Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001257308.2

p.A44V

c.131C>T

NM_001257308.2

p.W48*

c.143G>A

NM_001257308.2

p.W48*

c.144G>A

NM_001257308.2

p.S54A

c.160T>G

NM_001257308.2

p.Q55*

c.163C>T

NM_001257308.2

p.P92Q

c.275C>A

NM_001257308.2

p.K107*

c.319A>T

NM_001257308.2

p.K108delFs

c.324delG

NM_001257308.2

p.N109fs

c.325_326fs

NM_001257308.2

p.P110L

c.329C>T

NM_001257308.2

p.K131N

c.393G>C

NM_001257308.2

p.K131N

c.393G>T