Q96DB5
PR
Gene name |
RMDN1 (FAM82B, CGI-90) |
Protein name |
Regulator of microtubule dynamics protein 1 |
Names |
RMD-1, hRMD-1, Protein FAM82B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51115 |
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 Q96DB5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96DB5-F1 | Predicted | AlphaFoldDB |
296 variants for Q96DB5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs537592205 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4799095 rs141308396 |
2 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141308396 CA4799094 |
2 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4799096 rs141308396 |
2 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371438018 rs1563672737 |
3 | L>P | No |
ClinGen Ensembl |
|
|
CA371438017 rs1563672737 |
3 | L>R | No |
ClinGen Ensembl |
|
|
CA4799091 rs770561324 |
4 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs749309130 CA4799090 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA371438008 rs551980232 |
5 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1420610130 CA371438011 |
5 | A>P | No |
ClinGen gnomAD |
|
|
rs551980232 CA4799089 |
5 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1284866 rs1026914855 CA180326292 |
6 | R>* | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371438007 rs1026914855 |
6 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4799088 rs146595616 |
6 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371438006 rs146595616 |
6 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467541857 CA371437988 |
9 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs754170402 CA180326282 |
9 | R>H | No |
ClinGen Ensembl |
|
|
CA4799086 rs532421390 |
10 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4799085 rs751772593 |
11 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA180326258 rs899761801 |
12 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4799082 rs374985237 |
13 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374985237 CA4799081 |
13 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367115525 CA371437964 |
14 | R>* | No |
ClinGen TOPMed |
|
|
rs765620304 CA4799080 |
15 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211150042 CA371437958 |
15 | R>H | No |
ClinGen TOPMed |
|
|
rs765620304 CA371437960 |
15 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371437951 rs1438020780 |
16 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4799079 rs762258354 |
17 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754199684 CA4799078 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566669187 CA4799077 |
18 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371437939 rs1395864488 |
19 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs759329797 CA180326228 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759329797 CA4799076 |
19 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774133599 CA4799075 |
20 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1586807561 CA371437929 |
21 | S>A | No |
ClinGen Ensembl |
|
|
rs770618745 CA4799074 |
21 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4799073 rs375542813 |
22 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371437925 rs375542813 |
22 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4799071 rs200923808 |
24 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4799069 rs781028658 |
28 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4799068 rs768422807 |
29 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307879016 CA371437878 |
30 | S>T | No |
ClinGen gnomAD |
|
|
CA371437873 rs1381581094 |
31 | R>G | No |
ClinGen gnomAD |
|
|
CA371437874 rs1381581094 |
31 | R>S | No |
ClinGen gnomAD |
|
|
rs914260794 CA180326173 |
33 | H>D | No |
ClinGen TOPMed |
|
|
rs1359725288 CA371437859 |
33 | H>R | No |
ClinGen gnomAD |
|
|
rs1003778945 CA180326169 |
35 | G>S | No |
ClinGen gnomAD |
|
|
rs747280673 CA4799066 |
36 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371437835 rs1173324031 |
37 | C>R | No |
ClinGen gnomAD |
|
|
rs758534778 CA4799063 |
38 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371437825 rs1586806960 |
38 | R>L | No |
ClinGen Ensembl |
|
|
rs1171145194 CA371437814 |
40 | R>C | No |
ClinGen gnomAD |
|
|
rs1338696839 CA371437805 |
41 | G>V | No |
ClinGen TOPMed |
|
|
rs530041497 CA4799062 |
43 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371437794 rs1346761358 |
43 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA371437686 rs1391023725 |
44 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs778929007 CA4799040 |
45 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371437658 CA4799039 rs757347318 |
46 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4799038 rs543759018 COSM3663912 |
47 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1161952683 CA371437630 |
48 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371437633 rs1345831315 |
48 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 49 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936601900 CA180325118 |
49 | G>V | No |
ClinGen gnomAD |
|
|
rs1231476603 CA371437613 |
50 | T>A | No |
ClinGen TOPMed |
|
|
rs1364731853 CA371437607 |
50 | T>S | No |
ClinGen gnomAD |
|
|
VAR_049028 rs6980476 CA4799037 |
52 | K>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA371437545 rs1214169467 |
55 | L>V | No |
ClinGen TOPMed |
|
|
CA4799036 rs564935319 |
56 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371437514 rs1193671043 |
57 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs371190357 CA4799034 |
58 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371437508 rs371190357 |
58 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750072955 CA4799032 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201398701 CA4799029 |
61 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4799030 rs761281168 |
61 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA371437484 rs201398701 |
61 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350882940 CA371437469 |
62 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA180325056 CA4799026 rs775081858 |
68 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA856360683 rs1433268531 |
68 | Y>* | No |
ClinGen TOPMed |
|
|
rs771897991 CA4799025 |
69 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4799024 rs746135554 |
71 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA371437343 rs1158287824 |
71 | I>M | No |
ClinGen gnomAD |
|
|
CA371437354 rs746135554 |
71 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371437328 rs1417517323 |
73 | Q>E | No |
ClinGen gnomAD |
|
|
rs774611282 CA4799023 |
73 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173856738 CA371437313 |
74 | A>S | No |
ClinGen gnomAD |
|
|
CA4799022 COSM1251967 rs770960852 |
75 | A>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs151325876 CA371437281 |
77 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151325876 CA4799021 |
77 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778449680 CA371437254 |
79 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778449680 CA4799020 |
79 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447439551 CA371437248 |
79 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 81 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214112354 CA371437212 |
82 | K>R | No |
ClinGen gnomAD |
|
|
CA4798982 rs766715344 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371433867 rs1378281499 |
87 | L>P | No |
ClinGen gnomAD |
|
|
rs1212369072 CA371433856 |
89 | Q>E | No |
ClinGen gnomAD |
|
|
CA4798980 rs142480071 |
90 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142480071 CA4798981 |
90 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371433837 rs1422336408 |
91 | D>E | No |
ClinGen gnomAD |
|
|
CA371433832 rs1194993240 |
92 | Y>C | No |
ClinGen gnomAD |
|
|
CA371433835 rs1237037954 |
92 | Y>H | No |
ClinGen TOPMed |
|
|
rs761909255 CA371433826 |
93 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4798978 rs761909255 |
93 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261468272 CA371433820 |
94 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs368241098 CA180313691 |
97 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368241098 CA4798974 |
97 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4798973 rs747337179 |
98 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA371433788 rs1296288938 |
99 | T>A | No |
ClinGen gnomAD |
|
|
CA371433777 rs1179077302 |
100 | E>D | No |
ClinGen TOPMed |
|
|
CA371433770 CA371433769 rs1338159815 |
101 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs924480650 CA180313678 |
101 | K>T | No |
ClinGen TOPMed |
|
|
rs1172299226 CA371433767 |
102 | L>V | No |
ClinGen TOPMed |
|
|
CA371433756 rs1302463341 |
103 | Y>* | No |
ClinGen gnomAD |
|
|
rs772413519 CA371433762 |
103 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772413519 CA4798971 |
103 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777374497 CA4798968 |
105 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371433745 rs1356352492 |
105 | L>S | No |
ClinGen gnomAD |
|
|
CA371433739 rs1389706501 |
106 | L>P | No |
ClinGen TOPMed |
|
|
CA4798967 rs755611388 |
106 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371433731 rs1330985731 |
108 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 108 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4798965 rs777969115 |
109 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371433667 rs1310112289 |
114 | D>G | No |
ClinGen gnomAD |
|
|
CA371433639 rs1374751932 |
118 | L>P | No |
ClinGen gnomAD |
|
|
rs1032139932 CA180312326 |
119 | W>C | No |
ClinGen TOPMed |
|
|
rs147563777 CA4798936 |
119 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765558848 CA4798935 COSM1673991 |
120 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs368672871 COSM1102189 CA4798934 |
120 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 121 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567301087 CA4798932 |
123 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4798933 rs753992602 |
123 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs867873356 CA180312270 |
124 | A>T | No |
ClinGen Ensembl |
|
|
CA371433598 rs1380580469 |
126 | R>G | No |
ClinGen gnomAD |
|
|
COSM1458478 CA4798931 rs200295883 |
126 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371433595 rs200295883 |
126 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78015199 CA180312266 |
127 | D>H | No |
ClinGen 1000Genomes |
|
|
CA371433583 rs1254320833 |
128 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371433582 rs1254320833 |
128 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA371433581 rs894848985 |
129 | A>P | No |
ClinGen gnomAD |
|
|
CA180312260 rs894848985 |
129 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371433576 rs139575643 |
130 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371433575 rs139575643 |
130 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4798929 rs139575643 |
130 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265043682 CA371433572 |
130 | Q>P | No |
ClinGen gnomAD |
|
|
rs759909872 CA4798928 |
132 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180312244 rs759909872 |
132 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4798927 rs201940414 |
133 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753447227 CA180312233 |
134 | T>S | No |
ClinGen Ensembl |
|
|
CA4798926 rs771200041 |
137 | E>A | No |
ClinGen ExAC |
|
|
CA371433532 rs1243008819 |
137 | E>K | No |
ClinGen TOPMed |
|
|
rs1239673539 CA371433522 |
138 | E>G | No |
ClinGen gnomAD |
|
|
rs200012220 CA180312188 |
138 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1351612964 CA371433506 |
140 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 141 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4798922 COSM606614 rs144513651 |
144 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA371433480 rs1322122039 |
144 | Y>C | No |
ClinGen gnomAD |
|
|
rs1311893798 CA371433484 |
144 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA371433481 rs1322122039 |
144 | Y>S | No |
ClinGen gnomAD |
|
|
CA371433460 rs1336179465 |
147 | L>P | No |
ClinGen TOPMed |
|
|
rs758342855 CA4798920 |
148 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs758342855 CA371433458 |
148 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
CA371433443 rs1361567504 |
150 | A>T | No |
ClinGen gnomAD |
|
|
CA371433437 rs1563612642 |
151 | K>E | No |
ClinGen Ensembl |
|
|
rs891287783 CA180312134 |
151 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 152 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4798918 rs778825372 |
152 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4798916 rs754131054 |
155 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1172617115 CA371433402 |
156 | K>R | No |
ClinGen gnomAD |
|
|
CA371433394 rs1477672173 |
157 | N>S | No |
ClinGen gnomAD |
|
|
CA371433358 rs1488525163 |
162 | A>E | No |
ClinGen gnomAD |
|
|
CA180312096 rs1051215859 |
162 | A>T | No |
ClinGen Ensembl |
|
|
CA371433356 rs1488525163 |
162 | A>V | No |
ClinGen gnomAD |
|
|
CA371433351 rs1371766774 |
163 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4798914 rs202165473 |
164 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4798893 rs781312195 |
166 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940769923 CA180310621 |
167 | Y>N | No |
ClinGen TOPMed |
|
|
CA4798892 rs139590482 |
169 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4798890 rs11539113 |
170 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201013925 CA371433020 |
170 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201013925 CA4798891 |
170 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750684877 CA4798888 |
171 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA180310584 rs930542781 |
173 | D>N | No |
ClinGen TOPMed |
|
|
rs187179896 CA371432993 |
174 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4798887 rs187179896 |
174 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371432981 rs1168410445 |
176 | D>Y | No |
ClinGen gnomAD |
|
|
rs760462378 CA4798885 |
177 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4798884 rs775260185 |
180 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4798883 rs771749052 |
181 | K>R | No |
ClinGen ExAC |
|
| TCGA novel | 184 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371432923 rs1182677411 |
184 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759077227 CA4798882 |
185 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1188168342 CA371432903 |
187 | A>G | No |
ClinGen TOPMed |
|
|
rs1195872008 CA371432907 |
187 | A>T | No |
ClinGen Ensembl |
|
|
CA4798880 rs770717754 |
188 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4798879 rs749115533 |
189 | I>V | No |
ClinGen ExAC |
|
|
CA4798877 rs769567276 |
190 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777499080 CA4798878 |
190 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4798876 rs748421848 |
194 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs766599443 CA4798858 |
196 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371432464 rs1306372773 |
199 | E>Q | No |
ClinGen gnomAD |
|
|
rs769620419 CA4798857 |
202 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241694693 CA371432420 |
202 | P>R | No |
ClinGen TOPMed |
|
|
CA4798856 rs747885951 |
205 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA180306354 rs987936798 |
206 | T>I | No |
ClinGen Ensembl |
|
|
CA4798855 rs776847515 |
208 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1379794367 CA371432329 |
210 | L>F | No |
ClinGen gnomAD |
|
|
CA4798854 rs768797567 |
211 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747248422 CA4798853 |
212 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs780054722 CA4798852 |
213 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571449684 CA4798836 |
214 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4798835 rs551351368 |
216 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4798833 rs775749961 |
218 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1258605691 CA371432110 |
219 | A>D | No |
ClinGen gnomAD |
|
|
rs1319843833 CA371432116 |
219 | A>T | No |
ClinGen gnomAD |
|
|
rs745911569 CA4798831 |
220 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180305297 rs1020695287 |
221 | M>I | No |
ClinGen Ensembl |
|
|
rs779577121 CA4798830 |
222 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371432056 rs1447300723 |
223 | W>R | No |
ClinGen TOPMed |
|
|
rs1397945208 CA371432051 |
223 | W>S | No |
ClinGen gnomAD |
|
|
CA371432036 rs1486159238 |
224 | Y>C | No |
ClinGen gnomAD |
|
| rs771191809 | 227 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302297695 CA371431957 |
229 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371431955 rs1302297695 |
229 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 232 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751214829 CA4798824 |
234 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4798823 rs766019117 |
235 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371431838 rs1166494948 |
237 | P>R | No |
ClinGen gnomAD |
|
|
CA180305251 rs903339056 |
240 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs757855099 CA4798822 |
241 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA371431790 rs757855099 |
241 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4798804 rs138797821 |
245 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371448948 rs770090488 |
246 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4798803 rs770090488 |
246 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371448934 rs1346436009 |
248 | F>S | No |
ClinGen TOPMed |
|
|
CA4798800 rs532044107 |
251 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4798801 rs532044107 |
251 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs964669145 CA180332022 |
252 | E>K | No |
ClinGen TOPMed |
|
|
CA180332018 rs1039971873 |
253 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA371448903 rs1039971873 |
253 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1304026557 CA371448899 |
253 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773619182 CA4798784 |
256 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770264778 CA4798783 |
258 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA371448856 rs1465430971 |
258 | F>V | No |
ClinGen gnomAD |
|
|
CA4798782 rs748595914 |
259 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA371448841 rs781662001 |
260 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4798781 rs781662001 |
260 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA371448822 rs1220742170 |
262 | N>K | No |
ClinGen TOPMed |
|
|
CA371448819 rs779137445 |
263 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4798780 rs779137445 |
263 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM281017 CA4798777 rs756781000 |
265 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4798778 rs756781000 |
265 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371448794 rs1201554309 |
267 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753287607 CA4798775 |
269 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1220897750 CA582919904 |
270 | Y>F | No |
ClinGen gnomAD |
|
|
rs1376437474 CA371448735 |
275 | N>K | No |
ClinGen TOPMed |
|
|
rs1319018196 CA371448724 |
277 | K>* | No |
ClinGen gnomAD |
|
|
CA180330885 rs1045942272 |
278 | L>V | No |
ClinGen Ensembl |
|
|
rs142797828 CA180330878 |
280 | A>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 280 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269297450 CA371448688 |
282 | W>* | No |
ClinGen gnomAD |
|
|
rs372625342 CA180330874 |
284 | M>V | No |
ClinGen Ensembl |
|
|
rs1233718908 CA371448663 |
286 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4798773 rs756144690 |
289 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767397231 CA4798771 |
290 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371448635 rs767397231 |
290 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376317535 CA4798770 |
291 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4798769 rs751865515 |
293 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4798768 rs766664051 |
293 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4798767 rs138294461 |
294 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1239318639 | 295 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773404997 CA4798766 |
296 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
CA4798765 rs765215692 |
298 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA371448580 rs1460910675 |
298 | Q>P | No |
ClinGen gnomAD |
|
|
CA4798726 rs778963981 |
299 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs368453426 CA371448556 |
300 | Q>E | No |
ClinGen ESP gnomAD |
|
|
rs368453426 CA180330606 |
300 | Q>K | No |
ClinGen ESP gnomAD |
|
|
CA371448552 rs1563577194 |
300 | Q>P | No |
ClinGen Ensembl |
|
|
rs143734293 CA180330603 |
304 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA180330602 rs1012594879 |
305 | Q>H | No |
ClinGen TOPMed |
|
|
CA4798725 rs757364223 |
305 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4798724 rs753803640 |
306 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761236348 CA4798722 |
307 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs767916080 CA4798720 |
308 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767916080 CA371448427 |
308 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4798719 rs150282224 |
310 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q96DB5
No regional properties for Q96DB5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96DB5 | |||
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitotic spindle pole | Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
| spindle microtubule | Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| attachment of mitotic spindle microtubules to kinetochore | The cell cycle process in which spindle microtubules become physically associated with the proteins making up the kinetochore complex as part of mitotic metaphase plate congression. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1JQC5 | RMDN3 | Regulator of microtubule dynamics protein 3 | Bos taurus (Bovine) | PR |
| Q96TC7 | RMDN3 | Regulator of microtubule dynamics protein 3 | Homo sapiens (Human) | PR |
| Q3UJU9 | Rmdn3 | Regulator of microtubule dynamics protein 3 | Mus musculus (Mouse) | PR |
| Q66H15 | Rmdn3 | Regulator of microtubule dynamics protein 3 | Rattus norvegicus (Rat) | PR |
| P34560 | rmd-1 | Regulator of microtubule dynamics protein 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALAARLWRL | LPFRRGAAPG | SRLPAGTSGS | RGHCGPCRFR | GFEVMGNPGT | FKRGLLLSAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYLGFETYQV | ISQAAVVHAT | AKVEEILEQA | DYLYESGETE | KLYQLLTQYK | ESEDAELLWR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LARASRDVAQ | LSRTSEEEKK | LLVYEALEYA | KRALEKNESS | FASHKWYAIC | LSDVGDYEGI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KAKIANAYII | KEHFEKAIEL | NPKDATSIHL | MGIWCYTFAE | MPWYQRRIAK | MLFATPPSST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YEKALGYFHR | AEQVDPNFYS | KNLLLLGKTY | LKLHNKKLAA | FWLMKAKDYP | AHTEEDKQIQ |
| 310 | |||||
| TEAAQLLTSF | SEKN |