P10767
Gene name |
FGF6 (HST2, HSTF2) |
Protein name |
Fibroblast growth factor 6 |
Names |
FGF-6 , Heparin secretory-transforming protein 2 , HST-2 , HSTF-2 , Heparin-binding growth factor 6 , HBGF-6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2251 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
85-207 (beta-trefoil core) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for P10767
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-P10767-F1 | Predicted | AlphaFoldDB |
290 variants for P10767
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1263936373 | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs921822059 | 2 | A>V | No |
TOPMed gnomAD |
|
rs761528202 | 6 | K>E | No |
ExAC gnomAD |
|
rs1232603436 | 7 | L>M | No | gnomAD | |
rs113373093 | 7 | L>P | No |
TOPMed gnomAD |
|
rs113373093 | 7 | L>Q | No |
TOPMed gnomAD |
|
rs548134803 | 9 | I>M | No |
1000Genomes ExAC gnomAD |
|
rs768003495 | 9 | I>T | No |
ExAC gnomAD |
|
rs1462734961 COSM161061 |
11 | M>T | NS [Cosmic] | No |
cosmic curated TOPMed gnomAD |
COSM4912434 | 11 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775224777 | 12 | S>Y | No |
ExAC TOPMed gnomAD |
|
COSM4655600 rs1565472687 |
13 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
COSM1165346 rs771915903 |
13 | R>W | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
TCGA novel | 14 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778673100 | 17 | R>C | No |
ExAC TOPMed gnomAD |
|
rs1194520233 | 17 | R>H | No |
TOPMed gnomAD |
|
rs778673100 | 17 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1427949837 | 19 | Q>* | No | gnomAD | |
rs1195704124 | 20 | G>A | No | gnomAD | |
rs1195704124 | 20 | G>D | No | gnomAD | |
rs1273570877 | 21 | T>M | No |
TOPMed gnomAD |
|
rs1273570877 | 21 | T>R | No |
TOPMed gnomAD |
|
rs1865753829 | 21 | T>S | No | Ensembl | |
rs749489333 | 22 | L>P | No |
ExAC gnomAD |
|
rs777927880 | 23 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1228094811 | 24 | A>D | No | gnomAD | |
rs1214285156 | 24 | A>S | No | TOPMed | |
rs756102466 | 25 | L>F | No |
ExAC TOPMed gnomAD |
|
rs756102466 | 25 | L>V | No |
ExAC TOPMed gnomAD |
|
rs767850309 | 26 | V>F | No |
ExAC TOPMed gnomAD |
|
rs767850309 | 26 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1865753231 | 28 | L>P | No | Ensembl | |
TCGA novel | 29 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs139098855 | 29 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368976437 | 31 | L>P | No | Ensembl | |
rs1865753075 | 31 | L>V | No |
TOPMed gnomAD |
|
rs1488604695 | 32 | V>A | No | TOPMed | |
rs766832668 | 32 | V>L | No |
ExAC TOPMed gnomAD |
|
rs766832668 | 32 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1403885085 | 33 | G>S | No |
TOPMed gnomAD |
|
rs1399115761 | 33 | G>V | No | gnomAD | |
TCGA novel | 34 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1865752724 | 34 | M>T | No | TOPMed | |
COSM4041948 | 35 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs11613495 VAR_018882 |
36 | V>A | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs11613495 | 36 | V>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200335803 | 36 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs775052841 | 37 | P>S | No |
ExAC TOPMed gnomAD |
|
rs200279711 | 38 | S>* | No |
ExAC TOPMed gnomAD |
|
rs200279711 | 38 | S>L | No |
ExAC TOPMed gnomAD |
|
rs1865752197 | 39 | P>L | No | TOPMed | |
rs770662346 | 40 | A>S | No |
ExAC gnomAD |
|
rs749551405 | 40 | A>V | No |
ExAC TOPMed gnomAD |
|
rs756228531 | 41 | G>D | No |
ExAC gnomAD |
|
rs777789412 | 41 | G>R | No |
ExAC gnomAD |
|
rs777789412 | 41 | G>S | No |
ExAC gnomAD |
|
rs1865751863 | 42 | T>I | No | Ensembl | |
rs1430310170 | 43 | R>C | No | TOPMed | |
rs1430310170 | 43 | R>G | No | TOPMed | |
COSM123163 rs373568166 |
43 | R>H | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM6136987 | 43 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 44 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1347976478 | 47 | T>M | No | gnomAD | |
rs1347976478 | 47 | T>R | No | gnomAD | |
rs11063156 | 48 | L>M | No | Ensembl | |
rs1565472603 | 49 | L>P | No | Ensembl | |
rs1337877742 | 50 | D>E | No | gnomAD | |
rs752067820 | 51 | S>* | No |
ExAC TOPMed gnomAD |
|
rs752067820 | 51 | S>L | No |
ExAC TOPMed gnomAD |
|
rs2137032801 | 51 | S>P | No | Ensembl | |
rs1176086971 | 53 | G>C | No | gnomAD | |
rs984090852 | 53 | G>D | No |
TOPMed gnomAD |
|
rs1176086971 | 53 | G>S | No | gnomAD | |
rs984090852 | 53 | G>V | No |
TOPMed gnomAD |
|
rs370482414 | 54 | W>* | No |
ESP ExAC gnomAD |
|
rs370482414 | 54 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
COSM6136988 | 54 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1394582963 | 55 | G>D | No | gnomAD | |
rs1865750977 | 55 | G>S | No | Ensembl | |
rs1321896007 | 56 | T>A | No | TOPMed | |
rs575676359 | 56 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs575676359 | 56 | T>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1321896007 | 56 | T>P | No | TOPMed | |
rs375947087 | 57 | L>V | No |
ESP TOPMed |
|
rs952218723 TCGA novel |
58 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs752187013 | 58 | L>P | No |
ExAC gnomAD |
|
rs759490846 | 59 | S>P | No |
ExAC gnomAD |
|
rs1865750174 | 60 | R>T | No | Ensembl | |
rs774228889 | 61 | S>C | No |
ExAC TOPMed gnomAD |
|
rs774228889 | 61 | S>Y | No |
ExAC TOPMed gnomAD |
|
COSM3812038 | 62 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs562208785 | 62 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM4684537 rs892861468 |
62 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs17183529 | 63 | A>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148657794 | 63 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1361678 rs148657794 |
63 | A>T | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs17183529 VAR_018883 COSM178933 |
63 | A>V | large_intestine [Cosmic] | No |
cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1865749268 | 64 | G>E | No | TOPMed | |
rs1040263555 | 64 | G>R | No |
TOPMed gnomAD |
|
COSM386489 | 64 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2137032684 | 67 | G>V | No | Ensembl | |
rs1402652408 | 68 | E>Q | No | gnomAD | |
rs1865748804 | 68 | E>V | No | Ensembl | |
rs1408911035 | 69 | I>T | No |
TOPMed gnomAD |
|
rs1158215717 | 70 | A>D | No | gnomAD | |
rs2137032662 | 70 | A>T | No | Ensembl | |
rs1158215717 | 70 | A>V | No | gnomAD | |
rs750821885 | 71 | G>A | No |
ExAC TOPMed gnomAD |
|
rs758962655 COSM4575397 |
71 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1591694086 | 72 | V>G | No | TOPMed | |
rs960925964 | 73 | N>D | No |
TOPMed gnomAD |
|
rs867341297 | 74 | W>C | No | Ensembl | |
rs1284475092 | 75 | E>A | No | gnomAD | |
rs1448230216 COSM3460948 |
75 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs767044753 | 76 | S>G | No |
ExAC TOPMed gnomAD |
|
rs1865747839 | 76 | S>N | No | Ensembl | |
rs758975759 | 77 | G>D | No |
ExAC gnomAD |
|
rs1222837591 | 78 | Y>C | No |
TOPMed gnomAD |
|
rs201208817 | 78 | Y>D | No | 1000Genomes | |
COSM3986921 | 79 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3986920 | 80 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2137032576 | 81 | G>R | No | Ensembl | |
rs751508514 | 83 | K>M | No |
ExAC gnomAD |
|
rs773667611 | 83 | K>N | No | Ensembl | |
rs912537551 | 83 | K>Q | No | Ensembl | |
rs762919183 | 84 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM4041946 rs373061794 |
84 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2137032551 | 85 | Q>* | No | Ensembl | |
rs780465055 | 86 | R>G | No |
ExAC TOPMed gnomAD |
|
rs373272192 | 86 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs780465055 COSM4041945 |
86 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2137032535 | 87 | R>W | No | Ensembl | |
rs1047038278 | 89 | Y>C | No |
TOPMed gnomAD |
|
rs776927964 | 89 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs2137032516 | 91 | N>T | No | Ensembl | |
rs780277371 | 92 | V>L | No |
ExAC TOPMed gnomAD |
|
rs780277371 | 92 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs147431575 | 93 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs1865746631 | 94 | I>L | No | gnomAD | |
rs201860096 | 94 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1412898446 | 94 | I>S | No | gnomAD | |
rs1412898446 | 94 | I>T | No | gnomAD | |
rs1865746631 | 94 | I>V | No | gnomAD | |
rs2137032489 | 95 | G>D | No | Ensembl | |
rs1476081901 | 95 | G>R | No |
TOPMed gnomAD |
|
rs1476081901 COSM5808996 |
95 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2137032482 | 96 | F>L | No | Ensembl | |
rs1591694016 | 97 | H>P | No | Ensembl | |
rs1187509229 | 97 | H>Q | No |
TOPMed gnomAD |
|
rs1242246869 | 97 | H>Y | No | gnomAD | |
rs757600194 | 98 | L>F | No |
ExAC gnomAD |
|
rs1865746111 | 99 | Q>L | No | Ensembl | |
rs1591694010 | 100 | V>G | No | Ensembl | |
rs1214643843 | 100 | V>L | No | gnomAD | |
rs1321500673 | 101 | L>F | No |
TOPMed gnomAD |
|
rs1565472408 | 102 | P>L | No | Ensembl | |
rs754609591 | 102 | P>S | No |
ExAC gnomAD |
|
rs2137032437 | 103 | D>A | No | Ensembl | |
rs758292506 | 103 | D>N | No |
ExAC TOPMed gnomAD |
|
COSM6136989 | 103 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761612677 | 104 | G>D | No |
ExAC gnomAD |
|
rs568105919 | 104 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs369471848 | 105 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199938701 | 105 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs369471848 | 105 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1865745147 | 106 | I>N | No |
TOPMed gnomAD |
|
rs1865745147 | 106 | I>S | No |
TOPMed gnomAD |
|
rs1162574593 | 107 | S>G | No | gnomAD | |
rs1236384347 | 107 | S>N | No |
TOPMed gnomAD |
|
rs1865744907 | 108 | G>E | No | TOPMed | |
rs1419606614 | 108 | G>R | No | gnomAD | |
rs1865744907 | 108 | G>V | No | TOPMed | |
rs2137032384 | 109 | T>P | No | Ensembl | |
rs1865744695 | 109 | T>S | No | gnomAD | |
COSM468369 | 110 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1447145095 | 110 | H>Q | No | gnomAD | |
rs1865744522 | 111 | E>A | No | TOPMed | |
rs746392824 | 111 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1865744522 | 111 | E>V | No | TOPMed | |
rs774854335 | 112 | E>K | No |
ExAC gnomAD |
|
rs771210347 | 113 | N>K | No |
ExAC gnomAD |
|
rs1245390500 | 113 | N>S | No | gnomAD | |
rs1245390500 | 113 | N>T | No | gnomAD | |
rs1193286982 | 113 | N>Y | No | TOPMed | |
rs1865744105 | 114 | P>L | No | Ensembl | |
rs749706231 | 116 | S>G | No |
ExAC TOPMed gnomAD |
|
rs771531962 | 116 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1167949833 | 117 | L>P | No |
TOPMed gnomAD |
|
rs139049599 | 120 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs377044251 | 122 | T>I | No |
ESP ExAC gnomAD |
|
rs1180612567 | 123 | V>A | No | gnomAD | |
rs746672335 COSM3384355 |
123 | V>M | Variant assessed as Somatic; MODERATE impact. pancreas haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1476511683 | 124 | E>K | No |
TOPMed gnomAD |
|
rs1476511683 | 124 | E>Q | No |
TOPMed gnomAD |
|
COSM275166 rs779702937 |
125 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM693930 rs532205756 |
125 | R>Q | lung Variant assessed as Somatic; MODERATE impact. urinary_tract [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs2137031606 COSM3968223 |
126 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes |
COSM939451 rs375876276 |
127 | V>M | endometrium [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1865728671 | 129 | S>R | No | gnomAD | |
TCGA novel | 130 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs148135963 | 130 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1318845637 | 131 | F>S | No | TOPMed | |
rs1226488676 | 132 | G>E | No | gnomAD | |
rs752875740 | 133 | V>G | No |
ExAC TOPMed gnomAD |
|
rs974386309 | 135 | S>T | No | Ensembl | |
rs1237427957 | 136 | A>G | No | gnomAD | |
rs1865728175 | 136 | A>T | No | Ensembl | |
rs1865728064 | 137 | L>F | No | TOPMed | |
COSM239873 rs759669908 |
139 | V>I | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs963085944 | 140 | A>S | No |
TOPMed gnomAD |
|
COSM4884377 rs963085944 |
140 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1477139038 | 140 | A>V | No |
TOPMed gnomAD |
|
rs1865727505 | 141 | M>K | No | TOPMed | |
rs1157479065 | 141 | M>V | No | gnomAD | |
rs1463359942 | 142 | N>D | No | gnomAD | |
rs149005865 | 142 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1422079813 | 143 | S>G | No |
TOPMed gnomAD |
|
rs569853562 | 143 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 145 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3460946 | 145 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1357543116 | 145 | G>R | No | gnomAD | |
rs776856016 | 147 | L>V | No |
ExAC gnomAD |
|
rs1565472003 | 147 | L>W | No | Ensembl | |
rs138991329 | 148 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
rs1406814273 | 148 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs145168026 | 149 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs140216440 | 150 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
COSM348670 | 151 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1565469324 | 152 | S>I | No | TOPMed | |
rs1565469324 | 152 | S>N | No | TOPMed | |
TCGA novel | 154 | Q>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3460945 | 154 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1332009777 | 155 | E>A | No |
TOPMed gnomAD |
|
rs530698141 | 157 | C>F | No |
1000Genomes gnomAD |
|
rs748009704 | 157 | C>R | No |
ExAC gnomAD |
|
rs530698141 | 157 | C>Y | No |
1000Genomes gnomAD |
|
rs1865604520 | 160 | R>* | No | Ensembl | |
rs781060929 | 160 | R>T | No |
ExAC gnomAD |
|
COSM939447 | 161 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs140796118 | 162 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs780317311 | 165 | P>L | No |
ExAC gnomAD |
|
rs1379688841 | 167 | N>K | No |
TOPMed gnomAD |
|
COSM4397202 | 169 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1027205381 | 170 | A>V | No | Ensembl | |
rs542608820 | 171 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs372503617 | 172 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs760889331 | 172 | E>G | No |
ExAC TOPMed gnomAD |
|
rs372503617 | 172 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1865603501 | 173 | S>* | No | Ensembl | |
rs7961645 | 174 | D>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1013679511 | 174 | D>E | No |
TOPMed gnomAD |
|
VAR_018884 COSM4147045 RCV001638856 rs7961645 |
174 | D>V | thyroid [Cosmic] | No |
cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
TCGA novel | 176 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1865603148 | 177 | Q>* | No | Ensembl | |
COSM693931 | 177 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2137025069 | 177 | Q>R | No | Ensembl | |
rs538985259 | 180 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1865602716 | 181 | I>T | No |
TOPMed gnomAD |
|
rs1337930478 | 181 | I>V | No |
TOPMed gnomAD |
|
rs748123118 | 182 | A>S | No |
ExAC gnomAD |
|
TCGA novel | 182 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs746850556 COSM3764418 |
187 | G>R | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs71583765 | 188 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3688207 rs71583765 |
188 | R>Q | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs142642694 COSM431121 |
188 | R>W | large_intestine breast [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs757215677 | 189 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1324420921 | 189 | V>L | No | TOPMed | |
rs372807700 COSM1252416 |
191 | R>Q | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD |
rs17183778 VAR_018885 |
191 | R>W | No |
UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs868450985 | 192 | G>S | No | Ensembl | |
rs754902494 | 192 | G>V | No |
ExAC TOPMed gnomAD |
|
rs756639377 | 193 | S>R | No |
ExAC TOPMed gnomAD |
|
rs147421559 | 195 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs147421559 | 195 | V>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1214676658 | 195 | V>L | No | Ensembl | |
rs772957912 | 196 | S>F | No |
ExAC gnomAD |
|
rs567606742 | 197 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs567606742 | 197 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs567606742 | 197 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1228309395 | 198 | I>N | No |
TOPMed gnomAD |
|
rs2137024991 | 198 | I>V | No | Ensembl | |
rs768516368 | 199 | M>I | No |
ExAC gnomAD |
|
rs368545163 | 200 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs775289727 | 201 | V>I | No |
ExAC TOPMed gnomAD |
|
rs771816989 | 202 | T>S | No |
ExAC gnomAD |
|
rs936944465 | 203 | H>L | No | Ensembl | |
COSM299936 | 203 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs746093109 | 203 | H>Y | No |
ExAC gnomAD |
|
rs1370920223 | 207 | R>S | No |
TOPMed gnomAD |
|
rs144536126 | 208 | I>T | No |
ESP ExAC TOPMed gnomAD |
No associated diseases with P10767
No regional properties for P10767
Type | Name | Position | InterPro Accession |
---|---|---|---|
No domain, repeats, and functional sites for P10767 |
4 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
2 GO annotations of molecular function
Name | Definition |
---|---|
fibroblast growth factor receptor binding | Binding to a fibroblast growth factor receptor (FGFR). |
growth factor activity | The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. |
11 GO annotations of biological process
Name | Definition |
---|---|
angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
cartilage condensation | The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes. |
cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
fibroblast growth factor receptor signaling pathway | The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands. |
myoblast differentiation | The process in which a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers. |
positive regulation of cell division | Any process that activates or increases the frequency, rate or extent of cell division. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of gene expression | Any process that increases 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). |
positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
28 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P48801 | FGF3 | Fibroblast growth factor 3 | Gallus gallus (Chicken) | SS |
O15520 | FGF10 | Fibroblast growth factor 10 | Homo sapiens (Human) | SS |
O43320 | FGF16 | Fibroblast growth factor 16 | Homo sapiens (Human) | EV SS |
P11487 | FGF3 | Fibroblast growth factor 3 | Homo sapiens (Human) | SS |
P31371 | FGF9 | Fibroblast growth factor 9 | Homo sapiens (Human) | EV |
Q92914 | FGF11 | Fibroblast growth factor 11 | Homo sapiens (Human) | SS |
Q9HCT0 | FGF22 | Fibroblast growth factor 22 | Homo sapiens (Human) | SS |
Q9NP95 | FGF20 | Fibroblast growth factor 20 | Homo sapiens (Human) | SS |
Q9NSA1 | FGF21 | Fibroblast growth factor 21 | Homo sapiens (Human) | PR |
P08620 | FGF4 | Fibroblast growth factor 4 | Homo sapiens (Human) | PR |
Q9ESS2 | Fgf22 | Fibroblast growth factor 22 | Mus musculus (Mouse) | SS |
O35565 | Fgf10 | Fibroblast growth factor 10 | Mus musculus (Mouse) | SS |
P54130 | Fgf9 | Fibroblast growth factor 9 | Mus musculus (Mouse) | SS |
Q9JJN1 | Fgf21 | Fibroblast growth factor 21 | Mus musculus (Mouse) | PR |
Q9ESL8 | Fgf16 | Fibroblast growth factor 16 | Mus musculus (Mouse) | SS |
Q9ESL9 | Fgf20 | Fibroblast growth factor 20 | Mus musculus (Mouse) | SS |
P11403 | Fgf4 | Fibroblast growth factor 4 | Mus musculus (Mouse) | PR |
P61329 | Fgf12 | Fibroblast growth factor 12 | Mus musculus (Mouse) | PR |
P05524 | Fgf3 | Fibroblast growth factor 3 | Mus musculus (Mouse) | SS |
P21658 | Fgf6 | Fibroblast growth factor 6 | Mus musculus (Mouse) | SS |
Q95L12 | FGF9 | Fibroblast growth factor 9 | Sus scrofa (Pig) | SS |
Q9EST9 | Fgf20 | Fibroblast growth factor 20 | Rattus norvegicus (Rat) | SS |
O54769 | Fgf16 | Fibroblast growth factor 16 | Rattus norvegicus (Rat) | SS |
P36364 | Fgf9 | Fibroblast growth factor 9 | Rattus norvegicus (Rat) | SS |
P70492 | Fgf10 | Fibroblast growth factor 10 | Rattus norvegicus (Rat) | SS |
Q6PBT8 | fgf1 | Putative fibroblast growth factor 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
Q2HXK8 | fgf16 | Fibroblast growth factor 16 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
P48802 | fgf3 | Fibroblast growth factor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MALGQKLFIT | MSRGAGRLQG | TLWALVFLGI | LVGMVVPSPA | GTRANNTLLD | SRGWGTLLSR |
70 | 80 | 90 | 100 | 110 | 120 |
SRAGLAGEIA | GVNWESGYLV | GIKRQRRLYC | NVGIGFHLQV | LPDGRISGTH | EENPYSLLEI |
130 | 140 | 150 | 160 | 170 | 180 |
STVERGVVSL | FGVRSALFVA | MNSKGRLYAT | PSFQEECKFR | ETLLPNNYNA | YESDLYQGTY |
190 | 200 | ||||
IALSKYGRVK | RGSKVSPIMT | VTHFLPRI |