Q9BZQ2
PR
Gene name |
SHCBP1L |
Protein name |
Testicular spindle-associated protein SHCBP1L |
Names |
SHC SH2 domain-binding protein 1-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81626 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9BZQ2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BZQ2-F1 | Predicted | AlphaFoldDB |
625 variants for Q9BZQ2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA174765 COSM1178226 rs193921086 RCV000149313 |
294 | T>K | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA33941854 rs1019424234 |
3 | S>A | No |
ClinGen Ensembl |
|
|
rs1331151366 CA343681391 |
4 | G>A | No |
ClinGen gnomAD |
|
|
rs1331151366 CA343681389 |
4 | G>D | No |
ClinGen gnomAD |
|
|
CA1280731 rs143233925 |
4 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143233925 CA343681398 |
4 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343681392 rs1331151366 |
4 | G>V | No |
ClinGen gnomAD |
|
|
CA1280729 rs780952217 |
6 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343681333 rs780952217 |
6 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343681308 rs757188431 |
7 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1280728 rs757188431 |
7 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751500922 CA1280727 |
8 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191328298 CA343681264 |
9 | V>A | No |
ClinGen gnomAD |
|
|
CA343681243 rs1472915482 |
10 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs549871703 CA343681199 |
11 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1280724 rs549871703 |
11 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764992174 CA1280723 |
12 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210844837 CA343681122 |
13 | S>* | No |
ClinGen gnomAD |
|
|
rs1375665384 CA343681116 |
14 | F>I | No |
ClinGen TOPMed |
|
|
CA343681113 rs1375665384 |
14 | F>L | No |
ClinGen TOPMed |
|
|
CA1280721 rs375295609 |
15 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343681069 rs1276635544 |
15 | R>H | No |
ClinGen gnomAD |
|
|
rs1276635544 CA343681066 |
15 | R>P | No |
ClinGen gnomAD |
|
|
CA1280720 rs375295609 |
15 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762372653 CA1280719 |
16 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1280718 rs774908932 |
17 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1309105451 CA343680957 |
18 | S>N | No |
ClinGen TOPMed |
|
|
CA1280717 CA1280716 rs78487548 |
18 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780201697 CA1280715 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780201697 CA343680923 |
19 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs746117204 CA1280713 |
20 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343680914 rs1303965385 |
20 | D>H | No |
ClinGen gnomAD |
|
|
rs1171267417 CA343680876 |
21 | R>K | No |
ClinGen gnomAD |
|
|
rs1380533813 CA343680809 |
23 | G>S | No |
ClinGen gnomAD |
|
|
CA33941673 rs757058112 |
24 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280711 rs757058112 |
24 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258129645 CA343680770 |
24 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1182342998 CA343680711 |
26 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1482911744 CA343680700 |
26 | S>Y | No |
ClinGen gnomAD |
|
|
rs1571365479 CA343680683 |
27 | A>V | No |
ClinGen Ensembl |
|
|
rs1056586389 CA33941666 |
28 | S>P | No |
ClinGen Ensembl |
|
|
rs868364926 CA343680620 |
32 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1285608810 CA343680624 |
32 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs868364926 CA33941660 |
32 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756745798 CA33941655 |
33 | D>N | No |
ClinGen gnomAD |
|
|
rs757921828 CA1280708 |
33 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343680605 rs756745798 |
33 | D>Y | No |
ClinGen gnomAD |
|
|
rs752274519 CA1280707 |
34 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754623560 CA33941641 |
35 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs754623560 CA1280705 |
35 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767923324 CA1280703 |
36 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA343680556 rs1451225874 |
37 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA343680560 rs1157707692 |
37 | A>P | No |
ClinGen gnomAD |
|
|
CA33941630 rs979589941 |
38 | T>I | No |
ClinGen gnomAD |
|
|
rs1423166530 CA343680529 |
39 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343680523 rs774784407 |
40 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1280701 rs774784407 |
40 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1280700 rs764609314 |
42 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs943402537 CA33941604 |
42 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs911892646 CA33941572 |
43 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs78937321 CA1280699 |
44 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343680489 rs78937321 |
44 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343680487 rs1558008110 |
44 | A>V | No |
ClinGen Ensembl |
|
|
rs1280673834 CA343680475 |
45 | I>M | No |
ClinGen gnomAD |
|
|
CA343680476 rs1320383820 |
45 | I>S | No |
ClinGen gnomAD |
|
|
CA33941548 rs945484229 |
46 | P>S | No |
ClinGen TOPMed |
|
|
CA343680446 rs1340560682 |
48 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1340560682 CA343680450 |
48 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1297094250 CA343680440 |
49 | S>* | No |
ClinGen gnomAD |
|
|
CA343680441 rs1300498834 |
49 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1297094250 CA343680437 |
49 | S>L | No |
ClinGen gnomAD |
|
|
rs1300498834 CA343680442 |
49 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs746088897 CA1280696 |
50 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA343680413 rs1293843143 |
52 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776783982 CA1280695 |
52 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392153218 CA343680388 |
54 | P>A | No |
ClinGen gnomAD |
|
|
CA343680377 rs1172697013 |
55 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1376832224 CA343680372 |
55 | R>L | No |
ClinGen TOPMed |
|
|
CA343680379 rs1172697013 |
55 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1422995984 CA343680363 |
56 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1422995984 CA343680360 |
56 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1422995984 CA343680362 |
56 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1280694 rs566853974 |
57 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA33941517 rs957974915 |
58 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA33941514 rs779314833 |
59 | G>A | No |
ClinGen Ensembl |
|
|
CA343680326 rs1464317298 |
61 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 62 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170054856 CA343680319 |
63 | R>G | No |
ClinGen TOPMed |
|
|
CA343680317 rs1467438689 |
63 | R>Q | No |
ClinGen gnomAD |
|
|
rs1018935200 CA33941503 |
65 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1280690 rs758437714 |
66 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1280688 rs778459641 |
67 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1280687 rs188196867 |
68 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1280686 rs753467140 |
68 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343680288 rs753467140 |
68 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188196867 CA33941462 |
68 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1385916662 CA343680285 |
69 | R>Q | No |
ClinGen gnomAD |
|
|
rs1391990143 CA343680280 |
70 | L>F | No |
ClinGen gnomAD |
|
|
rs763054593 CA1280685 |
71 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA33941453 rs763054593 |
71 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1024659138 COSM3764134 CA33941436 |
72 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1280683 rs751954188 |
72 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1280684 rs751954188 |
72 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1571365146 CA343680264 |
73 | L>P | No |
ClinGen Ensembl |
|
|
CA1280679 rs765353570 |
75 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343680232 rs1240395899 |
76 | A>D | No |
ClinGen gnomAD |
|
|
CA1280678 rs759537299 |
77 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA33941390 rs898417828 |
77 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 78 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195046522 CA343680156 |
80 | D>E | No |
ClinGen TOPMed |
|
|
CA343680142 rs1457657178 |
81 | T>M | No |
ClinGen gnomAD |
|
|
CA1280674 rs773107169 |
82 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs772037310 CA1280673 |
85 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748096896 CA1280672 |
86 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233094369 CA343680056 |
87 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343680057 rs1233094369 |
87 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1368419471 CA343680031 |
88 | A>E | No |
ClinGen gnomAD |
|
|
CA1280670 rs13373887 |
89 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778724547 CA1280671 |
89 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397756059 CA343679972 CA343679973 |
91 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1280662 rs199811188 |
91 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748773889 CA1280663 |
91 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206868429 CA343679969 |
92 | P>S | No |
ClinGen TOPMed |
|
|
rs1206868429 CA343679971 |
92 | P>T | No |
ClinGen TOPMed |
|
|
rs946843409 CA33941256 |
93 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343679947 rs1439509213 |
96 | V>G | No |
ClinGen gnomAD |
|
|
rs755734212 CA1280659 |
97 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1280658 rs750125299 |
98 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280657 rs200608725 |
98 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343679936 rs750125299 |
98 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280656 rs758828102 |
99 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA343679889 rs1345225332 |
100 | E>* | No |
ClinGen gnomAD |
|
|
CA343679866 rs1287742912 |
101 | E>* | No |
ClinGen gnomAD |
|
|
rs1275923496 CA343679841 |
102 | E>* | No |
ClinGen gnomAD |
|
|
rs926485642 CA33941237 |
102 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA343679824 rs1349643453 |
103 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1280655 COSM900742 rs184524719 |
103 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1341057842 CA343679773 |
105 | P>H | No |
ClinGen gnomAD |
|
|
CA343679777 rs1450106707 |
105 | P>S | No |
ClinGen gnomAD |
|
|
CA1280653 rs759610213 |
107 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280651 rs766518271 |
109 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280649 rs539399750 |
110 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1359210204 CA343679678 |
110 | C>R | No |
ClinGen TOPMed |
|
|
CA343679671 rs1406227404 |
110 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1280650 rs539399750 |
110 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs118006242 CA1280648 |
112 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA1280646 rs118006242 |
112 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA1280645 rs761718095 |
113 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280644 rs774298992 |
113 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA343679508 rs774298992 |
113 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA33941130 rs761718095 |
113 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368415485 CA343679502 |
114 | M>L | No |
ClinGen gnomAD |
|
|
CA1280642 rs149567583 |
115 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343679460 CA1280641 rs749288681 |
116 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1280640 rs372362749 |
117 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1280639 rs769351540 |
117 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280638 rs745515658 |
118 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA33941097 rs868424677 |
119 | R>W | No |
ClinGen Ensembl |
|
|
CA343679320 rs1571364823 |
120 | D>G | No |
ClinGen Ensembl |
|
|
rs1229821253 CA343679341 |
120 | D>N | No |
ClinGen gnomAD |
|
|
rs1356888881 CA343679293 |
121 | E>K | No |
ClinGen gnomAD |
|
|
CA343679247 rs1231424367 |
122 | K>Q | No |
ClinGen gnomAD |
|
|
CA343679184 rs1571364804 |
123 | V>G | No |
ClinGen Ensembl |
|
|
rs780826375 CA1280637 |
123 | V>L | No |
ClinGen ExAC |
|
|
CA1280636 rs758703489 |
124 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343678993 rs1430278523 |
128 | D>V | No |
ClinGen gnomAD |
|
|
COSM900741 CA343678985 rs1309252240 |
129 | E>K | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1309252240 CA343678980 |
129 | E>Q | No |
ClinGen TOPMed |
|
|
rs1370724836 CA343678917 |
130 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343678910 rs1370724836 |
130 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1280635 rs753023148 |
132 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1325876958 CA343678817 |
132 | Q>H | No |
ClinGen gnomAD |
|
|
CA343678856 rs1255526747 |
132 | Q>R | No |
ClinGen TOPMed |
|
|
CA343678804 rs1406342026 |
133 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779432578 CA1280634 |
134 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1278480093 CA343677284 |
136 | A>S | No |
ClinGen gnomAD |
|
|
rs994480372 CA33940570 |
139 | A>S | No |
ClinGen TOPMed |
|
|
CA1280605 rs368562982 |
141 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222564113 CA343677042 |
142 | V>I | No |
ClinGen gnomAD |
|
|
CA1280602 rs775348899 |
144 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs143585560 CA1280601 |
145 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1280600 rs759006062 |
145 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA343676906 rs1310667930 |
146 | Y>F | No |
ClinGen gnomAD |
|
|
rs142010218 CA1280599 |
147 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770475914 CA1280598 |
148 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA33940532 rs1017329043 |
151 | L>F | No |
ClinGen TOPMed |
|
|
rs772981454 CA1280596 |
158 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs562441917 CA1280594 |
166 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1280593 rs749689368 |
167 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219059677 CA343676219 |
169 | F>S | No |
ClinGen gnomAD |
|
|
rs550468850 CA343676153 |
172 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343676092 rs1238541791 |
174 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 179 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280590 rs374471051 |
179 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343675960 rs1350758730 |
179 | F>L | No |
ClinGen gnomAD |
|
|
rs1314106504 CA343675937 |
180 | V>L | No |
ClinGen gnomAD |
|
|
CA343675825 rs1290966478 |
182 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343675770 rs1401456935 |
183 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1284334121 CA343675760 |
184 | V>I | No |
ClinGen Ensembl |
|
|
CA1280571 rs770342565 |
186 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1172849679 CA343671876 |
190 | P>T | No |
ClinGen gnomAD |
|
|
COSM677698 rs1462589736 CA343671817 |
191 | Y>C | lung Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA343671800 rs746372894 |
192 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs746372894 CA1280570 |
192 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1191277587 CA343671772 |
193 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA33934318 rs370485475 |
194 | S>L | No |
ClinGen ESP TOPMed |
|
|
CA343671732 rs1430360456 |
194 | S>P | No |
ClinGen TOPMed |
|
|
CA33934312 rs940637936 |
195 | S>* | No |
ClinGen TOPMed |
|
|
rs781765952 CA1280569 |
196 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs367560408 CA1280567 |
197 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM900739 rs374803869 CA1280566 |
197 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1339433332 CA343671595 |
199 | K>E | No |
ClinGen gnomAD |
|
|
rs758614640 CA1280564 |
200 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA33934267 rs541094989 |
202 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA33934265 rs984694728 |
204 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1439924558 CA343671448 |
206 | E>K | No |
ClinGen gnomAD |
|
|
CA343671398 rs1333255939 |
207 | P>L | No |
ClinGen gnomAD |
|
|
CA343671415 rs1368647803 |
207 | P>T | No |
ClinGen gnomAD |
|
|
CA1280562 rs778663020 |
208 | F>L | No |
ClinGen ExAC |
|
|
rs1391947953 CA343671361 |
208 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754830226 CA1280560 |
212 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1467712995 CA343671282 |
212 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1280558 rs766365262 |
213 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs766365262 CA343671262 |
213 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343671198 rs1183135565 |
214 | N>S | No |
ClinGen gnomAD |
|
|
rs1382594969 CA343671205 |
214 | N>Y | No |
ClinGen gnomAD |
|
|
rs1034014485 CA343671187 |
215 | I>N | No |
ClinGen gnomAD |
|
|
CA33934239 rs1034014485 |
215 | I>T | No |
ClinGen gnomAD |
|
|
CA1280557 rs760068360 |
216 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760068360 CA343671174 |
216 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343671096 rs1204909331 |
219 | L>F | No |
ClinGen TOPMed |
|
|
CA1280555 rs749919766 |
219 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280554 rs766988853 |
221 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280638063 CA343671032 |
222 | E>G | No |
ClinGen gnomAD |
|
|
CA343670894 rs1281132591 |
228 | E>Q | No |
ClinGen gnomAD |
|
|
CA343670854 rs1335099719 |
229 | H>Q | No |
ClinGen gnomAD |
|
|
rs1239678089 CA343670872 |
229 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA343670835 rs1326866231 |
230 | S>I | No |
ClinGen gnomAD |
|
|
CA343670842 rs1326866231 |
230 | S>N | No |
ClinGen gnomAD |
|
|
rs1397878742 CA343670814 |
231 | V>A | No |
ClinGen gnomAD |
|
|
CA33934223 rs750964404 |
232 | P>L | No |
ClinGen Ensembl |
|
|
CA343670756 rs1376245689 |
234 | L>W | No |
ClinGen gnomAD |
|
|
CA33934220 rs867050335 |
235 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1312466588 CA343670705 |
236 | V>L | No |
ClinGen gnomAD |
|
|
CA343670676 rs1433145391 |
237 | Y>* | No |
ClinGen gnomAD |
|
|
rs1449998438 CA343670668 |
238 | P>A | No |
ClinGen TOPMed |
|
|
CA343670660 rs1190493538 |
239 | V>I | No |
ClinGen TOPMed |
|
|
rs1382540923 CA343670620 |
241 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024494405 CA33934219 |
242 | Q>K | No |
ClinGen Ensembl |
|
|
CA33934212 rs200213712 |
242 | Q>R | No |
ClinGen Ensembl |
|
|
rs1010790780 CA33934206 |
243 | D>N | No |
ClinGen gnomAD |
|
|
CA33934204 rs1010790780 |
243 | D>Y | No |
ClinGen gnomAD |
|
|
rs370483470 CA1280552 |
246 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343670527 rs1362594630 |
247 | H>R | No |
ClinGen gnomAD |
|
|
CA343670508 rs1428787294 |
248 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs116513797 CA1280551 |
249 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475884539 CA343670426 |
252 | A>T | No |
ClinGen gnomAD |
|
|
rs759992708 CA1280550 |
252 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280549 rs776954009 |
255 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000399429 CA33934196 |
257 | R>G | No |
ClinGen Ensembl |
|
|
CA1280529 rs766701997 |
257 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343669219 rs1571355780 |
258 | F>V | No |
ClinGen Ensembl |
|
|
rs367637527 CA1280528 |
259 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343669132 rs1054494987 |
260 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201105717 CA33933788 |
260 | Y>F | No |
ClinGen Ensembl |
|
| rs768240806 | 260 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280527 rs773655887 |
260 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1168110128 CA343669129 |
261 | D>N | No |
ClinGen gnomAD |
|
|
rs796527833 CA33933776 |
262 | F>L | No |
ClinGen Ensembl |
|
|
CA343669002 rs1474910803 |
264 | W>C | No |
ClinGen gnomAD |
|
|
rs1466616825 CA343669031 |
264 | W>R | No |
ClinGen TOPMed |
|
|
CA343668979 rs1240138207 |
265 | R>K | No |
ClinGen gnomAD |
|
|
rs988999207 CA33933772 |
266 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343668907 rs1241882232 |
267 | W>C | No |
ClinGen TOPMed |
|
|
rs772070546 CA1280525 |
269 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs955779839 CA33933765 |
270 | E>K | No |
ClinGen Ensembl |
|
|
CA1280524 rs748237809 |
271 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 273 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280523 rs774520465 |
273 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1337703904 CA343668742 |
273 | C>S | No |
ClinGen gnomAD |
|
|
CA343668737 rs1306011471 |
273 | C>W | No |
ClinGen gnomAD |
|
|
CA1280522 rs768838268 |
274 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA343668716 rs1370851561 |
274 | E>D | No |
ClinGen gnomAD |
|
|
CA343668725 rs768838268 |
274 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs749525376 CA1280521 |
275 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs926124936 CA33933752 |
280 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343668549 rs1408938122 |
282 | E>G | No |
ClinGen gnomAD |
|
|
rs1474702893 CA343668537 |
283 | R>G | No |
ClinGen TOPMed |
|
|
rs978874738 COSM1336987 CA33933749 |
283 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs978874738 CA343668532 |
283 | R>K | No |
ClinGen gnomAD |
|
|
CA343668495 rs1571355673 |
285 | N>Y | No |
ClinGen Ensembl |
|
|
CA33933665 rs965799484 |
287 | W>* | No |
ClinGen Ensembl |
|
|
rs762350684 CA1280505 |
287 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375221361 CA1280504 |
290 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs143546680 CA343668336 |
291 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1280503 rs143546680 |
291 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1280502 rs143546680 |
291 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201970145 CA1280500 |
292 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200175647 CA1280501 |
292 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004714258 CA33933631 |
293 | G>R | No |
ClinGen Ensembl |
|
|
CA343668281 rs140080396 |
295 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1280499 rs140080396 |
295 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343668266 rs1291589496 |
296 | P>S | No |
ClinGen gnomAD |
|
|
CA343668248 rs1176648719 |
297 | G>D | No |
ClinGen gnomAD |
|
|
rs763799158 CA33933592 |
298 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280498 rs763799158 |
298 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757228734 CA1280497 |
299 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM900737 CA1280495 rs750935317 |
300 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1278550543 CA343668230 |
300 | A>V | No |
ClinGen gnomAD |
|
|
rs201527565 CA1280494 |
301 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764808548 CA1280492 |
302 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280491 rs756449151 |
302 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs771224611 | 306 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558002735 CA343668190 |
306 | T>S | No |
ClinGen Ensembl |
|
|
CA343668185 rs1294665844 |
307 | L>S | No |
ClinGen gnomAD |
|
|
CA1280488 rs767920363 |
308 | E>G | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752130788 CA1280486 |
311 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764095688 CA1280485 |
312 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280482 rs556978585 COSM900736 |
314 | R>C | kidney endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA343668135 rs556978585 |
314 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200451412 CA1280481 |
314 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1280479 rs759840752 COSM170693 |
316 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776543698 CA1280478 |
317 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1280476 rs143457159 |
318 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 319 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260565692 CA343668108 |
319 | E>K | No |
ClinGen gnomAD |
|
|
CA1280475 rs777853985 |
320 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1337594644 CA343668071 |
321 | Q>H | No |
ClinGen gnomAD |
|
|
rs925677666 CA33933504 |
323 | N>D | No |
ClinGen Ensembl |
|
|
rs747631453 CA1280473 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1280472 rs778585999 |
328 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343667857 rs1354390246 |
330 | A>E | No |
ClinGen gnomAD |
|
|
CA33933466 rs1001514484 |
332 | E>G | No |
ClinGen TOPMed |
|
|
rs754567364 CA1280471 |
332 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1280470 rs79155179 |
334 | V>G | No |
ClinGen ExAC gnomAD |
|
| rs756742767 | 339 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33933458 rs373686225 |
339 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs370858193 CA33933449 |
340 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA1280468 rs932846889 |
340 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343667540 rs1288135126 |
341 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280466 rs781537173 |
346 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343667409 rs1449781728 |
347 | C>S | No |
ClinGen TOPMed |
|
|
rs757626990 CA343667326 |
352 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs752005780 CA1280464 |
352 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs757626990 CA1280465 |
352 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1280463 rs764607458 |
355 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1014320010 CA33933423 |
356 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs12568867 CA1280462 |
357 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369915192 CA343667221 |
357 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369915192 CA1280461 |
357 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765404701 CA1280460 |
358 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343667209 rs1261391291 |
358 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1280459 rs549308005 |
359 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA343667192 rs777059000 |
359 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1280458 COSM1246654 rs777059000 |
359 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA343664821 rs1431652081 |
360 | V>A | No |
ClinGen gnomAD |
|
|
CA1280437 rs760503639 |
360 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs141386906 CA1280436 |
361 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1363836414 CA343664815 |
361 | H>R | No |
ClinGen TOPMed |
|
|
rs761654302 CA1280434 |
362 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA343664798 rs1480725940 |
363 | P>S | No |
ClinGen gnomAD |
|
|
CA33926777 rs796103745 |
364 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs148270884 CA1280431 |
368 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1280432 rs148270884 |
368 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148270884 CA343664694 |
368 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775084722 CA1280429 |
371 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280427 rs141913952 COSM339077 |
371 | R>H | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1280428 rs141913952 |
371 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775084722 CA1280430 |
371 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33926739 rs941576399 |
372 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777984279 CA1280426 |
372 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA343664588 rs1306385901 |
373 | K>R | No |
ClinGen gnomAD |
|
|
rs1250556497 CA343664560 |
374 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1250556497 CA343664554 |
374 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758864049 CA1280425 |
376 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481312446 CA343664378 |
381 | T>S | No |
ClinGen gnomAD |
|
|
rs960914055 CA33926678 |
382 | I>V | No |
ClinGen TOPMed |
|
|
CA1280422 rs74129625 |
384 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs74129625 CA343664292 |
384 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343664223 rs1482091794 |
387 | A>S | No |
ClinGen TOPMed |
|
|
rs189165579 CA33926667 |
389 | M>V | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 390 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199485121 CA343664156 |
390 | M>V | No |
ClinGen TOPMed |
|
|
CA1280401 rs756270665 |
395 | I>L | No |
ClinGen ExAC |
|
|
rs1475096977 COSM328938 CA343688445 |
395 | I>M | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA343688442 rs1263661648 |
396 | K>Q | No |
ClinGen gnomAD |
|
|
rs1205638047 CA343688432 |
396 | K>R | No |
ClinGen gnomAD |
|
|
rs143615282 CA343688359 |
402 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1280398 rs143615282 |
402 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751339144 CA1280397 |
403 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs764660226 CA1280392 |
407 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764660226 CA1280393 |
407 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280390 rs776094227 |
407 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764660226 CA1280394 |
407 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280389 rs770644690 |
409 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs760282980 CA1280387 |
417 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA343687999 rs760282980 |
417 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA343687984 rs1162274206 |
417 | C>Y | No |
ClinGen gnomAD |
|
|
rs774754020 CA343687944 |
418 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243561444 CA343687889 |
420 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280384 rs780724511 |
421 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780724511 CA1280383 |
421 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280385 rs140008049 |
421 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs970541760 CA33951147 |
422 | T>I | No |
ClinGen gnomAD |
|
|
CA33951146 rs148533601 |
424 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769949459 CA1280382 |
428 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745992436 CA1280381 |
432 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1280380 rs144570390 |
434 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147211432 CA1280379 |
434 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1280378 rs751789664 |
435 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751789664 CA343687508 |
435 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446605529 CA343687400 |
439 | T>I | No |
ClinGen TOPMed |
|
|
rs1446605529 CA343687401 |
439 | T>R | No |
ClinGen TOPMed |
|
|
rs1271089256 CA343687406 |
439 | T>S | No |
ClinGen gnomAD |
|
|
CA343687383 rs1228171707 |
440 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 441 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280376 rs758191438 |
444 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33951093 rs996257272 |
444 | I>V | No |
ClinGen TOPMed |
|
|
rs1034875536 CA33951063 |
445 | K>E | No |
ClinGen Ensembl |
|
|
CA1280360 rs143434276 COSM369753 |
447 | V>A | lung endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1280358 rs777983657 |
449 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747964055 CA1280354 |
455 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778716120 CA1280353 |
457 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343686223 rs1189444461 |
458 | E>D | No |
ClinGen gnomAD |
|
|
rs1233584969 CA343686213 |
459 | P>L | No |
ClinGen gnomAD |
|
|
rs754919031 CA1280352 |
459 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754919031 CA33950113 |
459 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181728953 CA343686201 |
460 | S>F | No |
ClinGen gnomAD |
|
|
rs753774714 CA1280351 |
461 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765850573 CA1280350 |
461 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343686195 rs765850573 |
461 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213784357 CA343686158 |
464 | F>I | No |
ClinGen Ensembl |
|
|
CA343686141 rs556523444 |
465 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556523444 CA1280349 |
465 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1277081219 CA343686124 |
466 | V>E | No |
ClinGen gnomAD |
|
|
rs767313169 CA1280347 |
470 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1280346 rs201932234 |
471 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775976019 CA1280344 |
472 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571334674 CA343686013 |
475 | M>T | No |
ClinGen Ensembl |
|
|
rs765580510 CA1280343 |
476 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 476 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173856466 CA343685950 |
480 | I>T | No |
ClinGen gnomAD |
|
|
rs375000802 CA1280342 |
480 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1280340 rs747113199 |
482 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747113199 CA1280339 |
482 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 482 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158532886 CA343685924 |
482 | Q>R | No |
ClinGen gnomAD |
|
|
rs570850236 CA1280338 |
483 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1280337 rs372701767 |
484 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343685882 rs1483114814 |
485 | V>I | No |
ClinGen gnomAD |
|
|
rs1297456555 CA343685860 |
486 | D>N | No |
ClinGen TOPMed |
|
|
CA1280336 rs748415564 |
487 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs778662886 CA1280335 |
488 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1280332 rs369569661 |
489 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557988568 CA343685757 |
491 | V>A | No |
ClinGen Ensembl |
|
|
rs12138972 CA1280331 VAR_031836 |
491 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749927044 CA1280330 |
495 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1280328 rs756957684 |
496 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs767186166 CA1280329 |
496 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280326 rs765573920 |
498 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1280327 rs751325803 |
498 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs199777775 CA33949967 |
501 | C>R | No |
ClinGen Ensembl |
|
|
rs1296371010 CA343685569 |
502 | I>V | No |
ClinGen TOPMed |
|
|
rs1389312258 CA343685523 |
504 | K>T | No |
ClinGen gnomAD |
|
|
CA1280324 rs372726761 |
505 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1455679599 CA343685432 |
506 | E>D | No |
ClinGen gnomAD |
|
|
CA1280323 rs766823322 |
507 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773253796 CA1280321 CA1280322 |
509 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423849511 CA343685332 |
510 | V>L | No |
ClinGen gnomAD |
|
|
rs762720953 CA33949958 |
511 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA343685287 rs1423525892 |
512 | V>L | No |
ClinGen gnomAD |
|
|
rs1465712531 CA343685203 |
516 | A>T | No |
ClinGen gnomAD |
|
|
CA1280318 rs547844742 |
519 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 520 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200202390 CA1280316 |
521 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200202390 CA1280315 |
521 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779939923 CA1280314 |
522 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs1274581842 CA343685057 |
523 | S>C | No |
ClinGen gnomAD |
|
|
CA1280311 rs769836879 |
524 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs745862706 CA1280310 |
526 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1198399 rs372931332 CA1280306 |
528 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA343684925 rs1319779231 |
528 | A>V | No |
ClinGen gnomAD |
|
|
rs777309876 CA1280305 |
529 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1320710413 CA343684695 |
530 | G>C | No |
ClinGen gnomAD |
|
|
rs753928375 CA33949137 |
530 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1280287 rs753928375 |
530 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA343684683 rs1557988125 |
531 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA33949130 rs956925149 |
532 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1280286 rs745736171 |
534 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA343684539 rs1480503703 |
536 | Y>C | No |
ClinGen TOPMed |
|
|
rs866143530 CA343684514 |
537 | P>A | No |
ClinGen gnomAD |
|
|
CA33949113 rs866143530 |
537 | P>S | No |
ClinGen gnomAD |
|
|
CA343684428 rs1432072996 |
539 | S>R | No |
ClinGen gnomAD |
|
|
CA343684405 rs1183895836 |
540 | I>K | No |
ClinGen gnomAD |
|
|
rs371451712 CA1280284 |
540 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343684401 rs1183895836 |
540 | I>T | No |
ClinGen gnomAD |
|
|
CA33949089 rs371451712 |
540 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746529479 CA1280283 |
542 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1280282 rs777379621 |
544 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 546 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346911153 CA343684179 |
547 | E>D | No |
ClinGen gnomAD |
|
|
CA1280279 rs780391136 |
549 | H>Y | No |
ClinGen ExAC |
|
|
CA343684074 rs1256493275 |
550 | H>R | No |
ClinGen gnomAD |
|
|
rs1571333862 CA343684060 |
551 | C>R | No |
ClinGen Ensembl |
|
|
rs750882457 CA1280277 |
552 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370479425 CA1280278 |
552 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343683997 rs143142615 |
553 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1280276 rs768044843 |
553 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764297420 CA1280274 |
554 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764297420 CA1280273 |
554 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424800790 CA343683944 |
555 | R>S | No |
ClinGen gnomAD |
|
|
CA343683878 rs1416980905 |
558 | N>K | No |
ClinGen gnomAD |
|
|
CA343683867 rs528204098 |
559 | S>I | No |
ClinGen gnomAD |
|
|
CA33948937 rs528204098 |
559 | S>T | No |
ClinGen gnomAD |
|
|
rs763085527 CA1280272 |
561 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs775788864 CA1280271 |
562 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375364989 CA343683780 |
565 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1375364989 CA343683779 |
565 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769657823 CA1280270 |
567 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1379562148 CA343683749 |
568 | N>D | No |
ClinGen TOPMed |
|
|
CA343683747 rs1379562148 |
568 | N>Y | No |
ClinGen TOPMed |
|
|
CA343683724 rs1472686654 |
569 | M>I | No |
ClinGen gnomAD |
|
|
rs759423888 CA1280269 |
570 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1383091060 CA343682247 |
571 | V>G | No |
ClinGen TOPMed |
|
|
rs899737123 CA33946952 |
572 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1377390078 CA343682220 |
572 | L>P | No |
ClinGen TOPMed |
|
|
CA343682175 rs1412987551 |
574 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765585298 CA1280253 |
575 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343682165 rs1312864055 |
575 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 575 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343682058 rs1241636208 |
579 | M>L | No |
ClinGen TOPMed |
|
|
rs943739293 CA33946938 |
581 | N>D | No |
ClinGen gnomAD |
|
|
CA343682012 rs1230175325 |
581 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759875717 CA343681929 |
583 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1278092544 CA343681894 |
584 | I>S | No |
ClinGen TOPMed |
|
|
CA1280251 rs371888372 |
585 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367845649 CA343681819 |
586 | S>G | No |
ClinGen gnomAD |
|
|
rs377506931 CA1280250 |
586 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 588 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280248 rs773204585 |
590 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1280249 rs141404677 |
590 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 593 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406689507 CA343681696 |
593 | S>T | No |
ClinGen gnomAD |
|
|
rs1162321867 CA343681608 |
595 | L>F | No |
ClinGen gnomAD |
|
|
rs747726126 CA1280245 |
597 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771423171 CA343681535 |
597 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1280246 rs771423171 |
597 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33946889 rs756269852 |
598 | M>T | No |
ClinGen gnomAD |
|
|
rs773892245 CA1280244 |
598 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439428912 CA343681494 |
599 | E>K | No |
ClinGen TOPMed |
|
|
rs768275874 CA1280243 |
602 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867098890 CA343681447 |
602 | F>L | No |
ClinGen TOPMed |
|
|
CA33946886 rs867098890 |
602 | F>V | No |
ClinGen TOPMed |
|
|
rs1208345335 CA343681370 |
604 | V>A | No |
ClinGen gnomAD |
|
|
CA1280239 COSM3418462 rs757649009 |
604 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs747419004 CA1280238 |
605 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1280237 rs778369418 |
606 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs920134006 CA33946873 |
607 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs920134006 CA33946867 |
607 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758367819 CA1280236 |
608 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs758367819 CA343681274 |
608 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267853475 CA343681256 |
609 | L>P | No |
ClinGen gnomAD |
|
|
rs765453440 CA1280234 |
610 | N>D | No |
ClinGen ExAC |
|
|
CA343681235 rs1331225153 |
610 | N>K | No |
ClinGen gnomAD |
|
|
rs1322463998 CA343681212 |
612 | R>G | No |
ClinGen gnomAD |
|
|
rs755233170 CA1280233 |
613 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755233170 CA343681192 |
613 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372109424 CA343681178 |
613 | A>V | No |
ClinGen gnomAD |
|
|
rs1335591045 CA343681137 |
617 | D>N | No |
ClinGen TOPMed |
|
|
rs1335591045 CA343681131 |
617 | D>Y | No |
ClinGen TOPMed |
|
|
rs754179442 CA1280232 |
618 | K>* | No |
ClinGen ExAC |
|
|
rs113343719 CA1280230 |
619 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 620 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 620 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343680991 rs1428975647 |
621 | D>E | No |
ClinGen gnomAD |
|
|
rs1305253381 CA343681004 |
621 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 623 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343680921 rs1388284014 |
624 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1232944236 CA343680918 |
624 | L>H | No |
ClinGen TOPMed |
|
|
CA343680895 rs1192891831 |
625 | F>S | No |
ClinGen gnomAD |
|
|
CA343680840 rs1246270586 |
627 | V>A | No |
ClinGen gnomAD |
|
|
CA343680847 rs1478384500 |
627 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 627 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280229 rs760531461 |
628 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3943183 CA343680772 rs1428481898 |
629 | Q>* | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs772972712 CA1280228 |
629 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767460692 CA1280227 |
632 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 633 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1280225 rs368375651 |
633 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761707289 CA1280226 |
633 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343680637 rs1220366791 |
634 | E>D | No |
ClinGen gnomAD |
|
|
rs1345110129 CA343680618 |
635 | M>I | No |
ClinGen gnomAD |
|
|
COSM900732 rs868267529 CA33946807 |
637 | N>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs768222617 CA1280224 |
638 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1000952287 CA33946795 |
639 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 639 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374261827 CA33946788 |
641 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1408960715 CA343680541 |
642 | A>P | No |
ClinGen gnomAD |
|
|
rs762530531 CA1280222 |
643 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1280219 rs905396561 |
644 | V>I | No |
ClinGen TOPMed |
|
|
CA33946763 rs968120704 |
646 | G>E | No |
ClinGen Ensembl |
|
|
rs907081539 CA33946767 |
646 | G>R | No |
ClinGen TOPMed |
|
|
rs778035927 CA1280217 |
647 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs778035927 CA1280216 |
647 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 647 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343680427 rs1473671065 |
649 | R>K | No |
ClinGen gnomAD |
|
|
rs1252769019 CA343680398 |
651 | V>D | No |
ClinGen gnomAD |
|
|
rs34431975 CA33946740 |
652 | T>P | No |
ClinGen Ensembl |
|
|
CA1280214 rs151261538 |
653 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9BZQ2
6 regional properties for Q9BZQ2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Parallel beta-helix repeat | 493 - 514 | IPR006626-1 |
| repeat | Parallel beta-helix repeat | 515 - 537 | IPR006626-2 |
| repeat | Parallel beta-helix repeat | 538 - 571 | IPR006626-3 |
| repeat | Parallel beta-helix repeat | 574 - 596 | IPR006626-4 |
| domain | Carbohydrate-binding/sugar hydrolysis domain | 376 - 536 | IPR006633 |
| domain | Right handed beta helix domain | 486 - 644 | IPR039448 |
Functions
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| meiotic spindle | A spindle that forms as part of meiosis. Several proteins, such as budding yeast Spo21p, fission yeast Spo2 and Spo13, and C. elegans mei-1, localize specifically to the meiotic spindle and are absent from the mitotic spindle. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| male meiosis cytokinesis | A cell cycle process that occurs as part of the male meiotic cell cycle and results in the division of the cytoplasm of a cell to produce two daughter cells. |
| positive regulation of chromosome organization | Any process that activates or increases the frequency, rate or extent of chromosome organization. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGSKASVP | ADSFRTISPD | RRGEKSASAV | SGDTAAATTL | KGTAIPVRSV | VASPRPVKGK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGRETARLRL | QRLPAAQAED | TGEAAAAAAE | EPLLPVPEDE | EEAQPLPPVC | VSRMRGMWRD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKVSLYCDEV | LQDCKAEDAD | EVMGKYLSEK | LKLKDKWLGV | WKTNPSVFFV | KYEEASIPFV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GILVEVTCEP | YQDSSSRFKV | TVSVAEPFSS | NIANIPRDLV | DEILEELEHS | VPLLEVYPVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GQDTDIHVIA | LALEVVRFFY | DFLWRDWDDE | ESCENYTALI | EERINLWCDI | QDGTIPGPIA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QRFKKTLEKY | KNKRVELIEY | QSNIKEDPSA | AEAVECWKKY | YEIVMLCGLL | KMWEDLRLRV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HGPFFPRILR | RRKGKREFGK | TITHIVAKMM | TTEMIKDLSS | DTLLQQHGDL | DLALDNCYSG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DTVIIFPGEY | QAANLALLTD | DIIIKGVGKR | EEIMITSEPS | RDSFVVSKAD | NVKLMHLSLI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QQGTVDGIVV | VESGHMTLEN | CILKCEGTGV | CVLTGAALTI | TDSEITGAQG | AGVELYPGSI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AILERNEIHH | CNNLRTSNSS | KSTLGGVNMK | VLPAPKLKMT | NNHIYSNKGY | GVSILQPMEQ |
| 610 | 620 | 630 | 640 | 650 | |
| FFIVAEEALN | KRASSGDKKD | DKMLFKVMQN | LNLEMNNNKI | EANVKGDIRI | VTS |