Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001330348.2

p.K384E

c.1150A>G

Surrounding Variants

NM_001330348.2

p.L392P

c.1175T>C

NM_001330348.2

p.L402_L403insFs

c.1206_1207insC

NM_001330348.2

p.E360_V361Splc

c.1081-8T>C

NM_001330348.2

p.D418N

c.1252G>A

NM_001330348.2

p.A426P

c.1276G>C

NM_001330348.2

p.L444P

c.1331T>C

NM_001330348.2

p.E445Q

c.1333G>C

NM_001330348.2

p.K457N

c.1371A>T

NM_001330348.2

p.K457N

c.1371A>C

NM_001330348.2

p.S460_P461insFs

c.1380_1381insC

NM_001330348.2

p.P461P

c.1383G>A

NM_001330348.2

p.P465S

c.1393C>T