 |
238 | D>E | No |
ClinGen gnomAD |
|
|
CA4956341 rs537801417 |
239 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757661376 CA4956339 |
240 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1452907665 CA372727797 |
241 | N>D | No |
ClinGen gnomAD |
|
|
CA4956338 rs374879865 |
241 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372727789 rs1317927790 |
242 | V>L | No |
ClinGen gnomAD |
|
|
rs1381111913 CA372727778 |
244 | D>H | No |
ClinGen gnomAD |
|
|
CA372727775 rs1386357257 |
244 | D>V | No |
ClinGen gnomAD |
|
|
CA4956337 rs764368301 |
245 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA372727770 rs764368301 |
245 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs763008447 CA4956336 |
245 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs935057373 CA187738840 |
246 | H>P | No |
ClinGen TOPMed |
|
|
rs1407440203 CA372727754 |
247 | A>V | No |
ClinGen TOPMed |
|
|
CA4956334 rs766273556 |
248 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372727750 rs766273556 |
248 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372727742 rs1446639165 |
249 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4956333 rs760493777 |
250 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4956331 rs771709263 |
251 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372727726 rs1262360611 |
252 | S>P | No |
ClinGen gnomAD |
|
|
CA4956330 rs747982019 |
253 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372727719 rs1335301116 |
253 | G>R | No |
ClinGen gnomAD |
|
|
CA4956329 rs774139634 |
255 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587422608 CA372727100 |
257 | Q>R | No |
ClinGen Ensembl |
|
|
CA4956312 rs774332373 CA372727083 |
259 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372727084 rs1477972428 |
259 | K>T | No |
ClinGen TOPMed |
|
|
rs1438243990 CA372727076 |
261 | Q>K | No |
ClinGen TOPMed |
|
|
rs201261953 CA4956311 |
261 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201261953 CA187737735 |
261 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372727063 rs1321647775 |
262 | H>Q | No |
ClinGen TOPMed |
|
|
CA372727065 rs1407161023 |
262 | H>R | No |
ClinGen gnomAD |
|
|
CA372727068 rs1402720320 |
262 | H>Y | No |
ClinGen TOPMed |
|
|
CA372727051 rs1334337208 |
264 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1334337208 CA372727052 |
264 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1410712068 CA372727050 |
265 | G>R | No |
ClinGen gnomAD |
|
|
rs1398787278 CA372727043 |
266 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372727035 rs1469316356 |
267 | Q>P | No |
ClinGen gnomAD |
|
|
rs775305352 CA4956309 |
268 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4956310 rs762653806 |
268 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769125726 CA4956308 |
269 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA372727023 rs1374296642 |
269 | H>R | No |
ClinGen TOPMed |
|
|
CA372727003 rs1239149697 |
272 | Q>* | No |
ClinGen TOPMed |
|
|
rs1445737554 CA372722474 |
279 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372722456 rs1470899608 |
280 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372722386 rs1405584714 |
287 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1554620493 CA372722370 |
288 | E>* | No |
ClinGen Ensembl |
|
|
CA372722365 rs1157807945 |
288 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372722348 rs1346500400 |
289 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1470367342 CA372722355 |
289 | H>R | No |
ClinGen gnomAD |
|
|
rs1229341884 CA372722341 |
290 | L>R | No |
ClinGen TOPMed |
|
|
CA372722344 rs1356472557 |
290 | L>V | No |
ClinGen TOPMed |
|
|
rs1009977688 CA187756744 |
291 | N>H | No |
ClinGen TOPMed |
|
|
rs1259126688 CA372722287 |
294 | I>M | No |
ClinGen TOPMed |
|
|
rs1198405414 CA372722292 |
294 | I>N | No |
ClinGen TOPMed |
|
|
rs892437796 CA187756743 |
294 | I>V | No |
ClinGen TOPMed |
|
|
rs1159357838 CA372722279 |
295 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1248574574 CA372722198 |
300 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372722171 rs1415878458 |
302 | N>S | No |
ClinGen TOPMed |
|
|
rs1383674709 CA372722165 |
303 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA187756715 rs982586780 |
309 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA372722077 rs1381074951 |
310 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1342976381 CA372722043 |
312 | E>D | No |
ClinGen TOPMed |
|
|
CA187756423 rs878873072 |
318 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372721883 rs1191884203 |
320 | V>L | No |
ClinGen TOPMed |
|
|
CA372721853 rs1429288080 |
322 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372721795 rs1269590717 |
325 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775213337 CA4956291 |
326 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434176050 CA372721764 |
327 | Q>* | No |
ClinGen TOPMed |
|
|
CA4956290 rs529967170 |
327 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372721737 rs1587387286 |
328 | Q>H | No |
ClinGen Ensembl |
|
|
rs1398080295 CA372721732 |
329 | V>M | No |
ClinGen TOPMed |
|
|
rs1423714607 CA372721715 |
330 | I>V | No |
ClinGen gnomAD |
|
|
rs1362430597 CA372721690 |
331 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4956287 rs776246885 |
338 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4956288 rs758948008 |
338 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372721553 rs1187663788 |
340 | L>M | No |
ClinGen gnomAD |
|
|
CA372721535 rs1479078350 |
341 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1479078350 CA372721534 |
341 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372721508 rs1222256076 |
342 | E>D | No |
ClinGen gnomAD |
|
|
CA4956286 rs770378732 |
342 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs1000865795 CA187756405 |
343 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1202687983 CA372721450 |
346 | S>N | No |
ClinGen gnomAD |
|
|
CA4956283 rs772360638 |
349 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs367553415 CA4956284 |
349 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372721396 rs367553415 |
349 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4956282 rs748581495 |
351 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342321677 CA372721353 |
351 | T>N | No |
ClinGen gnomAD |
|
|
rs202014204 CA187756394 |
352 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4956281 rs778986426 |
353 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1385692905 CA372721327 |
353 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | R>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345761240 CA372721285 |
355 | N>K | No |
ClinGen TOPMed |
|
|
rs146331241 CA4956279 |
355 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373753728 CA372721275 |
356 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373753728 CA4956278 |
356 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4956277 rs756283266 |
359 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372721224 rs756283266 |
359 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372721220 rs1199258448 |
359 | L>P | No |
ClinGen gnomAD |
|
|
CA187756387 rs2257519 |
360 | L>I | No |
ClinGen Ensembl |
|
|
CA4956251 rs777839409 |
361 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141981893 CA4956249 |
363 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4956248 rs148294154 |
363 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372721079 rs141981893 |
363 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1404990394 CA372721054 |
365 | D>N | No |
ClinGen gnomAD |
|
|
CA372721033 rs1287570160 |
366 | K>E | No |
ClinGen gnomAD |
|
|
rs1159468756 CA372721023 |
366 | K>T | No |
ClinGen TOPMed |
|
|
CA4956247 rs754743201 |
367 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs368960302 CA187756163 |
368 | I>N | No |
ClinGen ESP TOPMed |
|
|
CA4956244 rs760167327 |
369 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4956245 rs760167327 |
369 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4956242 rs767977580 |
371 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA372720910 rs1203302662 |
374 | I>L | No |
ClinGen gnomAD |
|
|
rs769006425 CA4956239 |
374 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA372720875 rs1250094322 |
376 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs374210854 CA187756153 |
377 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA372720838 rs1286437837 |
378 | T>R | No |
ClinGen gnomAD |
|
|
CA372720832 rs1335032492 |
379 | E>K | No |
ClinGen TOPMed |
|
|
rs775774659 COSM1330809 CA4956237 |
384 | W>C | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA372720736 rs1194385700 |
384 | W>G | No |
ClinGen gnomAD |
|
|
rs143219982 CA4956238 |
384 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770197607 CA4956236 |
385 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA187756134 rs956896116 |
385 | T>S | No |
ClinGen TOPMed |
|
|
CA4956235 rs554059487 |
386 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372720691 rs1294140306 |
387 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA187756128 rs701800 |
387 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs701800 CA372720688 |
387 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372720693 rs1294140306 |
387 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372720679 rs1386196648 |
388 | F>I | No |
ClinGen gnomAD |
|
|
rs781382902 CA4956234 |
388 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs701799 CA187756121 |
389 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 390 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372720606 rs1563743135 |
391 | D>E | No |
ClinGen Ensembl |
|
|
rs771158094 CA4956232 |
392 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4956231 rs748061623 |
392 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4956230 rs778724577 |
395 | T>A | No |
ClinGen ExAC |
|
|
CA4956228 rs753636671 |
396 | T>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779661071 CA4956227 |
396 | T>S | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9BRT8
Without disease ID
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPAVGSADE | EEDPAEEDCP | ELVPIETTQS | EEEEKSGLGA | KIPVTIITGY | LGAGKTTLLN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YILTEQHSKR | VAVILNEFGE | GSALEKSLAV | SQGGELYEEW | LELRNGCLCC | SVKDSGLRAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENLMQKKGKF | DYILLETTGL | ADPGAVASMF | WVDAELGSDI | YLDGIITIVD | SKYGLKHLTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKPDGLINEA | TRQVALADAI | LINKTDLVPE | EDVKKLRTTI | RSINGLGQIL | ETQRSRVDLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NVLDLHAFDS | LSGISLQKKL | QHVPGTQPHL | DQSIVTITFE | VPGNAKEEHL | NMFIQNLLWE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KNVRNKDNHC | MEVIRLKGLV | SIKDKSQQVI | VQGVHELYDL | EETPVSWKDD | TERTNRLVLL |
| 370 | 380 | 390 | |||
| GRNLDKDILK | QLFIATVTET | EKQWTTRFQE | DQVCT |