Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001195553.2

p.Q235*

c.703C>T

Surrounding Variants

NM_001195553.2

p.Q235R

c.704A>G

NM_001195553.2

p.Q235Q

c.705G>A

NM_001195553.2

p.Q235_V236Splc

c.705+1G>A

NM_001195553.2

p.Q235_V236Splc

c.705+2T>G

NM_001195553.2

p.T230P

c.688A>C

NM_001195553.2

p.Y229F

c.686A>T

NM_001195553.2

p.L228_Y229delFs

c.684_685delAG

NM_001195553.2

p.Y229fs

c.685_686fs

NM_001195553.2

p.L228R

c.683T>G

NM_001195553.2

p.L228P

c.683T>C

NM_001195553.2

p.K227_L228insFs

c.681_682insA

NM_001195553.2

p.K227delFs

c.681delT