Q9HCM4
PR
Gene name |
EPB41L5 (KIAA1548) |
Protein name |
Band 4.1-like protein 5 |
Names |
Erythrocyte membrane protein band 4.1-like 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57669 |
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 Q9HCM4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HCM4-F1 | Predicted | AlphaFoldDB |
571 variants for Q9HCM4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1342040424 CA348142576 |
6 | R>C | No |
ClinGen gnomAD |
|
|
CA1849953 rs200315720 |
6 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754526964 COSM3783330 CA1849955 COSM3783329 |
11 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1849956 rs780794331 |
11 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348142659 rs780794331 |
11 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348142666 rs769293267 |
12 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769293267 CA1849958 |
12 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1849957 rs370788301 |
12 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348142681 rs1374883887 |
13 | S>C | No |
ClinGen gnomAD |
|
|
CA1849960 rs368671344 |
14 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348142687 rs1191755195 |
14 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1849959 rs368671344 |
14 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1849961 rs770943181 COSM273639 |
15 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774267991 CA1849962 |
15 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427653218 CA348142724 |
16 | K>R | No |
ClinGen gnomAD |
|
|
CA348142751 rs185025809 |
17 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1849963 rs185025809 |
17 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365743064 CA348142818 |
18 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772152390 CA1849964 |
19 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54324096 rs772152390 |
19 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775479891 CA1849965 |
20 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1849966 rs760987295 |
22 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1849967 rs764171210 |
22 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1849968 rs777100198 |
24 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1849969 rs200613361 |
24 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765908709 CA348142967 |
26 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765908709 CA1849970 |
26 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141466977 CA1849971 |
28 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758913196 CA1849972 |
28 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375523508 CA1849974 |
29 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1849976 COSM1647021 COSM716034 rs777262648 |
30 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348143046 rs1165196656 |
31 | T>S | No |
ClinGen gnomAD |
|
|
CA1849977 rs138231769 |
32 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432010489 CA348143074 |
33 | I>V | No |
ClinGen TOPMed |
|
|
CA1849978 rs756990594 |
35 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs778620122 CA1849979 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs941575407 CA54324253 |
41 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA54324256 rs1038620215 |
42 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM77652 COSM1399083 rs771955775 CA1849981 |
42 | I>V | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA1849982 rs143727058 |
44 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA54324331 rs902012815 |
46 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1849985 rs760338322 |
46 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54324333 rs763979792 |
49 | L>F | No |
ClinGen TOPMed |
|
|
CA348143317 rs1483907431 |
50 | L>V | No |
ClinGen TOPMed |
|
|
CA1849986 rs776708501 |
51 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1849987 rs139572933 |
52 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1849988 rs758397497 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1849990 rs763579118 |
55 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1849989 rs773676010 |
55 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766973777 CA1849991 |
56 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1214961177 CA348143484 |
57 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1454019618 CA348143528 |
60 | P>T | No |
ClinGen gnomAD |
|
|
CA1850014 rs774707663 |
61 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs753348508 CA1850017 |
63 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs112250729 CA54343310 |
64 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142458983 CA1850019 |
67 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1850020 rs764846451 |
70 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850021 rs750255837 |
72 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA54343403 rs991291864 |
73 | M>T | No |
ClinGen gnomAD |
|
|
CA1850022 rs758182899 |
74 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA348147895 rs1385975630 |
75 | H>D | No |
ClinGen TOPMed |
|
|
rs1160824803 CA348147898 |
75 | H>R | No |
ClinGen TOPMed |
|
|
CA348147903 rs1457282318 |
76 | L>V | No |
ClinGen TOPMed |
|
|
CA54343424 rs758785346 |
77 | D>H | No |
ClinGen Ensembl |
|
|
rs1207994515 CA348147921 |
79 | I>V | No |
ClinGen gnomAD |
|
|
rs1475856953 CA348147927 |
80 | E>Q | No |
ClinGen gnomAD |
|
|
CA1850025 rs780408925 |
81 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850027 COSM212274 rs748239588 |
82 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1850028 rs770183574 |
83 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs376981728 CA1850030 |
89 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348147999 rs1181709407 |
90 | D>Y | No |
ClinGen gnomAD |
|
|
CA1850032 rs774711474 |
92 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1850033 rs759991166 |
95 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348142149 rs1362448581 |
101 | T>R | No |
ClinGen TOPMed |
|
|
CA54364627 rs1019058776 |
102 | K>Q | No |
ClinGen Ensembl |
|
|
rs777943958 CA1850048 |
103 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425503747 CA348142161 |
103 | S>T | No |
ClinGen gnomAD |
|
|
CA1850049 rs749527596 |
104 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA348142767 rs1443500338 |
110 | I>T | No |
ClinGen gnomAD |
|
|
rs770560434 CA1850091 |
114 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348142950 rs1236111642 |
116 | L>V | No |
ClinGen gnomAD |
|
|
CA348143020 rs1189208707 |
119 | R>G | No |
ClinGen TOPMed |
|
|
CA1850092 rs774040105 |
119 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759054069 CA348143038 |
120 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759054069 CA1850093 |
120 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850094 rs767352202 |
121 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA54364963 rs867749223 |
127 | P>L | No |
ClinGen Ensembl |
|
|
rs1408125496 CA348143232 |
128 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1481894 CA348143287 rs1414991675 COSM1481893 |
131 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs775387235 CA1850095 |
131 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850096 rs760710287 |
133 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850097 rs764099015 |
134 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA348143392 rs754011517 |
135 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1850098 rs754011517 |
135 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA348143401 rs765431598 |
136 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438372771 CA348143409 |
136 | R>Q | No |
ClinGen gnomAD |
|
|
CA1850100 rs765431598 |
136 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185422418 CA348143712 |
140 | V>I | No |
ClinGen TOPMed |
|
|
rs1185422418 CA348143715 |
140 | V>L | No |
ClinGen TOPMed |
|
|
CA1850119 rs765361383 |
141 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1850120 rs750427015 |
142 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM202499 rs150028843 CA54365463 |
145 | Q>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1850121 rs150028843 |
145 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268140674 CA348143829 |
146 | D>G | No |
ClinGen gnomAD |
|
|
CA348143834 rs1400983189 |
147 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766560121 CA1850122 |
148 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755326027 CA1850124 |
149 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219722445 CA348143889 |
151 | K>Q | No |
ClinGen Ensembl |
|
|
CA1850146 rs764476061 |
153 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1459292528 CA348144232 |
155 | P>S | No |
ClinGen TOPMed |
|
|
CA348144256 rs1558850699 |
157 | D>N | No |
ClinGen Ensembl |
|
|
CA348144325 rs1340041325 |
161 | Q>K | No |
ClinGen gnomAD |
|
|
rs760752985 CA54365570 |
162 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA54365578 rs866098283 |
164 | A>T | No |
ClinGen Ensembl |
|
|
rs746659189 CA1850150 |
165 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348144402 rs1351521025 |
166 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA348144409 rs1574602696 |
166 | N>S | No |
ClinGen Ensembl |
|
|
rs1216065708 CA348144422 |
167 | L>P | No |
ClinGen TOPMed |
|
|
rs1293517357 CA348144419 |
167 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs747867800 CA1850153 |
168 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201680783 CA1850171 |
171 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755878477 CA1850172 COSM3708844 COSM3708845 |
174 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA348145098 rs1246139560 |
175 | D>N | No |
ClinGen TOPMed |
|
|
rs1171417806 CA348145151 |
178 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770807171 CA1850175 |
179 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348145174 rs1409472504 |
179 | H>Y | No |
ClinGen gnomAD |
|
|
CA1850176 rs774463706 |
183 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774463706 CA348145328 |
183 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745918601 CA1850177 |
184 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348145423 rs1389933975 |
187 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 187 | F>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1850179 rs775560480 |
190 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348145543 rs1558852196 |
191 | P>A | No |
ClinGen Ensembl |
|
|
CA1850180 rs760892423 |
192 | I>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1725175 CA348145561 COSM1725176 rs1231748626 |
192 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA348145725 rs1248977803 |
196 | E>D | No |
ClinGen gnomAD |
|
|
CA1850183 rs762429474 |
197 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148265033 CA1850184 |
198 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348145789 rs1190522916 |
199 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 200 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372381626 CA1850185 |
201 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348145850 rs1558852281 |
202 | F>L | No |
ClinGen Ensembl |
|
|
CA1850186 rs758958392 |
202 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA54366004 rs912089229 |
203 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 205 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1850187 rs766998748 |
208 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs750364230 CA1850212 |
210 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs758315449 CA1850213 |
211 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1850215 rs747086947 |
212 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs371325974 CA54366066 |
212 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348146130 rs1269244122 |
213 | P>S | No |
ClinGen gnomAD |
|
|
CA348146131 rs1269244122 |
213 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141272714 CA1850217 |
215 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206740179 CA348146197 |
217 | E>G | No |
ClinGen TOPMed |
|
|
CA1850219 rs368937285 |
218 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771447988 CA348146322 |
224 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411700602 CA348146311 |
224 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs771447988 CA1850222 |
224 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1850223 rs774904037 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA348146417 rs1456661160 |
229 | M>I | No |
ClinGen gnomAD |
|
|
CA1850224 rs137963022 |
229 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348146462 rs1360728174 |
232 | V>I | No |
ClinGen gnomAD |
|
|
CA348146504 rs1409561260 |
234 | M>I | No |
ClinGen TOPMed |
|
|
rs1009059143 CA54366099 |
235 | H>R | No |
ClinGen TOPMed |
|
|
rs1443077364 CA348146559 |
238 | K>T | No |
ClinGen TOPMed |
|
|
CA54366526 rs961713989 |
240 | R>G | No |
ClinGen Ensembl |
|
|
CA1850242 rs768157420 |
240 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1218969596 CA348147401 |
241 | D>G | No |
ClinGen gnomAD |
|
|
rs761476487 CA1850244 |
243 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1206192816 CA348147467 |
244 | D>N | No |
ClinGen gnomAD |
|
|
rs1206192816 CA348147473 |
244 | D>Y | No |
ClinGen gnomAD |
|
|
rs920189284 CA54366536 |
245 | Y>C | No |
ClinGen gnomAD |
|
|
rs772917687 CA1850247 |
248 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1850248 rs762802152 |
249 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751521145 CA1850250 |
256 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs867225222 CA54366550 |
260 | D>G | No |
ClinGen Ensembl |
|
|
rs952835034 CA54366555 |
261 | T>A | No |
ClinGen Ensembl |
|
|
rs752807562 CA1850253 |
267 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs35675992 | 268 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371390949 CA1850272 |
269 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54370944 rs376079893 |
270 | K>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1850274 rs752895555 |
274 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1850275 rs540650616 |
275 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1189272148 CA348149709 |
277 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA54370958 rs933859289 |
278 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1047437317 CA54370964 |
278 | K>R | No |
ClinGen Ensembl |
|
|
CA1850276 rs764025569 |
279 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754092507 CA1850277 |
281 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs757551674 CA1850279 |
287 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850281 rs758943110 |
288 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750759777 CA1850280 |
288 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348149956 rs1397989209 |
290 | D>Y | No |
ClinGen gnomAD |
|
|
CA348151301 rs1490439751 |
292 | G>D | No |
ClinGen Ensembl |
|
|
rs181540730 CA1850300 |
293 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176126796 CA348151386 |
298 | T>I | No |
ClinGen gnomAD |
|
|
CA348151384 rs1176126796 |
298 | T>K | No |
ClinGen gnomAD |
|
|
rs1472457443 CA348151395 |
300 | V>I | No |
ClinGen gnomAD |
|
|
CA348151436 rs1180671235 |
303 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348151473 rs1558865755 |
304 | D>G | No |
ClinGen Ensembl |
|
|
CA54373201 rs553715778 |
304 | D>H | No |
ClinGen gnomAD |
|
|
CA54373200 rs553715778 |
304 | D>N | No |
ClinGen gnomAD |
|
|
CA1850302 rs758746833 |
306 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780336067 CA1850303 |
307 | K>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045725978 CA54373217 |
308 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1850304 rs752093993 |
310 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850306 rs777392241 |
311 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209116771 CA348151634 |
312 | L>S | No |
ClinGen TOPMed |
|
|
rs1303865986 CA348151841 |
317 | V>L | No |
ClinGen gnomAD |
|
|
CA348151909 rs1370051162 |
319 | H>Y | No |
ClinGen gnomAD |
|
|
CA1850308 rs757006069 |
323 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745462819 CA1850310 |
324 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772000365 CA1850311 |
324 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348152071 rs772000365 |
324 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772000365 CA348152068 |
324 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574642792 CA348152076 |
325 | L>V | No |
ClinGen Ensembl |
|
|
COSM1752013 rs775383152 CA1850312 COSM1752014 |
326 | R>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs543802150 CA1850313 |
326 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 327 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574642849 CA348152144 |
328 | P>S | No |
ClinGen Ensembl |
|
|
CA1850318 rs375364339 |
329 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375364339 CA1850317 |
329 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375364339 CA348152176 |
329 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs560433313 CA54373307 |
332 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1850319 rs560433313 |
332 | S>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_048357 CA1850320 rs28930677 |
334 | H>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1850321 rs369050670 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1407594536 CA348152369 |
336 | S>T | No |
ClinGen TOPMed |
|
|
rs755549330 CA1850322 CA348152382 |
337 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850324 rs753448765 |
338 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA348152441 rs1447207187 |
339 | I>F | No |
ClinGen TOPMed |
|
|
COSM1399096 COSM1399097 CA1850325 rs756735116 |
340 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778502698 CA348152466 |
340 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1850326 rs778502698 |
340 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780039668 CA1850329 |
344 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA348152595 rs1558866077 |
348 | S>C | No |
ClinGen Ensembl |
|
|
rs1187282318 CA348152797 |
349 | G>R | No |
ClinGen gnomAD |
|
|
CA1850349 rs751427248 |
355 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850350 rs754742819 |
358 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1360488502 CA348152934 |
359 | N>S | No |
ClinGen gnomAD |
|
|
rs1311715561 CA348152983 |
363 | R>K | No |
ClinGen gnomAD |
|
|
CA1850352 rs748064954 |
364 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280580377 CA348153019 |
368 | E>D | No |
ClinGen gnomAD |
|
|
CA348153026 rs1350624281 |
369 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1167475492 CA348153037 |
371 | P>S | No |
ClinGen Ensembl |
|
|
rs1395816393 CA348153042 |
372 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 373 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769698007 CA1850353 |
374 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1690993 COSM1690992 CA1850354 rs779990536 |
374 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1261942547 CA348153070 |
376 | S>A | No |
ClinGen gnomAD |
|
|
CA348153079 rs1348834012 |
377 | R>S | No |
ClinGen gnomAD |
|
|
rs749366748 CA348153083 |
378 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749366748 CA1850355 COSM166546 |
378 | R>Q | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs113012458 CA54374235 |
380 | L>P | No |
ClinGen Ensembl |
|
|
rs917744295 CA348153101 |
380 | L>V | No |
ClinGen gnomAD |
|
|
rs1182628646 CA348153109 |
381 | Q>* | No |
ClinGen gnomAD |
|
|
rs1233348808 CA348153116 |
381 | Q>L | No |
ClinGen gnomAD |
|
|
rs774455060 CA1850357 |
382 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1850358 rs759740360 |
383 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201920312 CA1850385 |
385 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348153987 rs201920312 |
385 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54375284 rs958982286 |
385 | C>Y | No |
ClinGen gnomAD |
|
|
rs556623813 CA1850386 |
388 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767196906 CA1850387 |
389 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1394666460 CA348154058 |
389 | P>S | No |
ClinGen gnomAD |
|
|
CA54375309 rs992065424 |
391 | E>V | No |
ClinGen Ensembl |
|
|
rs752493586 CA1850388 |
392 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755920716 CA1850389 |
393 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474102758 CA348154152 |
393 | S>T | No |
ClinGen gnomAD |
|
|
rs750522667 CA1850415 |
394 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs758514365 CA1850416 |
395 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779930267 CA1850417 |
398 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs929137013 CA54379779 |
399 | S>A | No |
ClinGen TOPMed |
|
|
rs761848072 CA1850418 |
399 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140455711 CA1850420 |
402 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs982001117 CA54379796 |
403 | N>K | No |
ClinGen Ensembl |
|
|
COSM1590521 CA1850421 COSM1005974 rs765044439 |
403 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1850423 rs138668099 |
405 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1850422 rs770264143 |
405 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1850424 rs749694785 |
406 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181493041 CA348156395 |
407 | Q>H | No |
ClinGen gnomAD |
|
|
rs768353341 CA1850445 |
408 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1850447 rs761302544 |
409 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 409 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348156518 rs1440395884 |
411 | M>I | No |
ClinGen TOPMed |
|
|
rs769660565 CA1850448 |
411 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1307501053 CA348156540 CA348156538 |
412 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348156533 rs1558875188 |
412 | R>T | No |
ClinGen Ensembl |
|
|
rs1574667724 CA348156564 |
414 | A>V | No |
ClinGen Ensembl |
|
|
CA1850451 rs762996512 |
415 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1850452 rs751747583 |
416 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs201748115 CA1850453 |
421 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201748115 CA1850454 |
421 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1850455 rs752996659 |
424 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6737124 CA54380172 |
424 | A>V | No |
ClinGen TOPMed |
|
|
rs145506904 CA54380184 |
425 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 426 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188572990 CA348156694 |
426 | V>M | No |
ClinGen gnomAD |
|
|
CA54380197 rs201439987 |
430 | I>R | No |
ClinGen Ensembl |
|
|
CA1850457 rs778253269 |
430 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962678176 CA54380202 |
431 | E>G | No |
ClinGen TOPMed |
|
|
CA1850458 rs201242941 |
432 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1850459 rs757825101 |
432 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199913796 CA54380219 |
432 | N>S | No |
ClinGen Ensembl |
|
|
rs145974590 CA54380228 |
433 | L>P | No |
ClinGen ESP |
|
|
rs779374921 CA1850461 |
434 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537559696 RCV000882991 |
434 | P>missing | No |
ClinVar dbSNP |
|
|
rs746314468 CA348156783 |
435 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746314468 CA1850462 |
435 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362254112 CA348156789 |
436 | S>C | No |
ClinGen gnomAD |
|
|
rs556758283 CA54380248 |
438 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1850463 rs556758283 |
438 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1558875409 CA348156831 |
442 | H>R | No |
ClinGen Ensembl |
|
|
rs141166100 CA1850465 |
443 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs190257415 CA1850464 |
443 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs894622651 CA54380260 |
444 | R>G | No |
ClinGen gnomAD |
|
|
rs772108680 CA1850489 |
447 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA348140588 rs1395761335 |
451 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780857353 CA1850490 |
452 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760655052 CA1850491 |
454 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850492 rs185459190 |
457 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1850493 rs371887159 |
458 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911610547 CA54371446 |
459 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA54371468 rs150716116 |
460 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348140764 rs1034489 |
462 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1850495 VAR_042699 rs1034489 |
462 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1850496 rs367594754 |
463 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850498 rs766790029 |
464 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs752048242 CA1850499 |
466 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1448413968 CA348140842 |
467 | V>I | No |
ClinGen gnomAD |
|
|
CA348140867 rs1311623280 |
468 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 469 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs994752162 CA54371508 |
469 | G>V | No |
ClinGen TOPMed |
|
|
rs1477125294 CA348140896 |
470 | A>E | No |
ClinGen gnomAD |
|
|
rs755584471 CA1850500 |
470 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA54371528 rs1014327 |
471 | S>F | No |
ClinGen Ensembl |
|
|
rs777298586 CA1850501 |
473 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA54371534 rs201934851 |
474 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs375737886 CA1850502 |
474 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348140993 rs1387373234 |
476 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1049341192 CA54371539 |
476 | T>I | No |
ClinGen TOPMed |
|
|
rs1558894317 CA348141044 |
479 | A>V | No |
ClinGen Ensembl |
|
|
CA54371548 rs112541867 |
481 | N>D | No |
ClinGen Ensembl |
|
|
CA54371551 rs200443214 |
482 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1850504 rs778893547 |
483 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348141157 rs1416718493 |
485 | V>I | No |
ClinGen gnomAD |
|
|
CA348141177 rs1356047922 |
486 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775299147 CA1850507 |
488 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA348141194 rs1352378832 |
488 | R>S | No |
ClinGen gnomAD |
|
|
rs201938207 CA1850508 |
490 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201938207 CA1850509 |
490 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147910281 CA1850511 |
491 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1046323322 CA54371595 |
493 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1850513 rs773632742 |
495 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA1850512 rs769970826 |
495 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1286741170 CA348141238 |
496 | E>K | No |
ClinGen TOPMed |
|
|
rs763289946 CA1850514 |
497 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348141269 rs1423783791 |
499 | Y>F | No |
ClinGen gnomAD |
|
|
CA348141304 rs1365968932 |
501 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1391787768 CA348141878 |
501 | T>R | No |
ClinGen TOPMed |
|
|
CA1850541 CA348141885 rs114745805 |
502 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1398574331 CA348141896 |
504 | D>N | No |
ClinGen gnomAD |
|
|
rs774756487 CA1850542 |
505 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 506 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 508 | K>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348141934 rs1468295664 |
509 | L>R | No |
ClinGen TOPMed |
|
|
CA348141970 rs1374166016 |
514 | M>T | No |
ClinGen gnomAD |
|
|
CA348141974 rs1236113541 |
515 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1469775265 CA348141991 COSM1728020 |
517 | S>G | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA54374072 rs571860020 |
520 | L>V | No |
ClinGen Ensembl |
|
|
rs562880353 CA1850544 |
521 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1850546 rs761424528 |
523 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1850548 rs764769438 |
523 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850547 rs764769438 |
523 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1558896752 CA348142033 |
524 | S>C | No |
ClinGen Ensembl |
|
|
rs779760380 CA1850551 |
526 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758016965 CA1850549 |
526 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1850552 rs754936128 |
527 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA54374141 rs866348768 |
529 | N>S | No |
ClinGen gnomAD |
|
|
rs1266956067 CA348142068 |
530 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs151036306 CA1850555 |
531 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs151036306 CA1850556 |
531 | N>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1374693081 CA535134378 |
532 | S>* | No |
ClinGen gnomAD |
|
|
rs749523083 CA1850557 |
532 | S>N | No |
ClinGen ExAC |
|
|
CA348142089 rs1431222688 |
533 | Q>* | No |
ClinGen gnomAD |
|
|
CA1850570 rs564882329 |
535 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA54381433 rs1036960261 |
536 | V>M | No |
ClinGen TOPMed |
|
|
rs1192764011 CA348144690 |
537 | V>M | No |
ClinGen gnomAD |
|
|
rs1421421654 CA348144710 |
538 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1850573 rs756025079 |
539 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850572 rs756025079 |
539 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850574 rs372629675 |
541 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54381455 rs764847821 |
543 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1850576 rs779212812 |
545 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850577 rs576728530 |
546 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1850578 rs201588157 |
547 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348145068 rs1209940082 |
548 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1850579 rs775945130 |
549 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1574748013 CA348145164 |
550 | S>N | No |
ClinGen Ensembl |
|
|
rs747564552 CA1850580 |
551 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348145193 rs1261623804 |
551 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747564552 CA1850581 |
551 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850582 rs772662688 |
552 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA348145205 rs772662688 |
552 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA348145240 rs1558903278 |
553 | L>F | No |
ClinGen Ensembl |
|
|
CA348145297 rs1229217284 |
556 | M>L | No |
ClinGen gnomAD |
|
|
rs762509732 CA1850583 |
558 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762509732 CA348145344 |
558 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA54381494 rs1002991850 |
559 | P>S | No |
ClinGen TOPMed |
|
|
CA1850584 rs765748715 |
560 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1446681764 CA348145398 |
561 | D>Y | No |
ClinGen TOPMed |
|
|
CA348145428 rs1287013187 |
562 | F>I | No |
ClinGen gnomAD |
|
|
CA54381504 rs1035784645 |
563 | K>N | No |
ClinGen TOPMed |
|
|
CA348145478 rs1487969021 |
563 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348145505 rs1214588077 |
564 | S>N | No |
ClinGen gnomAD |
|
|
rs200778488 CA1850588 |
566 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1850587 rs563356525 |
566 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1850590 rs764007999 |
568 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA348145665 rs1360789649 |
569 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1023523845 CA348145705 |
570 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201534394 CA1850594 |
571 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348145790 rs1449473505 |
574 | V>M | No |
ClinGen gnomAD |
|
|
rs1400930556 CA348145829 |
575 | H>R | No |
ClinGen gnomAD |
|
|
CA348145852 rs1377339877 |
576 | K>E | No |
ClinGen gnomAD |
|
|
CA348146826 rs1574753461 |
580 | E>Q | No |
ClinGen Ensembl |
|
|
rs372637781 CA1850623 |
581 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1850624 rs200132316 |
581 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771516332 CA1850625 |
582 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775131807 CA1850626 |
584 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1850627 rs202069860 |
585 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558905152 CA348146965 |
585 | S>R | No |
ClinGen Ensembl |
|
|
rs376393236 CA1850628 |
586 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558905173 CA348147032 |
588 | N>D | No |
ClinGen Ensembl |
|
|
CA348147082 rs1201914905 |
589 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1258632691 CA348147097 |
590 | N>D | No |
ClinGen gnomAD |
|
|
CA1850629 rs149270145 |
590 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761847701 CA1850630 |
592 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291527680 CA348147180 |
593 | D>V | No |
ClinGen gnomAD |
|
|
rs1451875446 CA348147233 |
595 | A>G | No |
ClinGen gnomAD |
|
|
CA1850631 rs765078923 |
596 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850632 rs148320562 |
596 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763136332 CA1850633 |
597 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA348150071 rs1284757695 |
602 | N>S | No |
ClinGen gnomAD |
|
|
CA348150086 rs1487590973 |
603 | E>D | No |
ClinGen gnomAD |
|
|
rs1404364263 CA348150084 |
603 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1202632017 CA348150105 |
606 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs913523495 CA54394765 |
607 | P>L | No |
ClinGen Ensembl |
|
|
CA1850661 rs757735309 |
608 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850662 rs779582918 |
608 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850664 rs767308933 |
609 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54394793 rs767308933 |
609 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746500889 CA1850663 |
609 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA348150123 rs1158122505 |
610 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1850665 rs568385225 |
610 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348150134 rs1467664165 |
611 | E>G | No |
ClinGen gnomAD |
|
|
CA348150140 rs867773735 |
612 | S>C | No |
ClinGen gnomAD |
|
|
CA54394795 rs867773735 |
612 | S>F | No |
ClinGen gnomAD |
|
|
CA54394794 rs946208584 |
612 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348150139 rs867773735 |
612 | S>Y | No |
ClinGen gnomAD |
|
|
rs1350789073 CA348150172 COSM441057 |
617 | M>I | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs116814864 CA1850670 |
617 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs553471925 CA1850669 |
617 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553471925 CA348150167 |
617 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348150175 rs1314755719 |
618 | L>F | No |
ClinGen TOPMed |
|
|
CA54394850 rs1049505618 |
619 | I>T | No |
ClinGen Ensembl |
|
|
CA1850671 rs774630317 |
620 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1344969681 CA348150189 |
620 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs767564905 CA1850673 |
621 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA348150204 rs1574781061 |
621 | P>L | No |
ClinGen Ensembl |
|
|
rs1228749568 CA348150217 |
622 | A>G | No |
ClinGen TOPMed |
|
|
rs764486938 CA1850676 |
623 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348150283 rs1404518575 |
625 | G>R | No |
ClinGen TOPMed |
|
|
CA348150351 rs1303485491 |
627 | V>L | No |
ClinGen TOPMed |
|
|
CA348150375 rs1453379113 |
628 | L>R | No |
ClinGen TOPMed |
|
|
CA348150364 rs1434945298 |
628 | L>V | No |
ClinGen gnomAD |
|
|
CA1850677 rs754175588 |
629 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA348151716 rs1321248726 |
632 | T>A | No |
ClinGen TOPMed |
|
|
rs201346819 CA54397719 |
632 | T>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 635 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1850699 rs777041607 |
637 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371346032 CA1850700 |
637 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763469677 CA1850703 |
638 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs766985123 CA1850705 |
640 | A>E | No |
ClinGen ExAC |
|
|
rs543246911 CA54397784 |
642 | L>V | No |
ClinGen 1000Genomes |
|
|
CA348152074 rs1171283957 |
643 | T>S | No |
ClinGen TOPMed |
|
|
CA54397836 rs868590990 |
644 | E>A | No |
ClinGen TOPMed |
|
|
rs1218928943 CA348152095 |
644 | E>K | No |
ClinGen gnomAD |
|
|
rs755887654 CA1850709 |
645 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192647289 CA348152175 |
647 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1850711 rs533726622 |
650 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850712 rs757147154 |
653 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000953178 CA1850713 rs115833267 |
654 | Q>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1850722 rs200420484 |
655 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348153510 rs1418571752 |
655 | V>L | No |
ClinGen gnomAD |
|
|
rs763410919 CA1850724 |
656 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348153578 rs1288918702 |
657 | S>F | No |
ClinGen gnomAD |
|
|
CA348153603 rs1302683162 |
660 | M>V | No |
ClinGen gnomAD |
|
|
rs766896474 CA1850725 |
661 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449362025 CA348153620 |
662 | T>A | No |
ClinGen gnomAD |
|
|
rs1361215271 CA348153631 |
663 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348153628 rs1310282904 |
663 | P>S | No |
ClinGen gnomAD |
|
|
rs760264529 CA1850727 |
664 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850726 rs538183746 COSM1399100 |
664 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1459931184 CA348153636 |
665 | W>G | No |
ClinGen TOPMed |
|
|
rs1282029819 CA348153658 |
668 | P>A | No |
ClinGen gnomAD |
|
|
rs778059154 CA1850728 |
668 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54399597 rs948675944 |
669 | Q>H | No |
ClinGen TOPMed |
|
|
CA1850743 rs771132735 |
670 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1850744 rs150875024 |
670 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1850745 rs541871187 |
671 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763742761 CA1850746 |
672 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850747 rs776246372 |
673 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1478071914 CA348153699 |
673 | M>V | No |
ClinGen gnomAD |
|
|
rs761621882 CA1850748 |
675 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 677 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369202076 CA348153734 |
678 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369202076 CA348153735 |
678 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369202076 CA1850749 |
678 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325782137 CA348153755 |
681 | E>V | No |
ClinGen gnomAD |
|
|
rs1435873762 CA348153761 |
682 | M>T | No |
ClinGen gnomAD |
|
|
CA1850751 rs150011085 |
682 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs879639844 CA54399678 |
683 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs143558813 CA1850752 |
690 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143558813 CA1850753 |
690 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348153812 rs1282511976 |
690 | H>Y | No |
ClinGen gnomAD |
|
|
CA1850754 rs372523740 |
691 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348153827 rs1317717071 |
692 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781289796 CA1850755 |
693 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs184236313 CA1850757 |
698 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778060801 CA1850758 |
699 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA348153882 rs199753897 |
701 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850759 rs199753897 |
701 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1850760 rs771347858 |
702 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA54399721 rs771347858 |
702 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850761 rs774831019 |
703 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348153898 rs1424061790 |
704 | P>L | No |
ClinGen gnomAD |
|
|
CA348153902 rs1363622523 |
705 | F>L | No |
ClinGen gnomAD |
|
|
CA348153916 rs1401839802 |
707 | V>I | No |
ClinGen gnomAD |
|
|
rs41279788 CA1850765 |
711 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558918747 CA348153950 |
712 | S>N | No |
ClinGen Ensembl |
|
|
CA1850788 rs770566131 |
712 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850790 rs759329364 |
713 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348155765 rs759329364 |
713 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368546858 CA1850789 |
713 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267891035 CA348155779 |
714 | G>C | No |
ClinGen TOPMed |
|
|
rs1345353212 CA348155805 |
715 | P>R | No |
ClinGen TOPMed |
|
|
rs1035039623 CA54404536 |
715 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1850792 rs112990619 |
717 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348155867 rs1469124156 |
718 | A>V | No |
ClinGen gnomAD |
|
|
CA1850793 rs534260431 |
719 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764271104 CA1850795 |
720 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753856682 CA1850796 |
720 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54404564 rs764271104 |
720 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1850797 rs757553072 |
721 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1850798 rs779287787 |
722 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348156013 rs1476522736 |
728 | L>F | No |
ClinGen TOPMed |
|
|
CA1850800 rs758869731 |
728 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348156025 rs1260213392 |
730 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs769014955 CA1850804 |
731 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 732 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 733 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9HCM4
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| 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). |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| photoreceptor inner segment | The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| protein domain specific binding | Binding to a specific domain of a protein. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
| apical constriction | The actin-mediated process that results in the contraction of the apical end of a polarized columnar epithelial cell. |
| axial mesoderm morphogenesis | The process in which the anatomical structures of the axial mesoderm are generated and organized. |
| cellular response to transforming growth factor beta stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus. |
| ectoderm development | The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. |
| embryonic foregut morphogenesis | The process in which the anatomical structures of the foregut are generated and organized, during the embryonic phase. |
| endoderm development | The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. |
| epithelial to mesenchymal transition | A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| left/right axis specification | The establishment, maintenance and elaboration of the left/right axis. The left/right axis is defined by a line that runs orthogonal to both the anterior/posterior and dorsal/ventral axes. Each side is defined from the viewpoint of the organism rather of the observer (as per anatomical axes). |
| mesoderm migration involved in gastrulation | The migration of mesodermal cells during gastrulation to help establish the multilayered body plan of the organism. |
| negative regulation of cell-cell adhesion | Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| neural plate morphogenesis | The process in which the anatomical structures of the neural plate are generated and organized. The neural plate is a specialized region of columnar epithelial cells in the dorsal ectoderm that will give rise to nervous system tissue. |
| paraxial mesoderm development | The process whose specific outcome is the progression of the paraxial mesoderm over time, from its formation to the mature structure. The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube. |
| positive regulation of epithelial cell migration | Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
| positive regulation of focal adhesion assembly | Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| post-transcriptional regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. |
| regulation of establishment of protein localization | Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. |
| somite rostral/caudal axis specification | The establishment, maintenance and elaboration of the rostro-caudal axis of a somite, prior to the morphological formation of a somite boundary. |
| substrate-dependent cell migration, cell attachment to substrate | The formation of adhesions that stabilize protrusions at the leading edge of a migrating cell; involves integrin activation, clustering, and the recruitment of structural and signaling components to nascent adhesions. |
| unidimensional cell growth | The process in which a cell irreversibly increases in size in one |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58CU2 | EPB41L5 | Band 4.1-like protein 5 | Bos taurus (Bovine) | PR |
| Q9MYU8 | EPB41L5 | Band 4.1-like protein 5 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| Q9HCS5 | EPB41L4A | Band 4.1-like protein 4A | Homo sapiens (Human) | PR |
| Q7Z6J6 | FRMD5 | FERM domain-containing protein 5 | Homo sapiens (Human) | PR |
| A2A2Y4 | FRMD3 | FERM domain-containing protein 3 | Homo sapiens (Human) | PR |
| O43491 | EPB41L2 | Band 4.1-like protein 2 | Homo sapiens (Human) | PR |
| Q9H4G0 | EPB41L1 | Band 4.1-like protein 1 | Homo sapiens (Human) | PR |
| P11171 | EPB41 | Protein 4.1 | Homo sapiens (Human) | PR |
| Q9Y2J2 | EPB41L3 | Band 4.1-like protein 3 | Homo sapiens (Human) | PR |
| Q8BHD4 | Frmd3 | FERM domain-containing protein 3 | Mus musculus (Mouse) | PR |
| Q6P5H6 | Frmd5 | FERM domain-containing protein 5 | Mus musculus (Mouse) | PR |
| P52963 | Epb41l4a | Band 4.1-like protein 4A | Mus musculus (Mouse) | PR |
| Q8BGS1 | Epb41l5 | Band 4.1-like protein 5 | Mus musculus (Mouse) | PR |
| Q0P4Q4 | frmd3 | FERM domain-containing protein 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| O57457 | epb41l4a | Band 4.1-like protein 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSFFRRTLG | RRSMRKHAEK | ERLREAQRAA | THIPAAGDSK | SIITCRVSLL | DGTDVSVDLP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKAKGQELFD | QIMYHLDLIE | SDYFGLRFMD | SAQVAHWLDG | TKSIKKQVKI | GSPYCLHLRV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KFYSSEPNNL | REELTRYLFV | LQLKQDILSG | KLDCPFDTAV | QLAAYNLQAE | LGDYDLAEHS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PELVSEFRFV | PIQTEEMELA | IFEKWKEYRG | QTPAQAETNY | LNKAKWLEMY | GVDMHVVKAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DGNDYSLGLT | PTGVLVFEGD | TKIGLFFWPK | ITRLDFKKNK | LTLVVVEDDD | QGKEQEHTFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FRLDHPKACK | HLWKCAVEHH | AFFRLRGPVQ | KSSHRSGFIR | LGSRFRYSGK | TEYQTTKTNK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ARRSTSFERR | PSKRYSRRTL | QMKACATKPE | ELSVHNNVST | QSNGSQQAWG | MRSALPVSPS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ISSAPVPVEI | ENLPQSPGTD | QHDRKCIPLN | IDLLNSPDLL | EATIGDVIGA | SDTMETSQAL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NDVNVATRLP | GLGEPEVEYE | TLKDTSEKLK | QLEMENSPLL | SPRSNIDVNI | NSQEEVVKLT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EKCLNNVIES | PGLNVMRVPP | DFKSNILKAQ | VEAVHKVTKE | DSLLSHKNAN | VQDAATNSAV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LNENNVPLPK | ESLETLMLIT | PADSGSVLKE | ATDELDALLA | SLTENLIDHT | VAPQVSSTSM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ITPRWIVPQS | GAMSNGLAGC | EMLLTGKEGH | GNKDGISLIS | PPAPFLVDAV | TSSGPILAEE |
| 730 | |||||
| AVLKQKCLLT | TEL |