Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

NM_001351015.2

p.K48R

c.143A>G

NM_001351015.2

p.D535A

c.1604A>C

NM_001351015.2

p.G291V

c.872G>T

NM_001351015.2

p.P546S

c.1636C>T

NM_001351015.2

p.H566R

c.1697A>G

NM_001351015.2

p.H642R

c.1925A>G

NM_001351015.2

p.R745Q

c.2234G>A

NM_001351015.2

p.M1K

c.2T>A

NM_001351015.2

p.E6V

c.17A>T

NM_001351015.2

p.Y20*

c.60T>A

NM_001351015.2

p.A28delFs

c.84delA

NM_001351015.2

p.V29L

c.85G>C