Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_003200.5

p.S514L

c.1541C>T

Surrounding Variants

NM_003200.5

p.S514*

c.1541C>A

NM_003200.5

p.H513Q

c.1539C>G

NM_003200.5

p.H513Q

c.1539C>A

NM_003200.5

p.E516Q

c.1546G>C

NM_003200.5

p.E516A

c.1547A>C

NM_003200.5

p.E517*

c.1549G>T

NM_003200.5

p.E517Q

c.1549G>C

NM_003200.5

p.K518E

c.1552A>G

NM_003200.5

p.T508M

c.1523C>T

NM_003200.5

p.K522Q

c.1564A>C

NM_003200.5

p.K522K

c.1566G>A

NM_003200.5

p.A523ins3

c.1567_1568ins9