P49279
PR
Gene name |
SLC11A1 (LSH, NRAMP, NRAMP1) |
Protein name |
Natural resistance-associated macrophage protein 1 |
Names |
Allergen Der p VII, Allergen Der f III, Allergen Der f VI, DF5, Allergen Der p II, DPX, NRAMP 1, Solute carrier family 11 member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6556 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P49279
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P49279-F1 | Predicted | AlphaFoldDB |
534 variants for P49279
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2105083 RCV000791139 rs754247821 |
269 | I>T | Mycobacterium tuberculosis, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA120239 VAR_004631 RCV000009814 rs17235409 |
543 | D>N | Buruli ulcer, susceptibility to associated with susceptibility to infection with Mycobacterium ulcerans [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs1389692046 | 2 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2104701 rs551043157 |
2 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350540814 rs1235586834 |
3 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2104724 rs751923972 |
9 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2104723 rs764382517 |
9 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2104722 rs763570124 |
9 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350540900 rs1199923641 |
11 | S>G | No |
ClinGen gnomAD |
|
|
rs781414798 CA2104726 |
12 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756118384 CA2104728 |
13 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs763011681 CA65764654 |
15 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780249334 CA2104730 |
16 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs772063285 CA2104732 |
18 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401292345 CA350540998 |
19 | S>F | No |
ClinGen TOPMed |
|
|
CA2104736 rs746836539 |
20 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770894617 CA2104737 |
21 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350541032 rs1419087517 |
22 | T>S | No |
ClinGen TOPMed |
|
|
CA350541040 rs1402509899 |
23 | S>N | No |
ClinGen gnomAD |
|
|
CA2104740 rs769170673 |
23 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2104741 rs142054519 |
24 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA65764742 rs1024046691 |
27 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA65764745 rs947680543 |
29 | P>L | No |
ClinGen Ensembl |
|
|
rs764615564 CA2104743 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 29 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280788680 CA350541117 |
30 | Q>* | No |
ClinGen gnomAD |
|
|
VAR_004629 rs751872662 CA2104744 |
30 | Q>R | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs562681370 CA2104746 |
32 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2104747 rs750608283 |
35 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1392673449 CA350541189 |
36 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA65764761 rs903422554 |
36 | E>D | No |
ClinGen gnomAD |
|
|
rs1559114707 CA350541184 |
36 | E>K | No |
ClinGen Ensembl |
|
|
CA350541199 rs1341185377 |
37 | T>S | No |
ClinGen gnomAD |
|
|
CA2104749 rs766315037 |
38 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350541225 rs1460829430 |
39 | L>P | No |
ClinGen gnomAD |
|
|
CA350541236 rs1374366130 |
40 | S>N | No |
ClinGen gnomAD |
|
|
CA2104753 rs371962261 |
42 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2104754 rs757110423 |
45 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1373199345 CA350541305 |
45 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2104755 rs781188999 |
48 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs745451664 CA2104756 |
49 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2104757 rs769490777 |
50 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350541359 rs1354751101 |
50 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 51 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748941673 CA350541737 |
51 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2104778 rs748941673 |
51 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413694246 CA350541740 |
51 | G>V | No |
ClinGen TOPMed |
|
|
CA2104779 rs768140799 |
53 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA65765275 rs144642978 CA2104781 |
54 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350541754 rs1168169998 |
54 | S>R | No |
ClinGen gnomAD |
|
|
CA65765271 rs369701314 |
54 | S>T | No |
ClinGen gnomAD |
|
|
rs761128525 CA2104784 |
56 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141992116 CA2104783 |
56 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759908456 CA2104787 |
59 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2104788 rs765343802 |
59 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350541804 rs752840408 |
62 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752840408 CA2104789 |
62 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371892878 CA2104791 |
63 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA2104792 rs750367937 COSM1530923 |
64 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1271009101 CA350541837 |
68 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1361121063 CA350541848 |
69 | S>N | No |
ClinGen gnomAD |
|
|
CA2104795 rs142874131 |
70 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350541855 rs1433970079 |
70 | I>V | No |
ClinGen gnomAD |
|
|
rs754628001 CA2104796 |
73 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA350541876 rs754628001 |
73 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs778334000 CA2104797 |
74 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65765314 rs868076099 |
78 | I>M | No |
ClinGen TOPMed |
|
|
rs772415750 CA2104799 |
78 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778308131 CA2104800 |
79 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771325628 CA2104803 |
81 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771325628 CA2104802 |
81 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775673455 CA2104807 CA2104806 |
83 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs770165018 CA2104805 |
83 | Q>R | No |
ClinGen ExAC |
|
|
CA2104808 rs764130333 |
84 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350541940 rs764130333 |
84 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2104811 rs760595815 |
86 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760595815 CA2104810 |
86 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200995084 CA2104812 |
87 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200307655 CA2104814 |
88 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200307655 CA2104813 |
88 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563187923 CA350541966 |
89 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2104816 rs563187923 |
89 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350541977 rs1482022464 |
91 | K>E | No |
ClinGen TOPMed |
|
|
rs1215659564 CA350542075 |
92 | L>P | No |
ClinGen gnomAD |
|
|
rs780632565 CA2104843 |
99 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768772173 CA2104845 |
101 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs900584867 CA65765831 |
101 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA350542309 rs1416775773 |
105 | L>F | No |
ClinGen gnomAD |
|
|
rs772176705 CA2104848 |
106 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2104849 rs201488858 |
107 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200779624 CA350542355 |
107 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1381151289 CA350542362 |
108 | R>* | No |
ClinGen gnomAD |
|
|
CA2104851 rs532410275 |
108 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs369791918 CA2104853 |
109 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369791918 CA350542378 |
109 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350542398 rs1293012705 |
111 | A>G | No |
ClinGen gnomAD |
|
|
CA2104854 rs370095260 COSM1530922 |
112 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2104855 rs139900230 |
112 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370095260 CA350542402 |
112 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756700822 CA2104856 |
114 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750961294 CA350542442 |
115 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750961294 COSM164348 CA2104858 |
115 | V>M | Variant assessed as Somatic; 0.0 impact. NS breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA65765935 rs377392313 |
116 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 118 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65765939 rs868629606 |
118 | G>S | No |
ClinGen TOPMed |
|
|
CA2104859 rs756693857 |
119 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs780508015 CA2104860 |
120 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1248210523 CA350542556 |
121 | L>W | No |
ClinGen TOPMed |
|
|
rs749634201 CA2104861 |
122 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2104863 rs375958099 |
123 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2104864 rs748447891 |
125 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2104865 rs748447891 |
125 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350542644 rs1368683722 |
125 | C>S | No |
ClinGen gnomAD |
|
|
rs745750989 CA2104868 |
126 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1559116892 CA350542667 |
126 | H>Y | No |
ClinGen Ensembl |
|
|
rs775318632 CA2104870 |
128 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370454105 CA2104869 |
128 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312657632 CA350542748 |
129 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs199945832 CA2104871 |
130 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772031291 CA2104916 |
132 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574765770 CA350543648 |
133 | P>L | No |
ClinGen Ensembl |
|
|
CA2104917 rs201910426 |
134 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA65767189 rs1024056581 |
134 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs746714183 CA65767195 |
135 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350543681 rs1574765797 |
135 | T>P | No |
ClinGen Ensembl |
|
|
rs746714183 CA2104918 |
135 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65767235 rs1034160155 |
136 | V>D | No |
ClinGen Ensembl |
|
|
CA2104920 rs529909528 |
136 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2104921 rs759915231 |
139 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1416225319 CA350543761 |
140 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 140 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65767243 rs530669474 |
142 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350543795 rs530669474 |
142 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1344554389 CA350543813 |
143 | L>V | No |
ClinGen gnomAD |
|
|
CA2104923 rs764294063 |
145 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA350543833 rs1299807527 |
145 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1340830907 CA350543868 |
148 | S>F | No |
ClinGen gnomAD |
|
|
rs145071313 CA2104925 |
149 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380864255 CA350543901 |
150 | M>I | No |
ClinGen gnomAD |
|
|
CA350543889 rs1386424968 |
150 | M>V | No |
ClinGen TOPMed |
|
|
rs764502812 CA2104926 |
151 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2104927 rs751778521 |
153 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA350543966 rs1287354460 |
155 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350543977 rs1170030499 |
156 | T>A | No |
ClinGen TOPMed |
|
|
rs143294002 CA65767252 |
156 | T>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2104930 rs750537920 |
157 | A>T | No |
ClinGen ExAC |
|
|
rs141932707 CA2104932 |
158 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754830948 CA2104931 |
158 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563632925 CA2104934 |
161 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350544059 rs1437759230 |
162 | L>M | No |
ClinGen gnomAD |
|
|
rs758251194 CA2104935 |
162 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2104936 rs151164925 |
164 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350544096 rs1433926721 |
165 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369053258 CA2104937 |
167 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350544114 rs770642709 |
167 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2104938 rs770642709 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252383212 CA350544168 |
168 | I>V | No |
ClinGen gnomAD |
|
|
CA350544174 rs779546031 |
169 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779546031 CA2104961 |
169 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749738584 CA2104962 |
171 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs933217084 COSM41110 CA65767722 |
174 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2104965 rs762207067 |
176 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1466824924 CA350544234 |
179 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs150015128 CA2104966 |
180 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145226482 CA2104968 |
182 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs893902967 CA65767774 |
186 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1054657696 CA65767768 |
186 | F>L | No |
ClinGen gnomAD |
|
|
CA65767779 rs1010973106 |
190 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs751514776 CA2104993 |
191 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2104969 rs760870748 |
191 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1426477290 CA350544336 |
192 | L>P | No |
ClinGen gnomAD |
|
|
rs1469171142 CA350544343 |
194 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1362974823 | 199 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358670849 CA350544382 |
199 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 199 | F>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767285034 CA2104995 |
200 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312600273 CA350544397 |
202 | L>I | No |
ClinGen gnomAD |
|
|
rs750210171 CA2104996 |
202 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2104997 rs755724251 |
203 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA350544408 rs1574767888 |
204 | T>P | No |
ClinGen Ensembl |
|
|
rs1335305504 CA350544435 |
207 | A>V | No |
ClinGen gnomAD |
|
|
CA2104998 rs765983033 |
209 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1163090877 CA350544450 |
210 | F>V | No |
ClinGen gnomAD |
|
|
rs778352764 CA350544466 |
212 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367630718 CA2105000 |
212 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs1574767937 CA350544463 |
212 | Y>H | No |
ClinGen Ensembl |
|
|
CA65768053 rs367630718 |
212 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
CA2105028 rs181431210 |
215 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299524215 CA350544564 |
216 | V>M | No |
ClinGen TOPMed |
|
|
CA65768293 rs1030045278 |
217 | A>V | No |
ClinGen Ensembl |
|
|
CA65768300 rs890059396 |
220 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA350544617 rs1297288244 |
220 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1339449772 CA350544612 |
220 | E>Q | No |
ClinGen gnomAD |
|
|
rs749299062 COSM1494831 CA350544625 |
221 | Q>* | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768828654 CA2105031 |
221 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs749299062 CA2105030 |
221 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1220140942 CA350544640 |
222 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA350544654 rs1264249481 |
223 | A>G | No |
ClinGen gnomAD |
|
|
CA350544648 rs1342505906 |
223 | A>P | No |
ClinGen gnomAD |
|
|
rs1264249481 CA350544653 |
223 | A>V | No |
ClinGen gnomAD |
|
|
rs1489723770 CA350544656 |
224 | L>I | No |
ClinGen gnomAD |
|
|
CA350544672 rs1262853227 |
225 | L>F | No |
ClinGen gnomAD |
|
|
CA350544675 rs1244784021 |
225 | L>P | No |
ClinGen gnomAD |
|
|
CA65768328 rs1007528005 |
226 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA65768313 rs1007528005 |
226 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2105033 rs760672133 |
226 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs766095279 CA2105034 |
227 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105036 rs776420245 |
229 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866017571 CA65768343 |
229 | F>S | No |
ClinGen Ensembl |
|
|
CA2105040 rs762359309 |
232 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65768352 rs867987748 |
233 | C>G | No |
ClinGen Ensembl |
|
| TCGA novel | 233 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65768356 rs962877952 |
234 | P>R | No |
ClinGen Ensembl |
|
|
CA350545177 rs1359727668 |
236 | C>Y | No |
ClinGen gnomAD |
|
|
rs972866171 CA65768372 |
237 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2105041 rs763731326 |
239 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2105042 rs752049505 |
240 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757854231 CA2105043 |
244 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105044 rs781648780 |
244 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199671081 CA65768445 |
245 | V>G | No |
ClinGen Ensembl |
|
|
rs1285929688 CA350545297 |
246 | G>A | No |
ClinGen gnomAD |
|
|
rs1285929688 CA350545295 |
246 | G>D | No |
ClinGen gnomAD |
|
|
CA350545317 rs1487537783 |
248 | V>I | No |
ClinGen gnomAD |
|
|
rs1219220316 CA350545325 |
249 | G>S | No |
ClinGen gnomAD |
|
|
rs981137627 CA65768490 |
250 | A>T | No |
ClinGen Ensembl |
|
|
CA350545369 rs1336516202 |
252 | I>V | No |
ClinGen TOPMed |
|
|
rs1180199725 CA350545394 |
253 | M>I | No |
ClinGen gnomAD |
|
|
rs768614385 CA2105049 |
253 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1415977421 CA350545407 |
254 | P>A | No |
ClinGen gnomAD |
|
|
CA2105050 rs778967527 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1379579937 CA350545419 |
255 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs770872795 CA2105052 |
256 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA350545451 rs541773273 |
257 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201709642 CA2105055 |
257 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1338015024 CA350545455 |
257 | I>T | No |
ClinGen TOPMed |
|
|
rs541773273 CA2105053 |
257 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2105056 rs775004023 CA350545472 |
258 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105057 rs762675335 |
259 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs575411596 CA2105058 |
260 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751137810 COSM1405456 CA2105059 |
261 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2105061 rs201050870 |
265 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773586633 CA2105080 |
267 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs773586633 CA350545609 |
267 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA350545610 rs573763910 |
267 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2105081 rs573763910 |
267 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs140659502 CA2105082 |
268 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754247821 CA2105084 |
269 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350545627 rs1574772275 |
270 | D>A | No |
ClinGen Ensembl |
|
|
rs147508271 CA2105086 |
271 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2105085 rs765411619 |
271 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2105088 rs777838046 |
272 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273662216 CA350545637 |
272 | A>T | No |
ClinGen gnomAD |
|
|
CA65769936 rs1003777205 |
273 | R>C | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs367760213 CA2105089 |
273 | R>H | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2105090 rs367760213 |
273 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs572756670 CA2105093 |
274 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572756670 CA2105092 |
274 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371489451 CA350545703 |
274 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371489451 CA2105094 |
274 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA2105096 rs774135476 |
275 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771640591 CA2105098 |
276 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2105100 rs761038763 |
277 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA350545727 rs766937222 |
277 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA350545729 rs766937222 |
277 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2105101 rs766937222 |
277 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777040186 CA2105102 |
286 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759868778 CA2105103 |
287 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA65770035 rs1010181545 |
289 | T>A | No |
ClinGen TOPMed |
|
|
rs139480250 CA65770039 |
291 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 292 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145536242 CA2105106 |
292 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2105108 rs143475636 |
293 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2105110 rs140981969 COSM720002 |
294 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA350545980 rs1574772559 |
298 | I>T | No |
ClinGen Ensembl |
|
|
CA2105111 rs546865976 |
299 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2105112 rs754814800 |
300 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs138751863 CA2105114 |
303 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs562080206 CA2105113 |
303 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771873667 CA2105115 |
304 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2105116 rs772552578 |
305 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746493856 CA2105117 |
306 | F>C | No |
ClinGen ExAC |
|
|
rs150192588 CA65770094 |
306 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA350546243 rs1234627481 |
307 | G>A | No |
ClinGen TOPMed |
|
|
CA350546273 COSM476912 rs777180010 |
309 | A>D | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs529483125 CA2105118 |
309 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2105119 rs777180010 |
309 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920282747 CA65770102 |
311 | Y>C | No |
ClinGen gnomAD |
|
|
rs550942889 CA2105120 |
312 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350546483 rs1400156427 |
315 | N>I | No |
ClinGen TOPMed |
|
|
CA65770109 rs778349664 |
315 | N>K | No |
ClinGen gnomAD |
|
|
rs775858222 CA2105122 |
317 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 318 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201565523 VAR_004630 CA2105123 |
318 | A>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs761944264 CA350546699 |
319 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1271992709 CA350546741 |
322 | C>Y | No |
ClinGen TOPMed |
|
|
rs749493884 CA2105145 CA65770823 |
324 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105148 rs377625960 |
328 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759505699 CA2105147 |
328 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA65770824 rs369115323 |
328 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs533552349 CA2105149 |
329 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149379697 CA2105150 |
331 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs1574774614 CA350546872 |
334 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA350546892 rs1300255469 |
335 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2105152 rs560522708 |
336 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2105151 rs200610538 |
336 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM442309 rs756884699 CA2105153 |
337 | N>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2105155 rs745355049 |
339 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574774670 CA350546955 |
340 | T>P | No |
ClinGen Ensembl |
|
|
rs769343240 COSM2148939 CA2105157 |
341 | V>M | central_nervous_system Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780526133 CA2105158 COSM1614357 |
342 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1574774722 CA350547001 |
343 | V>G | No |
ClinGen Ensembl |
|
|
CA2105160 rs140098828 |
343 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1180925135 CA350547033 |
345 | I>T | No |
ClinGen TOPMed |
|
|
rs1574774743 CA350547046 |
346 | Y>S | No |
ClinGen Ensembl |
|
|
CA350547064 rs1444411914 |
347 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350547072 rs1574774767 |
348 | G>R | No |
ClinGen Ensembl |
|
| rs148796215 | 349 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2105189 rs767369940 |
349 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs765823196 CA2105192 |
350 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000898987 CA2105191 rs141861983 |
350 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs367855750 CA2105194 |
353 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350547148 rs1036498512 |
355 | L>P | No |
ClinGen TOPMed |
|
|
rs1036498512 CA65770974 |
355 | L>Q | No |
ClinGen TOPMed |
|
|
rs779260974 CA2105195 |
356 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2105197 rs538445435 |
357 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565399059 CA2105202 |
359 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2105200 rs113329627 |
359 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113329627 CA65771007 |
359 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2105201 rs565399059 |
359 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350547241 rs1454039329 |
360 | A>T | No |
ClinGen gnomAD |
|
|
CA2105204 rs774154922 |
361 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771798778 CA2105206 |
362 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 363 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773010770 CA2105207 |
364 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs760277648 CA2105208 |
366 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1184204994 CA350547425 |
369 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs371722637 CA2105212 |
370 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371722637 CA2105211 |
370 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2105214 rs758985318 |
371 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs758985318 CA350547446 |
371 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778245262 CA2105215 |
372 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350547516 rs1407747739 |
375 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2105217 rs757746030 |
376 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA65771120 rs983978282 |
377 | M>K | No |
ClinGen TOPMed |
|
|
CA350547559 rs983978282 |
377 | M>T | No |
ClinGen TOPMed |
|
|
CA65771125 rs1032261832 |
378 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs191066713 CA350547651 |
381 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2105222 rs371359025 |
382 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780198644 CA350547656 |
382 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780198644 CA2105221 |
382 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350547677 rs371359025 |
382 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773170357 CA2105224 |
383 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA350547707 rs1257369515 |
384 | Q>* | No |
ClinGen gnomAD |
|
|
CA2105225 rs760437105 |
385 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105227 rs141050730 |
385 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350547767 rs368600034 |
386 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2105228 rs368600034 |
386 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2105230 rs764592563 |
387 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA2105229 rs764592563 |
387 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA2105231 rs762594408 |
388 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2105262 rs375775521 |
389 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350548514 rs1390634338 |
393 | L>P | No |
ClinGen gnomAD |
|
|
rs145676383 CA350548527 |
394 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145676383 CA2105268 |
394 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372038044 CA2105266 |
394 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320864103 CA350548542 |
395 | W>* | No |
ClinGen gnomAD |
|
|
CA350548536 rs1357752731 |
395 | W>* | No |
ClinGen gnomAD |
|
|
rs1574778190 CA350548534 |
395 | W>G | No |
ClinGen Ensembl |
|
|
CA350548551 rs1204964198 |
396 | S>A | No |
ClinGen gnomAD |
|
|
CA2105269 rs74906275 COSM3782121 |
397 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA350548570 rs74906275 |
397 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775277081 CA2105270 |
397 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775277081 CA350548574 |
397 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140431789 CA350548593 |
399 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2105272 rs140431789 |
399 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774024940 CA2105273 |
400 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105274 rs566202998 |
400 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774024940 CA65774861 |
400 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 403 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350548646 rs1574778300 |
404 | T>P | No |
ClinGen Ensembl |
|
|
CA2105275 rs768035351 |
405 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105276 rs768035351 |
405 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536970437 CA2105277 |
405 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350548657 rs768035351 |
405 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350548667 rs1296369288 |
406 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350548684 rs1471814104 |
408 | A>G | No |
ClinGen TOPMed |
|
|
CA2105279 rs753991920 |
408 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA350548689 rs1574778372 |
409 | I>N | No |
ClinGen Ensembl |
|
|
CA350548702 rs1189102995 |
410 | L>P | No |
ClinGen gnomAD |
|
|
rs1224827045 CA350548738 |
413 | V>E | No |
ClinGen gnomAD |
|
|
COSM292239 rs918509800 CA65774891 |
413 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2105283 rs766693828 |
414 | L>A | No |
ClinGen ExAC |
|
|
CA350548747 rs1283308347 |
414 | L>F | No |
ClinGen gnomAD |
|
|
rs201320315 CA65774901 |
415 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201320315 CA2105285 |
415 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253560382 CA350548769 |
416 | A>S | No |
ClinGen gnomAD |
|
|
CA2105287 rs77624405 |
419 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA65774905 rs147071155 |
419 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350548847 rs1267072677 |
420 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1574778528 CA350548835 |
420 | D>G | No |
ClinGen Ensembl |
|
|
rs897918429 CA65774909 |
420 | D>Y | No |
ClinGen TOPMed |
|
|
rs1457517822 CA350548864 |
421 | L>P | No |
ClinGen gnomAD |
|
|
CA2105288 rs200591274 |
422 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350548884 rs1262640966 |
423 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs748905197 CA2105289 |
423 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2105290 rs768456404 |
425 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149431337 CA2105292 |
428 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771537493 CA2105293 |
430 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1358152423 CA350548982 |
431 | L>F | No |
ClinGen TOPMed |
|
|
rs773760772 CA350549017 |
433 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105294 rs773760772 |
433 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303379328 CA350549044 |
434 | L>P | No |
ClinGen gnomAD |
|
|
rs761087859 CA2105295 |
435 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380000981 CA350549066 |
435 | Q>H | No |
ClinGen gnomAD |
|
|
rs1298398663 CA350549085 |
436 | S>T | No |
ClinGen gnomAD |
|
|
CA65774942 rs563363075 |
437 | L>V | No |
ClinGen Ensembl |
|
|
CA2105316 rs777161870 |
440 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 441 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770212453 CA350549811 |
442 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2105321 rs770212453 |
442 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17215556 CA2105325 RCV000969348 |
443 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs17215556 CA350549825 |
443 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145979016 CA2105324 |
443 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350549834 rs1408890214 |
444 | L>P | No |
ClinGen gnomAD |
|
|
rs1352926123 CA350549845 |
445 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1352926123 CA350549847 |
445 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762026701 CA2105326 |
448 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572949819 CA350549907 CA350549906 |
452 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs572949819 CA2105328 |
452 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA350549916 rs1371616476 |
453 | P>A | No |
ClinGen gnomAD |
|
|
rs754813133 CA2105329 |
453 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350549914 COSM3709411 rs1371616476 |
453 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs752332718 CA350549923 |
454 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752332718 CA2105331 |
454 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1386117259 CA350549932 |
456 | M>L | No |
ClinGen TOPMed |
|
|
CA350549934 rs1261208430 |
456 | M>T | No |
ClinGen gnomAD |
|
|
CA2105333 rs777296654 |
458 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757401132 CA65775532 |
458 | E>G | No |
ClinGen Ensembl |
|
|
CA2105334 rs746468436 |
459 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232146198 CA350549958 |
459 | F>L | No |
ClinGen gnomAD |
|
|
CA350549964 rs1298829373 |
460 | A>G | No |
ClinGen TOPMed |
|
|
rs756807640 CA2105335 |
461 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs147035370 CA2105336 |
461 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350549975 rs1398457878 |
462 | G>D | No |
ClinGen TOPMed |
|
|
rs1305181098 CA350550051 |
464 | L>M | No |
ClinGen gnomAD |
|
|
rs780654450 CA2105359 |
465 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1470574047 CA350550071 |
465 | N>S | No |
ClinGen TOPMed |
|
|
rs924301427 CA65775871 |
466 | K>E | No |
ClinGen TOPMed |
|
|
rs148356067 CA2105362 COSM330427 |
467 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs372696535 CA2105365 |
468 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350550119 rs1574781859 |
469 | T>P | No |
ClinGen Ensembl |
|
|
CA65775890 rs200015167 |
470 | S>P | No |
ClinGen 1000Genomes |
|
|
rs759505458 CA2105366 |
471 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs943215404 CA65775898 |
473 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 474 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 474 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 474 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762641179 CA2105369 |
478 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775545992 CA2105368 |
478 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762641179 CA350550195 |
478 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316716684 CA350550197 |
479 | I>V | No |
ClinGen TOPMed |
|
|
rs377166486 CA2105371 |
480 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377166486 CA65775912 |
480 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1358326431 CA350550215 |
481 | L>F | No |
ClinGen TOPMed |
|
|
rs1318675986 CA350550229 |
482 | Y>H | No |
ClinGen TOPMed |
|
|
CA2105376 rs780416444 |
484 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs138316650 CA2105374 |
484 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138316650 CA2105375 |
484 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA350550269 rs1221694811 |
485 | V>I | No |
ClinGen gnomAD |
|
|
COSM1530921 rs139317500 CA65775930 |
487 | Y>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2105377 rs139317500 |
487 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755226536 CA2105378 |
488 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 491 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350550382 rs1574782086 |
493 | H>P | No |
ClinGen Ensembl |
|
|
rs964656572 CA65775932 |
493 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs772453265 CA2105381 |
496 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1263533984 CA350550442 |
497 | F>L | No |
ClinGen gnomAD |
|
|
CA2105382 rs142636978 RCV000906819 |
498 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs747063589 CA2105383 |
500 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350550481 rs1281600442 |
501 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2105384 rs370510357 |
503 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 504 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2105386 rs554815475 |
505 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 506 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350550551 rs1559126349 |
507 | Y>H | No |
ClinGen Ensembl |
|
|
rs771780101 CA2105388 |
509 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774163724 CA2105389 |
510 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761639098 CA350550593 |
510 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2105390 rs761639098 |
510 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs373508010 CA2105391 |
511 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2105392 rs750137556 |
512 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2105394 rs182057473 |
513 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760103203 CA2105393 |
513 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2105395 rs754236278 |
514 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2105419 rs764567103 |
516 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs751683612 CA2105420 |
517 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350550666 rs751683612 |
517 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542348226 CA65776115 |
519 | C>S | No |
ClinGen Ensembl |
|
|
CA2105422 rs781310856 |
520 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1574782790 CA350550693 |
521 | A>V | No |
ClinGen Ensembl |
|
|
CA350550700 rs144481462 |
522 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA350550704 rs1302109775 |
523 | G>E | No |
ClinGen gnomAD |
|
|
rs142604013 CA2105424 COSM3426085 |
523 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA350550718 rs1244527102 |
525 | T>I | No |
ClinGen gnomAD |
|
|
rs1574782824 CA350550715 |
525 | T>P | No |
ClinGen Ensembl |
|
|
CA2105425 rs778822154 |
527 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778822154 CA350550730 |
527 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771792634 CA2105427 |
529 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA2105430 rs746599306 |
538 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA350550810 rs1427787225 |
539 | L>V | No |
ClinGen TOPMed |
|
|
rs1289836338 CA350550818 |
540 | L>P | No |
ClinGen gnomAD |
|
|
rs1222189247 CA350550821 |
541 | E>K | No |
ClinGen gnomAD |
|
|
CA2105432 rs776194696 |
542 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2105433 rs17235409 |
543 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267978689 CA350550849 |
544 | Q>R | No |
ClinGen gnomAD |
|
|
CA2105435 rs763577706 |
545 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1449820002 CA350550882 |
547 | E>K | No |
ClinGen gnomAD |
|
|
rs1162559913 CA350550905 |
548 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1458995503 CA350550927 |
550 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1458995503 CA350550925 |
550 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA350550920 rs1363283343 |
550 | G>S | No |
ClinGen gnomAD |
No associated diseases with P49279
No regional properties for P49279
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P49279 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| ficolin-1-rich granule membrane | The lipid bilayer surrounding a ficolin-1-rich granule. |
| integral component of plasma membrane | The component of the plasma 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. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| tertiary granule membrane | The lipid bilayer surrounding a tertiary granule. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadmium ion transmembrane transporter activity | Enables the transfer of cadmium (Cd) ions from one side of a membrane to the other. |
| iron ion transmembrane transporter activity | Enables the transfer of iron (Fe) ions from one side of a membrane to the other. |
| manganese ion transmembrane transporter activity | Enables the transfer of manganese (Mn) ions from one side of a membrane to the other. |
| metal cation:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: metal ion(in) + H+(out) = metal ion(out) + H+(in). |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| transition metal ion transmembrane transporter activity | Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. |
38 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| antigen processing and presentation of peptide antigen | The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. |
| antimicrobial humoral response | An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus. |
| cadmium ion transmembrane transport | A process in which a cadmium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| cell redox homeostasis | Any process that maintains the redox environment of a cell or compartment within a cell. |
| cellular cadmium ion homeostasis | Any process involved in the maintenance of an internal steady state of cadmium ions at the level of a cell. |
| cellular iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| defense response to Gram-negative bacterium | Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism. |
| defense response to protozoan | Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. |
| iron ion transport | The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| L-arginine transmembrane transport | The directed movement of L-arginine across a membrane. |
| macrophage activation | A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. |
| manganese ion transport | The directed movement of manganese (Mn) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| metal ion transport | The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| MHC class II biosynthetic process | The chemical reactions and pathways resulting in the formation of major histocompatibility protein class II. |
| mRNA stabilization | Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules. |
| multicellular organismal iron ion homeostasis | Any process involved in the maintenance of the distribution of iron stores within tissues and organs of a multicellular organism. |
| negative regulation of cytokine production | Any process that stops, prevents, or reduces the rate of production of a cytokine. |
| nitrite transport | The directed movement of nitrite into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| phagocytosis | A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. |
| positive regulation of cytokine production | Any process that activates or increases the frequency, rate or extent of production of a cytokine. |
| positive regulation of dendritic cell antigen processing and presentation | Any process that activates or increases the frequency, rate, or extent of dendritic cell antigen processing and presentation. |
| 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 interferon-gamma production | Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| positive regulation of phagocytosis | Any process that activates or increases the frequency, rate or extent of phagocytosis. |
| positive regulation of T-helper 1 type immune response | Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| respiratory burst | A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. |
| response to bacterium | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. |
| response to interferon-gamma | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon-gamma is also known as type II interferon. |
| response to lipopolysaccharide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| T cell proliferation involved in immune response | The expansion of a T cell population by cell division as part of an immune response. |
| vacuolar acidification | Any process that reduces the pH of the vacuole, measured by the concentration of the hydrogen ion. |
| wound healing | The series of events that restore integrity to a damaged tissue, following an injury. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q27981 | SLC11A1 | Natural resistance-associated macrophage protein 1 | Bos taurus (Bovine) | PR |
| P49281 | SLC11A2 | Natural resistance-associated macrophage protein 2 | Homo sapiens (Human) | PR |
| P49282 | Slc11a2 | Natural resistance-associated macrophage protein 2 | Mus musculus (Mouse) | PR |
| P41251 | Slc11a1 | Natural resistance-associated macrophage protein 1 | Mus musculus (Mouse) | PR |
| O77741 | SLC11A1 | Natural resistance-associated macrophage protein 1 | Sus scrofa (Pig) | PR |
| O54902 | Slc11a2 | Natural resistance-associated macrophage protein 2 | Rattus norvegicus (Rat) | PR |
| P70553 | Slc11a1 | Natural resistance-associated macrophage protein 1 | Rattus norvegicus (Rat) | PR |
| Q6ZG85 | NRAT1 | Metal transporter NRAT1 | Oryza sativa subsp japonica (Rice) | PR |
| Q2QN30 | NRAMP6 | Metal transporter Nramp6 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SNV9 | NRAMP3 | Metal transporter Nramp3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SN36 | NRAMP5 | Metal transporter Nramp5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C6B2 | NRAMP2 | Metal transporter Nramp2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTGDKGPQRL | SGSSYGSISS | PTSPTSPGPQ | QAPPRETYLS | EKIPIPDTKP | GTFSLRKLWA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FTGPGFLMSI | AFLDPGNIES | DLQAGAVAGF | KLLWVLLWAT | VLGLLCQRLA | ARLGVVTGKD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGEVCHLYYP | KVPRTVLWLT | IELAIVGSDM | QEVIGTAIAF | NLLSAGRIPL | WGGVLITIVD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TFFFLFLDNY | GLRKLEAFFG | LLITIMALTF | GYEYVVARPE | QGALLRGLFL | PSCPGCGHPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLQAVGIVGA | IIMPHNIYLH | SALVKSREID | RARRADIREA | NMYFLIEATI | ALSVSFIINL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FVMAVFGQAF | YQKTNQAAFN | ICANSSLHDY | AKIFPMNNAT | VAVDIYQGGV | ILGCLFGPAA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LYIWAIGLLA | AGQSSTMTGT | YAGQFVMEGF | LRLRWSRFAR | VLLTRSCAIL | PTVLVAVFRD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LRDLSGLNDL | LNVLQSLLLP | FAVLPILTFT | SMPTLMQEFA | NGLLNKVVTS | SIMVLVCAIN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LYFVVSYLPS | LPHPAYFGLA | ALLAAAYLGL | STYLVWTCCL | AHGATFLAHS | SHHHFLYGLL |
| EEDQKGETSG |