Q9H173
PR
Gene name |
SIL1 (UNQ545/PRO836) |
Protein name |
Nucleotide exchange factor SIL1 |
Names |
BiP-associated protein, BAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64374 |
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
5 structures for Q9H173
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6LBN | X-ray | 290 A | A/B | 452-461 | PDB |
| 6LEY | X-ray | 239 A | A/B | 452-461 | PDB |
| 8PQL | EM | 376 A | E | 443-461 | PDB |
| 8Q7R | EM | 371 A | F | 442-461 | PDB |
| AF-Q9H173-F1 | Predicted | AlphaFoldDB |
353 variants for Q9H173
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000175938 CA241793 RCV001852162 rs759591537 |
35 | L>V | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3432674 RCV000521122 RCV002525184 rs185697854 |
48 | T>P | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000963846 CA3432672 rs144192049 RCV001153606 |
51 | T>I | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs115591710 CA3432667 RCV001083933 RCV000611008 RCV000417592 |
63 | D>E | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35581768 RCV000429738 RCV000601448 CA3432650 VAR_034495 RCV000315098 |
80 | Q>R | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001258232 RCV000516209 rs149242794 CA3432629 RCV000292216 |
92 | R>W | Marinesco-sjogren syndrome (mss) Marinesco-Sjögren syndrome X-linked intellectual disability-short stature-overweight syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002537968 RCV001287963 CA3432625 rs150892227 |
104 | L>V | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002525187 rs758512287 RCV002525188 RCV000520595 CA3432598 |
119 | L>V | Marinesco-Sjögren syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs115800498 RCV000388977 RCV000082152 CA149227 RCV000224693 |
123 | T>I | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000332102 rs61745568 CA3432593 RCV000241849 |
132 | K>Q | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002549822 rs142987777 CA3432591 RCV000992985 |
142 | A>P | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002525219 rs879437180 RCV000523674 CA128240861 |
200 | E>G | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3432541 RCV000998444 rs145709743 RCV003141921 |
208 | D>A | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001153508 rs545999438 CA3432506 RCV000516612 RCV000998443 |
242 | V>M | Variant assessed as Somatic; 0.0 impact. Marinesco-Sjögren syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002473040 RCV002476046 CA3432471 rs535287958 |
279 | T>M | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001262502 RCV001287965 rs1478296366 CA361137690 |
301 | P>L | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001871702 RCV001287962 CA3432413 RCV002541782 rs372399027 |
341 | T>M | Marinesco-Sjögren syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs377150029 RCV003117666 CA3432377 RCV000992983 |
346 | A>T | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA248870 rs73265454 RCV000872718 RCV000202671 |
347 | E>K | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000516420 rs563414935 CA3432371 RCV002527526 RCV002527527 |
363 | Q>P | Marinesco-Sjögren syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA128236517 RCV000516993 RCV001299249 rs1021273983 |
374 | W>R | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000224867 rs192255604 CA3432341 RCV001080695 RCV000376395 |
411 | R>H | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA223719 rs398124389 RCV000723710 RCV002514441 |
419 | G>S | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000728090 RCV001155989 rs761095369 CA3432330 |
428 | E>Q | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000082150 rs119456966 RCV000002745 CA223722 |
438 | Q>* | Marinesco-sjogren syndrome (mss) Marinesco-Sjögren syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000766477 RCV000373130 CA3432326 rs779649580 |
441 | E>K | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3432323 RCV000632077 RCV001079025 rs34214251 RCV000291218 |
451 | G>S | Marinesco-Sjögren syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA128724539 rs968023681 |
2 | A>S | No |
ClinGen Ensembl |
|
|
rs1160339915 CA361476919 |
3 | P>A | No |
ClinGen gnomAD |
|
|
rs748589483 CA3432707 |
4 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3432706 rs779390899 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370700427 CA361476869 |
11 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370700427 CA3432705 |
11 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561514954 CA128724538 |
15 | G>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1191304847 CA361476840 |
16 | M>L | No |
ClinGen gnomAD |
|
|
CA361476837 rs1487911034 |
16 | M>T | No |
ClinGen gnomAD |
|
|
CA3432704 rs749914019 |
20 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs751192330 CA3432701 |
24 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276673312 CA361476776 |
26 | F>L | No |
ClinGen gnomAD |
|
|
rs762842893 CA3432699 |
27 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3432697 rs765249454 |
28 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA361476754 rs1325621535 |
29 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361476684 rs1367858498 |
37 | E>A | No |
ClinGen gnomAD |
|
|
rs141419143 CA3432679 |
40 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141419143 CA3432680 |
40 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361476657 rs1462228352 |
41 | T>I | No |
ClinGen gnomAD |
|
|
CA3432677 rs146539320 |
42 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3432676 rs753735669 |
46 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs185697854 CA3432675 COSM1495989 |
48 | T>A | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773401167 CA3432673 |
48 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361476603 rs1356227171 |
49 | K>N | No |
ClinGen gnomAD |
|
|
rs948482286 CA128723890 |
52 | E>Q | No |
ClinGen Ensembl |
|
|
CA361476573 rs1581115947 |
54 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 55 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10622925 rs886059981 |
55 | E>G | No |
ClinGen Ensembl |
|
|
rs1308631441 CA361476558 |
56 | T>A | No |
ClinGen gnomAD |
|
|
CA361476556 rs1291429838 |
56 | T>I | No |
ClinGen gnomAD |
|
|
rs1330615960 CA361476534 |
59 | E>D | No |
ClinGen gnomAD |
|
|
rs749736520 CA3432669 |
59 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1403348127 CA361476524 |
61 | E>K | No |
ClinGen gnomAD |
|
|
CA3432668 rs201261974 |
62 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3432666 rs746486480 |
64 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777387984 CA3432665 |
64 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372506931 CA128723888 |
65 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA361476501 rs1470293930 |
65 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs147194912 CA3432663 |
66 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145095071 CA128723887 |
68 | E>D | No |
ClinGen ESP gnomAD |
|
|
rs1356542589 CA361476479 |
68 | E>V | No |
ClinGen gnomAD |
|
|
rs754827412 CA3432661 |
69 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432662 rs778797298 |
69 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361476472 rs1225281858 |
70 | F>L | No |
ClinGen gnomAD |
|
|
rs1581115834 CA361476462 |
71 | H>P | No |
ClinGen Ensembl |
|
|
rs1418193240 CA361476464 |
71 | H>Y | No |
ClinGen gnomAD |
|
|
rs201636421 CA3432658 |
72 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361476449 rs371005800 |
73 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA128723886 rs371005800 |
73 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361476444 rs1021668399 |
74 | H>P | No |
ClinGen gnomAD |
|
|
CA128723885 rs1021668399 |
74 | H>R | No |
ClinGen gnomAD |
|
|
CA3432654 rs751793085 |
75 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020037017 CA128723884 |
76 | W>* | No |
ClinGen TOPMed |
|
|
CA3432653 rs764374222 |
77 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs878859349 CA128723883 |
78 | A>G | No |
ClinGen Ensembl |
|
|
CA3432652 rs763221847 |
78 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3432651 rs369018006 |
80 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1410436479 CA361476362 |
84 | A>V | No |
ClinGen TOPMed |
|
|
rs763282699 CA361476361 |
85 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763282699 CA3432635 |
85 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128717159 rs770466067 |
86 | P>L | No |
ClinGen Ensembl |
|
|
CA3432634 rs752969589 |
86 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs147385591 CA3432633 |
87 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487175541 CA361476331 |
90 | H>R | No |
ClinGen gnomAD |
|
|
rs1461916800 RCV000992984 CA361476324 |
91 | V>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs201418882 CA3432630 |
91 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138414883 CA361476320 |
92 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138414883 CA3432628 |
92 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361476299 rs1224037934 |
96 | Q>E | No |
ClinGen TOPMed |
|
|
rs368830878 CA128717157 RCV000713299 CA361476294 |
96 | Q>H | No |
ClinGen ClinVar ESP dbSNP gnomAD |
|
| TCGA novel | 99 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768164857 CA3432627 |
102 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3432626 rs769589037 |
103 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432623 rs745725050 |
110 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA252369 rs119456965 |
111 | R>* | Marinesco-sjogren syndrome (mss) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA128717156 rs567676273 |
111 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3432622 rs567676273 COSM204821 |
111 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3432619 rs777868755 |
116 | G>S | No |
ClinGen ExAC |
|
|
CA3432617 rs141582676 |
117 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3432596 rs779186269 |
120 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439299117 CA361136284 |
121 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361136253 rs1179205265 |
125 | T>S | No |
ClinGen gnomAD |
|
|
rs1326426449 CA361136238 |
127 | T>I | No |
ClinGen TOPMed |
|
|
rs55660322 CA128250531 |
128 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs766881758 CA3432594 |
130 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA361136221 rs766881758 |
130 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361136224 rs1436886496 |
130 | D>N | No |
ClinGen TOPMed |
|
|
rs1436886496 CA361136222 |
130 | D>Y | No |
ClinGen TOPMed |
|
|
rs750982777 CA3432592 |
133 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1237374954 CA361136179 |
137 | K>E | No |
ClinGen gnomAD |
|
|
rs1307200441 CA361136147 |
141 | G>R | No |
ClinGen gnomAD |
|
|
CA3432589 rs530991274 |
144 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3432590 rs199707852 |
144 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764919628 CA3432588 |
145 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776366406 CA3432586 |
151 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761688927 CA361135441 |
153 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761688927 CA3432563 |
153 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774441811 CA275358 RCV000179525 |
154 | Q>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA361135425 rs1394405704 |
154 | Q>H | No |
ClinGen Ensembl |
|
|
CA3432562 rs768872692 |
155 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361135408 rs1175742325 |
156 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1262083075 CA361135363 |
159 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200516067 CA3432560 |
159 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361135354 rs1195109678 |
160 | L>F | No |
ClinGen gnomAD |
|
|
rs781449770 CA3432557 COSM1061484 |
162 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3432556 rs138300781 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1189066905 CA361135314 |
163 | P>L | No |
ClinGen Ensembl |
|
|
CA10622899 rs886059977 |
163 | P>S | No |
ClinGen gnomAD |
|
|
CA361135321 rs886059977 |
163 | P>T | No |
ClinGen gnomAD |
|
|
rs1360274307 CA361135304 |
164 | I>T | No |
ClinGen TOPMed |
|
|
rs1320329454 CA361135310 |
164 | I>V | No |
ClinGen gnomAD |
|
|
rs752025399 CA3432555 |
168 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs542048941 CA128240919 |
169 | K>T | No |
ClinGen 1000Genomes |
|
|
RCV001287964 rs1768669040 |
176 | V>A | No |
ClinVar dbSNP |
|
|
CA361135110 rs1166001558 |
179 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10604860 RCV000314243 rs767252723 |
180 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1373613382 CA361135083 |
182 | M>L | No |
ClinGen gnomAD |
|
|
CA361135073 rs1450813709 |
182 | M>R | No |
ClinGen Ensembl |
|
|
rs754486382 CA3432552 |
184 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442191306 CA361135025 |
185 | M>R | No |
ClinGen gnomAD |
|
|
rs1442191306 CA361135027 |
185 | M>T | No |
ClinGen gnomAD |
|
|
CA361135000 rs765997015 |
187 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs765997015 CA3432550 |
187 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201222730 CA3432551 |
187 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA361134987 rs1462420461 |
189 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361134985 rs1462420461 |
189 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750193554 CA3432548 |
190 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352713794 CA361134939 |
192 | F>V | No |
ClinGen TOPMed |
|
|
CA3432546 rs761754008 |
193 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774161130 CA3432545 |
197 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1459191392 CA361134858 |
199 | L>M | No |
ClinGen TOPMed |
|
|
CA361134849 rs879437180 |
200 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs768778736 CA3432544 |
200 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432543 rs763109593 |
205 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361134797 rs1422676640 |
208 | D>N | No |
ClinGen gnomAD |
|
|
CA3432540 rs746105286 |
209 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771210582 CA3432538 |
211 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448440159 CA361134767 |
212 | Y>C | No |
ClinGen TOPMed |
|
|
CA3432537 rs747479270 |
212 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs747479270 CA361134769 |
212 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA361134762 rs1328836835 |
213 | V>L | No |
ClinGen TOPMed |
|
|
CA361134743 rs1234696966 |
215 | Q>H | No |
ClinGen TOPMed |
|
|
CA3432535 rs758955215 |
215 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432518 rs538181924 |
216 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361134248 rs1490321324 |
216 | M>R | No |
ClinGen gnomAD |
|
|
rs150156151 CA3432517 |
218 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779482609 CA3432516 |
219 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745452168 CA3432514 |
220 | Q>E | No |
ClinGen ExAC |
|
|
CA3432512 rs751368645 |
225 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432511 rs751368645 |
225 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764011209 CA3432510 |
227 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1344657477 CA361134160 |
230 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1344657477 CA361134162 |
230 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs727504154 RCV000153952 CA234938 |
231 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3432509 rs758357497 |
231 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA361134150 rs1406700667 |
232 | I>F | No |
ClinGen gnomAD |
|
|
CA128237569 rs921440617 |
233 | N>D | No |
ClinGen TOPMed |
|
|
rs979530005 CA128237568 |
233 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361134136 rs1400908551 |
234 | G>E | No |
ClinGen gnomAD |
|
|
CA361134126 rs1191536481 |
236 | N>H | No |
ClinGen TOPMed |
|
|
rs919657646 CA128237563 |
236 | N>I | No |
ClinGen Ensembl |
|
|
rs1204909499 CA361134122 |
236 | N>K | No |
ClinGen TOPMed |
|
|
CA361134098 rs1409764034 |
240 | P>A | No |
ClinGen gnomAD |
|
|
rs1202145917 CA361134074 |
244 | E>Q | No |
ClinGen gnomAD |
|
|
rs766483008 CA3432504 |
245 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3432503 rs760991652 |
247 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361134040 rs1261437566 |
249 | V>M | No |
ClinGen gnomAD |
|
|
rs772439933 CA361134028 |
251 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772439933 CA3432501 |
251 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774835703 CA3432499 |
252 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361134020 rs1359839046 |
252 | A>V | No |
ClinGen gnomAD |
|
|
rs1430774125 CA361133998 |
256 | S>G | No |
ClinGen gnomAD |
|
|
rs1561802028 CA361137945 |
261 | Q>H | No |
ClinGen Ensembl |
|
|
CA3432478 rs145211892 |
262 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763545682 CA3432479 |
262 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3432477 rs770483534 |
264 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016026305 COSM177869 CA128240111 |
266 | E>K | large_intestine Variant assessed as Somatic; 4.653e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs202207368 CA361137912 |
267 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs202207368 CA3432475 |
267 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA361137903 rs1344307526 |
268 | G>A | No |
ClinGen gnomAD |
|
|
rs986797535 CA128240072 |
271 | Q>P | No |
ClinGen gnomAD |
|
|
rs986797535 CA361137887 |
271 | Q>R | No |
ClinGen gnomAD |
|
|
rs1373046440 CA361137863 |
275 | V>I | No |
ClinGen gnomAD |
|
|
CA128240054 rs914338669 |
279 | T>A | No |
ClinGen TOPMed |
|
|
CA361137839 rs535287958 |
279 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128240051 rs535287958 |
279 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361137840 rs914338669 |
279 | T>S | No |
ClinGen TOPMed |
|
|
CA3432469 rs753831763 |
281 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs201546394 CA3432467 |
282 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3432468 rs779932009 |
282 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs762060202 CA3432464 |
283 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3432463 rs764540895 |
287 | K>N | No |
ClinGen ExAC TOPMed |
|
| rs148940232 | 288 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249545493 CA361137785 |
288 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377086585 CA128239483 |
289 | V>F | No |
ClinGen ESP gnomAD |
|
|
CA3432446 rs781278931 |
291 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA361137740 rs1411241174 |
293 | L>P | No |
ClinGen TOPMed |
|
|
CA128239470 rs372178659 |
298 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs774070924 CA3432445 |
298 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175500644 CA361137693 |
301 | P>S | No |
ClinGen gnomAD |
|
|
CA361137685 rs1190963939 |
302 | Y>C | No |
ClinGen gnomAD |
|
|
CA3432443 rs764294128 |
304 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1190109793 CA361137667 |
305 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3432442 rs758782317 |
305 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432441 rs571107823 |
308 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760154020 CA3432439 |
311 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1580976121 CA361137626 |
311 | G>V | No |
ClinGen Ensembl |
|
|
rs760154020 CA361137630 |
311 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs767153408 CA3432437 |
312 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs761944688 CA128239423 |
312 | G>R | No |
ClinGen gnomAD |
|
|
rs767153408 CA361137622 |
312 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 313 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3432435 RCV000992986 rs374933348 |
313 | L>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
|
rs776731803 CA3432434 |
313 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994531380 CA128239377 |
315 | V>D | No |
ClinGen Ensembl |
|
|
rs749088725 CA3432433 |
315 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1036149274 CA128239357 |
316 | L>P | No |
ClinGen Ensembl |
|
|
rs1461481800 CA361137592 |
318 | T>N | No |
ClinGen gnomAD |
|
|
CA361137580 rs1279889703 |
320 | V>A | No |
ClinGen TOPMed |
|
|
CA361137575 rs1390242338 |
321 | Q>P | No |
ClinGen gnomAD |
|
|
rs1304428863 CA361137556 |
323 | K>N | No |
ClinGen gnomAD |
|
|
rs745826557 CA3432429 |
324 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1314431361 CA361137554 |
324 | G>S | No |
ClinGen TOPMed |
|
|
rs552535462 CA128239333 |
325 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA361137531 rs1460640092 |
327 | V>G | No |
ClinGen TOPMed |
|
|
CA361137535 rs1444420506 |
327 | V>M | No |
ClinGen gnomAD |
|
|
CA361137528 rs1248937363 |
328 | L>F | No |
ClinGen gnomAD |
|
|
rs537647261 CA3432426 |
329 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3432427 rs747120540 COSM1061476 |
329 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361137522 rs537647261 |
329 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3432424 rs753072490 |
330 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1061475 CA3432423 RCV000516678 rs765721225 |
331 | R>C | Variant assessed as Somatic; 5e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3432422 rs755486409 |
331 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361137512 rs755486409 |
331 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202053975 CA3432420 RCV000733535 |
332 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3432419 rs368008196 |
333 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361137486 rs794727978 |
336 | L>P | No |
ClinGen gnomAD |
|
|
RCV000180681 rs794727978 CA248220 |
336 | L>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs762543125 CA3432416 |
337 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432415 rs111292964 |
338 | D>N | Variant assessed as Somatic; 4.903e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1022340206 CA128239260 |
342 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs371686104 CA128239245 |
343 | K>E | No |
ClinGen ESP |
|
|
rs368189323 CA128239229 |
343 | K>M | No |
ClinGen ESP |
|
|
CA3432380 rs777267662 |
344 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377150029 CA3432378 |
346 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361136979 rs1201493559 |
356 | M>V | No |
ClinGen gnomAD |
|
|
CA3432374 rs368428884 |
359 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1220876490 CA361136937 |
362 | Q>* | No |
ClinGen gnomAD |
|
|
rs767548703 CA3432372 |
362 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767548703 CA361136935 |
362 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201560093 CA3432370 |
365 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3432369 rs543083009 |
365 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432367 rs775864418 |
367 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs372908895 CA3432368 |
367 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361136898 rs904855672 |
368 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361136897 rs904855672 |
368 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA128236540 rs904855672 |
368 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA128236536 rs1032140073 |
369 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
RCV000153951 rs727504153 CA234935 |
372 | G>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 378 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361136830 rs1241467365 |
378 | W>C | No |
ClinGen gnomAD |
|
|
rs1183235569 CA361136825 |
379 | C>S | No |
ClinGen gnomAD |
|
|
CA3432364 rs769367813 |
380 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369750441 CA128236507 |
382 | T>M | No |
ClinGen gnomAD |
|
|
rs1228445492 CA361136802 |
383 | A>T | No |
ClinGen gnomAD |
|
|
rs1580971848 CA361136792 |
384 | H>P | No |
ClinGen Ensembl |
|
|
rs1347608804 CA361136779 |
386 | L>P | No |
ClinGen gnomAD |
|
|
rs753439841 CA3432360 |
387 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3432356 rs199921583 |
390 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3432355 rs199921583 |
390 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1561799297 CA361136741 |
392 | D>E | No |
ClinGen Ensembl |
|
|
CA361136746 rs1309207896 |
392 | D>H | No |
ClinGen gnomAD |
|
|
CA361136739 rs1431633313 |
393 | A>S | No |
ClinGen gnomAD |
|
|
rs758831626 CA3432354 |
394 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432352 rs763199369 |
394 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432353 rs763199369 |
394 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1085307740 RCV000489081 CA361136714 |
397 | V>M | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000481013 rs1064797034 CA16618119 |
398 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3432349 rs746196289 |
399 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs886043087 RCV000315950 |
402 | G>missing | No |
ClinVar dbSNP |
|
|
CA128236373 rs1050490804 |
402 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3432348 rs777092280 |
402 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780630431 CA3432346 |
403 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA361136659 rs1580971669 |
407 | T>P | No |
ClinGen Ensembl |
|
|
CA361136651 RCV000513539 rs1205787396 COSM1061474 |
408 | C>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA3432344 rs754482108 |
409 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368201602 CA3432345 |
409 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3432342 rs142943842 |
411 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142943842 CA3432343 |
411 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142943842 CA361136635 |
411 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 412 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375241132 CA3432340 |
413 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3432339 rs138448654 |
413 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3432338 rs138448654 |
413 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361136621 rs1350262073 |
414 | Q>E | No |
ClinGen gnomAD |
|
|
CA361136603 rs1289464129 |
416 | P>S | No |
ClinGen gnomAD |
|
|
rs368867955 CA3432337 |
417 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202084756 CA3432336 |
418 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs398124389 CA128236294 |
419 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752866273 CA3432335 |
419 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA128236287 rs966935184 |
424 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1182791764 CA361136550 |
425 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3432332 rs776810332 |
426 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 426 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3432331 rs771297655 |
427 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA128236276 rs994932069 |
429 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1269238421 CA361136493 |
434 | S>N | No |
ClinGen gnomAD |
|
|
CA3432329 rs773697914 |
437 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772617071 CA3432328 |
439 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748716795 CA3432327 |
440 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1276784134 CA361136438 |
443 | E>K | No |
ClinGen TOPMed |
|
|
CA3432324 rs745549568 |
444 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1387626154 CA361136401 |
448 | E>* | No |
ClinGen gnomAD |
|
|
CA361136392 rs1159678013 |
449 | L>V | No |
ClinGen gnomAD |
|
|
rs751454866 CA3432320 |
453 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269138519 CA361136359 |
455 | S>C | No |
ClinGen gnomAD |
|
|
rs119456967 CA252373 |
457 | L>P | Marinesco-sjogren syndrome (mss) [Ensembl] | No |
ClinGen gnomAD |
|
rs1234618448 CA361136326 |
459 | E>D | No |
ClinGen gnomAD |
|
|
rs1314008437 CA361136319 |
461 | R>G | No |
ClinGen gnomAD |
|
|
rs1293602892 CA361136316 |
461 | R>T | No |
ClinGen gnomAD |
No associated diseases with Q9H173
1 regional properties for Q9H173
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FKBP-type peptidyl-prolyl cis-trans isomerase domain | 130 - 254 | IPR001179 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| adenyl-nucleotide exchange factor activity | Binds to and stimulates the hydrolysis and exchange of adenyl nucleotides by other proteins. |
| identical protein binding | Binding to an identical protein or proteins. |
| unfolded protein binding | Binding to an unfolded protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cotranslational protein targeting to membrane | The targeting of proteins to a membrane that occurs during translation. The transport of most secretory proteins, particularly those with more than 100 amino acids, into the endoplasmic reticulum lumen occurs in this manner, as does the import of some proteins into mitochondria. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38260 | FES1 | Hsp70 nucleotide exchange factor FES1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q32KV6 | SIL1 | Nucleotide exchange factor SIL1 | Bos taurus (Bovine) | PR |
| Q9EPK6 | Sil1 | Nucleotide exchange factor SIL1 | Mus musculus (Mouse) | PR |
| Q6P6S4 | Sil1 | Nucleotide exchange factor SIL1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPQSLPSSR | MAPLGMLLGL | LMAACFTFCL | SHQNLKEFAL | TNPEKSSTKE | TERKETKAEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELDAEVLEVF | HPTHEWQALQ | PGQAVPAGSH | VRLNLQTGER | EAKLQYEDKF | RNNLKGKRLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| INTNTYTSQD | LKSALAKFKE | GAEMESSKED | KARQAEVKRL | FRPIEELKKD | FDELNVVIET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DMQIMVRLIN | KFNSSSSSLE | EKIAALFDLE | YYVHQMDNAQ | DLLSFGGLQV | VINGLNSTEP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVKEYAAFVL | GAAFSSNPKV | QVEAIEGGAL | QKLLVILATE | QPLTAKKKVL | FALCSLLRHF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PYAQRQFLKL | GGLQVLRTLV | QEKGTEVLAV | RVVTLLYDLV | TEKMFAEEEA | ELTQEMSPEK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQQYRQVHLL | PGLWEQGWCE | ITAHLLALPE | HDAREKVLQT | LGVLLTTCRD | RYRQDPQLGR |
| 430 | 440 | 450 | 460 | ||
| TLASLQAEYQ | VLASLELQDG | EDEGYFQELL | GSVNSLLKEL | R |