Q96RR4
Gene name |
CAMKK2 (CAMKKB, KIAA0787) |
Protein name |
Calcium/calmodulin-dependent protein kinase kinase 2 |
Names |
CaM-KK 2, CaM-kinase kinase 2, CaMKK 2, Calcium/calmodulin-dependent protein kinase kinase beta, CaM-KK beta, CaM-kinase kinase beta, CaMKK beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10645 |
EC number |
2.7.11.17: Protein-serine/threonine kinases |
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
329-352 (Activation loop from InterPro)
Target domain |
165-446 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

25 structures for Q96RR4
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2ZV2 | X-ray | 240 A | A | 158-448 | PDB |
5UY6 | X-ray | 170 A | A | 161-449 | PDB |
5UYJ | X-ray | 160 A | A | 161-449 | PDB |
5VT1 | X-ray | 190 A | A | 161-449 | PDB |
5YV8 | X-ray | 193 A | A | 158-448 | PDB |
5YV9 | X-ray | 253 A | A | 158-448 | PDB |
5YVA | X-ray | 257 A | A | 158-448 | PDB |
5YVB | X-ray | 202 A | A | 158-448 | PDB |
5YVC | X-ray | 202 A | A | 158-448 | PDB |
6BKU | X-ray | 200 A | A | 162-449 | PDB |
6BLE | X-ray | 190 A | A | 161-449 | PDB |
6BQL | X-ray | 200 A | A | 161-449 | PDB |
6BQP | X-ray | 195 A | A | 161-449 | PDB |
6BQQ | X-ray | 180 A | A | 161-449 | PDB |
6BRC | X-ray | 220 A | A/B | 161-449 | PDB |
6CMJ | X-ray | 240 A | A/B | 149-465 | PDB |
6EF5 | X-ray | 244 A | Q/S | 508-514 | PDB |
6EWW | X-ray | 268 A | E/F/G/H | 97-104 | PDB |
6FEL | X-ray | 284 A | E/F/G/H | 508-515 | PDB |
6Y3O | X-ray | 150 A | P | 97-104 | PDB |
6Y4K | X-ray | 300 A | E/F | 97-104 | PDB |
6Y6B | X-ray | 308 A | C/D | 97-104 | PDB |
6Y8A | X-ray | 150 A | P | 508-515 | PDB |
8TUC | X-ray | 150 A | A | 161-449 | PDB |
AF-Q96RR4-F1 | Predicted | AlphaFoldDB |
462 variants for Q96RR4
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1328220999 CA386946986 |
2 | S>L | No |
ClinGen gnomAD |
|
CA386946959 rs1303678199 |
4 | C>R | No |
ClinGen gnomAD |
|
CA244555044 rs536363342 |
9 | P>S | No |
ClinGen 1000Genomes |
|
VAR_032788 rs28360477 CA6834970 |
10 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781250016 CA6834969 |
10 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834971 rs145827495 |
10 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6834968 rs747254221 |
13 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834966 rs550638648 |
13 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6834967 rs747254221 |
13 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758658098 CA6834965 |
14 | A>T | No |
ClinGen ExAC gnomAD |
|
rs867881072 CA244554983 |
14 | A>V | No |
ClinGen Ensembl |
|
COSM1188629 CA6834963 COSM1188628 rs779276966 |
15 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1244767346 CA386946758 |
15 | A>V | No |
ClinGen TOPMed |
|
rs757852554 CA6834961 |
16 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA386946755 rs757852554 |
16 | P>T | No |
ClinGen ExAC gnomAD |
|
CA6834958 rs747697513 |
17 | Q>P | No |
ClinGen ExAC TOPMed |
|
rs747697513 CA6834957 |
17 | Q>R | No |
ClinGen ExAC TOPMed |
|
CA386946712 rs1279204211 |
18 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA386946714 rs1279204211 |
18 | D>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 20 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6834954 rs199883814 |
22 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834952 rs201000982 |
23 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6834949 rs776642531 |
25 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768699149 CA6834948 |
26 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1156431686 CA386946552 |
26 | S>I | No |
ClinGen gnomAD |
|
CA386946548 rs1478831102 |
27 | S>G | No |
ClinGen gnomAD |
|
CA6834947 rs747129806 |
27 | S>N | No |
ClinGen ExAC gnomAD |
|
CA386946499 rs1566109307 |
29 | E>G | No |
ClinGen Ensembl |
|
CA244554885 rs201539661 |
29 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
rs200615415 CA244554858 |
30 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA244554882 rs200615415 |
30 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA386946468 rs1395733290 |
30 | S>R | No |
ClinGen TOPMed |
|
rs772398441 CA6834945 |
31 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA6834943 rs528343390 |
33 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1447927152 CA386946416 |
33 | P>S | No |
ClinGen gnomAD |
|
rs757803183 CA6834942 |
34 | C>R | No |
ClinGen ExAC gnomAD |
|
CA6834941 rs560937960 |
34 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA386946382 rs1360059984 |
35 | E>K | No |
ClinGen gnomAD |
|
rs778476145 CA6834940 |
36 | A>V | No |
ClinGen ExAC gnomAD |
|
rs575267981 CA6834938 |
38 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6834939 rs140975842 |
38 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765887717 CA6834937 |
39 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1325611722 CA386946283 |
41 | S>L | No |
ClinGen gnomAD |
|
CA6834936 rs146298458 |
44 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
CA6834934 rs765037782 |
48 | G>A | No |
ClinGen ExAC gnomAD |
|
COSM936009 CA244554814 COSM1152478 rs199792967 |
49 | M>V | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA244554813 rs771744764 |
51 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs761645109 CA6834933 |
53 | I>T | No |
ClinGen ExAC gnomAD |
|
CA6834932 rs776517605 |
55 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834931 rs201430481 |
57 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6834929 rs775654283 |
58 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462791558 CA386945868 |
59 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA6834928 rs141381524 |
60 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA244554752 rs202061927 |
61 | G>D | No |
ClinGen TOPMed |
|
CA386945827 rs202061927 |
61 | G>V | No |
ClinGen TOPMed |
|
CA244554743 rs1019995309 |
62 | C>S | No |
ClinGen gnomAD |
|
CA6834926 rs200031197 |
63 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA386945766 rs1215069614 |
65 | D>A | No |
ClinGen gnomAD |
|
CA6834924 rs201270246 |
65 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386945765 rs1215069614 |
65 | D>G | No |
ClinGen gnomAD |
|
CA6834925 rs771403751 |
65 | D>H | No |
ClinGen ExAC gnomAD |
|
rs746435585 CA6834921 COSM1359449 COSM1359448 |
67 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs202102327 CA6834920 |
69 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834917 rs199801387 |
70 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201146989 CA6834918 |
70 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA386945646 rs1593431765 |
71 | D>A | No |
ClinGen Ensembl |
|
CA6834915 rs201878323 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374616967 CA6834916 |
72 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA386945608 rs1419461541 |
73 | P>S | No |
ClinGen gnomAD |
|
CA6834912 rs775392999 |
77 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA244554659 rs750476683 |
81 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs767661175 CA6834911 |
82 | P>L | No |
ClinGen ExAC gnomAD |
|
rs759588177 CA6834910 |
84 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1248158748 CA386945481 |
85 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs3817190 CA386945485 |
85 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6834908 VAR_020532 rs3817190 |
85 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA386945467 rs1593431259 |
86 | S>F | No |
ClinGen Ensembl |
|
rs1314165045 CA386945475 |
86 | S>P | No |
ClinGen gnomAD |
|
COSM1578920 COSM1578919 rs200654946 CA6834906 |
87 | G>R | meninges [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA6834905 rs770155843 |
87 | G>V | No |
ClinGen ExAC |
|
rs745434921 CA6834901 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834902 rs200162363 |
91 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756917855 CA6834899 |
93 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1566107499 CA386945366 |
94 | L>F | No |
ClinGen Ensembl |
|
rs374592351 CA6834898 |
95 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA386945347 rs1249796508 |
96 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA6834896 rs200801054 COSM430532 COSM1476247 |
97 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA6834895 rs199530456 |
97 | R>H | Variant assessed as Somatic; 4.838e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA6834894 rs199530456 |
97 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA244554591 rs948517475 |
99 | L>V | No |
ClinGen Ensembl |
|
CA386945290 rs1229531741 |
101 | L>P | No |
ClinGen TOPMed |
|
CA386945269 rs1307277623 |
104 | R>L | No |
ClinGen gnomAD |
|
CA386945270 rs1307277623 |
104 | R>Q | No |
ClinGen gnomAD |
|
CA6834891 rs200809684 |
104 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763294715 CA6834890 |
107 | G>C | No |
ClinGen ExAC gnomAD |
|
CA6834889 rs773659763 |
108 | G>R | No |
ClinGen ExAC gnomAD |
|
CA244554572 rs1054122378 |
109 | L>P | No |
ClinGen gnomAD |
|
CA6834888 rs770170374 |
110 | A>G | No |
ClinGen ExAC gnomAD |
|
rs201551966 CA6834886 |
112 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386945201 rs1456729602 |
113 | G>D | No |
ClinGen gnomAD |
|
CA244554545 rs374425048 |
115 | L>P | No |
ClinGen gnomAD |
|
CA6834885 rs374969030 |
116 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1409825228 CA386945167 |
117 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs115336463 CA244554527 |
118 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6834883 rs202226737 |
119 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201478248 CA6834881 |
120 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA244554518 rs966324914 |
120 | R>H | No |
ClinGen Ensembl |
|
CA386945088 rs35403710 |
123 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs35403710 CA6834880 VAR_040610 |
123 | C>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199839826 CA6834879 |
124 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386945067 rs1264419857 |
125 | S>Y | No |
ClinGen gnomAD |
|
VAR_040611 | 127 | P>L | a lung neuroendocrine carcinoma sample; somatic mutation [UniProt] | No | UniProt |
CA386945037 rs1283194877 |
128 | Y>* | No |
ClinGen gnomAD |
|
CA386945025 rs1385659023 |
129 | S>L | No |
ClinGen gnomAD |
|
rs1459116696 CA386945019 |
130 | P>H | No |
ClinGen TOPMed |
|
rs1459116696 CA386945016 |
130 | P>L | No |
ClinGen TOPMed |
|
CA386945023 rs1364485817 |
130 | P>S | No |
ClinGen gnomAD |
|
rs766586427 CA6834874 |
131 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs763171097 CA6834873 |
132 | S>I | No |
ClinGen ExAC gnomAD |
|
CA386945005 rs1386765465 |
132 | S>R | No |
ClinGen gnomAD |
|
rs765441955 CA6834871 |
134 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 134 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386944967 rs1430275816 |
135 | Q>* | No |
ClinGen gnomAD |
|
CA386944971 rs1430275816 |
135 | Q>K | No |
ClinGen gnomAD |
|
rs201145728 CA6834868 |
137 | S>L | No |
ClinGen ExAC gnomAD |
|
CA244554430 rs1003140498 |
137 | S>P | No |
ClinGen Ensembl |
|
CA244554422 rs199839786 |
138 | P>S | No |
ClinGen gnomAD |
|
rs1203974346 CA386944928 |
139 | R>Q | No |
ClinGen gnomAD |
|
CA6834866 rs202048546 |
139 | R>W | Variant assessed as Somatic; 5.878e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6834865 rs770406690 |
141 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1323793521 CA386944914 |
141 | P>S | No |
ClinGen TOPMed |
|
rs777479538 CA6834863 |
142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834864 rs201263450 |
142 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs775765201 CA6834861 |
143 | R>Q | No |
ClinGen ExAC TOPMed |
|
rs35798271 CA386944897 |
143 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6834859 rs201753522 |
144 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 148 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780177185 CA6834856 |
150 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA6834854 rs201742753 |
151 | V>I | No |
ClinGen ExAC gnomAD |
|
CA6834853 rs184189303 |
152 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA386944756 rs1566106026 |
154 | T>A | No |
ClinGen Ensembl |
|
CA6834851 rs377581818 |
154 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6834852 rs377581818 |
154 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386944728 rs1253406385 |
156 | M>I | No |
ClinGen gnomAD |
|
CA386944739 rs1460637963 |
156 | M>V | No |
ClinGen gnomAD |
|
rs200404512 CA244552453 |
158 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA386944085 COSM3416554 COSM3416555 rs1407871256 |
159 | C>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA6834838 rs758423314 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1159931088 CA386943854 |
170 | E>A | No |
ClinGen gnomAD |
|
CA386943863 rs1593411562 |
170 | E>K | No |
ClinGen Ensembl |
|
rs757452308 CA6834835 |
171 | I>T | No |
ClinGen ExAC gnomAD |
|
CA6834823 rs768480475 |
174 | G>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 176 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA244551599 COSM1199475 rs935552545 COSM1199474 |
179 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1566095148 CA386943292 |
180 | K>Q | No |
ClinGen Ensembl |
|
rs1207121718 COSM20494 VAR_040612 CA386943255 |
182 | A>T | large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
CA6834822 rs746740827 |
183 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs765340589 CA244551558 |
184 | N>D | No |
ClinGen Ensembl |
|
rs1593404609 CA386943121 |
189 | T>I | No |
ClinGen Ensembl |
|
rs775428439 CA6834821 |
190 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763773184 CA6834805 |
192 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 192 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386942937 rs1297142890 |
193 | M>T | No |
ClinGen TOPMed |
|
CA386942901 rs1305210574 |
195 | V>A | No |
ClinGen TOPMed |
|
CA6834804 rs760434064 |
195 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 199 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs199874688 CA244551050 |
200 | K>T | No |
ClinGen Ensembl |
|
rs1430991729 CA386942808 |
203 | R>Q | No |
ClinGen gnomAD |
|
CA6834802 rs771971632 |
203 | R>W | No |
ClinGen ExAC gnomAD |
|
rs759417993 CA6834801 |
205 | A>S | No |
ClinGen ExAC gnomAD |
|
CA244551044 rs1030343452 |
206 | G>A | No |
ClinGen TOPMed |
|
rs200886794 CA6834799 |
209 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs762984197 CA6834781 COSM3416552 COSM3416553 |
210 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs773178395 CA6834780 |
210 | R>H | Variant assessed as Somatic; 4.792e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1490451948 CA386941695 |
212 | P>L | No |
ClinGen gnomAD |
|
rs748291040 CA6834778 |
214 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1593374277 CA386941659 |
216 | T>A | No |
ClinGen Ensembl |
|
CA6834777 rs781377596 |
216 | T>I | No |
ClinGen ExAC gnomAD |
|
CA386941651 rs1284296009 |
217 | R>W | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 218 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200150673 CA386941595 |
222 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs200150673 CA244548837 |
222 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA6834775 rs747269519 |
223 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs780498713 CA6834774 |
227 | R>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 227 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779603792 CA6834771 |
230 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 234 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1586235 rs1159933592 COSM936007 CA386941389 |
236 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA6834770 rs755682639 |
237 | I>N | No |
ClinGen ExAC gnomAD |
|
CA244548803 rs374169294 |
244 | D>G | No |
ClinGen ESP gnomAD |
|
CA244548780 rs771674497 |
246 | P>S | No |
ClinGen TOPMed |
|
rs767021876 CA244548775 |
247 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767021876 CA6834768 |
247 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200059037 CA244548771 |
249 | V>M | No |
ClinGen Ensembl |
|
rs1170585723 CA386941087 |
253 | E>D | No |
ClinGen TOPMed |
|
rs1367292658 CA386970697 |
259 | N>S | No |
ClinGen gnomAD |
|
CA386970659 rs1366156021 |
262 | H>R | No |
ClinGen gnomAD |
|
CA6834725 rs753777675 |
262 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1473818454 CA386970624 |
265 | M>T | No |
ClinGen gnomAD |
|
rs951504520 CA244597509 |
265 | M>V | No |
ClinGen gnomAD |
|
CA6834703 rs777698092 |
266 | V>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 267 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386969930 rs1399397707 |
271 | N>D | No |
ClinGen gnomAD |
|
rs759727042 CA386969926 |
271 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751804866 CA6834698 |
271 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759727042 CA6834699 |
271 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386969922 rs1161270986 |
272 | Q>* | No |
ClinGen TOPMed |
|
CA386969883 rs1283117666 |
274 | P>S | No |
ClinGen gnomAD |
|
rs1354124033 COSM1586236 COSM936006 CA386969873 |
275 | V>M | Variant assessed as Somatic; 4.646e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs371428001 CA244593714 |
276 | M>T | No |
ClinGen Ensembl |
|
CA6834673 rs202190716 |
278 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA244593712 rs1016081976 |
278 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1370401604 CA386969827 |
279 | P>S | No |
ClinGen gnomAD |
|
rs1407341397 CA386969816 |
280 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1407341397 CA386969818 |
280 | T>N | No |
ClinGen gnomAD |
|
CA386969821 rs1593329133 |
280 | T>P | No |
ClinGen Ensembl |
|
CA6834669 rs144335101 |
285 | S>P | No |
ClinGen ESP ExAC |
|
CA6834667 rs748010012 |
286 | E>K | No |
ClinGen ExAC gnomAD |
|
CA244593673 rs752145128 |
289 | A>G | No |
ClinGen ExAC gnomAD |
|
rs752145128 CA6834666 |
289 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6834665 rs754983449 |
290 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834664 rs747039247 |
290 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1223251103 CA386969696 |
291 | F>L | No |
ClinGen gnomAD |
|
CA244593657 rs200803906 |
293 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1593328807 CA386969666 |
294 | Q>K | No |
ClinGen Ensembl |
|
CA386969659 rs1256087090 |
294 | Q>R | No |
ClinGen TOPMed |
|
CA386969642 rs1483990259 |
295 | D>V | No |
ClinGen TOPMed |
|
CA6834662 rs758547025 |
296 | L>V | No |
ClinGen ExAC gnomAD |
|
CA386969623 rs139606987 |
297 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765553865 CA6834660 |
299 | G>A | No |
ClinGen ExAC gnomAD |
|
CA386969576 rs1411013049 |
301 | E>D | No |
ClinGen gnomAD |
|
rs1262075225 CA386969579 |
301 | E>G | No |
ClinGen gnomAD |
|
CA6834635 rs192796956 |
307 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA386968739 rs1566054000 |
308 | I>F | No |
ClinGen Ensembl |
|
rs1566054000 CA386968740 |
308 | I>V | No |
ClinGen Ensembl |
|
CA6834634 rs749966784 |
310 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1307905721 CA386968684 |
311 | R>C | No |
ClinGen TOPMed |
|
CA244592254 rs199889163 |
311 | R>H | No |
ClinGen Ensembl |
|
CA386968652 rs1367628829 |
313 | I>V | No |
ClinGen gnomAD |
|
CA6834633 rs764751426 |
317 | N>S | No |
ClinGen ExAC gnomAD |
|
CA386968549 rs1566053853 |
318 | L>I | No |
ClinGen Ensembl |
|
rs1309944455 CA386968534 |
319 | L>V | No |
ClinGen TOPMed |
|
CA386968502 rs1466529785 |
321 | G>R | No |
ClinGen gnomAD |
|
rs1566053769 CA386968484 |
322 | E>Q | No |
ClinGen Ensembl |
|
rs1358308493 CA386968446 |
323 | D>E | No |
ClinGen gnomAD |
|
rs149343557 CA244592222 |
328 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6834630 rs768551666 |
329 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1586237 COSM936005 CA386968346 rs768551666 |
329 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA6834628 rs775286615 |
335 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834626 rs567964739 |
338 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 338 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386968209 rs1184060674 |
339 | G>D | No |
ClinGen gnomAD |
|
CA6834625 rs779072460 |
340 | S>N | No |
ClinGen ExAC |
|
CA6834623 rs749479203 |
342 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6834622 rs778015051 |
342 | A>V | No |
ClinGen ExAC gnomAD |
|
CA386968144 rs1441968844 |
345 | S>F | No |
ClinGen TOPMed |
|
rs749863437 CA6834617 |
346 | N>K | No |
ClinGen ExAC gnomAD |
|
CA386968133 rs1194134776 |
346 | N>S | No |
ClinGen TOPMed |
|
CA386968124 rs1593311136 |
347 | T>P | No |
ClinGen Ensembl |
|
rs149707360 CA6834615 |
348 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs149707360 CA6834616 |
348 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1396496439 COSM328679 CA386968101 |
350 | T>M | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA386968106 rs1593311063 |
350 | T>P | No |
ClinGen Ensembl |
|
CA6834613 rs763906764 |
352 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA386968051 rs1167545698 |
355 | A>V | No |
ClinGen gnomAD |
|
CA6834611 rs775368084 |
357 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771856117 CA6834610 |
358 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386967994 rs1303873351 |
361 | E>A | No |
ClinGen TOPMed |
|
TCGA novel | 361 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6834607 rs202103661 |
361 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6834606 rs150578614 |
362 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA386967989 rs1174774660 |
362 | T>S | No |
ClinGen Ensembl |
|
rs1132780 CA6834605 VAR_020533 |
363 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770005277 CA6834604 |
363 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs770005277 CA386967976 |
363 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748416243 CA6834603 |
364 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386967971 rs748416243 |
364 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755340866 CA6834601 |
365 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1291358851 CA386967951 |
366 | F>Y | No |
ClinGen gnomAD |
|
rs780765704 CA6834599 |
367 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA244591648 rs201880301 |
375 | A>T | No |
ClinGen Ensembl |
|
CA386967803 rs1379774278 |
376 | M>V | No |
ClinGen gnomAD |
|
CA386967719 rs1465444503 |
386 | G>D | No |
ClinGen gnomAD |
|
rs769333324 CA6834561 |
389 | P>L | No |
ClinGen ExAC gnomAD |
|
rs779609974 CA6834562 |
389 | P>T | No |
ClinGen ExAC |
|
CA386967167 rs1267930874 |
391 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA6834559 rs780828018 |
393 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834557 rs200976364 |
394 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754596011 CA6834558 |
394 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1205871215 CA386967131 |
396 | M>K | No |
ClinGen gnomAD |
|
rs1419365528 CA386967134 |
396 | M>V | No |
ClinGen TOPMed |
|
rs1170183544 CA386967104 |
399 | H>Q | No |
ClinGen Ensembl |
|
CA6834556 rs540716908 |
400 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6834555 rs540716908 |
400 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA386967094 rs1170690274 |
401 | K>E | No |
ClinGen gnomAD |
|
CA386967071 rs1418849004 |
404 | S>G | No |
ClinGen gnomAD |
|
CA244589749 rs983855142 |
407 | L>V | No |
ClinGen gnomAD |
|
CA386967038 rs1593294299 |
409 | F>I | No |
ClinGen Ensembl |
|
CA6834554 rs750349984 |
409 | F>L | No |
ClinGen ExAC gnomAD |
|
CA386967022 rs1593294236 |
411 | D>A | No |
ClinGen Ensembl |
|
rs765156471 CA6834553 |
411 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834552 rs147402468 |
412 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142766604 CA6834524 |
414 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6834523 rs746592299 |
415 | I>T | No |
ClinGen ExAC gnomAD |
|
CA6834522 rs138706708 |
418 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1459757320 CA386966952 |
419 | L>M | No |
ClinGen gnomAD |
|
rs1159826368 CA386966924 |
421 | D>E | No |
ClinGen gnomAD |
|
rs200160633 CA6834520 |
424 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778606038 CA6834519 |
425 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201318802 CA6834518 |
425 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs777824731 CA6834516 |
426 | M>I | No |
ClinGen ExAC gnomAD |
|
CA386966876 rs1457107356 |
426 | M>L | No |
ClinGen TOPMed |
|
rs199903262 CA244589514 |
430 | N>K | No |
ClinGen Ensembl |
|
rs756258369 CA6834515 |
430 | N>Y | No |
ClinGen ExAC |
|
CA386966806 rs1465910940 |
431 | P>A | No |
ClinGen gnomAD |
|
CA386966807 rs1465910940 |
431 | P>T | No |
ClinGen gnomAD |
|
CA6834513 rs143035233 |
432 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6834512 rs755271634 |
433 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA244589420 rs866315012 |
433 | S>V | No |
ClinGen Ensembl |
|
CA6834511 rs751909766 |
435 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6834509 rs199783878 |
436 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201551718 CA6834507 |
438 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201551718 CA244589374 |
438 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1465364364 CA386966709 |
440 | I>V | No |
ClinGen TOPMed |
|
rs929612914 CA244589348 |
441 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs377572588 CA6834480 |
442 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
rs199837469 CA6834478 |
443 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386966618 rs199837469 |
443 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762593990 CA6834479 |
443 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834477 rs202232880 |
444 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1219582970 CA386966594 |
445 | W>C | No |
ClinGen TOPMed |
|
rs201016179 CA244588421 |
446 | V>I | No |
ClinGen Ensembl |
|
rs1251900123 CA386966567 |
448 | R>K | No |
ClinGen gnomAD |
|
CA6834475 rs781339939 |
449 | H>R | No |
ClinGen ExAC gnomAD |
|
CA386966532 rs1209363170 |
451 | A>T | No |
ClinGen TOPMed |
|
CA6834474 rs768616526 |
451 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs200053670 CA244588396 |
453 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834472 rs200053670 |
453 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565357862 CA6834473 COSM227101 |
453 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA6834469 rs546491056 |
455 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6834467 rs567776497 |
456 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 457 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386966453 rs1167669086 |
458 | D>H | No |
ClinGen gnomAD |
|
CA386966439 rs1427750562 |
459 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA386966418 rs1475836092 |
460 | N>K | No |
ClinGen gnomAD |
|
rs751093762 CA6834464 |
461 | C>S | No |
ClinGen ExAC gnomAD |
|
CA6834463 rs200503109 |
462 | T>M | No |
ClinGen ExAC gnomAD |
|
CA244588362 rs1009556571 |
462 | T>P | No |
ClinGen Ensembl |
|
CA386966395 rs200503109 |
462 | T>R | No |
ClinGen ExAC gnomAD |
|
rs769686708 CA6834460 |
470 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386966251 rs1421000257 |
472 | E>* | No |
ClinGen TOPMed |
|
CA386966132 rs1275152562 |
478 | I>V | No |
ClinGen gnomAD |
|
rs776647930 CA6834458 |
480 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6834456 rs747012116 |
484 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764988160 CA6834441 |
487 | V>L | No |
ClinGen ExAC gnomAD |
|
rs764988160 CA386964456 |
487 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1451826262 CA386964345 COSM202432 |
492 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs34129994 CA6834440 VAR_040613 |
492 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369888217 CA6834439 |
494 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6834438 rs763899089 |
494 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA244581982 rs113036883 |
496 | F>C | No |
ClinGen Ensembl |
|
CA386964155 rs1251240622 |
497 | G>E | No |
ClinGen gnomAD |
|
TCGA novel | 498 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1447513942 CA386964117 |
499 | P>S | No |
ClinGen gnomAD |
|
rs114204054 CA386964056 |
500 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1349865642 CA386964011 |
502 | G>S | No |
ClinGen gnomAD |
|
TCGA novel | 502 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs56277702 CA244581968 |
503 | S>R | No |
ClinGen TOPMed |
|
rs371330172 CA6834434 |
504 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs536416352 CA6834435 |
504 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs778228293 CA6834430 |
505 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA6834431 rs199796954 |
505 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1327544155 CA386963912 |
506 | E>K | No |
ClinGen gnomAD |
|
CA6834429 rs756471943 |
506 | E>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 507 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1377699388 CA386963898 |
507 | E>Q | No |
ClinGen gnomAD |
|
rs201470961 CA6834428 |
508 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs568977744 CA6834427 |
508 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA386963829 rs1475813808 |
510 | L>P | No |
ClinGen gnomAD |
|
CA6834425 rs757917913 |
512 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs544274688 CA244581900 |
517 | L>V | No |
ClinGen Ensembl |
|
CA6834422 rs150968495 |
518 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs867021883 CA244581430 |
523 | R>M | No |
ClinGen Ensembl |
|
rs201257798 CA6834405 |
524 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834404 rs753516280 |
525 | C>W | No |
ClinGen ExAC gnomAD |
|
CA244581416 rs200127209 |
525 | C>Y | No |
ClinGen gnomAD |
|
CA6834403 rs777356978 |
526 | E>G | No |
ClinGen ExAC gnomAD |
|
CA6834401 rs752446616 |
529 | S>P | No |
ClinGen ExAC gnomAD |
|
rs1213672301 CA386963348 |
530 | E>A | No |
ClinGen gnomAD |
|
rs767392357 CA6834400 |
531 | L>F | No |
ClinGen ExAC gnomAD |
|
rs754760801 CA6834361 |
535 | R>G | No |
ClinGen ExAC gnomAD |
|
CA6834360 rs746809158 |
537 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA244577630 rs766855208 |
537 | R>L | No |
ClinGen ExAC gnomAD |
|
CA6834359 rs766855208 |
537 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1477782377 CA386961950 |
540 | P>A | No |
ClinGen gnomAD |
|
rs758302519 CA6834358 |
540 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA244577595 rs1038964813 |
541 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs1198997575 CA386961901 |
542 | G>R | No |
ClinGen gnomAD |
|
rs1481629572 CA386961839 |
543 | H>Q | No |
ClinGen gnomAD |
|
CA6834356 rs765213855 |
544 | R>* | No |
ClinGen ExAC gnomAD |
|
CA6834357 rs765213855 |
544 | R>G | No |
ClinGen ExAC gnomAD |
|
rs754109860 CA6834354 |
545 | P>R | No |
ClinGen ExAC gnomAD |
|
rs764417771 CA6834353 |
546 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1310112012 CA386961758 |
547 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6834350 rs377581001 |
548 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774966869 CA386961726 |
548 | R>H | No |
ClinGen ExAC gnomAD |
|
rs774966869 CA6834348 |
548 | R>L | No |
ClinGen ExAC gnomAD |
|
rs774981105 | 548 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs377581001 CA6834349 |
548 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1051450715 CA386961711 |
549 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1051450715 CA244577466 |
549 | G>W | No |
ClinGen TOPMed gnomAD |
|
rs1462274102 CA386961670 |
550 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs1462274102 CA386961652 |
550 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs776196438 CA6834344 |
557 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1326533211 CA386961347 |
559 | S>I | No |
ClinGen TOPMed gnomAD |
|
rs1251265448 CA386961322 |
560 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA386961338 rs1421110149 |
560 | P>T | No |
ClinGen gnomAD |
|
rs1254786622 CA386961286 |
561 | C>* | No |
ClinGen TOPMed gnomAD |
|
rs1218687088 CA386961273 |
562 | V>L | No |
ClinGen TOPMed |
|
rs1593246123 CA386961150 |
564 | S>I | No |
ClinGen Ensembl |
|
CA6834340 rs758266407 |
564 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386961098 rs1484898087 |
565 | C>W | No |
ClinGen TOPMed |
|
CA6834339 rs144382983 |
567 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201361901 CA244577406 |
568 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs757219573 CA6834337 |
568 | P>L | No |
ClinGen ExAC gnomAD |
|
rs201361901 CA6834338 |
568 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6834332 rs753007936 |
569 | A>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 569 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs140624198 CA6834335 |
569 | A>T | No |
ClinGen ESP ExAC |
|
rs753007936 CA6834333 |
569 | A>V | No |
ClinGen ExAC gnomAD |
|
CA244577362 rs866150487 |
571 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs200750895 CA6834329 |
571 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs866150487 CA386960970 |
571 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA386960961 rs766910933 |
572 | S>C | No |
ClinGen ExAC gnomAD |
|
CA6834328 rs766910933 |
572 | S>F | No |
ClinGen ExAC gnomAD |
|
rs776152407 CA6834326 |
573 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 573 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA386960937 rs1437886558 |
574 | A>S | No |
ClinGen gnomAD |
|
CA386960941 rs1437886558 |
574 | A>T | No |
ClinGen gnomAD |
|
CA386960912 rs775271665 |
575 | R>C | No |
ClinGen ExAC gnomAD |
|
CA386960897 rs1194145163 |
575 | R>P | No |
ClinGen gnomAD |
|
CA6834323 rs775271665 |
575 | R>S | No |
ClinGen ExAC gnomAD |
|
CA244577254 rs868609766 |
576 | M>L | No |
ClinGen Ensembl |
|
CA6834321 rs200101277 |
577 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA6834320 rs202003410 |
578 | P>A | No |
ClinGen ExAC gnomAD |
|
CA386960801 rs1486093264 |
578 | P>L | No |
ClinGen gnomAD |
|
CA386960805 rs202003410 |
578 | P>S | No |
ClinGen ExAC gnomAD |
|
rs749337315 CA6834318 |
579 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1234530777 CA386960772 |
580 | R>Q | No |
ClinGen gnomAD |
|
rs562414798 CA6834316 |
580 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs752954809 CA6834315 |
581 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386960741 rs752954809 |
581 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA386960751 rs1384713240 |
581 | P>S | No |
ClinGen TOPMed |
|
rs1566024305 CA386960726 |
582 | E>Q | No |
ClinGen Ensembl |
|
rs1242058071 CA386960666 |
584 | A>T | No |
ClinGen TOPMed |
|
RCV001091862 rs1888199098 |
585 | M>missing | No |
ClinVar dbSNP |
|
rs201638594 CA6834312 |
585 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6834308 rs763580915 |
586 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6834309 rs750978029 |
586 | E>G | No |
ClinGen ExAC gnomAD |
|
CA6834311 rs766757308 |
586 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs750978029 CA6834310 |
586 | E>V | No |
ClinGen ExAC gnomAD |
|
rs917895094 CA244577131 |
588 | E>K | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q96RR4
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.17 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
7 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calcium ion binding | Binding to a calcium ion (Ca2+). |
calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
calmodulin-dependent protein kinase activity | Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
12 GO annotations of biological process
Name | Definition |
---|---|
activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
CAMKK-AMPK signaling cascade | The series of molecular signals in which calmodulin-dependent protein kinase activity enabled by a CAMKK directly activates an AMPK. The cascade begins with calmodulin binding calcium which in turn binds CAMKK enabling its calmodulin-dependent protein kinase activity. The cascade ends with AMP-activated protein kinase activity. |
cellular response to reactive oxygen species | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals. |
MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
positive regulation of autophagy of mitochondrion | Any process that activates or increases the frequency, rate or extent of mitochondrion degradation by autophagy. |
positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of protein kinase activity | Any process that modulates the frequency, rate or extent of protein kinase activity. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
12 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q8N5S9 | CAMKK1 | Calcium/calmodulin-dependent protein kinase kinase 1 | Homo sapiens (Human) | SS |
Q15831 | STK11 | Serine/threonine-protein kinase STK11 | Homo sapiens (Human) | PR |
Q8VBY2 | Camkk1 | Calcium/calmodulin-dependent protein kinase kinase 1 | Mus musculus (Mouse) | PR |
Q8C078 | Camkk2 | Calcium/calmodulin-dependent protein kinase kinase 2 | Mus musculus (Mouse) | PR |
Q5JLQ9 | CIPK30 | CBL-interacting protein kinase 30 | Oryza sativa subsp japonica (Rice) | PR |
Q5QNM6 | CIPK13 | Putative CBL-interacting protein kinase 13 | Oryza sativa subsp japonica (Rice) | PR |
Q6ERS4 | CIPK16 | CBL-interacting protein kinase 16 | Oryza sativa subsp japonica (Rice) | PR |
Q852Q0 | OSK3 | Serine/threonine protein kinase OSK3 | Oryza sativa subsp. japonica (Rice) | SS |
O65554 | CIPK6 | CBL-interacting serine/threonine-protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FJ54 | CIPK20 | CBL-interacting serine/threonine-protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O22971 | CIPK13 | CBL-interacting serine/threonine-protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q2V452 | CIPK3 | CBL-interacting serine/threonine-protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MSSCVSSQPS | SNRAAPQDEL | GGRGSSSSES | QKPCEALRGL | SSLSIHLGME | SFIVVTECEP |
70 | 80 | 90 | 100 | 110 | 120 |
GCAVDLGLAR | DRPLEADGQE | VPLDTSGSQA | RPHLSGRKLS | LQERSQGGLA | AGGSLDMNGR |
130 | 140 | 150 | 160 | 170 | 180 |
CICPSLPYSP | VSSPQSSPRL | PRRPTVESHH | VSITGMQDCV | QLNQYTLKDE | IGKGSYGVVK |
190 | 200 | 210 | 220 | 230 | 240 |
LAYNENDNTY | YAMKVLSKKK | LIRQAGFPRR | PPPRGTRPAP | GGCIQPRGPI | EQVYQEIAIL |
250 | 260 | 270 | 280 | 290 | 300 |
KKLDHPNVVK | LVEVLDDPNE | DHLYMVFELV | NQGPVMEVPT | LKPLSEDQAR | FYFQDLIKGI |
310 | 320 | 330 | 340 | 350 | 360 |
EYLHYQKIIH | RDIKPSNLLV | GEDGHIKIAD | FGVSNEFKGS | DALLSNTVGT | PAFMAPESLS |
370 | 380 | 390 | 400 | 410 | 420 |
ETRKIFSGKA | LDVWAMGVTL | YCFVFGQCPF | MDERIMCLHS | KIKSQALEFP | DQPDIAEDLK |
430 | 440 | 450 | 460 | 470 | 480 |
DLITRMLDKN | PESRIVVPEI | KLHPWVTRHG | AEPLPSEDEN | CTLVEVTEEE | VENSVKHIPS |
490 | 500 | 510 | 520 | 530 | 540 |
LATVILVKTM | IRKRSFGNPF | EGSRREERSL | SAPGNLLTKK | PTRECESLSE | LKEARQRRQP |
550 | 560 | 570 | 580 | ||
PGHRPAPRGG | GGSALVRGSP | CVESCWAPAP | GSPARMHPLR | PEEAMEPE |