Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 199 variants

NM_001286615.2

p.G115A

c.344G>C

NM_001286615.2

p.E480K

c.1438G>A

NM_001286615.2

p.V520M

c.1558G>A

NM_001286615.2

p.A535T

c.1603G>A

NM_001286615.2

p.Y707C

c.2120A>G

NM_001286615.2

p.E2A

c.5A>C

NM_001286615.2

p.E2E

c.6G>A

NM_001286615.2

p.S4insFs

c.11_12insTT

NM_001286615.2

p.S5delFs

c.13delT

NM_001286615.2

p.S6T

c.16T>A

NM_001286615.2

p.S6F

c.17C>T

NM_001286615.2

p.I8_K12del0

c.23_34del12