Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 167 variants

NM_001284230.2

p.E38del1

c.112_113delCTC

NM_001284230.2

p.S13delFs

c.38_39delGC

NM_001284230.2

p.E38_A39del2

c.112_116del6

NM_001284230.2

p.P113_S115del3

c.337_344del9

NM_001284230.2

p.Y646C

c.1937A>G

NM_001284230.2

p.D176N

c.526G>A

NM_001284230.2

p.E179K

c.535G>A

NM_001284230.2

p.L194R

c.581T>G

NM_001284230.2

p.L211Q

c.632T>A

NM_001284230.2

p.D294A

c.881A>C

NM_001284230.2

p.E319K

c.955G>A

NM_001284230.2

p.W333*

c.998G>A