Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

NM_001308429.2

p.Q120*

c.358C>T

NM_001308429.2

p.W6*

c.17G>A

NM_001308429.2

p.W6*

c.18G>A

NM_001308429.2

p.P34S

c.100C>T

NM_001308429.2

p.P44S

c.130C>T

NM_001308429.2

p.R54C

c.160C>T

NM_001308429.2

p.L56I

c.166C>A

NM_001308429.2

p.L56del1

c.166_167delGAG

NM_001308429.2

p.S58ins1

c.172_173insGAG

NM_001308429.2

p.S58A

c.172T>G

NM_001308429.2

p.D59H

c.175G>C

NM_001308429.2

p.R92H

c.275G>A