Q9NQU5
Gene name |
PAK6 (PAK5) |
Protein name |
Serine/threonine-protein kinase PAK 6 |
Names |
PAK-5, p21-activated kinase 6, PAK-6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56924 |
EC number |
|
Protein Class |
SERINE/THREONINE-PROTEIN KINASE TAO (PTHR48015) |

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
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Ching YP et al. (2003) "Identification of an autoinhibitory domain of p21-activated protein kinase 5", The Journal of biological chemistry, 278, 33621-4
- Bautista L et al. (2020) "p21-Activated Kinases in Thyroid Cancer", Endocrinology, 161,
- Ha BH et al. (2012) "Type II p21-activated kinases (PAKs) are regulated by an autoinhibitory pseudosubstrate", Proceedings of the National Academy of Sciences of the United States of America, 109, 16107-12
- Chong C et al. (2001) "The mechanism of PAK activation. Autophosphorylation events in both regulatory and kinase domains control activity", The Journal of biological chemistry, 276, 17347-53
- Wang J et al. (2011) "Structural insights into the autoactivation mechanism of p21-activated protein kinase", Structure (London, England : 1993), 19, 1752-61
- Lei M et al. (2000) "Structure of PAK1 in an autoinhibited conformation reveals a multistage activation switch", Cell, 102, 387-97
- Totaro A et al. (2007) "Identification of an intramolecular interaction important for the regulation of GIT1 functions", Molecular biology of the cell, 18, 5124-38
- Rousseau V et al. (2003) "A new constitutively active brain PAK3 isoform displays modified specificities toward Rac and Cdc42 GTPases", The Journal of biological chemistry, 278, 3912-20
- Dan C et al. (2002) "PAK5, a new brain-specific kinase, promotes neurite outgrowth in N1E-115 cells", Molecular and cellular biology, 22, 567-77
- Kaur R et al. (2005) "Activation of p21-activated kinase 6 by MAP kinase kinase 6 and p38 MAP kinase", The Journal of biological chemistry, 280, 3323-30
- Gao J et al. (2013) "Substrate and inhibitor specificity of the type II p21-activated kinase, PAK6", PloS one, 8, e77818
Autoinhibited structure

Activated structure

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 |
|
|
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 |