Descriptions

The p21-activated protein kinases5 (PAK5) belongs to group II PAK family and is involved in actin cytoskeleton regulation, cell growth, migration and survival, and so on. Group II PAKs (PAK4, 5, and 6) harbor well-conserved pseudosubstrate sequences. For PAK4, the N-terminal inhibitory segment contains two pseudopeptide sequences (FTGLPR at 32th and RPKPLV at 49th) that bind to the active site of the kinase domain as a pseudosubstrate. Like PAK4, PAK6 catalytic activity is inhibited by a peptide corresponding to its N-terminal pseudosubstrate (RRPKPVVDP at 49th).
PAKs are activated by the binding of GTP-loaded Cdc42 (or Rac) to the CRIB domain, which disrupts the dimer and unfolds autoinhibitory region. After releasing autoinhibitory region, kinase domain is then autophosphorylated for full activation.

Autoinhibitory domains (AIDs)

Target domain

407-658 (Protein kinase domain)

Relief mechanism

Partner binding

Assay

Peptide inhibitor test, Structural analysis

Accessory elements

543-566 (Activation loop from InterPro)

Target domain

385-681 (Catalytic domain of the Serine/Threonine Kinase, p21-activated kinase 6)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

7 structures for Q9NQU5

Entry ID Method Resolution Chain Position Source
2C30 X-ray 160 A A 383-681 PDB
2ODB X-ray 240 A B 11-45 PDB
4KS7 X-ray 140 A A 385-674 PDB
4KS8 X-ray 195 A A 385-674 PDB
6QDR X-ray 161 A B 94-104 PDB
6QDS X-ray 172 A B 94-104 PDB
AF-Q9NQU5-F1 Predicted AlphaFoldDB

627 variants for Q9NQU5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA391703662
RCV000678673
rs1407997977
619 P>T Keratoconus [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1370253658
CA391696783
3 R>C No ClinGen
gnomAD
VAR_035631
rs201346085
COSM32838
CA7476388
3 R>H large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA391696787
rs201346085
3 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7476389
rs776347957
9 R>C No ClinGen
ExAC
gnomAD
rs61733786
CA7476390
9 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs61733786
CA391696831
9 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750664475
CA7476392
13 S>L No ClinGen
ExAC
gnomAD
CA268800745
rs760311307
14 A>P No ClinGen
TOPMed
gnomAD
rs11544039
CA7476393
COSM3769579
14 A>V pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs879175191
CA268800817
17 N>Y No ClinGen
Ensembl
CA7476397
rs781765489
18 F>L No ClinGen
ExAC
gnomAD
CA268800821
rs915549436
19 Q>H No ClinGen
TOPMed
CA391696894
rs1485889183
19 Q>R No ClinGen
gnomAD
CA7476398
rs748484001
21 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA391696906
rs748484001
21 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs547614545
CA7476399
21 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7476402
rs149132419
27 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774916409
CA7476403
28 P>S No ClinGen
ExAC
gnomAD
TCGA novel 29 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs539480299
CA268800871
30 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA268800872
rs897183037
30 E>D No ClinGen
TOPMed
CA7476404
rs539480299
30 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1396011915
CA391696986
33 F>S No ClinGen
gnomAD
rs1465862364
CA391696992
34 V>L No ClinGen
gnomAD
rs1462729610
CA391697013
37 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA391697008
rs1383390192
37 P>S No ClinGen
gnomAD
rs372639063
CA7476407
38 P>A No ClinGen
ESP
ExAC
TOPMed
CA7476409
rs142256590
38 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7476410
rs142256590
38 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7476408
rs142256590
38 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1363864584
CA391697018
39 Q>* No ClinGen
TOPMed
gnomAD
rs1360936135
CA391697019
39 Q>R No ClinGen
TOPMed
rs1029959783
CA268800898
41 Q>E No ClinGen
TOPMed
rs1566852642
CA391697046
42 N>K No ClinGen
Ensembl
rs766638892
CA7476412
46 T>P No ClinGen
ExAC
gnomAD
rs753610524
CA7476414
48 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs369235955
CA7476413
48 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753304529
CA7476416
49 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756513847
CA7476417
49 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7476419
rs750072898
50 P>H No ClinGen
ExAC
gnomAD
rs1432956864
CA391697093
51 K>T No ClinGen
gnomAD
COSM109372
rs146905959
CA268800955
52 P>L Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs371738802
CA7476422
53 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371738802
CA7476421
53 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476424
rs781079784
54 V>E No ClinGen
ExAC
gnomAD
rs147960311
CA7476423
54 V>M No ClinGen
ESP
ExAC
gnomAD
TCGA novel 56 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7476425
rs748152028
56 P>S No ClinGen
ExAC
gnomAD
CA7476426
rs768438138
57 S>L Variant assessed as Somatic; 0.0003696 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476428
rs762812600
58 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA7476429
rs771018312
COSM1219146
58 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA391697145
rs780868410
61 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs376432897
CA268801007
61 R>Q No ClinGen
TOPMed
gnomAD
rs780868410
CA7476430
61 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7476431
rs759664815
63 Q>R No ClinGen
ExAC
gnomAD
rs372069647
CA268801018
CA391697187
67 M>I No ClinGen
Ensembl
rs753249143
CA7476433
67 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA391697213
rs1222392199
69 T>I No ClinGen
TOPMed
gnomAD
CA268801928
rs964388909
70 V>M No ClinGen
TOPMed
CA7476456
rs762056961
72 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777247289
CA7476455
72 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751201488
CA391697242
75 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs751201488
CA7476458
75 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1162257290
COSM241039
CA391697245
75 A>V large_intestine prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
rs752111070
CA7476461
76 M>I No ClinGen
ExAC
gnomAD
rs2412504
CA7476460
VAR_019993
76 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA268801978
rs751561716
77 P>L No ClinGen
TOPMed
gnomAD
rs777548160
CA7476463
80 G>S No ClinGen
ExAC
gnomAD
rs949588571
CA268802024
82 I>V No ClinGen
TOPMed
gnomAD
rs562965278
CA391697295
83 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs562965278
CA7476464
83 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs778905710
CA7476467
84 G>A No ClinGen
ExAC
gnomAD
rs778905710
CA7476466
84 G>V No ClinGen
ExAC
gnomAD
CA391697308
rs1211358122
86 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs138470960
CA391697318
87 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775883867
CA391697320
88 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476469
rs775883867
88 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs768822725
CA7476471
90 Q>R No ClinGen
ExAC
gnomAD
CA391697352
rs1426833506
92 L>S No ClinGen
TOPMed
CA7476473
rs546721230
94 V>L No ClinGen
ExAC
gnomAD
rs1388022893
CA391697375
96 S>G No ClinGen
gnomAD
rs1595592690
CA391697396
99 T>P No ClinGen
Ensembl
rs765747411
CA7476475
101 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763340659
CA7476476
101 R>H No ClinGen
ExAC
gnomAD
CA7476474
rs765747411
101 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs36081263
VAR_051655
CA7476477
103 R>C No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7476478
rs752441056
103 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752441056
CA391697419
103 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7476479
rs755547814
106 T>P No ClinGen
ExAC
gnomAD
rs993162567
CA268802116
106 T>S No ClinGen
TOPMed
rs1482620196
CA391697439
107 S>G No ClinGen
TOPMed
rs778995699
CA7476483
108 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs137969148
CA7476482
108 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375852612
CA268802164
109 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758320541
CA7476485
109 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375852612
CA7476484
109 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476487
rs149461942
110 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs576083093
CA7476486
110 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7476488
rs768608561
111 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7476489
rs781276189
112 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA7476490
rs781276189
112 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs770247462
CA7476491
113 S>P No ClinGen
ExAC
gnomAD
CA268802217
rs891324777
114 L>P No ClinGen
TOPMed
gnomAD
rs1161302230
CA391697488
117 L>P No ClinGen
gnomAD
CA391697485
rs1283380102
117 L>V No ClinGen
gnomAD
rs773732686
CA7476492
118 G>E No ClinGen
ExAC
gnomAD
CA391697494
rs773732686
118 G>V No ClinGen
ExAC
gnomAD
rs370496102
CA268802238
119 D>N No ClinGen
Ensembl
CA7476494
rs578125124
119 D>V No ClinGen
ExAC
gnomAD
CA7476495
rs555418845
120 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA268802273
rs1009036281
122 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7476496
rs760433390
122 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA7476497
rs202073596
125 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 127 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1329227512
CA391697560
128 M>R No ClinGen
gnomAD
CA268802364
rs868398637
128 M>V No ClinGen
Ensembl
CA391697564
rs1472249285
129 Y>N No ClinGen
TOPMed
rs1429885154
CA391697568
129 Y>S No ClinGen
TOPMed
rs761436778
CA7476499
132 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs375526083
CA268802378
132 S>R No ClinGen
ESP
TOPMed
gnomAD
rs765214803
CA7476500
133 P>L No ClinGen
ExAC
gnomAD
rs750429926
CA7476501
134 Q>* No ClinGen
ExAC
gnomAD
rs373050572
CA268802396
134 Q>L No ClinGen
Ensembl
CA7476503
rs779962106
137 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs751329273
CA7476504
137 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs751329273
CA7476505
137 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA391697623
rs748178787
138 T>I No ClinGen
ExAC
gnomAD
CA7476506
rs781300780
138 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA7476507
rs748178787
138 T>S No ClinGen
ExAC
gnomAD
CA391697626
rs749858992
139 D>A No ClinGen
ExAC
rs376277766
CA268802500
139 D>E No ClinGen
ExAC
gnomAD
CA7476510
rs749858992
139 D>G No ClinGen
ExAC
CA7476509
rs778221199
139 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1323151746
CA391697633
140 P>L No ClinGen
gnomAD
CA391697629
rs1329139382
140 P>S No ClinGen
TOPMed
rs1329641636
CA391697635
141 H>N No ClinGen
gnomAD
rs201017672
CA391697643
142 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs201017672
CA7476514
142 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA391697650
rs1329656142
143 L>F No ClinGen
TOPMed
CA391697671
rs1227210160
146 S>N No ClinGen
gnomAD
CA7476515
rs768311750
147 C>R No ClinGen
ExAC
gnomAD
rs369750707
CA7476518
148 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373280531
CA7476519
CA391697690
149 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs951923899
CA268802569
150 G>D No ClinGen
gnomAD
rs762930141
CA7476520
150 G>S No ClinGen
ExAC
gnomAD
rs35593179
VAR_051656
CA7476522
151 T>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs754753286
CA7476523
152 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs141846316
CA391697726
155 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1370204392
CA391697724
155 H>R No ClinGen
gnomAD
CA7476525
rs370397655
155 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756180270
CA7476527
156 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1388913857
CA391697745
158 M>V No ClinGen
gnomAD
rs777888104
CA7476528
159 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476531
rs779315797
160 W>* No ClinGen
ExAC
gnomAD
rs146254732
CA7476530
160 W>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA391697766
rs1336724077
161 P>S No ClinGen
gnomAD
rs776421325
CA7476534
162 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1255814118
CA391697782
163 P>L No ClinGen
TOPMed
CA7476535
rs747870399
163 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA391697796
rs1356881607
165 S>I No ClinGen
gnomAD
rs1356881607
CA391697794
165 S>N No ClinGen
gnomAD
CA391697795
rs1356881607
165 S>T No ClinGen
gnomAD
rs529361666
CA7476536
166 P>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 166 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA268802718
rs925312360
167 R>Q No ClinGen
TOPMed
gnomAD
CA7476537
rs772785753
167 R>W No ClinGen
ExAC
gnomAD
CA391697807
rs1443058928
168 V>I No ClinGen
TOPMed
gnomAD
CA7476542
rs767281349
170 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs767281349
CA268802741
170 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7476541
rs759346423
170 P>S No ClinGen
ExAC
gnomAD
CA391697818
rs759346423
170 P>T No ClinGen
ExAC
gnomAD
CA7476543
rs752901337
171 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA391697830
rs1305097773
172 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7476544
rs756270578
172 G>R No ClinGen
ExAC
gnomAD
rs764300808
CA391697838
174 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs764300808
CA7476545
174 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1396079549
CA391697843
175 A>T No ClinGen
gnomAD
CA7476547
rs757303621
177 A>G No ClinGen
ExAC
rs1463328748
CA391697875
179 S>F No ClinGen
TOPMed
CA391697879
rs1379975202
180 L>P No ClinGen
TOPMed
gnomAD
rs1387943473
CA391697877
180 L>V No ClinGen
TOPMed
rs191280501
CA7476549
181 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7476548
rs779450855
181 G>S No ClinGen
ExAC
gnomAD
rs191280501
CA7476550
181 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 183 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747386668
CA7476552
183 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1336876803
CA391697893
183 A>V No ClinGen
gnomAD
CA268802801
rs944223823
184 E>G No ClinGen
Ensembl
VAR_040972
rs56349744
CA7476554
184 E>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 185 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1481787791
CA391697911
186 Q>* No ClinGen
TOPMed
CA7476556
rs770390614
187 G>D No ClinGen
ExAC
gnomAD
rs376068775
CA7476555
187 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368829109
CA7476557
188 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1178742957
CA391697928
189 S>A No ClinGen
gnomAD
CA391697931
rs1378608525
189 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7476559
RCV000971621
rs149315160
190 Q>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs775199257
CA7476560
191 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476561
rs61732685
RCV000964146
191 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764247717
CA7476562
193 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1364068491
CA391697952
193 L>V No ClinGen
gnomAD
CA391697962
rs1331493048
194 Q>H No ClinGen
gnomAD
CA268802828
rs200417617
196 G>D No ClinGen
1000Genomes
rs765293693
CA391697974
197 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA7476565
rs765293693
197 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7476566
RCV000971622
rs144246288
198 C>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs780741317
CA391697987
199 L>P No ClinGen
ExAC
gnomAD
CA7476568
rs780741317
199 L>Q No ClinGen
ExAC
gnomAD
CA7476569
rs751924621
200 Q>R No ClinGen
ExAC
gnomAD
rs1368409522
CA391698007
202 S>Y No ClinGen
TOPMed
rs1183099482
CA391698014
203 P>L No ClinGen
TOPMed
rs1197359349
CA391698016
204 P>A No ClinGen
TOPMed
gnomAD
rs1197359349
CA391698017
204 P>S No ClinGen
TOPMed
gnomAD
rs55920845
CA391698025
205 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7476571
rs55920845
VAR_040973
205 G>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7476573
rs141487285
207 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1294937746
CA391698042
208 P>L No ClinGen
gnomAD
rs35501648
CA391698038
208 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs35501648
RCV000948425
VAR_040974
CA7476575
208 P>T No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1391097596
CA391698045
209 P>S No ClinGen
gnomAD
rs34869667
CA391698052
210 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_040975
CA7476576
rs34869667
210 T>M No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs147727470
CA7476577
211 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA391698054
rs1228965092
211 G>S No ClinGen
gnomAD
rs371550083
CA268802943
212 T>A No ClinGen
ESP
TOPMed
rs760437193
CA7476578
213 N>H No ClinGen
ExAC
gnomAD
CA391698066
rs1223970801
213 N>S No ClinGen
TOPMed
gnomAD
CA7476580
rs3743135
VAR_019994
215 H>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7476579
rs768477949
215 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1473180777
CA391698106
218 K>N No ClinGen
gnomAD
rs761887113
CA7476581
219 A>T No ClinGen
ExAC
gnomAD
CA7476583
rs556758169
221 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391698127
rs1566854315
222 H>R No ClinGen
Ensembl
rs181253186
CA7476584
222 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391698135
rs766971719
223 G>D No ClinGen
ExAC
gnomAD
CA7476586
rs766971719
223 G>V No ClinGen
ExAC
gnomAD
CA7476587
rs752153732
226 E>K No ClinGen
ExAC
gnomAD
CA7476590
rs753117422
227 A>D No ClinGen
ExAC
gnomAD
CA7476589
rs781727329
227 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs753117422
CA391698161
227 A>V No ClinGen
ExAC
gnomAD
CA391698164
rs1305992289
228 R>Q No ClinGen
TOPMed
gnomAD
rs756792521
CA7476592
228 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA391698170
rs1230152097
229 P>L No ClinGen
gnomAD
rs778657940
CA7476594
229 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA7476595
rs745313213
232 C>F No ClinGen
ExAC
gnomAD
CA268803107
rs771616530
234 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7476596
rs771616530
234 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA7476597
rs779932751
236 S>L No ClinGen
ExAC
gnomAD
rs746389249
CA7476599
238 T>I No ClinGen
ExAC
TOPMed
rs746389249
CA391698222
238 T>K No ClinGen
ExAC
TOPMed
CA391698225
rs1204991527
239 G>D No ClinGen
gnomAD
CA7476600
rs776225431
239 G>S No ClinGen
ExAC
CA391698232
rs1479359879
240 R>M No ClinGen
gnomAD
CA7476601
rs367656601
242 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1595593806
CA391698256
244 E>G No ClinGen
Ensembl
rs1223904821
CA391698260
245 G>S No ClinGen
TOPMed
rs1443583667
CA391698269
246 S>N No ClinGen
gnomAD
CA7476603
rs773532116
248 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA391698290
rs752100756
249 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7476606
rs752100756
249 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs371445081
CA7476605
249 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391698292
rs1455182455
250 K>Q No ClinGen
TOPMed
CA7476609
rs752963669
252 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7476608
rs768072309
252 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7476611
rs374286048
253 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391698318
rs1300099122
254 S>N No ClinGen
gnomAD
CA391698335
rs1343313765
256 L>R No ClinGen
gnomAD
rs750127946
CA7476612
257 K>R No ClinGen
ExAC
gnomAD
rs143324236
CA7476614
258 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143324236
CA7476613
258 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7476615
rs746529258
258 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476616
rs746529258
258 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1237497362
CA391698345
259 R>G No ClinGen
TOPMed
gnomAD
rs747873967
CA7476618
261 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1247362863
CA391698365
262 R>* No ClinGen
TOPMed
rs61739745
CA7476619
262 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1449817721
CA391698377
264 M>V No ClinGen
gnomAD
rs773304292
CA7476620
265 F>L No ClinGen
ExAC
gnomAD
rs749582633
CA7476621
269 A>G No ClinGen
ExAC
rs911637638
CA268803348
271 T>A No ClinGen
TOPMed
rs774504023
CA7476623
COSM1191621
276 S>N central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs759719893
CA7476624
278 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA391698482
rs1370202458
280 G>D No ClinGen
gnomAD
rs776109877
CA7476626
281 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs767862380
CA7476625
281 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1269590977
CA391698499
283 P>L No ClinGen
gnomAD
CA7476628
rs764583754
283 P>S No ClinGen
ExAC
gnomAD
rs750060851
CA7476629
284 Q>E No ClinGen
ExAC
rs1465034116
CA391698505
284 Q>H No ClinGen
gnomAD
CA391698511
rs757982465
285 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA7476630
rs757982465
285 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA391698521
rs1478888396
286 K>N No ClinGen
TOPMed
gnomAD
rs1174474272
CA391698518
286 K>R No ClinGen
TOPMed
rs1595601854
CA391699361
288 N>T No ClinGen
Ensembl
rs1358077388
CA391699394
291 F>L No ClinGen
TOPMed
gnomAD
CA268808879
rs75694545
291 F>S No ClinGen
Ensembl
CA7476655
COSM1640221
rs777880762
292 R>* stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs150100570
CA7476656
292 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371298913
CA7476657
293 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371298913
CA7476658
293 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476660
rs772030152
294 P>L No ClinGen
ExAC
gnomAD
rs772030152
CA391699415
294 P>R No ClinGen
ExAC
gnomAD
CA391699412
rs1252520074
294 P>S No ClinGen
gnomAD
CA7476662
rs747091766
296 K>N No ClinGen
ExAC
gnomAD
rs1163196284
CA391699444
297 D>G No ClinGen
gnomAD
rs1473222923
CA391699439
297 D>N No ClinGen
TOPMed
gnomAD
CA391699454
rs1383701420
298 N>S No ClinGen
gnomAD
rs769159586
CA7476663
299 P>T No ClinGen
ExAC
gnomAD
CA391699473
rs1040558528
300 P>L No ClinGen
TOPMed
CA268808948
rs1040558528
300 P>Q No ClinGen
TOPMed
rs777172218
CA7476664
300 P>S No ClinGen
ExAC
gnomAD
CA7476665
rs762134147
303 V>M No ClinGen
ExAC
gnomAD
rs1399228355
CA391699506
304 A>T No ClinGen
TOPMed
CA7476667
rs773982331
306 A>G No ClinGen
ExAC
gnomAD
CA268808996
rs374205024
311 S>L No ClinGen
ESP
TOPMed
gnomAD
CA7476670
rs752209695
312 D>A No ClinGen
ExAC
gnomAD
rs371922217
CA7476671
313 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764096964
CA7476672
314 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1194032400
CA391699628
315 V>L No ClinGen
gnomAD
CA7476675
rs778909474
317 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs778909474
CA391699647
317 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA7476677
rs758608674
319 S>T No ClinGen
ExAC
gnomAD
CA268809043
rs965694957
320 P>L No ClinGen
TOPMed
rs200107644
CA7476678
320 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1566857606
CA391699711
323 T>S No ClinGen
Ensembl
rs759202398
CA7476679
324 S>L Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3361359
CA268809063
rs866737297
329 P>L kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs868358280
CA268809066
332 S>F No ClinGen
Ensembl
rs781664567
CA7476681
332 S>P No ClinGen
ExAC
gnomAD
TCGA novel 333 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143993282
CA7476682
334 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770302351
CA7476683
334 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7476685
rs773501708
335 T>I No ClinGen
ExAC
gnomAD
rs773501708
CA7476684
335 T>K No ClinGen
ExAC
gnomAD
VAR_019995
CA7476686
rs3743137
337 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs536947257
CA268809100
339 T>I No ClinGen
1000Genomes
TOPMed
CA7476689
rs550706939
341 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs371395174
CA7476690
342 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1324359981
CA391699933
343 P>A No ClinGen
gnomAD
rs750185540
CA7476693
345 R>Q No ClinGen
ExAC
gnomAD
rs371593698
CA7476692
345 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391699981
rs1201627654
COSM233037
348 P>S skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA7476694
rs201684963
349 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1403289161
COSM1517042
CA391700003
350 G>E lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs553217842
CA7476696
350 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA7476697
rs755041870
351 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs267604171
CA391700023
352 P>H No ClinGen
ExAC
gnomAD
rs267604171
CA7476700
352 P>L No ClinGen
ExAC
gnomAD
TCGA novel 353 R>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369825628
CA7476701
353 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1303293188
COSM961115
CA391700032
353 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs749639508
CA7476702
354 T>I No ClinGen
ExAC
gnomAD
CA391700036
rs1595602287
354 T>P No ClinGen
Ensembl
rs1281402492
CA391700053
355 W>S No ClinGen
gnomAD
rs566841147
CA7476705
357 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA7476704
rs775199852
357 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs776213543
CA391700111
359 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA7476708
rs761432480
362 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1473327400
CA391700225
367 P>L No ClinGen
gnomAD
rs142340502
CA268809218
368 Q>R No ClinGen
ESP
TOPMed
gnomAD
CA7476710
rs202233605
370 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476711
rs202233605
370 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476712
rs377762904
371 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7476714
rs755129680
372 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1267730521
CA391700325
375 G>R No ClinGen
gnomAD
rs767760161
CA7476715
375 G>V No ClinGen
ExAC
gnomAD
CA7476716
rs569144141
376 A>T No ClinGen
ExAC
gnomAD
VAR_040976
CA7476717
rs55806501
376 A>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs139850733
CA7476720
379 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749822688
CA7476719
379 G>S No ClinGen
ExAC
gnomAD
CA391700380
rs1315308061
380 E>D No ClinGen
gnomAD
CA391700369
rs1356295773
380 E>K No ClinGen
TOPMed
rs779088483
CA7476721
381 D>V No ClinGen
ExAC
gnomAD
rs746237876
CA7476722
382 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1359186065
CA391700442
385 V>G No ClinGen
gnomAD
rs145336671
CA7476724
388 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM313872
CA391700532
rs1442440874
390 F>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA391700546
rs539392829
391 K>N No ClinGen
gnomAD
CA7476725
rs747631902
392 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs147750062
CA268809324
393 A>V No ClinGen
ESP
TOPMed
gnomAD
CA7476727
rs773188058
396 M>T No ClinGen
ExAC
gnomAD
rs1423834659
CA391700642
400 Q>* No ClinGen
gnomAD
rs1372374637
CA391700659
401 G>D No ClinGen
gnomAD
CA7476730
rs773980926
401 G>R No ClinGen
ExAC
rs771921802
CA268809353
402 D>H No ClinGen
Ensembl
rs544933416
CA7476731
403 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs544933416
CA268809362
403 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA7476733
rs752954384
404 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs767701022
CA7476732
404 R>W No ClinGen
ExAC
gnomAD
CA7476734
rs760735362
405 L>P No ClinGen
ExAC
gnomAD
TCGA novel 408 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382486009
CA391700736
409 S>G No ClinGen
gnomAD
TCGA novel 409 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391700739
rs1244302233
409 S>T No ClinGen
gnomAD
rs757638158
CA7476737
411 V>M No ClinGen
ExAC
gnomAD
TCGA novel 414 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758876076
CA7476740
415 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA391700828
rs780988330
416 G>A No ClinGen
ExAC
gnomAD
CA7476741
rs780988330
416 G>V No ClinGen
ExAC
gnomAD
CA391700843
rs1243425395
418 T>A No ClinGen
gnomAD
CA391700850
rs1443748950
418 T>I No ClinGen
gnomAD
rs1243425395
CA391700841
418 T>P No ClinGen
gnomAD
CA7476743
rs769503362
419 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA391700875
rs1169657232
421 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs145812191
CA7476744
425 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7476746
rs145647822
425 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145812191
CA7476745
425 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA268809508
rs952119008
426 E>* No ClinGen
TOPMed
gnomAD
CA268809546
rs774318821
426 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA268809520
rs985255163
426 E>G No ClinGen
TOPMed
gnomAD
rs1595602708
CA391700943
427 K>R No ClinGen
Ensembl
rs1300212269
CA391700951
428 H>N No ClinGen
gnomAD
rs1247881638
CA391700957
428 H>R No ClinGen
TOPMed
rs1300212269
CA391700953
428 H>Y No ClinGen
gnomAD
CA7476748
rs759294194
429 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA391701781
rs759294194
429 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA391701784
rs1305234489
430 G>S No ClinGen
gnomAD
rs775672184
CA7476750
430 G>V No ClinGen
ExAC
gnomAD
CA7476752
rs369042481
431 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476753
rs753819966
431 R>H Variant assessed as Somatic; 5.897e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753819966
CA391701806
431 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7476754
rs761974400
433 V>M No ClinGen
ExAC
gnomAD
CA7476755
rs765632390
435 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1185850296
CA391701860
436 K>R No ClinGen
gnomAD
rs1481443132
CA391701945
441 R>S No ClinGen
gnomAD
rs980733153
CA268809634
442 K>* No ClinGen
Ensembl
rs1177197569
CA391701975
443 Q>H No ClinGen
gnomAD
CA7476756
rs751039749
444 Q>R No ClinGen
ExAC
gnomAD
CA7476758
rs780508332
445 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7476759
rs751980188
445 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA391702003
rs751980188
445 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1455070939
CA391702007
446 R>G No ClinGen
TOPMed
CA391702024
rs1595602899
447 E>K No ClinGen
Ensembl
rs770511787
CA7476763
450 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs745859307
CA7476765
452 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1290798417
CA391702222
456 M>L No ClinGen
gnomAD
rs764899757
CA7476799
456 M>T No ClinGen
ExAC
gnomAD
rs1273714796
CA391702244
457 R>P No ClinGen
gnomAD
rs1273714796
CA391702246
457 R>Q No ClinGen
gnomAD
rs201655600
CA7476800
457 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391702295
rs1595603306
460 Q>L No ClinGen
Ensembl
CA7476803
rs201153660
463 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780974985
CA7476805
464 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA391702353
rs780974985
464 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1383805995
CA391702372
465 V>L No ClinGen
gnomAD
rs529880620
CA7476807
466 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA268809960
rs1015738858
467 M>K No ClinGen
gnomAD
CA391702424
rs1328831566
468 Y>C No ClinGen
gnomAD
rs1408924116
CA391702417
468 Y>H No ClinGen
gnomAD
CA391702437
rs1452943453
469 K>R No ClinGen
gnomAD
CA391702473
rs1338487157
471 Y>C No ClinGen
TOPMed
gnomAD
rs778192276
CA7476809
471 Y>H No ClinGen
ExAC
gnomAD
CA391702481
rs1229507748
472 L>V No ClinGen
TOPMed
gnomAD
rs749351655
CA7476810
473 V>L No ClinGen
ExAC
gnomAD
rs749351655
CA391702489
473 V>M No ClinGen
ExAC
gnomAD
CA7476812
rs34445577
VAR_051657
475 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
CA7476813
rs760026583
476 E>K No ClinGen
ExAC
gnomAD
rs760026583
CA7476814
476 E>Q No ClinGen
ExAC
gnomAD
CA7476815
rs775883119
478 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7476817
rs761050162
480 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs761050162
CA7476816
480 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs750114826
CA7476818
481 M>T No ClinGen
ExAC
gnomAD
CA391702592
rs1373060023
483 F>L No ClinGen
gnomAD
rs775743672
CA268809991
485 Q>* No ClinGen
Ensembl
CA7476820
rs765858941
485 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs751036956
CA7476821
486 G>E No ClinGen
ExAC
gnomAD
CA7476822
rs754905439
487 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA391702645
rs1198700247
488 A>D No ClinGen
TOPMed
gnomAD
rs1436760929
CA391702640
488 A>T No ClinGen
gnomAD
TCGA novel 491 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7476824
rs140245743
492 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476826
rs778140999
493 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA391702711
rs1445515286
495 Q>* No ClinGen
TOPMed
CA268810014
rs372547442
496 V>I No ClinGen
ESP
ExAC
gnomAD
CA7476828
rs372547442
496 V>L No ClinGen
ESP
ExAC
gnomAD
CA7476845
rs752752648
498 L>R No ClinGen
ExAC
TCGA novel 500 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391702793
rs1293198742
500 E>K No ClinGen
TOPMed
gnomAD
CA391702794
rs1293198742
500 E>Q No ClinGen
TOPMed
gnomAD
CA7476849
rs757458339
501 E>G No ClinGen
ExAC
gnomAD
rs377397005
CA7476848
501 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs377397005
CA391702802
501 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1420446928
CA391702813
502 Q>H No ClinGen
gnomAD
CA391702812
rs1595604119
502 Q>L No ClinGen
Ensembl
rs1182090988
CA391702819
503 I>T No ClinGen
gnomAD
CA391702833
rs1417694483
505 T>S No ClinGen
gnomAD
CA268810235
rs960076117
512 Q>H No ClinGen
TOPMed
CA268810232
rs924773501
512 Q>L No ClinGen
TOPMed
CA391702884
rs1165371983
513 A>V No ClinGen
gnomAD
VAR_040977 514 L>R a lung small cell carcinoma sample; somatic mutation [UniProt] No UniProt
CA7476850
rs779024966
515 A>V No ClinGen
ExAC
gnomAD
rs1291799565
CA391702900
516 Y>C No ClinGen
gnomAD
CA391702903
rs1392176646
517 L>M No ClinGen
gnomAD
rs780605365
CA391702911
518 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs780605365
CA7476853
518 H>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 518 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747457346
CA391702919
519 A>G No ClinGen
ExAC
gnomAD
COSM187221
rs747457346
CA7476854
519 A>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7476855
rs769157043
522 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7476856
rs776943230
523 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs574508370
CA268810264
524 H>Q No ClinGen
Ensembl
CA391702947
rs1423018143
524 H>Y No ClinGen
TOPMed
rs748536361
CA7476857
525 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA391702953
rs1190509134
525 R>W No ClinGen
TOPMed
rs1335857151
CA391702956
526 D>N No ClinGen
gnomAD
CA391702966
rs1185161057
527 I>F No ClinGen
gnomAD
rs1385647584
CA391702982
529 S>N No ClinGen
gnomAD
CA391703000
rs1340911365
531 S>F No ClinGen
gnomAD
CA268810271
rs915606382
535 T>N No ClinGen
TOPMed
gnomAD
rs1443856744
CA391703020
535 T>P No ClinGen
TOPMed
gnomAD
rs544478594
CA7476861
536 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148062077
CA7476863
537 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476883
rs373086987
541 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761663909
CA7476884
542 L>F No ClinGen
ExAC
gnomAD
CA391703084
rs1263425484
544 D>N No ClinGen
gnomAD
CA7476888
rs766611697
546 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs751617316
CA7476889
549 A>V No ClinGen
ExAC
CA391703139
rs199802493
551 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA268810388
rs906266834
551 I>V No ClinGen
TOPMed
CA268810392
rs113493588
552 S>N No ClinGen
Ensembl
rs141761526
CA7476893
555 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs141761526
CA391703164
555 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756662143
CA7476894
556 P>R No ClinGen
ExAC
gnomAD
rs1377138602
CA391703170
556 P>S No ClinGen
TOPMed
CA268810403
rs753631628
558 R>K No ClinGen
TOPMed
CA391703215
rs1372362998
563 G>E No ClinGen
TOPMed
CA391703223
rs1413012313
564 T>S No ClinGen
gnomAD
rs1469350323
CA391703253
568 M>I No ClinGen
gnomAD
CA391703247
rs1346175776
568 M>L No ClinGen
TOPMed
gnomAD
CA391703251
rs1427220368
568 M>T No ClinGen
gnomAD
rs779898625
CA7476898
571 E>Q No ClinGen
ExAC
gnomAD
CA268810440
rs778956144
573 I>T No ClinGen
Ensembl
rs1406281161
CA391703295
575 R>K No ClinGen
gnomAD
CA268810444
rs1020874245
577 L>S No ClinGen
Ensembl
CA391703320
rs1283399029
579 A>T No ClinGen
gnomAD
CA268810810
rs943478630
585 W>* No ClinGen
TOPMed
CA391703412
rs1307789154
590 M>I No ClinGen
TOPMed
rs1369160765
CA391703410
590 M>T No ClinGen
TOPMed
rs1389373608
CA391703415
591 V>M No ClinGen
gnomAD
rs767753997
CA7476927
592 I>T No ClinGen
ExAC
gnomAD
CA7476928
rs775380507
593 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7476929
rs147489955
594 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1445615216
CA391703449
596 D>H No ClinGen
gnomAD
rs564064166
CA268810824
596 D>V No ClinGen
Ensembl
CA7476931
rs754433688
597 G>E No ClinGen
ExAC
gnomAD
CA391703457
rs1161618135
597 G>R No ClinGen
TOPMed
CA391703474
rs1283573471
599 P>L No ClinGen
gnomAD
CA391703477
rs1436025283
600 P>S No ClinGen
TOPMed
rs1216359341
CA391703512
603 S>N No ClinGen
gnomAD
rs765637734
CA7476933
604 D>E No ClinGen
ExAC
gnomAD
TCGA novel 606 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7476936
rs74468066
608 Q>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7476937
rs747582149
609 A>V No ClinGen
ExAC
gnomAD
CA268810870
rs1054668619
610 M>T No ClinGen
Ensembl
CA7476938
rs139943572
611 K>N No ClinGen
ESP
ExAC
gnomAD
rs1462092175
CA391703588
611 K>R No ClinGen
gnomAD
CA268810889
rs201804704
612 R>S No ClinGen
TOPMed
gnomAD
TCGA novel 613 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7476939
rs143844489
614 R>Q Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476942
rs774088079
616 S>R No ClinGen
ExAC
gnomAD
rs1222058076
CA391703644
617 P>T No ClinGen
TOPMed
rs762276597
CA7476943
618 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762276597
CA7476945
618 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762276597
CA7476944
618 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA391703660
rs1407997977
619 P>S No ClinGen
gnomAD
TCGA novel 619 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391703681
rs1566859138
621 L>V No ClinGen
Ensembl
CA391703706
rs1396428108
623 N>S No ClinGen
gnomAD
TCGA novel 624 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371992889
CA268810933
625 H>D No ClinGen
ESP
CA7476947
rs764291420
625 H>Q No ClinGen
ExAC
gnomAD
TCGA novel 625 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7476970
rs550108869
632 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391703964
rs1375705472
632 R>Q No ClinGen
gnomAD
CA391703973
rs1471068594
633 D>E No ClinGen
gnomAD
rs1469469717
CA391703971
633 D>G No ClinGen
TOPMed
TCGA novel 633 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 635 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766710648
CA7476972
637 R>G No ClinGen
ExAC
gnomAD
CA7476973
rs147232997
637 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM961119
rs766710648
CA268811861
637 R>W Variant assessed as Somatic; impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs763671771
CA7476975
638 M>L No ClinGen
ExAC
gnomAD
rs1595608473
CA391704014
640 V>G No ClinGen
Ensembl
CA7476978
rs778815914
641 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476977
COSM2269113
rs756797198
641 R>W kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7476980
rs758280121
642 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA391704024
rs1308891398
642 D>V No ClinGen
TOPMed
rs1235261527
CA391704035
644 Q>* No ClinGen
TOPMed
rs1046341696
CA268811886
644 Q>H No ClinGen
TOPMed
gnomAD
rs1279476884
CA391704037
644 Q>R No ClinGen
gnomAD
CA268811888
rs774970017
646 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 646 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779831380
CA7476982
646 R>S No ClinGen
ExAC
gnomAD
rs1264879400
CA391704050
646 R>T No ClinGen
gnomAD
rs905064215
CA268811898
647 A>T No ClinGen
TOPMed
gnomAD
CA7476984
rs768900428
648 T>I No ClinGen
ExAC
gnomAD
rs374185464
CA7476986
650 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7476987
rs770058646
651 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA391704076
rs770058646
651 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA391704099
rs1291888741
654 D>E No ClinGen
gnomAD
CA268811956
rs898586749
654 D>V No ClinGen
TOPMed
rs763453474
CA7476989
655 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA391704113
rs1490235911
656 P>L No ClinGen
gnomAD
rs1192499871
CA391704118
657 F>S No ClinGen
TOPMed
rs542450558
CA7476991
659 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs542450558
CA268811968
659 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1566860158
CA391704134
660 Q>R No ClinGen
Ensembl
CA7476993
rs763701428
662 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs759863961
CA7476992
662 G>R No ClinGen
ExAC
gnomAD
CA391704151
rs1321764232
663 L>P No ClinGen
gnomAD
CA391704178
rs1263193509
667 L>P No ClinGen
gnomAD
CA391704182
rs1445678288
668 V>L No ClinGen
TOPMed
TCGA novel 668 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201637258
CA7476996
670 L>V No ClinGen
ExAC
rs749904424
CA7476998
673 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs749904424
CA7476997
673 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA7476999
rs377614111
674 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7477000
rs751339079
675 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA7477001
rs754797947
COSM1608316
675 R>Q Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781552729
CA7477002
677 Q>H No ClinGen
ExAC
gnomAD
CA391704238
rs1218737752
677 Q>R No ClinGen
TOPMed
CA391704245
COSM961120
rs1256719444
678 T>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA391704240
rs1595608719
678 T>P No ClinGen
Ensembl
rs1595608730
CA391704252
680 T>P No ClinGen
Ensembl
CA391704260
rs1379584778
681 C>G No ClinGen
gnomAD
rs1162694575
CA391704268
682 C>R No ClinGen
gnomAD

1 associated diseases with Q9NQU5

Without disease ID

5 regional properties for Q9NQU5

Type Name Position InterPro Accession
domain FKBP-type peptidyl-prolyl cis-trans isomerase domain 115 - 204 IPR001179
repeat Tetratricopeptide repeat 2 307 - 339 IPR013105
repeat Tetratricopeptide repeat 228 - 261 IPR019734-1
repeat Tetratricopeptide repeat 272 - 305 IPR019734-2
repeat Tetratricopeptide repeat 306 - 339 IPR019734-3

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Cotranslocates into nucleus with AR in response to androgen induction
PANTHER Family PTHR48015 SERINE/THREONINE-PROTEIN KINASE TAO
PANTHER Subfamily PTHR48015:SF19 SERINE_THREONINE-PROTEIN KINASE PAK 6
PANTHER Protein Class non-receptor serine/threonine protein kinase
protein modifying enzyme
PANTHER Pathway Category Inflammation mediated by chemokine and cytokine signaling pathway
PAK
Cytoskeletal regulation by Rho GTPase
PAK

5 GO annotations of cellular component

Name Definition
cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

4 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
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.

11 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
learning Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
locomotory behavior The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions.
memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
neuron projection arborization The process in which the anatomical structures of a neuron projection are generated and organized into branches. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
neuron projection extension Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade.

26 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q12469 SKM1 Serine/threonine-protein kinase SKM1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q08E52 PAK1 Serine/threonine-protein kinase PAK 1 Bos taurus (Bovine) SS
Q7YQL4 PAK3 Serine/threonine-protein kinase PAK 3 Pan troglodytes (Chimpanzee) SS
Q9VXE5 mbt Serine/threonine-protein kinase PAK mbt Drosophila melanogaster (Fruit fly) PR
Q9NQU5 PAK6 Serine/threonine-protein kinase PAK 6 Homo sapiens (Human) EV
Q13043 STK4 Serine/threonine-protein kinase 4 Homo sapiens (Human) EV
Q13188 STK3 Serine/threonine-protein kinase 3 Homo sapiens (Human) SS
Q9P286 PAK5 Serine/threonine-protein kinase PAK 5 Homo sapiens (Human) EV
O96013 PAK4 Serine/threonine-protein kinase PAK 4 Homo sapiens (Human) EV
Q13177 PAK2 Serine/threonine-protein kinase PAK 2 Homo sapiens (Human) EV
O75914 PAK3 Serine/threonine-protein kinase PAK 3 Homo sapiens (Human) SS
Q13153 PAK1 Serine/threonine-protein kinase PAK 1 Homo sapiens (Human) EV
O95819 MAP4K4 Mitogen-activated protein kinase kinase kinase kinase 4 Homo sapiens (Human) PR
Q8CIN4 Pak2 Serine/threonine-protein kinase PAK 2 Mus musculus (Mouse) SS
O88643 Pak1 Serine/threonine-protein kinase PAK 1 Mus musculus (Mouse) SS
Q61036 Pak3 Serine/threonine-protein kinase PAK 3 Mus musculus (Mouse) SS
Q8C015 Pak5 Serine/threonine-protein kinase PAK 5 Mus musculus (Mouse) SS
Q3ULB5 Pak6 Serine/threonine-protein kinase PAK 6 Mus musculus (Mouse) PR
Q8BTW9 Pak4 Serine/threonine-protein kinase PAK 4 Mus musculus (Mouse) PR
Q62829 Pak3 Serine/threonine-protein kinase PAK 3 Rattus norvegicus (Rat) SS
Q64303 Pak2 Serine/threonine-protein kinase PAK 2 Rattus norvegicus (Rat) SS
P35465 Pak1 Serine/threonine-protein kinase PAK 1 Rattus norvegicus (Rat) SS
D4A280 Pak5 Serine/threonine-protein kinase PAK 5 Rattus norvegicus (Rat) SS
Q17850 pak-1 Serine/threonine-protein kinase pak-1 Caenorhabditis elegans PR
G5EGQ3 max-2 Serine/threonine-protein kinase max-2 Caenorhabditis elegans SS
G5EFU0 pak-2 Serine/threonine-protein kinase pak-2 Caenorhabditis elegans PR
10 20 30 40 50 60
MFRKKKKKRP EISAPQNFQH RVHTSFDPKE GKFVGLPPQW QNILDTLRRP KPVVDPSRIT
70 80 90 100 110 120
RVQLQPMKTV VRGSAMPVDG YISGLLNDIQ KLSVISSNTL RGRSPTSRRR AQSLGLLGDE
130 140 150 160 170 180
HWATDPDMYL QSPQSERTDP HGLYLSCNGG TPAGHKQMPW PEPQSPRVLP NGLAAKAQSL
190 200 210 220 230 240
GPAEFQGASQ RCLQLGACLQ SSPPGASPPT GTNRHGMKAA KHGSEEARPQ SCLVGSATGR
250 260 270 280 290 300
PGGEGSPSPK TRESSLKRRL FRSMFLSTAA TAPPSSSKPG PPPQSKPNSS FRPPQKDNPP
310 320 330 340 350 360
SLVAKAQSLP SDQPVGTFSP LTTSDTSSPQ KSLRTAPATG QLPGRSSPAG SPRTWHAQIS
370 380 390 400 410 420
TSNLYLPQDP TVAKGALAGE DTGVVTHEQF KAALRMVVDQ GDPRLLLDSY VKIGEGSTGI
430 440 450 460 470 480
VCLAREKHSG RQVAVKMMDL RKQQRRELLF NEVVIMRDYQ HFNVVEMYKS YLVGEELWVL
490 500 510 520 530 540
MEFLQGGALT DIVSQVRLNE EQIATVCEAV LQALAYLHAQ GVIHRDIKSD SILLTLDGRV
550 560 570 580 590 600
KLSDFGFCAQ ISKDVPKRKS LVGTPYWMAP EVISRSLYAT EVDIWSLGIM VIEMVDGEPP
610 620 630 640 650 660
YFSDSPVQAM KRLRDSPPPK LKNSHKVSPV LRDFLERMLV RDPQERATAQ ELLDHPFLLQ
670 680
TGLPECLVPL IQLYRKQTST C