Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_020247.5

p.E551Q

c.1651G>C

Surrounding Variants

NM_020247.5

p.E551K

c.1651G>A

NM_020247.5

p.G549S

c.1645G>A

NM_020247.5

p.T548T

c.1644C>T

NM_020247.5

p.I542fs

c.1624_1625fs

NM_020247.5

p.I542delFs

c.1625_1626delTA

NM_020247.5

p.S541P

c.1621T>C

NM_020247.5

p.R538Q

c.1613G>A

NM_020247.5

p.R538R

c.1612C>A

NM_020247.5

p.Q524_I525Splc

c.1572+7G>A

NM_020247.5

p.Q524R

c.1571A>G

NM_020247.5

p.T519A

c.1555A>G

NM_020247.5

p.T519fs

c.1555_1556fs