P21941
PR
Gene name |
MATN1 (CMP, CRTM) |
Protein name |
Cartilage matrix protein |
Names |
Matrilin-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4146 |
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 P21941
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P21941-F1 | Predicted | AlphaFoldDB |
439 variants for P21941
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA20091457 rs1034787145 |
3 | V>F | No |
ClinGen TOPMed |
|
|
CA339553109 rs1569839952 |
3 | V>G | No |
ClinGen Ensembl |
|
|
rs141192445 CA727876 |
4 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339553087 rs1475850568 |
5 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 7 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372761271 CA339553036 |
8 | S>R | No |
ClinGen gnomAD |
|
|
CA727875 rs780175693 |
9 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758411173 CA727874 |
10 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339552977 rs1259446682 |
12 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339552963 rs1211549495 |
13 | S>G | No |
ClinGen gnomAD |
|
|
CA727873 rs750599183 |
13 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA339552853 rs1269294274 |
19 | Q>H | No |
ClinGen gnomAD |
|
|
CA339552865 rs1569839854 |
19 | Q>P | No |
ClinGen Ensembl |
|
|
rs1217117969 CA339552834 |
20 | A>V | No |
ClinGen gnomAD |
|
|
CA20091397 rs866547570 |
23 | S>T | No |
ClinGen Ensembl |
|
|
rs200970309 CA727871 |
24 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374223380 CA339552706 |
26 | L>H | No |
ClinGen gnomAD |
|
|
rs754224196 CA727869 |
27 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1341701 rs1410669396 CA339552701 |
27 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs754224196 CA339552693 |
27 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20091381 rs769705013 |
28 | P>S | No |
ClinGen TOPMed |
|
|
rs1301021603 CA339552683 |
29 | Q>K | No |
ClinGen TOPMed |
|
| rs1419789464 | 29 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 30 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA727867 rs560474434 |
31 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1025884213 CA20090080 |
33 | H>R | No |
ClinGen TOPMed |
|
|
rs1247286952 CA339552392 |
34 | L>F | No |
ClinGen TOPMed |
|
|
rs1443287985 CA339552387 |
35 | C>R | No |
ClinGen gnomAD |
|
|
rs1371988383 CA339552385 |
35 | C>Y | No |
ClinGen gnomAD |
|
|
rs377079004 CA727845 |
36 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325497850 CA339552379 |
36 | R>W | No |
ClinGen gnomAD |
|
|
CA727844 rs142311837 |
37 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA727840 rs778488955 |
38 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778488955 CA727841 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727842 rs772858517 |
38 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776592355 CA727839 |
39 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs137886424 CA727838 |
40 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 43 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984320146 CA20090048 |
45 | V>A | No |
ClinGen Ensembl |
|
|
rs747015842 CA727837 |
46 | V>I | No |
ClinGen ExAC |
|
|
rs1244172961 CA339552320 |
47 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA339552314 rs1446926991 |
48 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339552305 rs1478714038 |
49 | S>P | No |
ClinGen TOPMed |
|
|
rs749462191 CA727834 |
50 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148907497 CA727833 |
50 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756503945 CA727832 |
51 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA339552291 rs781566373 |
51 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA727830 rs140983667 RCV000902037 |
52 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147880584 CA727828 |
53 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145452251 CA727829 |
53 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1053995182 CA20090008 |
54 | P>L | No |
ClinGen Ensembl |
|
|
rs765812546 CA727827 |
54 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA339552274 rs1211752294 |
55 | V>D | No |
ClinGen TOPMed |
|
|
rs762466980 CA727826 |
56 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs150046507 CA727824 |
59 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395182838 CA339552223 |
62 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1279197169 CA339552198 |
66 | Q>E | No |
ClinGen TOPMed |
|
|
CA20089995 rs199805173 |
66 | Q>R | No |
ClinGen Ensembl |
|
|
CA20089992 rs990515591 |
67 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA727822 rs776268380 |
69 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA727821 rs760462882 |
70 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727820 rs760462882 |
70 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727816 rs749407303 |
73 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA727814 rs769880937 |
74 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs778036773 CA727815 |
74 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748456095 CA727813 |
75 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781410794 CA727812 |
76 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA727811 rs141343287 |
77 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339552126 rs1276171119 |
78 | T>S | No |
ClinGen gnomAD |
|
|
rs143188575 CA727809 |
79 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751955959 CA727810 |
79 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA727808 rs757866113 |
80 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA339552098 rs1175502290 |
83 | V>F | No |
ClinGen TOPMed |
|
|
rs1057173393 CA20089901 |
86 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA727805 rs761359643 |
87 | S>G | No |
ClinGen ExAC |
|
|
rs780317932 CA727803 |
89 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA339552051 rs1421966125 |
90 | K>R | No |
ClinGen gnomAD |
|
|
CA339552031 rs1377313499 |
93 | F>L | No |
ClinGen gnomAD |
|
|
CA727802 rs760539636 |
94 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180180994 CA339552012 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759591542 CA727799 |
96 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773408276 CA727798 |
98 | H>R | No |
ClinGen ExAC |
|
|
CA339551963 rs1557453127 |
100 | S>F | No |
ClinGen Ensembl |
|
|
rs758525559 CA20089852 |
101 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 101 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368228632 CA727795 |
103 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs368228632 CA727794 |
103 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs1255883195 CA339551921 |
103 | A>V | No |
ClinGen gnomAD |
|
|
CA727792 rs147053030 |
105 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA727790 rs780438066 |
107 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400626979 CA339551872 |
108 | V>M | No |
ClinGen TOPMed |
|
|
CA727789 rs145698521 |
109 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200904252 CA727787 |
109 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727788 rs145698521 |
109 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA727786 rs141093038 |
110 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA727785 rs753382455 |
110 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20089800 rs763836893 |
111 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727784 rs763836893 |
111 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025618811 CA339551814 |
111 | I>N | No |
ClinGen TOPMed |
|
|
rs1025618811 CA20089791 |
111 | I>T | No |
ClinGen TOPMed |
|
|
CA727783 rs755759987 |
112 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA339551781 rs1186056524 |
113 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1403231511 CA339551790 |
113 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339551732 rs1178149663 |
117 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339551686 rs1569837068 |
120 | T>P | No |
ClinGen Ensembl |
|
|
rs774438649 CA727778 |
120 | T>S | No |
ClinGen ExAC |
|
|
CA339551651 rs776679810 |
121 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA727776 rs199984466 |
121 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA20089747 rs199984466 |
121 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA727775 rs776679810 |
121 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA20089740 rs1032299277 |
123 | A>P | No |
ClinGen Ensembl |
|
|
CA339551616 rs1353680791 |
123 | A>V | No |
ClinGen TOPMed |
|
|
CA339551613 rs1242539245 |
124 | I>F | No |
ClinGen gnomAD |
|
|
CA339551557 rs551211511 |
126 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA727773 rs747282696 |
127 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727772 rs775819396 |
127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA727771 rs772492630 |
128 | I>N | No |
ClinGen ExAC |
|
|
CA727770 rs746316523 |
129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs373584068 CA20089680 |
129 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs1279015907 CA339551497 |
130 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20089678 rs369857270 |
132 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756680336 CA727768 |
133 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20089658 rs937331820 |
134 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA727766 rs144034878 |
135 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339551389 rs1160381647 |
135 | A>V | No |
ClinGen TOPMed |
|
|
CA339551381 rs1158109294 |
136 | E>G | No |
ClinGen gnomAD |
|
|
CA727765 rs755811422 |
136 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs375306811 CA727763 |
137 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375306811 CA339551364 |
137 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372051087 CA727762 |
137 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA727761 rs751495784 |
139 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339551327 rs1266379225 |
139 | R>H | No |
ClinGen gnomAD |
|
|
rs1207888218 CA339551313 |
140 | S>T | No |
ClinGen gnomAD |
|
|
CA727760 rs766373392 |
141 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1350869609 CA339551238 |
144 | D>E | No |
ClinGen gnomAD |
|
|
CA727759 rs139247300 |
144 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20089590 rs940040459 |
147 | K>E | No |
ClinGen Ensembl |
|
|
CA20087551 rs1023729076 |
152 | V>L | No |
ClinGen TOPMed |
|
|
rs1569833326 CA339550212 |
154 | D>E | No |
ClinGen Ensembl |
|
|
CA727741 rs532842678 |
155 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA727740 rs764095565 |
156 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760765960 CA727739 |
156 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727738 rs752876629 |
157 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767692940 CA727737 |
158 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463295509 CA339550131 |
161 | V>M | No |
ClinGen gnomAD |
|
|
rs759801450 CA727736 |
164 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476797437 CA339550091 |
165 | S>F | No |
ClinGen gnomAD |
|
|
rs771263491 CA727734 |
166 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727735 rs774762404 |
166 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771263491 CA339550084 |
166 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339550077 rs1441339415 |
167 | R>Q | No |
ClinGen gnomAD |
|
|
CA20087490 rs769383820 |
169 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339550061 rs1257785227 |
169 | R>Q | No |
ClinGen gnomAD |
|
|
rs769383820 CA727731 |
169 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961208194 CA20087477 |
170 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA339550037 rs747694790 |
171 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA727729 rs768402925 |
172 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768402925 CA727728 |
172 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA339550016 rs1447305128 |
174 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339549996 rs1415597036 |
175 | L>P | No |
ClinGen TOPMed |
|
|
rs779894949 CA339549981 |
176 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA339549990 rs1189896630 |
176 | F>L | No |
ClinGen TOPMed |
|
|
CA727725 rs758133155 |
177 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149233548 CA727724 |
177 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20087434 rs1021430736 |
178 | I>N | No |
ClinGen Ensembl |
|
|
CA20087415 rs1011423396 |
180 | V>M | No |
ClinGen Ensembl |
|
|
rs1419854652 CA339549934 |
181 | G>D | No |
ClinGen gnomAD |
|
|
CA339549936 rs1485040052 |
181 | G>R | No |
ClinGen TOPMed |
|
|
rs1163801996 CA339549919 |
182 | S>R | No |
ClinGen gnomAD |
|
|
rs1235218125 CA339549902 |
184 | D>A | No |
ClinGen gnomAD |
|
|
rs757224357 CA727722 |
184 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339549889 rs1183401497 |
185 | K>* | No |
ClinGen gnomAD |
|
|
rs1457928506 CA339549884 |
185 | K>M | No |
ClinGen gnomAD |
|
|
CA339549883 rs1237255271 |
185 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1337414737 CA339549870 |
186 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1197083042 CA339549874 |
186 | A>S | No |
ClinGen gnomAD |
|
|
rs1291173044 CA339549863 |
187 | T>M | No |
ClinGen gnomAD |
|
|
CA339549869 rs1569833070 |
187 | T>P | No |
ClinGen Ensembl |
|
|
CA727720 rs767639483 |
189 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339549835 rs1190641593 |
191 | I>N | No |
ClinGen gnomAD |
|
|
CA339549818 rs1376361136 |
193 | S>R | No |
ClinGen gnomAD |
|
|
rs1329564412 CA339549815 |
194 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1329564412 CA339549817 |
194 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339549804 rs1444256536 |
195 | P>L | No |
ClinGen gnomAD |
|
|
CA339549805 rs1444256536 |
195 | P>Q | No |
ClinGen gnomAD |
|
|
CA727718 rs751730661 |
197 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324019841 CA339549786 |
197 | D>G | No |
ClinGen gnomAD |
|
|
CA727719 rs377571646 |
197 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA727716 rs763252668 |
200 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA727717 rs763252668 |
200 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA339549714 rs1320739798 |
202 | Y>* | No |
ClinGen TOPMed |
|
|
rs547190664 CA727714 |
203 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA727715 rs368571090 |
203 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339549701 rs1209606021 |
204 | E>* | No |
ClinGen gnomAD |
|
|
CA339549698 rs1379237153 |
204 | E>G | No |
ClinGen gnomAD |
|
|
CA727713 rs762462128 |
206 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs376007540 CA727711 |
208 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746606203 CA727710 |
208 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA339549655 rs376007540 |
208 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771859055 CA339549637 |
209 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775020233 CA727709 |
209 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs775020233 CA339549641 |
209 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1353113344 CA339549636 |
210 | E>K | No |
ClinGen gnomAD |
|
|
rs1458391544 CA339549624 |
211 | K>E | No |
ClinGen TOPMed |
|
|
rs1372399281 CA339549605 |
213 | S>P | No |
ClinGen TOPMed |
|
|
rs778726457 CA727706 |
214 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225788165 CA339549594 |
214 | R>T | No |
ClinGen gnomAD |
|
|
CA339549558 rs561529257 CA727704 |
216 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339549553 rs1435566831 |
217 | Q>* | No |
ClinGen gnomAD |
|
|
CA339549547 rs1301225869 |
217 | Q>H | No |
ClinGen gnomAD |
|
|
CA727703 rs781178330 |
217 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1050164707 CA20087305 |
218 | E>K | No |
ClinGen Ensembl |
|
|
CA339549534 rs1419734467 |
219 | A>S | No |
ClinGen gnomAD |
|
|
rs766544690 CA727700 CA339549516 |
220 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727701 rs751760528 |
220 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs755023763 CA727702 |
220 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs758690227 CA727699 |
221 | C>Y | No |
ClinGen ExAC |
|
|
CA339549494 rs765756099 CA727697 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765756099 CA727698 |
222 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397226312 CA339549107 |
223 | V>M | No |
ClinGen gnomAD |
|
|
rs1301804129 CA339549084 |
225 | D>E | No |
ClinGen gnomAD |
|
|
rs944761302 CA20085496 |
225 | D>N | No |
ClinGen Ensembl |
|
|
rs769598342 CA727665 |
227 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769598342 CA339549074 |
227 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368625645 CA727663 |
228 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746030241 CA727661 |
231 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746030241 CA20085429 |
231 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA727660 rs754899696 |
234 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs779300270 CA727659 |
237 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA339548921 rs1557450415 |
238 | C>* | No |
ClinGen Ensembl |
|
|
rs150581338 CA727657 COSM2154454 |
239 | I>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA339548914 rs1198981167 |
239 | I>S | No |
ClinGen gnomAD |
|
|
CA727656 rs368850211 |
240 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339548896 rs1569829366 |
241 | S>P | No |
ClinGen Ensembl |
|
|
rs1322298366 CA339548879 |
242 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA727652 rs766876497 |
243 | G>A | No |
ClinGen ExAC |
|
|
CA727653 rs138096521 |
243 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA727650 rs751169238 |
244 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1378579499 CA339548870 |
244 | S>P | No |
ClinGen gnomAD |
|
|
rs914976897 CA20085366 |
245 | Y>F | No |
ClinGen TOPMed |
|
|
rs914976897 CA339548859 |
245 | Y>S | No |
ClinGen TOPMed |
|
|
rs765987192 CA727649 |
246 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1569829269 CA339548834 |
247 | C>Y | No |
ClinGen Ensembl |
|
|
COSM185198 CA727646 rs373848420 |
248 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339548802 rs1368463766 |
250 | H>Y | No |
ClinGen gnomAD |
|
|
rs772231489 CA727644 |
251 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs772231489 CA727643 |
251 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs961102020 CA20085320 |
251 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339548755 rs1178280994 |
252 | G>R | No |
ClinGen gnomAD |
|
|
rs1456647269 CA339548746 |
252 | G>V | No |
ClinGen gnomAD |
|
|
CA339548741 rs1248112797 |
253 | F>L | No |
ClinGen gnomAD |
|
|
CA727641 rs779181572 |
255 | L>R | No |
ClinGen ExAC |
|
|
rs1488756797 CA339548692 |
257 | S>N | No |
ClinGen gnomAD |
|
|
rs1005400912 CA20085272 |
258 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 258 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA727639 rs749588810 |
259 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA727637 rs201729283 |
261 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1387767436 CA339548592 |
263 | N>S | No |
ClinGen gnomAD |
|
|
CA339548574 rs1390575592 |
264 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA727618 rs748511374 |
267 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20084709 rs894733130 |
269 | G>V | No |
ClinGen TOPMed |
|
|
rs1257785911 CA339548336 |
270 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA339548337 rs1444786427 |
270 | G>S | No |
ClinGen gnomAD |
|
|
CA339548319 rs1200651702 |
271 | S>T | No |
ClinGen gnomAD |
|
|
CA727617 rs781588451 |
272 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778071349 CA339548142 |
280 | I>L | No |
ClinGen TOPMed |
|
|
rs778071349 CA20084707 |
280 | I>V | No |
ClinGen TOPMed |
|
|
CA727615 rs145867220 |
282 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339548014 rs1046208247 |
285 | S>N | No |
ClinGen TOPMed |
|
|
CA20084694 rs1046208247 |
285 | S>T | No |
ClinGen TOPMed |
|
|
rs1569828552 CA339547990 |
287 | R>K | No |
ClinGen Ensembl |
|
|
CA727614 rs779476282 |
287 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1244925243 CA339547963 |
288 | P>L | No |
ClinGen TOPMed |
|
|
CA727612 rs749994405 |
289 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA20084669 rs1057484048 |
292 | E>K | No |
ClinGen TOPMed |
|
|
rs1395640850 CA339547755 |
298 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA727609 rs753652902 |
300 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764973909 CA727611 |
300 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA727610 rs756901014 |
300 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA727607 rs34163530 |
301 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA727605 rs766514736 |
303 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA727604 rs763120799 |
304 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203751718 CA339547640 |
305 | L>V | No |
ClinGen gnomAD |
|
|
rs201517537 CA339547624 |
306 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs567114277 CA727602 COSM534684 |
306 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs199657271 CA727600 |
307 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA20084584 rs867479661 |
308 | S>L | No |
ClinGen Ensembl |
|
|
CA339547493 rs1317589705 |
310 | K>N | No |
ClinGen TOPMed |
|
|
rs1326357469 CA339547442 |
313 | Q>* | No |
ClinGen TOPMed |
|
|
CA727597 rs780560904 |
314 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756928334 CA727593 |
317 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA727590 rs755991773 |
319 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339547326 rs755991773 |
319 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1448671269 CA339547251 |
321 | S>N | No |
ClinGen gnomAD |
|
|
CA20084452 rs986537386 |
321 | S>R | No |
ClinGen TOPMed |
|
|
CA727589 rs752638041 |
322 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339547204 rs1330472768 |
323 | V>L | No |
ClinGen gnomAD |
|
|
rs141354318 CA727586 |
324 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA727584 COSM464419 rs781008601 |
324 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA727585 rs781008601 |
324 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141354318 CA727587 |
324 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339547127 rs1472178468 |
326 | E>K | No |
ClinGen gnomAD |
|
|
rs776855583 CA339547094 |
327 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs776855583 CA339547090 |
327 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs776855583 CA727583 |
327 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs761058622 CA727581 |
328 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772610775 CA727579 |
331 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA727578 rs772610775 |
331 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA727577 rs151156355 |
331 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778418576 CA727576 |
333 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339546909 rs1569828220 |
335 | K>R | No |
ClinGen Ensembl |
|
|
CA339546896 rs1209246719 |
336 | K>Q | No |
ClinGen gnomAD |
|
|
CA727574 rs748899372 |
339 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA727573 rs755867174 |
340 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1214625 CA727572 rs755867174 |
340 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA727569 rs143893133 COSM169815 |
343 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201435688 CA727570 |
343 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339546664 rs1340638195 CA339546662 |
345 | M>I | No |
ClinGen TOPMed |
|
|
rs751460285 CA727568 |
345 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201929057 CA727567 |
347 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA20084351 rs990278390 |
348 | M>I | No |
ClinGen TOPMed |
|
|
rs761821885 CA727566 |
348 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754020215 CA727565 |
352 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764271977 CA727564 |
354 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479211761 CA339546449 |
355 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA727562 rs775827099 |
356 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA727561 rs772326601 |
357 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA339546418 rs1458581163 |
358 | L>V | No |
ClinGen gnomAD |
|
|
rs766182364 CA20084316 |
359 | K>E | No |
ClinGen Ensembl |
|
|
CA339546397 rs1478096292 |
359 | K>R | No |
ClinGen TOPMed |
|
|
rs1569828024 CA339546380 |
360 | Y>S | No |
ClinGen Ensembl |
|
|
rs1368151496 CA339546339 |
362 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339546298 rs1198790197 |
364 | N>S | No |
ClinGen TOPMed |
|
|
rs760030582 CA727560 |
365 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA727559 rs181457111 |
368 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339546155 rs1222795313 |
370 | S>T | No |
ClinGen TOPMed |
|
|
rs1437565939 CA339546134 |
371 | G>V | No |
ClinGen TOPMed |
|
|
CA339546121 rs1353183253 |
372 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748772514 CA727557 |
374 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748772514 CA339546088 |
374 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727555 rs371564845 |
375 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339545941 rs1569827922 |
379 | V>G | No |
ClinGen Ensembl |
|
|
rs1253090556 CA339545912 |
380 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1419796411 CA339545797 |
387 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370234769 CA727553 |
387 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 388 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156534384 CA339545724 |
389 | Q>H | No |
ClinGen gnomAD |
|
|
rs754746855 CA727552 |
389 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs758373019 CA727549 |
390 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779887344 CA727551 |
390 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779887344 CA727550 |
390 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA339545668 rs1569827847 |
392 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 394 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA727548 rs189562443 |
394 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756260150 CA727546 |
395 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752873968 CA727545 |
396 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1175809586 CA339545542 |
399 | A>S | No |
ClinGen TOPMed |
|
|
rs759849678 CA727543 |
400 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339545501 rs1212479761 |
402 | L>F | No |
ClinGen gnomAD |
|
|
CA20084195 rs757927209 |
402 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA20084182 rs768820610 |
403 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1214624 rs768820610 CA727541 |
403 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA727524 rs746711519 |
403 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461914821 CA339545116 |
406 | M>I | No |
ClinGen gnomAD |
|
|
rs1238522811 CA339545092 |
410 | G>R | No |
ClinGen TOPMed |
|
|
rs369487177 CA727519 |
415 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202185699 CA339545054 |
416 | E>* | No |
ClinGen TOPMed |
|
|
CA339545040 rs1182005971 |
418 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761444542 CA727517 |
421 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 422 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345995495 CA339544993 |
425 | E>Q | No |
ClinGen TOPMed |
|
|
rs1249546057 CA339544981 |
426 | P>L | No |
ClinGen gnomAD |
|
|
rs899563592 CA20083649 |
428 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs899563592 CA339544970 |
428 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1378737313 CA339544933 |
433 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1378737313 CA339544934 |
433 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746735003 CA727514 |
434 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542638247 CA339544926 |
434 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542638247 CA727513 COSM1602188 |
434 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs745755136 CA727511 |
435 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339544908 rs1569826971 |
437 | F>S | No |
ClinGen Ensembl |
|
|
CA727510 rs770895153 |
438 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727509 rs770895153 |
438 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339544896 rs1365018454 |
439 | T>S | No |
ClinGen gnomAD |
|
|
CA727507 rs781387487 |
440 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755148507 CA727505 |
442 | Q>P | No |
ClinGen ExAC |
|
|
rs751809590 CA727504 |
443 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148083193 CA20083549 |
443 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA339544865 rs1418313437 |
444 | G>S | No |
ClinGen gnomAD |
|
|
CA339544854 rs780510349 |
445 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1380749536 CA339544835 |
448 | Q>* | No |
ClinGen TOPMed |
|
|
CA20083514 rs1052105831 |
448 | Q>R | No |
ClinGen gnomAD |
|
|
CA339544824 rs1219689179 |
449 | K>N | No |
ClinGen gnomAD |
|
|
rs56851503 CA727500 RCV000974833 |
449 | K>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 450 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762432132 CA727499 |
450 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA339544813 rs1442710417 |
451 | I>T | No |
ClinGen TOPMed |
|
|
CA339544690 rs1341182877 |
454 | E>A | No |
ClinGen gnomAD |
|
|
rs1569825878 CA339544660 |
456 | D>A | No |
ClinGen Ensembl |
|
|
rs750795869 CA727482 |
457 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727481 rs149183344 |
457 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750795869 CA20082929 |
457 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930080393 CA20082906 |
461 | E>K | No |
ClinGen gnomAD |
|
|
rs1428466637 CA339544586 |
462 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 464 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444912975 CA339544536 |
465 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA727475 rs752243278 |
467 | Q>R | No |
ClinGen ExAC |
|
|
CA727474 rs767134622 |
468 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461161462 CA339544479 |
469 | K>E | No |
ClinGen gnomAD |
|
|
CA727473 rs568562938 |
470 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774124762 CA727472 |
471 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA727471 rs770761422 |
472 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA727469 rs773226779 |
475 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1313744448 CA339544357 |
476 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313744448 CA339544361 |
476 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339544350 rs1304277096 |
476 | A>V | No |
ClinGen TOPMed |
|
|
rs1453040091 CA339544338 |
478 | T>A | No |
ClinGen gnomAD |
|
|
CA339544325 rs1405055472 |
478 | T>I | No |
ClinGen gnomAD |
|
|
CA339544330 rs1405055472 |
478 | T>N | No |
ClinGen gnomAD |
|
|
rs12401572 CA20082842 |
480 | K>I | No |
ClinGen Ensembl |
|
|
rs1374222661 CA339543796 |
481 | L>P | No |
ClinGen TOPMed |
|
|
CA727455 rs754556650 |
483 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1232761715 CA339543762 |
483 | A>S | No |
ClinGen gnomAD |
|
|
rs754556650 CA339543760 |
483 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA20082275 rs1038480675 |
487 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA20082290 rs898557693 |
487 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1221922502 CA339543661 |
490 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 492 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339543615 rs1357485008 |
494 | T>S | No |
ClinGen gnomAD |
|
|
CA339543582 rs1225222197 |
496 | V>A | No |
ClinGen gnomAD |
|
|
rs535165123 CA727453 |
496 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with P21941
5 regional properties for P21941
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EGF-like domain | 226 - 263 | IPR000742 |
| domain | EGF-like calcium-binding domain | 231 - 263 | IPR001881 |
| domain | von Willebrand factor, type A | 39 - 218 | IPR002035-1 |
| domain | von Willebrand factor, type A | 273 - 452 | IPR002035-2 |
| domain | Matrilin, coiled-coil trimerisation domain | 450 - 496 | IPR019466 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| extracellular matrix structural constituent | The action of a molecule that contributes to the structural integrity of the extracellular matrix. |
4 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. |
| growth plate cartilage chondrocyte morphogenesis | The process in which the structures of a chondrocyte in the growth plate cartilage are generated and organized. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of bone mineralization | Any process that modulates the frequency, rate or extent of bone mineralization. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q868Z9 | Ppn | Papilin | Drosophila melanogaster (Fruit fly) | SS |
| Q04721 | NOTCH2 | Neurogenic locus notch homolog protein 2 | Homo sapiens (Human) | EV |
| P46531 | NOTCH1 | Neurogenic locus notch homolog protein 1 | Homo sapiens (Human) | EV |
| Q6GUQ1 | Egfl8 | Epidermal growth factor-like protein 8 | Mus musculus (Mouse) | PR |
| Q01705 | Notch1 | Neurogenic locus notch homolog protein 1 | Mus musculus (Mouse) | SS |
| Q91V88 | Npnt | Nephronectin | Mus musculus (Mouse) | PR |
| O35516 | Notch2 | Neurogenic locus notch homolog protein 2 | Mus musculus (Mouse) | SS |
| P51942 | Matn1 | Cartilage matrix protein | Mus musculus (Mouse) | PR |
| Q9QW30 | Notch2 | Neurogenic locus notch homolog protein 2 | Rattus norvegicus (Rat) | SS |
| Q07008 | Notch1 | Neurogenic locus notch homolog protein 1 | Rattus norvegicus (Rat) | SS |
| P13508 | glp-1 | Protein glp-1 | Caenorhabditis elegans | EV |
| A2RUV0 | notch1 | Neurogenic locus notch homolog protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| P46530 | notch1a | Neurogenic locus notch homolog protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRVLSGTSLM | LCSLLLLLQA | LCSPGLAPQS | RGHLCRTRPT | DLVFVVDSSR | SVRPVEFEKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KVFLSQVIES | LDVGPNATRV | GMVNYASTVK | QEFSLRAHVS | KAALLQAVRR | IQPLSTGTMT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLAIQFAITK | AFGDAEGGRS | RSPDISKVVI | VVTDGRPQDS | VQDVSARARA | SGVELFAIGV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GSVDKATLRQ | IASEPQDEHV | DYVESYSVIE | KLSRKFQEAF | CVVSDLCATG | DHDCEQVCIS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPGSYTCACH | EGFTLNSDGK | TCNVCSGGGG | SSATDLVFLI | DGSKSVRPEN | FELVKKFISQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IVDTLDVSDK | LAQVGLVQYS | SSVRQEFPLG | RFHTKKDIKA | AVRNMSYMEK | GTMTGAALKY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LIDNSFTVSS | GARPGAQKVG | IVFTDGRSQD | YINDAAKKAK | DLGFKMFAVG | VGNAVEDELR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EIASEPVAEH | YFYTADFKTI | NQIGKKLQKK | ICVEEDPCAC | ESLVKFQAKV | EGLLQALTRK |
| 490 | |||||
| LEAVSKRLAI | LENTVV |