Q9BQL6
SS
Gene name |
FERMT1 (C20orf42, KIND1, URP1) |
Protein name |
Fermitin family homolog 1 |
Names |
Kindlerin , Kindlin syndrome protein , Kindlin-1 , Unc-112-related protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55612 |
EC number |
|
Protein Class |
|
Descriptions
Kindlin-3 is a member of the kindlin family of focal adhesion proteins which bind to integrin beta-chain cytoplasmic domains to regulate integrin function. kindlin-3 is maintained in a homotrimer state, which is different from the monomer that binds integrin β cytoplasmic tails. The trimer formation of kindlin-3 results in an autoinhibited state, as the integrin-binding pocket is blocked by the pleckstrin homology (PH) domain of another protomer. Mutations disrupting the trimer interface (Q471A, A475F, S478A) lead to increased integrin-mediated cell adhesion and spreading, indicating relief from autoinhibition. This autoinhibition regulates kindlin-3’s role in integrin activation and signaling, with implications for diseases like leukocyte adhesion deficiency (LAD) III and cancer.
Autoinhibitory domains (AIDs)
Target domain |
581-677 (F3 subdomain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9BQL6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BQL6-F1 | Predicted | AlphaFoldDB |
525 variants for Q9BQL6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001291293 rs1983207985 |
9 | F>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000377020 CA9758559 RCV002520028 rs780463226 |
18 | V>I | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000322283 CA9758557 RCV001861169 rs201029402 |
22 | N>D | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000882780 rs137862671 RCV001138874 CA9758496 |
98 | R>H | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_066942 | 100 | R>del | KNDLRS [UniProt] | Yes | UniProt |
|
rs1983080839 RCV001352793 |
114 | S>* | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869312723 RCV003145138 |
125 | C>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568664492 RCV000002835 |
155 | N>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138019177 RCV000310894 RCV000958036 CA9758457 |
156 | N>S | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs16991866 VAR_048368 RCV000402388 CA9758456 RCV001522483 |
160 | I>T | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755393121 RCV001138873 CA9758449 RCV001856778 |
175 | G>A | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000209950 rs869312724 |
184 | S>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150175364 RCV000307261 RCV001515420 |
203 | M>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752983617 RCV001339855 RCV002546884 CA9758402 |
224 | P>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748240859 RCV000481477 RCV000789034 |
226 | Q>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000400921 RCV001850820 COSM1028875 rs147864238 CA9758393 |
232 | A>V | Kindler syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368612173 CA9758389 RCV001136617 |
238 | R>Q | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_061035 CA9758388 RCV001522654 RCV000351570 rs55666319 |
241 | V>A | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001522482 CA9758360 RCV000397362 rs62200482 |
255 | R>C | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000730517 CA115712 rs121918292 RCV000002833 |
263 | Q>* | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000002836 rs121918293 CA115714 RCV001381403 |
271 | R>* | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001143193 rs121918293 |
271 | R>G | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000002837 RCV002512685 CA115716 rs121918294 |
288 | R>* | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9758321 rs202037230 RCV002032356 RCV001143192 |
288 | R>Q | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357186 RCV000209904 rs779612399 |
297 | R>G | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002515570 CA357163 rs146180696 RCV000209869 |
304 | E>* | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9758310 rs764567711 RCV001351417 RCV002547528 |
307 | C>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs866141540 RCV000209882 |
332 | Q>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886056899 CA10652756 RCV000286867 |
349 | N>H | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA408181759 rs1294299308 RCV001143190 RCV001858938 |
372 | L>R | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA408181133 RCV000209929 CA357192 rs869312730 |
392 | Y>* | Kindler syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
VAR_066943 rs869312718 CA357195 RCV000209936 |
400 | S>P | Kindler syndrome KNDLRS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001141343 CA311212506 rs200647657 |
436 | F>S | Variant assessed as Somatic; 0.0 impact. Kindler syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1237569168 RCV001141342 RCV002559368 CA408179682 |
456 | D>N | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1982142302 RCV001352796 |
460 | Q>* | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142328166 RCV000209856 CA357160 |
461 | Y>* | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001882430 RCV001141339 rs145202913 CA9758143 |
462 | A>T | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000365948 rs150472152 RCV001865235 CA9758137 |
472 | S>L | Variant assessed as Somatic; 0.0 impact. Kindler syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9758119 rs371490137 RCV001865234 RCV000270153 |
519 | V>L | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000314902 CA10650147 rs386812146 |
526 | R>K | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000399582 rs2232074 RCV001512885 VAR_014398 RCV000243729 CA9758111 |
526 | R>K | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_014399 rs2232078 CA9758082 RCV000311451 RCV000520612 |
534 | A>T | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000971685 CA9758073 RCV001138760 rs76933768 |
543 | V>M | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10644319 rs886056898 RCV000402303 |
546 | M>R | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755090824 RCV002556947 CA9758070 RCV001138340 |
550 | E>K | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs869312719 VAR_066944 CA357155 |
559 | W>R | KNDLRS [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000002834 rs1568654138 |
572 | V>missing | Kindler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9758031 RCV002523171 rs776020009 RCV000393314 |
599 | I>L | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000209891 rs869312731 CA357179 |
616 | W>* | Kindler syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_066945 RCV000209952 rs869312721 |
623 | I>missing | Kindler syndrome KNDLRS [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_066945 rs869312721 |
623 | I>del | KNDLRS [UniProt] | Yes |
UniProt dbSNP |
|
rs773618744 CA9757987 RCV001143081 RCV002557046 |
665 | D>N | Variant assessed as Somatic; 0.0 impact. Kindler syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs758985794 CA9758569 |
3 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242138027 CA408195925 |
4 | S>Y | No |
ClinGen gnomAD |
|
|
CA9758568 rs776284106 |
8 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs761144951 CA9758566 |
9 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1195109466 CA408195710 |
11 | S>C | No |
ClinGen gnomAD |
|
|
CA9758565 rs773429449 |
12 | W>* | No |
ClinGen ExAC |
|
|
rs373716489 CA9758564 |
12 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177117470 CA408195665 |
13 | E>* | No |
ClinGen TOPMed |
|
|
rs999728597 CA311236120 |
14 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs999728597 CA408195610 |
14 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408195591 rs1193606562 |
16 | V>I | No |
ClinGen TOPMed |
|
|
CA9758562 rs367672925 |
17 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9758561 rs369858160 |
17 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1011251708 CA311236108 |
18 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408195514 rs780463226 |
18 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372798358 CA408195496 |
19 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9758558 rs140624712 |
20 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368952038 CA311236098 |
22 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368952038 CA9758556 |
22 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1056137 CA311236093 |
23 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs151287434 CA9758555 |
24 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752585747 CA9758554 |
25 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA408195258 rs1237497475 |
28 | D>N | No |
ClinGen gnomAD |
|
|
rs759081971 CA9758552 |
29 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538757728 CA9758551 |
30 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9758550 rs766072646 |
32 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760234003 CA9758549 |
32 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408195155 rs1230189322 |
33 | V>I | No |
ClinGen gnomAD |
|
|
rs773695393 CA9758548 |
34 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs762180518 CA9758546 |
37 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775020997 CA9758545 |
38 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749427526 CA9758543 |
39 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1213603254 CA408194977 |
40 | G>E | No |
ClinGen TOPMed |
|
|
CA408194938 rs1245430194 |
43 | M>T | No |
ClinGen TOPMed |
|
|
rs1162275820 CA408194906 |
44 | L>H | No |
ClinGen gnomAD |
|
|
CA9758542 rs780266799 |
45 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408194836 rs1568667079 |
47 | V>G | No |
ClinGen Ensembl |
|
|
CA311235985 rs780902740 |
47 | V>I | No |
ClinGen Ensembl |
|
|
rs1157852326 CA408194826 |
48 | E>G | No |
ClinGen gnomAD |
|
|
rs929847047 CA311235977 |
49 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA311235972 rs917679321 |
49 | Q>R | No |
ClinGen Ensembl |
|
|
rs771157754 CA9758521 |
52 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1296444669 CA408193274 |
52 | I>V | No |
ClinGen gnomAD |
|
|
rs747990571 CA9758520 |
53 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408193235 rs1320719158 |
54 | Q>R | No |
ClinGen gnomAD |
|
|
CA9758519 rs756108637 |
56 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA9758518 rs754978561 |
61 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9758517 rs749230193 |
64 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286838323 CA408193019 |
66 | K>R | No |
ClinGen TOPMed |
|
|
CA408192942 rs1433586125 |
69 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408192917 rs1186917419 |
71 | L>P | No |
ClinGen gnomAD |
|
|
CA408192861 rs749909572 |
74 | H>L | No |
ClinGen ExAC TOPMed |
|
|
CA9758514 rs749909572 |
74 | H>R | No |
ClinGen ExAC TOPMed |
|
|
CA311232801 rs973160821 |
76 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA311232784 rs202213120 |
76 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9758513 rs202213120 |
76 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9758509 rs188529776 |
84 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9758506 rs368160547 |
85 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776160144 CA9758508 |
85 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866514305 CA311232760 |
85 | D>Y | No |
ClinGen Ensembl |
|
|
CA408192632 rs1568665692 |
86 | A>G | No |
ClinGen Ensembl |
|
|
rs201299848 CA311232731 |
87 | K>N | No |
ClinGen Ensembl |
|
|
rs568046323 CA9758504 |
90 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408192547 rs1376290661 |
91 | T>A | No |
ClinGen gnomAD |
|
|
rs1376290661 CA408192549 |
91 | T>P | No |
ClinGen gnomAD |
|
|
rs184921922 CA9758499 |
96 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141690919 CA9758497 COSM1206989 |
98 | R>C | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA408192407 rs137862671 |
98 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA311232632 rs914756695 |
100 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs146184803 CA9758494 |
100 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914756695 CA408192382 |
100 | R>S | No |
ClinGen gnomAD |
|
|
CA9758492 rs777516456 |
102 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9758490 rs201129798 |
108 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408192177 rs1361205005 |
109 | L>M | No |
ClinGen TOPMed |
|
|
rs765716291 CA9758489 |
110 | R>* | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760079665 CA408192155 |
110 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760079665 CA9758488 |
110 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408192128 rs1243546070 |
112 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408192059 rs1188124850 |
116 | V>L | No |
ClinGen TOPMed |
|
|
rs753934719 CA9758487 |
120 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758486 rs766455399 |
121 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408191966 rs1396098373 |
122 | S>I | No |
ClinGen gnomAD |
|
|
rs1349852986 CA408191955 |
123 | D>G | No |
ClinGen gnomAD |
|
|
rs760691296 CA9758485 |
124 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408190822 rs1300379789 |
131 | R>G | No |
ClinGen TOPMed |
|
|
CA408190699 rs539867893 |
138 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369542572 CA9758464 |
141 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1017159941 CA311229908 |
143 | G>D | No |
ClinGen Ensembl |
|
|
CA408190578 rs1351383040 |
143 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408190519 rs1230840491 |
145 | Y>H | No |
ClinGen gnomAD |
|
|
CA408190504 rs1332560904 |
146 | F>L | No |
ClinGen gnomAD |
|
|
rs762090385 CA408190489 |
146 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304468847 CA408190498 |
146 | F>S | No |
ClinGen gnomAD |
|
|
rs377153001 CA9758461 RCV000522055 |
147 | K>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408190463 rs1322714659 |
148 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA311229895 rs112168905 |
148 | K>R | No |
ClinGen Ensembl |
|
|
rs112168905 CA311229900 |
148 | K>T | No |
ClinGen Ensembl |
|
|
rs1047738520 CA311229875 |
157 | K>Q | No |
ClinGen Ensembl |
|
|
CA311229849 rs202137913 |
160 | I>L | No |
ClinGen 1000Genomes |
|
|
rs185559251 CA9758455 |
161 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs185559251 CA9758454 |
161 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1173273684 CA408190180 |
161 | I>V | No |
ClinGen gnomAD |
|
|
rs771920901 CA9758453 |
162 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs747844254 CA9758452 |
163 | D>H | No |
ClinGen ExAC |
|
|
rs1277865576 CA408190111 |
164 | I>N | No |
ClinGen gnomAD |
|
|
CA408190011 rs1346874528 |
169 | S>I | No |
ClinGen gnomAD |
|
|
CA408190016 rs1346874528 |
169 | S>N | No |
ClinGen gnomAD |
|
|
rs1280691705 CA408189983 |
171 | P>A | No |
ClinGen gnomAD |
|
|
CA408189969 rs1227381733 |
172 | T>A | No |
ClinGen gnomAD |
|
|
CA9758450 rs755393121 |
175 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408189906 rs755393121 |
175 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173059236 CA408189871 |
178 | V>L | No |
ClinGen TOPMed |
|
|
CA408189218 rs1267110744 |
181 | G>D | No |
ClinGen TOPMed |
|
|
rs867910702 CA311228079 |
181 | G>S | No |
ClinGen Ensembl |
|
|
rs972849747 CA311228052 |
183 | Y>H | No |
ClinGen Ensembl |
|
|
rs757388806 CA9758424 |
184 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161003417 CA408189127 |
186 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1161003417 CA408189132 |
186 | T>N | No |
ClinGen gnomAD |
|
|
CA408189123 rs1473477440 |
187 | M>V | No |
ClinGen gnomAD |
|
|
CA408189077 rs1600445656 |
189 | P>T | No |
ClinGen Ensembl |
|
|
rs751558324 CA9758423 |
190 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758422 rs764422079 |
191 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408189012 rs764422079 |
191 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1481958123 CA408188964 |
193 | P>S | No |
ClinGen gnomAD |
|
|
CA408188970 rs1481958123 |
193 | P>T | No |
ClinGen gnomAD |
|
|
CA9758421 rs758533850 |
195 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300608158 CA408188853 |
196 | G>* | No |
ClinGen gnomAD |
|
|
rs1451310537 CA408188778 |
198 | P>L | No |
ClinGen gnomAD |
|
|
rs1287962995 CA408188655 |
203 | M>K | No |
ClinGen gnomAD |
|
|
rs1335504859 CA408188625 |
204 | T>I | No |
ClinGen gnomAD |
|
|
CA408188613 rs1288290733 |
205 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766284783 CA9758418 |
207 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758417 rs760493185 |
208 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs773308246 CA9758416 |
210 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535034375 CA9758415 |
211 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA9758414 rs761426891 |
212 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758412 rs149092699 |
213 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9758411 rs775064265 |
214 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775064265 CA9758410 |
214 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758409 rs770165663 |
214 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA408188303 rs1410054072 |
217 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408188250 rs77424372 |
220 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9758407 rs77424372 |
220 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408188223 rs1245231992 |
222 | S>C | No |
ClinGen gnomAD |
|
|
CA9758406 rs771316600 |
222 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9758405 rs750182988 |
223 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777707799 CA9758404 |
223 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs752983617 CA9758403 |
224 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323658510 CA408188188 |
224 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375933266 CA9758401 |
225 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311227870 rs1052943472 |
225 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408188173 rs767540244 |
226 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758398 rs767540244 |
226 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs748240859 | 226 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748240859 | 226 | Q>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761644233 CA9758395 |
227 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1442568253 CA408188102 |
231 | L>V | No |
ClinGen gnomAD |
|
|
rs147864238 CA9758394 |
232 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408188075 rs1346933197 |
233 | D>G | No |
ClinGen gnomAD |
|
|
CA408188057 rs1159691706 |
234 | M>I | No |
ClinGen gnomAD |
|
|
CA408188064 rs1555800908 |
234 | M>V | No |
ClinGen Ensembl |
|
|
rs769404603 CA9758390 |
237 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408188014 rs886513862 |
238 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs886513862 CA311227807 |
238 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1247624853 CA408187987 |
240 | L>P | No |
ClinGen gnomAD |
|
|
rs1399325233 CA408187966 |
242 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9758386 rs373652433 |
243 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229922563 CA408187936 |
244 | A>D | No |
ClinGen gnomAD |
|
|
rs778287722 CA9758385 |
244 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408187918 rs1379269302 |
245 | K>N | No |
ClinGen gnomAD |
|
|
rs748202247 CA9758383 |
246 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748202247 CA9758384 |
246 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs779318628 CA9758382 |
247 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9758380 rs750303440 |
249 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9758381 rs370454892 |
249 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777736000 CA9758359 |
255 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408186937 rs777736000 |
255 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752267522 CA9758357 |
256 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408186890 rs142987152 |
258 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408186900 rs1352871070 |
258 | M>L | No |
ClinGen TOPMed |
|
|
CA9758356 rs142987152 |
258 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1352871070 CA408186895 |
258 | M>V | No |
ClinGen TOPMed |
|
|
rs867461488 CA311225793 |
259 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs867461488 CA408186869 |
259 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1206036180 CA408186824 |
261 | G>S | No |
ClinGen TOPMed |
|
|
rs753458351 CA311225778 |
262 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758354 rs753458351 |
262 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408186780 rs1482939274 |
263 | Q>H | No |
ClinGen gnomAD |
|
|
rs766019152 CA9758353 |
266 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758350 rs144791466 |
271 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1488051189 CA408186608 |
272 | F>S | No |
ClinGen gnomAD |
|
|
rs1233753284 CA408186567 |
274 | Y>H | No |
ClinGen gnomAD |
|
|
rs936591745 CA408186514 |
277 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768878539 CA9758348 |
277 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311225763 rs936591745 |
277 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs542645984 CA9758347 |
278 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150248382 CA9758345 RCV001878468 COSM109843 |
279 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA9758344 rs746834175 |
283 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1287235864 CA408186359 |
283 | K>T | No |
ClinGen gnomAD |
|
|
CA408183514 rs1454646791 |
284 | Y>C | No |
ClinGen gnomAD |
|
|
CA408183503 rs1377361173 |
285 | D>Y | No |
ClinGen gnomAD |
|
|
rs377633165 CA9758323 |
287 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408183434 rs1464021180 |
290 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1290980012 CA408183440 |
290 | N>S | No |
ClinGen TOPMed |
|
|
rs1282095837 CA408183410 |
292 | L>F | No |
ClinGen gnomAD |
|
|
rs771874082 CA9758320 |
292 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1471662560 CA408183395 |
293 | Y>C | No |
ClinGen gnomAD |
|
|
CA9758319 rs747900215 |
294 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs550410343 CA9758317 |
295 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350385739 CA408183363 |
296 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408183339 rs1265074883 |
298 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs139252668 CA9758313 |
298 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279258488 CA408183334 |
299 | A>T | No |
ClinGen TOPMed |
|
|
CA408183325 rs1320857311 |
299 | A>V | No |
ClinGen gnomAD |
|
|
rs529464940 CA9758311 |
300 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780949811 CA9758312 |
300 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171245808 CA408183312 |
301 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs918362639 CA311218991 |
302 | L>* | No |
ClinGen gnomAD |
|
|
CA311218984 rs868441332 |
303 | E>K | No |
ClinGen Ensembl |
|
|
rs1173823522 CA408183249 |
305 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1330645419 CA408183227 |
307 | C>Y | No |
ClinGen gnomAD |
|
|
CA9758309 rs763508519 |
310 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1208513452 CA408183137 |
313 | L>F | No |
ClinGen gnomAD |
|
|
CA408183130 rs753075905 |
314 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758306 rs753075905 |
314 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408183081 rs1228218420 |
317 | A>D | No |
ClinGen gnomAD |
|
|
rs1228218420 CA408183079 |
317 | A>G | No |
ClinGen gnomAD |
|
|
rs1371897148 CA408183083 |
317 | A>S | No |
ClinGen TOPMed |
|
|
CA408183045 rs1417036919 |
319 | Q>H | No |
ClinGen gnomAD |
|
|
CA408182903 COSM1717149 rs1473910227 |
320 | Y>H | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9758282 rs753896502 |
321 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367739444 CA9758283 |
321 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408182769 rs1465787805 |
326 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408182746 rs895302818 |
327 | L>F | No |
ClinGen Ensembl |
|
|
rs1568658926 CA408182682 |
330 | E>V | No |
ClinGen Ensembl |
|
|
rs760882705 CA9758280 |
331 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1468376496 CA408182664 |
331 | T>S | No |
ClinGen gnomAD |
|
|
CA9758278 rs547214006 |
337 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9758276 rs775535627 |
339 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336169243 CA634253497 |
339 | E>VH* | No |
ClinGen gnomAD |
|
|
CA9758275 rs138745546 |
340 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs150581071 CA9758274 COSM1206987 RCV000523873 |
345 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA408182410 rs1280938926 |
346 | A>T | No |
ClinGen gnomAD |
|
|
CA311218413 rs148022730 |
346 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA311218409 rs200704756 |
350 | L>V | No |
ClinGen Ensembl |
|
|
rs370448619 CA311218407 |
351 | E>* | No |
ClinGen ESP TOPMed |
|
|
CA9758270 rs777238416 |
356 | G>D | No |
ClinGen ExAC |
|
|
CA408182215 rs1466156414 |
357 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9758268 rs372599720 |
359 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177562517 CA408182152 |
361 | S>N | No |
ClinGen gnomAD |
|
|
CA408182150 rs1454041321 |
361 | S>R | No |
ClinGen gnomAD |
|
|
rs1409808456 CA408182161 |
361 | S>R | No |
ClinGen gnomAD |
|
|
rs1251345414 CA408182135 |
363 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408181820 rs1277770210 |
364 | E>K | No |
ClinGen gnomAD |
|
|
rs887127415 CA311217381 |
365 | D>N | No |
ClinGen Ensembl |
|
|
rs755272944 CA408181804 |
366 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755272944 CA9758248 |
366 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 367 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330477728 CA408181787 |
368 | D>E | No |
ClinGen TOPMed |
|
|
CA408181758 rs1212271703 |
373 | A>T | No |
ClinGen gnomAD |
|
|
rs1364035457 CA408181746 |
374 | D>E | No |
ClinGen gnomAD |
|
|
rs868254492 CA311217368 |
374 | D>Y | No |
ClinGen Ensembl |
|
|
CA9758246 rs780491245 |
379 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781132211 CA9758225 |
381 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746023395 CA9758226 |
381 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9758224 rs757299220 |
382 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757299220 CA408181262 |
382 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420618796 CA408181246 |
383 | K>* | No |
ClinGen gnomAD |
|
|
rs536285387 CA408181244 |
383 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536285387 CA9758223 |
383 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408181221 rs1175057823 |
385 | L>P | No |
ClinGen gnomAD |
|
|
CA9758220 rs753662479 |
387 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs869312729 | 388 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408181178 rs1480496172 |
389 | F>S | No |
ClinGen gnomAD |
|
|
CA408181154 rs1332637757 |
391 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs750308235 CA9758217 |
393 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9758218 rs750308235 |
393 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA9758216 rs766950162 |
395 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1257572784 CA408181040 COSM1713153 |
400 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1393427239 CA408181037 |
401 | I>V | No |
ClinGen gnomAD |
|
|
rs1374316602 CA408181023 |
402 | A>S | No |
ClinGen gnomAD |
|
|
CA9758215 rs761341202 |
403 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA408180986 rs1257953582 |
405 | K>T | No |
ClinGen TOPMed |
|
|
CA408180946 rs1568656215 |
408 | E>G | No |
ClinGen Ensembl |
|
|
CA9758213 rs768269556 |
409 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768269556 CA9758214 |
409 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408180930 rs1164178848 |
410 | E>Q | No |
ClinGen TOPMed |
|
|
rs369591144 CA9758211 |
411 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408180902 rs1362353977 |
412 | G>A | No |
ClinGen gnomAD |
|
|
rs770125798 CA9758210 |
413 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746370433 CA408180878 |
414 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746370433 CA9758209 |
414 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781688885 CA9758208 |
421 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 422 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM230399 CA9758189 rs747141428 |
424 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9758187 rs772213087 |
427 | P>A | No |
ClinGen ExAC |
|
|
rs779147426 CA9758186 |
428 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA311212511 rs1024649221 |
428 | D>G | No |
ClinGen TOPMed |
|
|
rs538697423 CA311212513 |
428 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA9758184 rs755896917 |
429 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745647910 CA9758183 |
432 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9758182 rs781042281 |
432 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408180076 rs1432545271 |
433 | G>E | No |
ClinGen gnomAD |
|
|
rs753756500 CA311212504 |
439 | K>E | No |
ClinGen Ensembl |
|
|
rs757850038 CA9758178 |
446 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757850038 CA9758179 |
446 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311212500 rs1043438763 |
448 | M>T | No |
ClinGen gnomAD |
|
|
CA408179734 rs1478026917 |
450 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1478026917 CA408179737 |
450 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9758177 rs184833211 |
451 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764911392 CA9758176 |
452 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311212497 rs1006124833 |
454 | R>S | No |
ClinGen TOPMed |
|
|
CA9758175 rs759866145 |
455 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758147 rs768549172 |
458 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA408179366 rs1216021979 |
458 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1216021979 CA408179365 |
458 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408179317 rs775521912 |
461 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs775521912 CA9758145 |
461 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408179289 rs1240269135 |
463 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA408179291 rs1240269135 |
463 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408179276 rs1237637585 |
464 | W>R | No |
ClinGen TOPMed |
|
|
CA408179245 rs1369524962 |
465 | M>L | No |
ClinGen gnomAD |
|
|
CA9758142 rs777735943 |
466 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 467 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9758141 rs186300804 |
468 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9758138 rs754389438 |
471 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756589930 CA9758135 |
474 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9758133 rs768198761 |
477 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs750799920 CA9758134 |
477 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 478 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9758132 rs544832746 |
478 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751949898 CA9758131 |
484 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9758130 rs764254585 |
486 | V>F | No |
ClinGen ExAC |
|
|
rs762897113 CA9758129 |
486 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408178867 rs764254585 |
486 | V>I | No |
ClinGen ExAC |
|
|
CA408178817 rs1335105696 |
490 | L>F | No |
ClinGen TOPMed |
|
|
rs1409078510 CA408178807 |
491 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311212063 rs201209828 |
495 | M>V | No |
ClinGen 1000Genomes |
|
|
rs1346687311 CA408178694 |
499 | N>S | No |
ClinGen gnomAD |
|
|
CA9758125 rs772984367 |
500 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408178674 rs1220426276 |
501 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1220426276 CA408178677 |
501 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA408178668 rs1368258010 |
501 | A>V | No |
ClinGen gnomAD |
|
|
rs1568654698 CA408178645 |
503 | Q>R | No |
ClinGen Ensembl |
|
|
CA408178618 rs1428404766 |
505 | A>V | No |
ClinGen gnomAD |
|
|
rs1362143331 CA408178602 |
507 | S>G | No |
ClinGen gnomAD |
|
|
CA408178595 rs1298574057 |
507 | S>I | No |
ClinGen gnomAD |
|
|
CA408178589 rs1434395632 |
508 | L>I | No |
ClinGen gnomAD |
|
|
CA9758123 rs151300234 |
509 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1433803696 CA408178544 |
511 | M>K | No |
ClinGen gnomAD |
|
|
rs1185229622 CA408178527 |
512 | D>G | No |
ClinGen gnomAD |
|
|
CA408178534 rs1419450462 |
512 | D>N | No |
ClinGen gnomAD |
|
|
CA311212061 rs932153303 |
514 | N>K | No |
ClinGen Ensembl |
|
|
CA408178479 rs1479086600 |
515 | P>L | No |
ClinGen gnomAD |
|
|
rs1233878131 CA408178483 |
515 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1233878131 CA408178485 |
515 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs181604705 CA9758116 |
521 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs181604705 CA311212060 |
521 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143843663 CA9758118 |
521 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143843663 CA9758117 |
521 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562411034 CA9758114 |
522 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139184940 CA9758115 |
522 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408178385 rs1239824383 |
523 | C>S | No |
ClinGen TOPMed |
|
|
CA9758113 rs781696044 |
523 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA408178349 rs112086590 |
526 | R>* | No |
ClinGen gnomAD |
|
|
rs112086590 CA311212058 |
526 | R>G | No |
ClinGen gnomAD |
|
|
rs1361922889 CA408178305 |
529 | S>P | No |
ClinGen TOPMed |
|
|
rs1466628451 CA408178283 |
530 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA408178279 rs1354078093 |
531 | Q>E | No |
ClinGen gnomAD |
|
|
rs758553172 CA9758109 |
531 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408178240 rs1245205971 |
532 | L>P | No |
ClinGen gnomAD |
|
|
rs2232078 CA408178222 |
534 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9758080 rs373229817 |
535 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143876620 CA9758081 |
535 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1439419659 CA408178205 |
536 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759081476 CA9758078 |
538 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770476471 CA9758076 |
539 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408178138 rs1192440977 |
541 | Q>E | No |
ClinGen gnomAD |
|
|
CA311211917 rs866865548 |
544 | A>S | No |
ClinGen Ensembl |
|
|
rs6053892 CA311211916 |
545 | Q>H | No |
ClinGen Ensembl |
|
|
rs370050989 CA9758072 |
547 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311211915 rs370050989 |
547 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284151731 CA408177378 |
549 | V>L | No |
ClinGen gnomAD |
|
|
rs753892881 CA9758069 |
550 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1231122532 CA408177338 |
551 | A>D | No |
ClinGen gnomAD |
|
|
CA408177295 rs149523994 |
554 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9758066 rs763811237 |
554 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408177288 rs763811237 |
554 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758065 rs763811237 |
554 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758067 rs149523994 |
554 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1383171669 CA408177268 |
556 | I>L | No |
ClinGen gnomAD |
|
|
rs200005649 CA9758064 COSM1412885 |
558 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs765239599 CA9758062 |
559 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 561 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9758061 rs200769383 |
563 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753927 CA408177141 |
565 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9758059 rs770407636 |
566 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600422952 CA408176447 |
578 | K>Q | No |
ClinGen Ensembl |
|
| rs1330809290 | 580 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9758040 rs753749103 |
582 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408176397 rs1027291712 |
585 | V>F | No |
ClinGen gnomAD |
|
|
CA311211047 rs1027291712 |
585 | V>I | No |
ClinGen gnomAD |
|
|
rs185314931 CA9758038 |
588 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775833542 CA9758037 |
589 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 591 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449430630 CA408176342 |
593 | I>V | No |
ClinGen gnomAD |
|
|
rs1267354335 CA408176326 |
595 | A>S | No |
ClinGen TOPMed |
|
|
CA9758032 rs142825013 |
598 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408176300 rs1334293996 |
599 | I>M | No |
ClinGen gnomAD |
|
|
rs565379507 CA311211038 |
601 | V>L | No |
ClinGen Ensembl |
|
|
COSM1713147 RCV000520623 CA408176270 rs1172664527 |
604 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA311211035 rs146487226 |
604 | W>R | No |
ClinGen ESP gnomAD |
|
|
CA9758028 rs781325089 |
605 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1421470272 CA408176263 |
605 | R>S | No |
ClinGen TOPMed |
|
|
TCGA novel rs776343825 CA311211032 |
606 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA9758027 rs757545709 |
606 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs747159883 CA9758026 |
607 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758023 rs753750023 |
609 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs754770222 CA9758024 |
609 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408176197 rs1236909061 |
612 | W>C | No |
ClinGen gnomAD |
|
|
CA9758021 rs755628990 |
617 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9758020 rs749937996 |
618 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773937264 CA9758017 |
619 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA9758018 rs761462514 |
619 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408175912 rs1331533997 |
622 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs756076472 CA9758002 |
623 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408175828 rs1347340686 |
629 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408175765 rs1159357255 |
634 | T>I | No |
ClinGen gnomAD |
|
|
rs756711837 CA408175711 |
639 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA9757999 rs756711837 |
639 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA408175671 rs375087018 |
642 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9757997 rs763711311 |
643 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763281287 CA9757996 |
644 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9757995 rs534816401 |
645 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408175627 rs1282521865 |
646 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408175623 rs1287656788 |
647 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs998049821 CA311210518 |
647 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 648 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM74650 rs558908354 CA9757993 |
649 | G>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1271437014 CA408175564 |
651 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 652 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277368433 CA408175522 |
655 | T>I | No |
ClinGen gnomAD |
|
|
CA408175520 rs372047057 |
656 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201899720 CA9757990 |
656 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311210508 rs372047057 |
656 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA408175456 rs1357570688 |
661 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408175430 rs1178311347 |
663 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9757989 rs771166313 |
664 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148074631 CA9757986 |
665 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408175386 rs1367253194 |
666 | E>D | No |
ClinGen TOPMed |
|
|
CA9757985 rs749106204 |
668 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405303022 CA408175361 |
668 | L>W | No |
ClinGen TOPMed |
|
|
rs752500262 COSM1412884 CA311210497 |
671 | K>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA408175316 rs1343558511 |
672 | L>* | No |
ClinGen TOPMed |
|
|
rs376128513 CA408175296 |
674 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376128513 CA9757982 |
674 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756803539 CA9757980 |
675 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937989397 CA311210491 |
677 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1257287311 CA408175267 |
677 | D>N | No |
ClinGen gnomAD |
1 associated diseases with Q9BQL6
[MIM: 173650]: Kindler syndrome (KNDLRS)
An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. . Note=The disease is caused by variants affecting the gene represented in this entry. Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020). .
Without disease ID
- An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. . Note=The disease is caused by variants affecting the gene represented in this entry. Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020). .
6 regional properties for Q9BQL6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pleckstrin homology domain | 370 - 475 | IPR001849 |
| domain | FERM central domain | 281 - 355 | IPR019748-1 |
| domain | FERM central domain | 471 - 570 | IPR019748-2 |
| domain | Band 4.1 domain | 91 - 570 | IPR019749 |
| domain | Kindlin/fermitin, PH domain | 370 - 493 | IPR037837 |
| domain | Kindlin-2, N-terminal | 10 - 95 | IPR040790 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell periphery | The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| integrin binding | Binding to an integrin. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| basement membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the basement membrane. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| establishment of epithelial cell polarity | The specification and formation of anisotropic intracellular organization of an epithelial cell. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| keratinocyte migration | The directed movement of a keratinocyte, epidermal cells which synthesize keratin, from one site to another. |
| keratinocyte proliferation | The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of protein import into nucleus | Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of proteins from the cytoplasm into the nucleus. |
| negative regulation of stem cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of stem cell proliferation. |
| negative regulation of timing of anagen | Any process that stops, prevents, or reduces the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. |
| positive regulation of cell adhesion mediated by integrin | Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin. |
| positive regulation of cell-matrix adhesion | Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix. |
| positive regulation of integrin activation | Any process that activates or increases the frequency, rate, or extent of integrin activation. |
| positive regulation of transforming growth factor beta production | Any process that activates or increases the frequency, rate, or extent of production of transforming growth factor-beta. |
| positive regulation of transforming growth factor beta receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity. |
| positive regulation of wound healing, spreading of epidermal cells | Any process that activates or increases the frequency, rate or extent of wound healing, spreading of epidermal cells. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32LP0 | FERMT3 | Fermitin family homolog 3 | Bos taurus (Bovine) | SS |
| Q9VZI3 | Fit1 | Unc-112-related protein | Drosophila melanogaster (Fruit fly) | SS |
| Q86UX7 | FERMT3 | Fermitin family homolog 3 | Homo sapiens (Human) | EV |
| Q96AC1 | FERMT2 | Fermitin family homolog 2 | Homo sapiens (Human) | SS |
| Q9Y4G6 | TLN2 | Talin-2 | Homo sapiens (Human) | SS |
| Q9Y490 | TLN1 | Talin-1 | Homo sapiens (Human) | EV |
| Q8CIB5 | Fermt2 | Fermitin family homolog 2 | Mus musculus (Mouse) | SS |
| Q8K1B8 | Fermt3 | Fermitin family homolog 3 | Mus musculus (Mouse) | SS |
| P59113 | Fermt1 | Fermitin family homolog 1 | Mus musculus (Mouse) | SS |
| P26039 | Tln1 | Talin-1 | Mus musculus (Mouse) | EV |
| Q18685 | unc-112 | Protein unc-112 | Caenorhabditis elegans | SS |
| F1Q8X5 | fermt2 | Fermitin family homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSSTDFTFA | SWELVVRVDH | PNEEQQKDVT | LRVSGDLHVG | GVMLKLVEQI | NISQDWSDFA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LWWEQKHCWL | LKTHWTLDKY | GVQADAKLLF | TPQHKMLRLR | LPNLKMVRLR | VSFSAVVFKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSDICKILNI | RRSEELSLLK | PSGDYFKKKK | KKDKNNKEPI | IEDILNLESS | PTASGSSVSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLYSKTMTPI | YDPINGTPAS | STMTWFSDSP | LTEQNCSILA | FSQPPQSPEA | LADMYQPRSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDKAKLNAGW | LDSSRSLMEQ | GIQEDEQLLL | RFKYYSFFDL | NPKYDAVRIN | QLYEQARWAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLEEIDCTEE | EMLIFAALQY | HISKLSLSAE | TQDFAGESEV | DEIEAALSNL | EVTLEGGKAD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SLLEDITDIP | KLADNLKLFR | PKKLLPKAFK | QYWFIFKDTS | IAYFKNKELE | QGEPLEKLNL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RGCEVVPDVN | VAGRKFGIKL | LIPVADGMNE | MYLRCDHENQ | YAQWMAACML | ASKGKTMADS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SYQPEVLNIL | SFLRMKNRNS | ASQVASSLEN | MDMNPECFVS | PRCAKRHKSK | QLAARILEAH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QNVAQMPLVE | AKLRFIQAWQ | SLPEFGLTYY | LVRFKGSKKD | DILGVSYNRL | IKIDAATGIP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VTTWRFTNIK | QWNVNWETRQ | VVIEFDQNVF | TAFTCLSADC | KIVHEYIGGY | IFLSTRSKDQ |
| 670 | |||||
| NETLDEDLFH | KLTGGQD |