Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

NM_001316979.2

p.T138P

c.412A>C

NM_001316979.2

p.P139delFs

c.416_417delAG

NM_001316979.2

p.R206*

c.616C>T

NM_001316979.2

p.P234L

c.701C>T

NM_001316979.2

p.H11N

c.31C>A

NM_001316979.2

p.S67C

c.200C>G

NM_001316979.2

p.P76S

c.226C>T

NM_001316979.2

p.R81*

c.241C>T

NM_001316979.2

p.E98K

c.292G>A

NM_001316979.2

p.D116D

c.348C>T

NM_001316979.2

p.T130N

c.389C>A

NM_001316979.2

p.G163W

c.487G>T