Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 76 variants

NM_001306215.2

p.G430V

c.1289G>T

NM_001306215.2

p.V596L

c.1786G>T

NM_001306215.2

p.V596L

c.1786G>C

NM_001306215.2

p.V628I

c.1882G>A

NM_001306215.2

p.R645Q

c.1934G>A

NM_001306215.2

p.R692Q

c.2075G>A

NM_001306215.2

p.S760Splc

c.2280-2A>C

NM_001306215.2

p.R4K

c.11G>A

NM_001306215.2

p.K5E

c.13A>G

NM_001306215.2

p.K5R

c.14A>G

NM_001306215.2

p.Q8*

c.22C>T

NM_001306215.2

p.Q8R

c.23A>G