Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001387263.1

p.Q292_D293Splc

c.877-2A>G

Surrounding Variants

NM_001387263.1

p.Q292_D293Splc

c.877-1G>A

NM_001387263.1

p.D293Y

c.877G>T

NM_001387263.1

p.E295Q

c.883G>C

NM_001387263.1

p.A297fs

c.889_890fs

NM_001387263.1

p.A297delFs

c.890delG

NM_001387263.1

p.Q300*

c.898C>T

NM_001387263.1

p.R307Q

c.920G>A

NM_001387263.1

p.E309K

c.925G>A

NM_001387263.1

p.M311V

c.931A>G

NM_001387263.1

p.L315*

c.944T>G

NM_001387263.1

p.L315*

c.944T>A

NM_001387263.1

p.I318T

c.953T>C