Q9H3U7
PR
Gene name |
SMOC2 (SMAP2, MSTP117) |
Protein name |
SPARC-related modular calcium-binding protein 2 |
Names |
Secreted modular calcium-binding protein 2, SMOC-2, Smooth muscle-associated protein 2, SMAP-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64094 |
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 Q9H3U7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H3U7-F1 | Predicted | AlphaFoldDB |
415 variants for Q9H3U7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001328672 CA4102097 rs373406001 |
134 | V>I | Dentin dysplasia type I Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000210957 rs875989843 CA10576052 |
216 | C>* | Dentin dysplasia, type I, with extreme microdontia and misshapen teeth [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs747543999 CA4101968 |
3 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs989391913 CA152399501 |
4 | P>L | No |
ClinGen gnomAD |
|
|
rs1372592518 CA366488390 |
6 | L>F | No |
ClinGen gnomAD |
|
|
CA366488398 rs1415238145 |
7 | C>G | No |
ClinGen gnomAD |
|
|
CA366488410 rs1162825579 |
8 | W>* | No |
ClinGen gnomAD |
|
|
rs1420567835 CA366488420 |
10 | P>L | No |
ClinGen gnomAD |
|
|
CA152399503 rs888328418 |
10 | P>S | No |
ClinGen TOPMed |
|
|
rs1358410062 CA366488430 |
12 | L>F | No |
ClinGen gnomAD |
|
|
rs1005399761 CA152399509 |
13 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1303208128 CA366488438 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA366488463 rs1381303486 |
18 | P>A | No |
ClinGen gnomAD |
|
|
rs1267031394 CA366488467 |
18 | P>L | No |
ClinGen TOPMed |
|
|
CA366488468 rs1311420613 |
19 | V>M | No |
ClinGen gnomAD |
|
|
rs1283510395 CA366488479 |
20 | P>L | No |
ClinGen gnomAD |
|
|
rs1241877974 CA366488476 |
20 | P>S | No |
ClinGen gnomAD |
|
|
rs1215571987 CA366488482 |
21 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1215571987 CA366488480 |
21 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366488483 rs1238385224 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs1180577986 CA366488488 |
22 | Q>K | No |
ClinGen gnomAD |
|
|
CA366488497 rs1440336985 |
23 | K>T | No |
ClinGen gnomAD |
|
|
CA366488508 rs1378774701 |
24 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs544757615 CA152399560 |
24 | F>S | No |
ClinGen gnomAD |
|
|
rs1400313432 CA366488513 |
25 | S>W | No |
ClinGen gnomAD |
|
|
CA366488516 rs1176587330 |
26 | A>P | No |
ClinGen gnomAD |
|
|
rs922656607 CA152399562 |
26 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366488557 rs1392425701 |
30 | L>F | No |
ClinGen TOPMed |
|
|
rs778316789 CA4101986 |
33 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4101989 rs781613130 |
35 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757624601 CA4101988 |
35 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA152447813 rs935156908 |
37 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199869101 CA366488614 |
38 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1562562183 CA366488627 |
40 | C>Y | No |
ClinGen Ensembl |
|
|
rs746350725 CA4101990 |
41 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA152447820 rs141002558 |
45 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147685249 CA4101991 |
45 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141002558 COSM207834 CA4101992 |
45 | A>V | kidney Variant assessed as Somatic; 0.0001386 impact. large_intestine breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs367991904 CA366488666 |
46 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4101995 rs527301846 |
46 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4101996 rs367991904 |
46 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4101994 rs527301846 |
46 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366488667 rs367991904 |
46 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150344348 CA4101997 |
47 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201122523 CA4102000 |
48 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4101999 rs201929009 |
48 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4102006 rs550409938 |
54 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550409938 CA4102005 |
54 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4102007 rs750915958 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4102009 rs780110154 |
56 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs144833047 CA4102011 |
57 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1017111061 CA152447901 |
59 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4102012 rs371520228 |
59 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4102014 rs180941263 |
60 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs180941263 CA366488746 |
60 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1384532671 CA366488753 |
61 | L>V | No |
ClinGen TOPMed |
|
|
CA4102016 rs745834330 |
63 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138763725 CA4102017 |
63 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138763725 CA4102018 |
63 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 67 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3393981 CA4102020 rs201154391 |
68 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4102021 rs773919964 |
68 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152447948 rs1024590491 |
70 | K>N | No |
ClinGen Ensembl |
|
|
CA366488809 rs1316639503 |
70 | K>Q | No |
ClinGen gnomAD |
|
|
CA366488817 rs1443965710 |
71 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 71 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326405972 CA366488844 |
74 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1286059551 CA366488854 |
76 | L>V | No |
ClinGen gnomAD |
|
|
CA152447976 rs981811478 |
78 | I>T | No |
ClinGen gnomAD |
|
|
CA366488885 rs1583067107 |
80 | Y>* | No |
ClinGen Ensembl |
|
|
rs767802739 CA4102023 |
80 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1356114524 CA366488887 |
81 | R>* | No |
ClinGen gnomAD |
|
|
CA4102024 rs146188888 |
81 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366488890 rs1442962433 |
82 | G>R | No |
ClinGen gnomAD |
|
|
rs766932193 CA4102026 |
83 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs754339499 CA152448001 |
85 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs754339499 CA4102027 |
85 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4102048 rs186976793 |
87 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378145545 RCV000498688 CA366487905 |
90 | C>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs891295080 CA152457593 |
91 | V>M | No |
ClinGen Ensembl |
|
|
CA4102050 rs765267119 |
93 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765267119 CA4102049 |
93 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4102052 rs778122016 |
96 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA366487950 rs1483857440 |
97 | T>A | No |
ClinGen TOPMed |
|
|
rs1200300176 CA366487967 |
99 | E>G | No |
ClinGen TOPMed |
|
|
CA366487963 rs1255843862 |
99 | E>K | No |
ClinGen TOPMed |
|
|
rs369401675 CA4102053 |
101 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373126694 CA4102054 |
102 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375384503 CA4102056 COSM1235216 |
102 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4102055 rs373126694 |
102 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200578462 CA4102057 |
109 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1479338143 CA366488040 |
110 | I>V | No |
ClinGen gnomAD |
|
|
CA366488052 rs1194721000 |
112 | E>K | No |
ClinGen gnomAD |
|
|
CA366488060 rs1435076061 |
113 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4102059 COSM1698301 rs747750452 |
116 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4102061 rs772893266 |
117 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA366488091 rs150664211 |
117 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA152457636 rs150664211 |
117 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs760298244 CA4102062 |
118 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4102064 rs202082674 |
120 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4102065 rs759970239 |
121 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
rs267600895 CA152458361 |
125 | H>Q | No |
ClinGen Ensembl |
|
|
rs771923108 CA4102093 |
125 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366488173 rs1241808961 |
127 | Y>C | No |
ClinGen gnomAD |
|
|
CA4102094 rs752702580 |
128 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 129 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366488198 rs1463019476 |
131 | C>R | No |
ClinGen gnomAD |
|
|
CA152458380 rs1040877277 |
132 | W>C | No |
ClinGen Ensembl |
|
|
CA4102098 rs756749965 |
135 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377188362 CA366488242 |
137 | N>I | No |
ClinGen TOPMed |
|
|
rs1399958590 CA366488245 |
138 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366488253 rs1408262666 |
139 | R>K | No |
ClinGen gnomAD |
|
|
rs1270764666 CA366488257 |
139 | R>S | No |
ClinGen TOPMed |
|
|
CA152458396 rs201633969 |
141 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA366488270 rs1583082295 |
142 | S>R | No |
ClinGen Ensembl |
|
|
rs1000571767 CA152458398 |
143 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA366488289 rs1032447240 |
145 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA152458401 rs1032447240 |
145 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366488293 rs1273653117 |
145 | A>V | No |
ClinGen TOPMed |
|
|
CA4102102 rs149826528 |
146 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1562329429 CA366488303 |
147 | A>D | No |
ClinGen Ensembl |
|
|
CA366488313 rs1273797540 |
148 | H>Q | No |
ClinGen TOPMed |
|
|
CA366488315 rs1562329437 |
149 | K>E | No |
ClinGen Ensembl |
|
|
rs41266323 CA366488325 |
150 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4102103 rs41266323 |
150 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262598630 CA366488331 |
151 | P>L | No |
ClinGen gnomAD |
|
|
CA152458418 rs1034876366 |
151 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs971425315 CA152458420 |
152 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM3829690 rs1458226410 CA366488333 |
152 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs147526281 CA152458422 |
154 | P>L | No |
ClinGen ESP gnomAD |
|
|
CA366488347 rs147526281 |
154 | P>Q | No |
ClinGen ESP gnomAD |
|
|
rs1231464762 CA366488345 |
154 | P>T | No |
ClinGen gnomAD |
|
|
rs760957656 COSM1739279 CA4102126 |
157 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA366488989 rs1583096762 |
162 | P>L | No |
ClinGen Ensembl |
|
|
CA4102128 rs776903803 |
163 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4102130 rs200133836 COSM382933 |
164 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs544718652 CA4102131 |
164 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749841098 CA4102134 |
165 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs370827647 CA4102133 |
165 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4102135 rs755636652 |
166 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102136 rs779637425 |
167 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017670165 CA152465661 |
167 | T>R | No |
ClinGen TOPMed |
|
|
rs1197911795 CA366489019 |
168 | G>E | No |
ClinGen TOPMed |
|
|
CA4102137 rs147674906 |
169 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184899521 CA366489031 |
170 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs868137219 CA152465667 |
170 | T>K | No |
ClinGen Ensembl |
|
|
CA366489029 rs1184899521 |
170 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 171 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs188048748 CA4102163 |
174 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1562340087 CA366489147 |
174 | A>V | No |
ClinGen Ensembl |
|
|
rs1169559862 CA366489150 |
175 | A>S | No |
ClinGen TOPMed |
|
|
CA366489155 rs1324221129 |
176 | P>A | No |
ClinGen gnomAD |
|
|
CA152466864 rs960717513 |
177 | A>T | No |
ClinGen TOPMed |
|
|
rs377217277 CA4102164 |
177 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775673804 CA366489172 |
179 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102166 rs775673804 |
179 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102167 rs368616011 |
182 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252275030 CA366489196 |
182 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771869189 CA4102168 |
185 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA152466875 rs868464933 |
186 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs891757185 CA152466878 |
187 | E>D | No |
ClinGen Ensembl |
|
|
CA4102188 rs749504038 |
188 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs773071175 CA4102169 |
188 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA366489254 rs1406585207 |
189 | I>T | No |
ClinGen gnomAD |
|
|
rs1301036733 CA366489260 |
190 | A>V | No |
ClinGen gnomAD |
|
|
CA4102189 rs150983299 |
192 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1076098 CA4102190 rs773020464 |
192 | R>H | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1453353201 CA366489274 |
193 | Y>H | No |
ClinGen TOPMed |
|
|
rs1159573545 CA366489284 |
194 | P>R | No |
ClinGen TOPMed |
|
|
CA4102192 rs201190149 |
194 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375743211 CA4102195 |
198 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775336196 CA366489321 |
200 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775336196 CA4102196 |
200 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978652708 CA152467799 |
200 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762621822 CA4102197 |
201 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs573327652 CA4102198 |
202 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4102199 rs537430017 |
203 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555879111 CA4102202 |
204 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1754657 CA4102201 rs768075648 |
204 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA152467806 rs894733590 |
208 | T>I | No |
ClinGen TOPMed |
|
|
CA4102203 rs186504332 |
209 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140807244 CA4102204 RCV000881300 |
212 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4102235 rs768017680 |
213 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749504668 CA4102205 |
213 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1234969 rs1475770628 CA366453734 |
214 | S>L | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs761403556 CA4102237 |
215 | S>F | No |
ClinGen ExAC |
|
|
CA4102236 rs774101062 |
215 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1416379661 CA366453749 |
217 | D>N | No |
ClinGen TOPMed |
|
|
rs773499684 CA4102239 |
218 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4102240 rs144793825 |
221 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200475854 CA366453785 |
222 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766930534 CA4102241 |
223 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs146747157 CA4102242 |
224 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4102243 rs759704316 |
225 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4102244 rs765211821 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366453825 COSM174130 rs1326234379 |
228 | K>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1221813042 CA366453829 |
229 | Q>E | No |
ClinGen gnomAD |
|
|
CA366453843 rs1308336409 |
231 | K>E | No |
ClinGen gnomAD |
|
|
CA4102248 rs750297215 |
233 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs750297215 CA366453858 |
233 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1479404779 CA366453916 |
241 | A>E | No |
ClinGen gnomAD |
|
|
rs768233892 CA4102252 |
241 | A>T | No |
ClinGen ExAC |
|
|
CA366453918 rs1479404779 |
241 | A>V | No |
ClinGen gnomAD |
|
|
rs1056954555 CA152055043 |
242 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs551280549 CA4102255 |
243 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1409643251 CA366453934 |
244 | G>A | No |
ClinGen gnomAD |
|
|
CA4102258 COSM290342 rs561879643 |
244 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs777247241 CA4102259 |
245 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102261 rs201072162 |
246 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4102260 rs759915108 |
246 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs763107518 CA4102263 |
247 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775648942 CA4102262 |
247 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764473130 CA4102264 |
251 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1562371797 CA366453985 |
252 | H>L | No |
ClinGen Ensembl |
|
|
rs751796702 CA4102265 |
254 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4102266 rs367887452 |
255 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1583146154 CA366454012 |
257 | Y>D | No |
ClinGen Ensembl |
|
|
rs1198004331 CA366454020 |
258 | C>R | No |
ClinGen gnomAD |
|
|
rs554225332 CA4102269 |
261 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366454050 rs1389217737 |
262 | L>Q | No |
ClinGen gnomAD |
|
|
rs747716028 CA4102271 |
264 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777443867 CA4102275 |
265 | T>M | No |
ClinGen ExAC TOPMed |
|
|
rs777443867 CA4102273 |
265 | T>R | No |
ClinGen ExAC TOPMed |
|
|
CA4102277 rs760601817 |
266 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776824810 CA4102278 COSM207837 |
267 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199557237 CA4102279 |
267 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364766689 CA366454405 |
270 | P>A | No |
ClinGen gnomAD |
|
|
CA366454423 rs1357080033 |
271 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4102283 rs764245780 |
271 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102284 rs764245780 |
271 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366454420 rs1357080033 |
271 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366454438 rs1209013973 |
273 | S>T | No |
ClinGen gnomAD |
|
|
rs994887921 CA152055223 |
274 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1213062326 CA366454452 |
274 | T>K | No |
ClinGen gnomAD |
|
|
rs1195956393 CA366454751 |
275 | R>S | No |
ClinGen gnomAD |
|
|
CA366454459 rs1583146276 |
275 | R>W | No |
ClinGen Ensembl |
|
| TCGA novel | 276 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780524330 CA4102321 |
277 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780524330 CA4102322 |
277 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769226423 CA4102323 |
278 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275739503 CA366454777 |
279 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs779548630 CA4102324 |
279 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4102326 rs772161332 |
280 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1375932733 CA366454800 |
282 | D>E | No |
ClinGen gnomAD |
|
|
CA366454802 rs1583155992 |
283 | N>D | No |
ClinGen Ensembl |
|
|
CA4102327 rs773357473 |
283 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102328 rs369851366 |
284 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762895754 CA4102331 |
285 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA152064595 rs951253188 |
286 | R>T | No |
ClinGen Ensembl |
|
|
rs1411244582 CA366454833 |
288 | H>P | No |
ClinGen TOPMed |
|
|
rs374653850 CA4102332 |
288 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366454835 rs1411244582 |
288 | H>R | No |
ClinGen TOPMed |
|
|
CA4102333 rs202232933 |
289 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406656932 CA366454845 |
290 | A>V | No |
ClinGen gnomAD |
|
|
rs1330058116 CA366454858 |
292 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA366454865 rs767000930 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767000930 COSM1319128 CA4102335 |
293 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA366454863 rs1227508588 |
293 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA366454873 rs1426051898 |
294 | D>E | No |
ClinGen gnomAD |
|
|
CA4102336 rs750071592 |
295 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766863188 CA4102338 |
297 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4102339 rs754312110 |
297 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755390298 CA4102340 |
298 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4102341 rs143055665 |
299 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366454899 rs1229099466 |
299 | R>H | No |
ClinGen TOPMed |
|
|
rs1193957826 CA366454903 |
300 | Q>* | No |
ClinGen gnomAD |
|
|
CA366454908 rs1375052064 |
300 | Q>H | No |
ClinGen gnomAD |
|
|
rs748668451 CA4102342 |
301 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA366454917 rs1294918023 |
302 | Q>P | No |
ClinGen TOPMed |
|
|
rs148223188 CA4102369 |
305 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148223188 CA4102370 |
305 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288120149 CA366453522 |
305 | P>S | No |
ClinGen TOPMed |
|
|
CA4102372 rs143177295 |
307 | A>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4102374 rs373215603 |
310 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366453555 rs1176637788 |
310 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 311 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147516678 CA4102376 |
313 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366453596 rs1472709039 COSM1621204 |
316 | V>A | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4102378 rs756940691 |
316 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102380 rs140169041 |
318 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs921951281 CA366453609 |
319 | A>P | No |
ClinGen gnomAD |
|
|
CA152056807 rs921951281 |
319 | A>T | No |
ClinGen gnomAD |
|
|
CA4102381 rs764697383 |
319 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102384 rs200214134 |
322 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4102387 rs552020044 |
324 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377290618 CA4102388 |
325 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366453661 rs777915338 |
327 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366453658 rs1314166085 |
327 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4102390 rs777915338 |
327 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102392 rs139722655 |
328 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 330 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366453675 rs199774537 |
330 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102394 rs199774537 |
330 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366453681 rs1199554108 |
331 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366453683 rs1199554108 COSM119711 |
331 | P>T | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs200707323 CA4102395 |
333 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4102396 rs774971325 COSM1076099 |
334 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1002508931 CA152056925 |
336 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366453713 rs1002508931 |
336 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774651626 CA4102419 |
338 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4102418 rs774651626 |
338 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA366454109 rs1274283472 |
339 | S>L | No |
ClinGen gnomAD |
|
|
CA366454117 rs1362958070 |
340 | E>D | No |
ClinGen gnomAD |
|
|
CA152058724 rs370272779 |
341 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA4102422 rs760867564 |
342 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA366454127 rs1355022565 |
342 | D>E | No |
ClinGen gnomAD |
|
|
CA366454125 rs760867564 |
342 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs267600896 CA4102421 |
342 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1222953095 CA366454134 |
343 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4102423 rs201052599 |
344 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA366454140 CA4102424 rs754094439 |
344 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920860829 CA152058765 |
345 | H>R | No |
ClinGen TOPMed |
|
|
CA152058768 rs1033421385 |
346 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 347 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4102427 rs373685903 |
349 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4102430 rs560471120 |
350 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4102429 rs543344507 |
350 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152058792 rs991950351 |
352 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs991950351 CA366454182 |
352 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA152058805 rs777787288 |
353 | H>R | No |
ClinGen gnomAD |
|
|
rs967059676 CA366454200 |
354 | W>* | No |
ClinGen TOPMed |
|
|
CA152058815 rs967059676 |
354 | W>C | No |
ClinGen TOPMed |
|
|
CA4102432 rs779395504 |
355 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1583189291 CA366454204 |
355 | Y>D | No |
ClinGen Ensembl |
|
|
CA152058838 rs986373622 |
356 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs986373622 CA366454209 COSM450925 |
356 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1318827032 CA366454214 COSM450925 |
356 | F>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1250532440 CA366454232 |
359 | L>P | No |
ClinGen TOPMed |
|
|
CA366454259 rs1354205515 |
363 | S>P | No |
ClinGen gnomAD |
|
|
rs149774145 CA4102436 |
364 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4102437 rs149774145 |
364 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330657475 CA366454270 |
365 | G>R | No |
ClinGen gnomAD |
|
|
rs762102304 CA152058859 |
367 | I>V | No |
ClinGen Ensembl |
|
|
rs1267815922 CA366454292 COSM247476 |
368 | G>D | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4102440 rs561164298 |
368 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1267815922 CA366454294 |
368 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 370 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366454325 rs1461443933 |
372 | I>M | No |
ClinGen gnomAD |
|
|
CA152058894 rs868110324 |
374 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs770992223 RCV000497956 |
375 | F>missing | No |
ClinVar dbSNP |
|
|
rs776522540 CA4102442 |
378 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239536627 CA366454372 |
379 | L>R | No |
ClinGen gnomAD |
|
|
CA4102443 rs148539759 |
380 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs529365137 CA4102444 |
380 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 382 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4102445 rs752959166 |
385 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs767358033 CA4102447 |
387 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA366454449 rs1388190618 |
387 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750410223 CA4102448 |
391 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs755958696 CA4102449 |
393 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA366454520 rs1156582872 |
395 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4102453 rs754482354 |
398 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754482354 COSM741112 CA4102452 |
398 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 401 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366454570 rs1420222598 |
402 | K>* | No |
ClinGen gnomAD |
|
|
rs372697864 CA4102457 |
402 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747571265 CA4102458 |
403 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747571265 CA366454578 |
403 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366454583 rs1187273582 |
404 | I>T | No |
ClinGen gnomAD |
|
|
CA4102459 rs771390129 |
404 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366454594 rs1180151253 |
406 | V>E | No |
ClinGen gnomAD |
|
|
rs138048760 CA4102461 |
406 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366454593 rs138048760 |
406 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4102462 rs769977683 |
407 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA152059018 rs1041903275 COSM1266298 |
408 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA366454620 rs1334683703 |
410 | M>T | No |
ClinGen TOPMed |
|
|
CA366454617 rs1413757149 |
410 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763231099 CA366454628 |
411 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4102464 rs763231099 |
411 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA366454639 rs1407877489 |
413 | L>V | No |
ClinGen gnomAD |
|
|
CA4102465 rs767370970 |
414 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102467 rs35849878 RCV000963040 |
415 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4102468 rs766294842 |
416 | A>V | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201624579 CA4102471 COSM267468 |
420 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4102472 rs752376254 |
421 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366454694 rs1203700048 |
422 | A>T | No |
ClinGen gnomAD |
|
|
CA4102473 rs73789163 |
422 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366454704 rs1376145422 |
423 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA152059123 rs1048636985 |
423 | D>G | No |
ClinGen gnomAD |
|
|
rs747371889 CA4102475 |
424 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771319266 CA4102476 |
425 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781605111 CA4102477 |
425 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4102478 rs368210259 |
427 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4102479 rs529459047 |
427 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102480 rs529459047 |
427 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242937129 CA366454732 |
428 | H>L | No |
ClinGen TOPMed |
|
|
CA4102481 rs763105491 |
428 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102508 rs759304592 |
430 | P>R | No |
ClinGen ExAC |
|
|
rs1467951136 CA366454940 |
430 | P>S | No |
ClinGen gnomAD |
|
|
COSM3777314 COSM3777315 rs765197089 CA4102510 |
431 | R>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4102511 rs775400252 |
433 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867239424 CA152066060 |
433 | H>Y | No |
ClinGen Ensembl |
|
|
rs17855674 CA152066078 |
434 | A>V | No |
ClinGen Ensembl |
|
|
CA366454967 rs1446407395 |
435 | E>K | No |
ClinGen TOPMed |
|
|
rs763598813 CA4102513 |
437 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4102515 rs118133242 RCV000963194 |
439 | N>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 440 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138429562 CA152066109 |
440 | R>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA366455003 rs138429562 |
440 | R>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs756546560 CA4102518 |
440 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs138429562 CA4102517 |
440 | R>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA152066116 rs142768883 |
441 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4102571 rs200655327 |
442 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777760203 CA4102573 |
443 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4102572 rs758482172 |
443 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1330710212 CA366455200 |
444 | K>R | No |
ClinGen TOPMed |
1 associated diseases with Q9H3U7
[MIM: 125400]: Dentin dysplasia 1 (DTDP1)
A dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent. {ECO:0000269|PubMed:22152679}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent. {ECO:0000269|PubMed:22152679}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q9H3U7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain | 481 - 814 | IPR002073 |
| domain | GAF domain | 71 - 230 | IPR003018-1 |
| domain | GAF domain | 252 - 439 | IPR003018-2 |
| domain | HD/PDEase domain | 554 - 741 | IPR003607 |
| conserved_site | 3'5'-cyclic nucleotide phosphodiesterase, conserved site | 597 - 608 | IPR023174 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| basement membrane | A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. |
| cell periphery | The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| extracellular matrix binding | Binding to a component of the extracellular matrix. |
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
| positive regulation of DNA biosynthetic process | Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process. |
| positive regulation of endothelial cell chemotaxis | Any process that activates or increases the frequency, rate or extent of endothelial cell chemotaxis. |
| positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| positive regulation of fibroblast growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity. |
| positive regulation of mitotic cell cycle | Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. |
| positive regulation of vascular endothelial growth factor signaling pathway | Any process that activates or increases the frequency, rate or extent of vascular endothelial growth factor signaling pathway. |
| positive regulation of vascular wound healing | Any process that increases the rate, frequency, or extent of blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLPQLCWLP | LLAGLLPPVP | AQKFSALTFL | RVDQDKDKDC | SLDCAGSPQK | PLCASDGRTF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSRCEFQRAK | CKDPQLEIAY | RGNCKDVSRC | VAERKYTQEQ | ARKEFQQVFI | PECNDDGTYS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVQCHSYTGY | CWCVTPNGRP | ISGTAVAHKT | PRCPGSVNEK | LPQREGTGKT | DDAAAPALET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QPQGDEEDIA | SRYPTLWTEQ | VKSRQNKTNK | NSVSSCDQEH | QSALEEAKQP | KNDNVVIPEC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AHGGLYKPVQ | CHPSTGYCWC | VLVDTGRPIP | GTSTRYEQPK | CDNTARAHPA | KARDLYKGRQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LQGCPGAKKH | EFLTSVLDAL | STDMVHAASD | PSSSSGRLSE | PDPSHTLEER | VVHWYFKLLD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KNSSGDIGKK | EIKPFKRFLR | KKSKPKKCVK | KFVEYCDVNN | DKSISVQELM | GCLGVAKEDG |
| 430 | 440 | ||||
| KADTKKRHTP | RGHAESTSNR | QPRKQG |