Q14739
PR
Gene name |
LBR |
Protein name |
Delta(14)-sterol reductase LBR |
Names |
Delta-14-SR, 3-beta-hydroxysterol Delta (14)-reductase, C-14 sterol reductase, C14SR, Integral nuclear envelope inner membrane protein, LMN2R, Lamin-B receptor, Sterol C14-reductase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3930 |
EC number |
1.3.1.70: With NAD(+) or NADP(+) as acceptor |
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
2 structures for Q14739
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DIG | NMR | - | A | 1-55 | PDB |
| AF-Q14739-F1 | Predicted | AlphaFoldDB |
522 variants for Q14739
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000087265 RCV000087266 rs863223326 |
11 | V>missing | Greenberg dysplasia Pelger-Huët anomaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002059447 CA1417572 RCV000403170 rs200756121 |
33 | T>A | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369299493 RCV000280387 CA1417537 RCV001850542 RCV002522115 |
69 | S>F | Greenberg dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001250666 CA354084 RCV002284376 RCV000210455 rs869312905 VAR_081005 |
76 | R>missing | RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia Greenberg dysplasia SKPHA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_081005 rs869312905 |
76 | R>del | SKPHA [UniProt] | Yes |
UniProt dbSNP |
|
RCV001097085 CA1417525 rs758063579 |
85 | R>Q | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001102490 rs201003932 CA1417518 RCV000925383 RCV002544976 |
91 | P>S | Greenberg dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs11551873 CA1417516 RCV002534504 RCV000712171 |
95 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1417513 RCV001102489 rs769191817 RCV002556056 |
96 | R>Q | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001102487 CA38520312 rs138380180 |
118 | T>I | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
VAR_017841 CA120512 rs137852605 |
119 | P>L | Pelger-huet anomaly (pha) PHA [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001102484 CA38519355 rs201699817 |
124 | P>Q | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000712172 CA1417451 RCV000245894 RCV000287243 rs2230419 VAR_024318 RCV001730621 RCV001730622 |
154 | S>N | Reynolds syndrome Greenberg dysplasia Pelger-Huët anomaly [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199796274 CA1417434 RCV002067764 RCV001100544 |
188 | V>I | Greenberg dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1417432 RCV001100543 rs149760565 |
192 | L>R | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1417427 rs775167348 RCV000379289 |
203 | R>W | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000978365 RCV002279680 CA1417422 rs565288775 |
210 | G>V | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001824058 rs1558655670 |
218 | I>missing | RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001100542 rs760606703 CA1417399 |
219 | M>V | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886046053 CA10609356 RCV000322395 |
242 | N>D | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001100541 CA1417387 COSM222651 rs752316294 |
244 | P>S | Greenberg dysplasia skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001098730 CA1417385 RCV001319639 RCV003160623 rs140008883 |
248 | P>L | Greenberg dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200781118 RCV000264843 RCV002059445 CA1417384 |
249 | A>D | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002533805 RCV000757430 CA1417349 rs371750924 |
284 | T>M | Variant assessed as Somatic; 4.721e-05 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000202858 RCV001098727 CA249056 rs148541545 RCV000766850 |
289 | G>E | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2230422 RCV002278379 CA1417292 RCV002520450 RCV000893729 RCV000362903 |
300 | Y>C | Connective tissue disorder Greenberg dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2275601 RCV001096993 CA1417284 VAR_020209 RCV000888500 |
311 | T>A | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1417274 rs201654506 RCV000912380 RCV000276302 |
320 | H>R | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2096107960 RCV001096992 |
345 | Y>C | Greenberg dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001096991 RCV000010141 VAR_063811 RCV001349268 rs200180113 COSM1339247 CA120516 |
372 | R>C | Reynolds syndrome Greenberg dysplasia large_intestine REYNS [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313095 RCV001096990 RCV002557985 rs747250396 CA1417237 |
372 | R>H | Greenberg dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA344996417 RCV000515924 COSM904642 rs1236962991 RCV002527448 |
392 | G>R | Variant assessed as Somatic; 0.0 impact. Jeune thoracic dystrophy endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001102394 rs2096102304 |
406 | A>G | Greenberg dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001102393 rs534522882 CA1417195 |
413 | R>H | Greenberg dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1417189 rs138769892 RCV001102392 RCV000904916 |
430 | Y>C | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs531565954 RCV000335811 CA1417164 RCV001850541 |
443 | T>M | Greenberg dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000763831 RCV002279263 CA1417153 RCV000489302 RCV001824057 rs377110126 |
456 | L>V | Connective tissue disorder RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY Pelger-Huët anomaly [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs886037655 RCV000087267 |
468 | Y>missing | Greenberg dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10609355 RCV000297273 rs886046052 |
491 | I>V | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA344993270 RCV001836612 RCV000493673 rs1131691304 |
502 | R>G | RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000712169 rs78828796 CA1417119 RCV001100434 |
510 | A>T | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000516056 RCV000483832 CA1417117 RCV002526980 RCV001330715 rs754049402 |
512 | R>Q | Jeune thoracic dystrophy Regressive spondylometaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1417112 RCV001100432 rs372250618 RCV002276624 RCV001856366 |
521 | A>S | Connective tissue disorder Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001100433 rs372250618 |
521 | A>T | Greenberg dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000087262 RCV000010137 CA120510 rs387906416 |
534 | L>* | Greenberg dysplasia Pelger-huet anomaly (pha) Pelger-Huët anomaly [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1417079 rs80299691 RCV002277584 RCV000341618 RCV000224710 |
537 | S>A | Connective tissue disorder Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA150660 rs587777171 RCV000087263 VAR_081220 RCV001197988 |
547 | N>D | Greenberg dysplasia Pelger-Huët anomaly GRBGD; significant reduction in affinity for NADPH; loss of cholesterol biosynthesis; does not affect protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA353622 rs374343844 RCV000210471 RCV001330716 RCV001853373 RCV002284375 VAR_081006 RCV001250665 |
547 | N>S | Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY Reynolds syndrome Greenberg dysplasia SKPHA; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs202123513 RCV000284385 COSM904640 CA1417071 |
557 | A>V | Greenberg dysplasia Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA120514 VAR_017842 rs137852606 |
569 | P>R | Pelger-huet anomaly (pha) PHA [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000626821 rs1057516045 CA10654753 RCV000408612 |
583 | R>* | Pelger-huet anomaly (pha) Pelger-Huët anomaly [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000480212 CA1417041 RCV001836611 rs587777172 |
583 | R>L | RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_081221 rs587777172 RCV000087264 CA150662 |
583 | R>Q | Greenberg dysplasia Variant assessed as Somatic; 0.0 impact. GRBGD; significant reduction in affinity for NADPH; loss of cholesterol biosynthesis; does not affect protein stability [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_081007 CA1417039 RCV000656653 RCV001836859 rs573510559 RCV002534249 RCV003163026 |
586 | R>H | Greenberg dysplasia Regressive spondylometaphyseal dysplasia Pelger-Huët anomaly SKPHA; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs751127239 RCV001100431 CA1417028 |
598 | A>V | Greenberg dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA1417025 rs377008758 RCV001098640 |
605 | R>H | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs886046051 RCV000376521 CA10609352 |
610 | I>V | Greenberg dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1250803200 CA345003791 |
2 | P>L | No |
ClinGen gnomAD |
|
|
rs1250803200 CA345003802 |
2 | P>Q | No |
ClinGen gnomAD |
|
|
CA345003788 rs1481485031 |
3 | S>G | No |
ClinGen gnomAD |
|
|
rs746311894 CA1417592 |
3 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781666925 CA1417591 |
4 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA345003739 rs1274464371 |
4 | R>S | No |
ClinGen gnomAD |
|
|
CA1417589 rs764873714 |
8 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417588 rs764873714 |
8 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766117275 CA1417585 |
12 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1417583 rs773037367 |
14 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA38521798 RCV003074910 rs192681330 |
15 | R>* | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
rs767247360 CA1417581 |
15 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1411225492 CA345003421 |
16 | W>* | No |
ClinGen gnomAD |
|
|
CA1417580 rs188150385 |
17 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1417579 rs774206199 |
19 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345003375 rs1408381788 |
19 | S>N | No |
ClinGen gnomAD |
|
|
rs1190304682 CA345003338 |
20 | S>L | No |
ClinGen gnomAD |
|
|
CA345003330 rs1355280287 |
21 | L>F | No |
ClinGen gnomAD |
|
|
rs768631027 CA1417578 |
22 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA345003294 rs749442728 |
23 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417577 rs749442728 |
23 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464048602 CA345003256 |
25 | V>L | No |
ClinGen gnomAD |
|
|
rs1268100510 CA345003226 |
26 | E>G | No |
ClinGen gnomAD |
|
|
CA345003213 rs1214241760 |
27 | I>V | No |
ClinGen gnomAD |
|
|
CA1417573 rs149920625 |
31 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345003102 rs1382928751 |
32 | S>N | No |
ClinGen gnomAD |
|
|
rs747525564 CA1417571 |
34 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1417570 rs778289657 |
36 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345002998 rs1387958612 |
36 | L>P | No |
ClinGen gnomAD |
|
|
CA345002954 rs1042815153 |
38 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA38521712 rs555819295 |
38 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417568 rs555819295 |
38 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38521727 rs1042815153 |
38 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755810631 CA1417566 |
40 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs1320764205 CA345002904 |
41 | Y>C | No |
ClinGen gnomAD |
|
|
CA345002878 rs1249866637 |
42 | K>R | No |
ClinGen TOPMed |
|
|
CA345002847 rs1481655481 |
44 | G>R | No |
ClinGen TOPMed |
|
|
CA1417564 rs767302539 |
46 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs762108686 CA38521664 |
48 | E>K | No |
ClinGen gnomAD |
|
|
rs762108686 CA345002801 |
48 | E>Q | No |
ClinGen gnomAD |
|
|
CA345002763 rs1448407807 |
49 | L>V | No |
ClinGen gnomAD |
|
|
CA345002718 rs1177590790 |
51 | E>K | No |
ClinGen TOPMed |
|
|
CA38521662 rs920973479 |
52 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 52 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761536767 CA345002642 |
54 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs761536767 CA1417563 |
54 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345002101 rs1254466472 |
56 | P>S | No |
ClinGen TOPMed |
|
|
CA345002104 rs1254466472 |
56 | P>T | No |
ClinGen TOPMed |
|
|
CA1417543 rs763775687 |
60 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA38520468 TCGA novel rs924146540 |
63 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs765365854 CA1417541 |
65 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1417540 rs765365854 |
65 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1417538 rs776841930 |
66 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1393957671 CA345001946 |
67 | S>P | No |
ClinGen gnomAD |
|
|
CA38520448 rs369299493 |
69 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462087829 CA345001853 |
70 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA38520445 rs927660579 |
71 | S>F | No |
ClinGen TOPMed |
|
|
CA345001759 rs1367356844 |
72 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1417536 rs760953170 |
73 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1417535 rs773644529 |
73 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs978293896 CA38520439 |
74 | R>T | No |
ClinGen TOPMed |
|
|
CA1417534 RCV001337895 rs553554966 |
75 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345001671 rs553554966 |
75 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417533 rs755984972 |
75 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417532 rs749991297 |
76 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38520431 rs539965123 |
78 | S>R | No |
ClinGen 1000Genomes |
|
|
rs1363715209 CA345001573 COSM3943500 |
79 | R>* | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1417531 rs150911670 COSM904647 |
79 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345001518 rs1197749961 |
82 | S>* | No |
ClinGen gnomAD |
|
|
rs917913308 CA38520422 |
82 | S>P | No |
ClinGen TOPMed |
|
|
CA1417530 rs745448849 |
83 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345001506 rs745448849 |
83 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417529 rs780648797 |
83 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745448849 CA345001508 |
83 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751124930 CA1417527 |
84 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs751124930 CA345001433 |
84 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA345001430 rs1293819920 |
85 | R>G | No |
ClinGen gnomAD |
|
|
rs758063579 CA1417526 |
85 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38520411 rs1050905510 |
86 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754965227 CA345001379 |
88 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417522 rs754965227 |
88 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417521 rs754015696 |
89 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs766513028 CA1417520 |
89 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323238325 CA345001360 |
90 | P>Q | No |
ClinGen gnomAD |
|
|
CA1417517 rs773238630 |
91 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1170157436 CA345001331 |
92 | K>E | No |
ClinGen TOPMed |
|
|
rs1390400468 CA345001326 |
92 | K>T | No |
ClinGen TOPMed |
|
|
CA345001313 rs1575230183 |
93 | S>G | No |
ClinGen Ensembl |
|
|
CA345001296 rs1575230172 |
94 | A>P | No |
ClinGen Ensembl |
|
|
rs371428900 CA1417515 |
95 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345001272 rs769191817 |
96 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345001270 rs769191817 |
96 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776142084 CA1417511 |
97 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1417510 rs770390134 |
98 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345001241 rs1438793970 |
100 | A>P | No |
ClinGen TOPMed |
|
|
CA1417509 rs199784853 |
102 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA38520350 rs936963925 |
102 | H>Y | No |
ClinGen Ensembl |
|
|
CA345001151 rs1308755479 |
105 | D>E | No |
ClinGen gnomAD |
|
|
rs557489420 CA1417507 |
105 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1417506 rs200648839 |
106 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1417503 rs568717962 |
109 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778823931 CA1417505 |
109 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1417504 rs568717962 |
109 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345001050 rs1215691620 |
110 | R>T | No |
ClinGen gnomAD |
|
|
rs766568195 CA1417502 |
111 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1417501 rs756086565 |
111 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1344726084 CA345001019 |
112 | E>D | No |
ClinGen gnomAD |
|
|
CA345001030 rs1575230074 |
112 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252909629 CA345000931 |
121 | I>V | No |
ClinGen TOPMed |
|
|
rs1320847992 CA345000721 |
123 | K>E | No |
ClinGen gnomAD |
|
|
CA345000708 rs201699817 |
124 | P>R | No |
ClinGen TOPMed |
|
|
rs1383169780 CA345000709 |
124 | P>S | No |
ClinGen gnomAD |
|
|
rs1383169780 CA345000711 |
124 | P>T | No |
ClinGen gnomAD |
|
|
rs1375201039 CA345000694 |
126 | G>E | No |
ClinGen gnomAD |
|
|
CA38519351 rs922142347 |
126 | G>R | No |
ClinGen Ensembl |
|
|
CA345000695 rs1375201039 |
126 | G>V | No |
ClinGen gnomAD |
|
|
rs756072693 CA1417485 |
128 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775733565 CA38519325 |
132 | Y>C | No |
ClinGen TOPMed |
|
|
rs572094033 CA38519329 |
132 | Y>N | No |
ClinGen 1000Genomes |
|
|
rs553765740 CA1417482 |
133 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345000586 rs1485232908 |
135 | E>D | No |
ClinGen gnomAD |
|
|
rs763247153 CA1417479 |
138 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA1417480 rs763247153 |
138 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765734421 CA1417477 |
139 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760061264 CA1417476 |
139 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456627121 CA345000429 |
142 | N>S | No |
ClinGen TOPMed |
|
|
rs772650538 CA345000404 |
144 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417475 rs772650538 |
144 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355260895 CA345000382 |
145 | P>S | No |
ClinGen gnomAD |
|
|
rs1399788307 CA345000367 |
146 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 146 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311372717 CA345000349 |
147 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1417474 rs771566608 |
150 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA345000159 rs1324751698 |
152 | K>E | No |
ClinGen gnomAD |
|
|
rs1444198102 CA345000150 |
152 | K>R | No |
ClinGen TOPMed |
|
|
rs759988663 CA1417452 |
154 | S>G | No |
ClinGen ExAC TOPMed |
|
|
CA345000122 rs2230419 |
154 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345000124 rs2230419 |
154 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1417450 rs766946228 |
155 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776383202 CA38519135 |
156 | S>L | No |
ClinGen Ensembl |
|
|
CA1417449 rs536366620 |
157 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1298858382 CA345000093 |
157 | Q>P | No |
ClinGen TOPMed |
|
|
rs1298858382 CA345000094 |
157 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773992626 CA1417448 |
160 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA1417447 rs768462183 |
162 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1417446 rs144270114 |
163 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1417444 rs769591237 |
164 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA344999962 rs1219132368 |
164 | T>K | No |
ClinGen TOPMed |
|
|
rs1216043543 CA344999945 |
165 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs565648951 CA344999897 |
167 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1417443 rs565648951 |
167 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA38519117 rs556842901 |
167 | S>R | No |
ClinGen Ensembl |
|
|
CA344999900 rs565648951 |
167 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344999874 rs1457364634 |
168 | L>F | No |
ClinGen TOPMed |
|
|
VAR_052155 rs2230420 CA1417442 |
169 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1417441 rs375181558 |
169 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777823620 CA1417439 |
170 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs747160424 CA1417440 |
170 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344999806 rs923198022 |
172 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA38519099 rs923198022 |
172 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 174 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 174 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368849417 CA344999741 |
175 | V>I | No |
ClinGen gnomAD |
|
|
rs1458312127 CA344999718 |
176 | K>I | No |
ClinGen gnomAD |
|
|
rs1040197581 CA38519093 |
177 | L>V | No |
ClinGen TOPMed |
|
|
CA344999672 rs1344394948 |
180 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA344999673 rs1344394948 |
180 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344999652 rs1156597590 |
182 | S>A | No |
ClinGen gnomAD |
|
|
rs370431555 COSM3977099 CA1417437 |
182 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1417436 rs370431555 |
182 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408315845 CA344999624 |
184 | E>A | No |
ClinGen gnomAD |
|
|
rs1192593707 CA344999607 |
185 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA344999566 rs1196056286 |
189 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1417433 rs754133766 |
190 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417430 rs139988587 |
194 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200288588 CA1417428 |
200 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142747191 CA1417426 |
203 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1417425 rs776256289 |
204 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1417424 rs776256289 |
204 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 211 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1417421 rs531768440 |
211 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772068458 CA38519006 |
212 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417419 rs772068458 |
212 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773288901 CA1417420 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776545053 CA1417401 |
215 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs766101498 CA1417400 |
217 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417398 rs2230421 |
219 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201056244 CA38518553 |
220 | F>S | No |
ClinGen Ensembl |
|
|
rs572319132 CA1417396 |
223 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768982188 CA1417394 |
224 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1342326976 CA344998822 |
225 | F>S | No |
ClinGen TOPMed |
|
|
CA344998816 rs1317016745 |
226 | L>I | No |
ClinGen gnomAD |
|
|
rs1453350254 CA344998805 |
227 | F>L | No |
ClinGen gnomAD |
|
|
CA344998744 CA344998747 rs1164798368 |
232 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA344998740 rs1474443369 |
233 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749414790 CA1417393 |
233 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1417392 rs780571341 |
234 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770244436 CA1417391 |
234 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1248666020 CA344998718 |
235 | Q>* | No |
ClinGen gnomAD |
|
|
rs746399322 CA1417390 |
235 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417389 rs373221926 |
237 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272518792 CA344998662 |
240 | L>V | No |
ClinGen gnomAD |
|
|
CA1417388 rs757805606 |
243 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344998616 rs1237899420 |
244 | P>L | No |
ClinGen gnomAD |
|
|
CA1417386 rs778270986 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1217973085 CA344998601 |
246 | P>H | No |
ClinGen TOPMed |
|
|
CA344998536 COSM3804082 rs943153158 |
252 | E>D | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA344998520 rs1393344778 |
254 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766188080 CA1417383 |
254 | W>L | No |
ClinGen ExAC |
|
|
CA344998522 rs1393344778 |
254 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752867763 CA1417382 |
257 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA38518499 rs752867763 |
257 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA1417381 rs750192278 |
258 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs989833855 CA38518486 |
262 | Y>C | No |
ClinGen TOPMed |
|
|
CA38518489 rs914197674 |
262 | Y>N | No |
ClinGen Ensembl |
|
|
rs761645957 CA1417379 |
263 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774504905 CA1417378 |
263 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA344998402 rs1191678063 |
268 | I>V | No |
ClinGen gnomAD |
|
|
CA38518464 rs571188946 |
270 | V>I | No |
ClinGen 1000Genomes |
|
|
CA344998373 rs770117907 |
272 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775806204 CA1417374 |
272 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA344998368 rs1575227000 |
273 | Y>S | No |
ClinGen Ensembl |
|
|
rs771523780 CA1417370 |
275 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369086850 CA38518450 |
277 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344998345 rs1324743572 |
277 | I>M | No |
ClinGen gnomAD |
|
|
CA1417367 rs754401622 |
277 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs369086850 CA1417368 |
277 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325056362 CA344998314 |
280 | V>G | No |
ClinGen gnomAD |
|
|
rs1375140616 CA344998303 |
282 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs937215428 CA38517021 |
283 | G>R | No |
ClinGen gnomAD |
|
|
CA1417350 rs371750924 |
284 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201093644 CA1417348 |
287 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344998271 rs1425669232 |
288 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344998272 rs1425669232 |
288 | D>N | No |
ClinGen gnomAD |
|
|
CA344998247 rs1168968932 |
291 | R>S | No |
ClinGen TOPMed |
|
|
CA1417347 rs755779401 |
292 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA344998237 rs1255016152 |
293 | K>R | No |
ClinGen gnomAD |
|
|
CA16621598 rs1064797142 RCV000488130 |
294 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA344997756 rs1163102510 |
299 | F>L | No |
ClinGen gnomAD |
|
|
CA1417291 rs756298358 |
301 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344997702 rs1165682529 |
303 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344997617 rs1259631860 |
307 | A>E | No |
ClinGen TOPMed |
|
|
rs762215626 CA1417288 |
307 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344997612 rs1259631860 |
307 | A>V | No |
ClinGen TOPMed |
|
|
rs1458202605 CA344997592 |
309 | I>V | No |
ClinGen gnomAD |
|
|
RCV001308587 CA1417286 rs773059198 |
310 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2275601 CA1417285 |
311 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1265688339 CA344997541 |
313 | L>V | No |
ClinGen gnomAD |
|
|
rs532717763 CA1417283 |
314 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1417281 rs772870100 |
316 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778842130 CA1417278 |
317 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1417279 rs532068854 COSM210158 |
317 | V>I | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs532068854 CA344997457 |
317 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780032261 CA1417275 |
319 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA344997372 rs1408746181 |
320 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1417272 rs145104817 |
322 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1417271 rs757467143 |
323 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA38515771 rs372399119 |
323 | Y>S | No |
ClinGen ESP |
|
| TCGA novel | 330 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201609720 CA1417268 |
331 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1417269 rs201609720 |
331 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344997169 rs141647564 |
332 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000712173 CA1417267 RCV001000322 rs141647564 |
332 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA38515758 rs950583872 |
335 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1417266 rs765826557 |
335 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1486157539 CA344997056 |
339 | V>F | No |
ClinGen TOPMed |
|
|
CA1417264 rs772814364 |
342 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA344996981 rs1575223299 |
343 | Y>C | No |
ClinGen Ensembl |
|
|
rs916315587 CA38515744 |
346 | M>T | No |
ClinGen gnomAD |
|
|
CA1417263 rs141837466 |
347 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344996917 rs141837466 |
347 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761503513 CA1417262 |
347 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774295347 CA1417261 |
349 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA344996861 rs1454335895 |
351 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1417260 rs560305402 RCV001327646 |
351 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1417258 rs372090173 |
352 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344996852 rs1438230432 |
352 | P>S | No |
ClinGen TOPMed |
|
|
CA1417256 rs368253687 |
353 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138731836 CA1417257 |
353 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1417255 rs149077819 |
357 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1417252 rs778139850 |
358 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs145328578 CA1417253 |
358 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61731741 CA344996767 |
361 | S>C | No |
ClinGen gnomAD |
|
|
CA38515704 rs61731741 |
361 | S>F | No |
ClinGen gnomAD |
|
|
CA38515044 rs867192517 |
363 | N>I | No |
ClinGen Ensembl |
|
|
rs192884088 CA1417239 |
364 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1385535432 CA344996688 |
365 | V>I | No |
ClinGen gnomAD |
|
|
rs760213489 CA1417238 |
366 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344996657 rs1211967159 |
367 | D>E | No |
ClinGen TOPMed |
|
|
rs1316644897 CA344996661 |
367 | D>G | No |
ClinGen TOPMed |
|
|
rs1189063395 CA344996625 |
370 | I>T | No |
ClinGen gnomAD |
|
|
rs977194928 CA38515024 |
375 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1417236 rs778014876 |
376 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38515015 rs984631878 |
377 | R>* | No |
ClinGen Ensembl |
|
|
RCV000756302 rs750036742 CA1417235 COSM1668513 |
377 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1417234 rs748609557 |
379 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1417233 rs779092617 |
380 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA38514981 rs1026116437 |
384 | K>Q | No |
ClinGen Ensembl |
|
|
rs1575222417 CA344996491 |
384 | K>R | No |
ClinGen Ensembl |
|
|
CA38514975 rs199944519 |
385 | Y>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1417230 rs780875833 |
386 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1444402654 CA344996461 |
387 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1444402654 CA344996462 |
387 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751082807 CA1417228 |
387 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1417227 rs763875580 |
389 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762500645 CA1417226 |
390 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417225 rs752549085 |
390 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164592698 CA344996418 |
391 | P>L | No |
ClinGen gnomAD |
|
|
CA1417223 rs759500897 |
395 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1261585802 CA344996172 |
398 | V>F | No |
ClinGen TOPMed |
|
|
CA344996130 rs1558651789 |
404 | L>V | No |
ClinGen Ensembl |
|
|
CA1417198 rs760590170 |
406 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA344996102 rs1307658193 |
408 | M>K | No |
ClinGen gnomAD |
|
|
CA1417197 rs773349855 |
411 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA344996078 rs1218508469 |
411 | Q>R | No |
ClinGen gnomAD |
|
|
CA38508488 rs1024360515 |
412 | D>E | No |
ClinGen Ensembl |
|
|
rs144672633 RCV000888637 CA1417196 |
413 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1417193 COSM904641 rs765875442 |
414 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749737302 CA1417192 |
417 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1039551489 CA38508455 |
420 | M>V | No |
ClinGen TOPMed |
|
|
rs1433169701 CA344995981 |
421 | I>V | No |
ClinGen gnomAD |
|
|
rs139059920 CA1417191 |
426 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373006705 CA38508442 |
430 | Y>H | No |
ClinGen ESP |
|
|
RCV000992259 CA344995853 rs1575221726 |
431 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA344995842 rs1354117075 |
432 | V>M | No |
ClinGen TOPMed |
|
|
CA1417188 rs777371608 |
433 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141750416 CA1417187 |
434 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141750416 CA344995813 |
434 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558651704 CA344995790 |
436 | W>L | No |
ClinGen Ensembl |
|
|
rs1301532168 CA344995772 |
437 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344995757 rs1209489811 |
438 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1417170 rs747674311 |
440 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417169 rs747674311 |
440 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417168 rs778378796 |
440 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344994784 rs531565954 |
443 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1417165 rs531565954 |
443 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1417161 rs186333444 |
444 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186333444 CA344994767 |
444 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148033978 CA1417160 |
445 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374446877 CA1417159 |
447 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344994697 rs1453936270 |
447 | I>N | No |
ClinGen gnomAD |
|
|
rs574782225 CA38506777 |
447 | I>V | No |
ClinGen Ensembl |
|
|
rs1558650075 CA344994683 |
448 | I>T | No |
ClinGen Ensembl |
|
|
rs1415649191 CA344994664 |
449 | H>Y | No |
ClinGen TOPMed |
|
|
CA1417157 rs775804258 |
450 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1417155 rs762651731 |
452 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs369788407 CA1417154 |
455 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1445718271 CA344994502 |
456 | L>P | No |
ClinGen TOPMed |
|
|
CA1417150 rs372303989 |
462 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954946766 CA344994372 |
464 | V>F | No |
ClinGen gnomAD |
|
|
rs954946766 CA38506708 |
464 | V>I | No |
ClinGen gnomAD |
|
|
CA344994357 rs1227606098 |
465 | P>A | No |
ClinGen TOPMed |
|
|
rs1049341078 CA38506706 |
466 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1417149 RCV000963083 rs201212744 |
467 | I>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA344994259 rs1242076313 |
472 | A>S | No |
ClinGen gnomAD |
|
|
RCV000506162 CA344994211 rs1553395780 |
475 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779726211 CA1417148 |
475 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1417147 rs376070025 |
477 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371531855 CA1417146 |
477 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376867105 RCV001352459 CA344994118 |
480 | N>Y | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA1417145 rs780983309 |
483 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751503823 CA1417143 |
484 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA344994028 rs1440124856 |
485 | P>T | No |
ClinGen gnomAD |
|
|
CA1417142 rs778020291 |
486 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38506676 rs1053523660 |
487 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 488 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344993982 rs1367673808 |
488 | S>P | No |
ClinGen gnomAD |
|
|
rs900536861 CA38506674 |
489 | L>V | No |
ClinGen gnomAD |
|
|
rs934709705 CA38506672 |
490 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs541202772 CA1417140 |
495 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs746777423 CA1417123 |
495 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344993849 rs541202772 |
495 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344993325 rs1192433983 |
496 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA344993313 rs1487027204 |
498 | Y>N | No |
ClinGen gnomAD |
|
|
rs1033233162 CA38505754 |
501 | F>C | No |
ClinGen Ensembl |
|
|
CA1417122 rs549177877 |
501 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001341246 CA1417121 rs758405025 |
502 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA344993248 rs752877544 |
504 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA38505739 rs987262840 COSM425435 |
504 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs752877544 CA1417120 |
504 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA38505727 rs967498079 |
505 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs373561199 CA1417118 |
512 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344993130 rs1320447431 |
514 | N>S | No |
ClinGen gnomAD |
|
|
CA38505695 COSM108895 rs138835126 |
515 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1170693139 CA344993115 |
516 | S>N | No |
ClinGen gnomAD |
|
|
rs761070731 CA1417115 |
518 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1417114 rs201172537 |
520 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1417113 rs372250618 |
521 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1417110 rs753611856 |
522 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372078910 CA1417085 |
522 | H>L | No |
ClinGen ESP TOPMed |
|
|
CA1417109 rs753611856 |
522 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417084 rs760341951 |
524 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306305066 CA344992997 |
528 | T>I | No |
ClinGen gnomAD |
|
|
CA344992993 rs773141972 |
529 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA1417083 rs773141972 |
529 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1417082 rs771949470 |
530 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1417081 rs748116336 |
530 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344992964 rs1352864124 |
534 | L>I | No |
ClinGen TOPMed |
|
|
CA1417080 rs774389031 |
535 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749446927 CA1417078 |
541 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344992905 rs1156536082 |
543 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA344992898 COSM282376 rs1444693890 |
544 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs779944455 CA1417077 |
546 | P>S | No |
ClinGen ExAC |
|
|
rs374343844 CA1417076 |
547 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1417075 rs781561574 |
548 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1176137959 CA344992847 |
552 | L>F | No |
ClinGen TOPMed |
|
|
CA1417073 rs751837075 |
554 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764727862 CA1417072 |
556 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA344992797 rs1374598658 |
559 | S>F | No |
ClinGen TOPMed |
|
|
CA1417069 rs192296368 |
561 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344992780 rs1337761262 |
562 | C>F | No |
ClinGen TOPMed |
|
|
rs779730656 CA1417049 |
564 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755731775 CA1417048 |
566 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417046 rs767339628 |
567 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs146204188 CA1417045 |
570 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344992707 rs897450329 |
571 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1409601053 CA344992692 |
573 | I>M | No |
ClinGen TOPMed |
|
|
RCV001351077 rs2096085242 |
573 | I>V | No |
ClinVar dbSNP |
|
|
rs1427564477 CA344992685 |
574 | I>M | No |
ClinGen gnomAD |
|
|
CA344992680 rs1179013007 |
575 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs143181005 CA1417043 |
577 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344992664 rs143181005 |
577 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344992656 rs1358335705 |
578 | M>I | No |
ClinGen TOPMed |
|
|
rs1056712085 CA38504803 |
578 | M>K | No |
ClinGen Ensembl |
|
|
CA344992649 rs1262705462 |
579 | L>F | No |
ClinGen gnomAD |
|
|
CA344992645 rs1317084127 |
580 | L>H | No |
ClinGen gnomAD |
|
|
rs1486861811 CA344992640 |
581 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1486861811 CA344992642 |
581 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs199675363 CA1417040 |
586 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344992601 rs149534786 |
587 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1417037 rs138067182 |
588 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344992581 rs1215843389 |
590 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772275229 CA1417035 |
591 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA38504756 rs758568680 |
595 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 595 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1417033 rs779601553 |
596 | G>V | No |
ClinGen ExAC |
|
|
CA1417029 CA344992502 rs371589487 |
597 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1417030 rs371589487 |
597 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439795101 CA344992485 |
599 | W>R | No |
ClinGen TOPMed |
|
|
rs141243190 CA1417027 |
601 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 602 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762700017 CA1417026 |
602 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558648223 CA344992433 |
603 | C>Y | No |
ClinGen Ensembl |
|
|
rs1455371337 CA344992426 |
604 | Q>K | No |
ClinGen TOPMed |
|
|
rs918778528 CA38504723 |
605 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs765213528 CA344992398 |
607 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1417023 rs779151785 |
607 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs765213528 CA1417024 |
607 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332502900 CA344992387 |
608 | Y>S | No |
ClinGen TOPMed |
|
|
CA344992378 rs776693237 |
609 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766329359 CA1417021 |
609 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776693237 CA1417022 |
609 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1417020 RCV001319174 rs760973933 |
611 | F>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs773353718 CA1417019 |
612 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs911065623 CA344992335 |
613 | Y>C | No |
ClinGen TOPMed |
|
|
CA38504665 rs911065623 |
613 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 613 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q14739
6 regional properties for Q14739
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Coagulation factor 5/8 C-terminal domain | 276 - 427 | IPR000421-1 |
| domain | Coagulation factor 5/8 C-terminal domain | 433 - 592 | IPR000421-2 |
| domain | CUB domain | 28 - 142 | IPR000859-1 |
| domain | CUB domain | 149 - 267 | IPR000859-2 |
| domain | MAM domain | 641 - 802 | IPR000998 |
| domain | Neuropilin, C-terminal | 853 - 931 | IPR022579 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.1.70 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of nuclear inner membrane | The component of the nuclear inner membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromo shadow domain binding | Binding to a chromo shadow domain, a protein domain that is distantly related, and found in association with, the chromo domain. |
| delta14-sterol reductase activity | Catalysis of the reaction: NADP+ + 4,4-dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol = NADPH + H+ + 4,4-dimethyl-5-alpha-cholesta-8,14,24-trien-3-beta-ol. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| lamin binding | Binding to lamin; any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. |
| NADPH binding | Binding to the reduced form, NADPH, of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions. |
| oxidoreductase activity, acting on the CH-CH group of donors | Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cholesterol biosynthetic process | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| neutrophil differentiation | The process in which a myeloid precursor cell acquires the specialized features of a neutrophil. |
| sterol biosynthetic process | The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9J5 | DHCR7 | 7-dehydrocholesterol reductase | Bos taurus (Bovine) | PR |
| P23913 | LBR | Delta(14)-sterol reductase LBR | Gallus gallus (Chicken) | PR |
| Q9UBM7 | DHCR7 | 7-dehydrocholesterol reductase | Homo sapiens (Human) | PR |
| Q3U9G9 | Lbr | Delta(14)-sterol reductase LBR | Mus musculus (Mouse) | PR |
| O08984 | Lbr | Delta(14)-sterol reductase LBR | Rattus norvegicus (Rat) | PR |
| Q6P4M0 | dhcr7 | 7-dehydrocholesterol reductase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSRKFADGE | VVRGRWPGSS | LYYEVEILSH | DSTSQLYTVK | YKDGTELELK | ENDIKPLTSF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RQRKGGSTSS | SPSRRRGSRS | RSRSRSPGRP | PKSARRSASA | SHQADIKEAR | REVEVKLTPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ILKPFGNSIS | RYNGEPEHIE | RNDAPHKNTQ | EKFSLSQESS | YIATQYSLRP | RREEVKLKEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DSKEEKYVAK | ELAVRTFEVT | PIRAKDLEFG | GVPGVFLIMF | GLPVFLFLLL | LMCKQKDPSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LNFPPPLPAL | YELWETRVFG | VYLLWFLIQV | LFYLLPIGKV | VEGTPLIDGR | RLKYRLNGFY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AFILTSAVIG | TSLFQGVEFH | YVYSHFLQFA | LAATVFCVVL | SVYLYMRSLK | APRNDLSPAS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SGNAVYDFFI | GRELNPRIGT | FDLKYFCELR | PGLIGWVVIN | LVMLLAEMKI | QDRAVPSLAM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ILVNSFQLLY | VVDALWNEEA | LLTTMDIIHD | GFGFMLAFGD | LVWVPFIYSF | QAFYLVSHPN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EVSWPMASLI | IVLKLCGYVI | FRGANSQKNA | FRKNPSDPKL | AHLKTIHTST | GKNLLVSGWW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GFVRHPNYLG | DLIMALAWSL | PCGFNHILPY | FYIIYFTMLL | VHREARDEYH | CKKKYGVAWE |
| 610 | |||||
| KYCQRVPYRI | FPYIY |