Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 128 variants

NM_024740.2

p.Y287C

c.860A>G

NM_024740.2

p.E530K

c.1588G>A

NM_024740.2

p.A232P

c.694G>C

NM_024740.2

p.S255L

c.764C>T

NM_024740.2

p.V289I

c.865G>A

NM_024740.2

p.Q391_H392Splc

c.1173+2T>A

NM_024740.2

p.K135_I136Splc

c.406-7C>T

NM_024740.2

p.R247S

c.741G>T

NM_024740.2

p.R247S

c.741G>C

NM_024740.2

p.V340fs

c.1018_1019fs

NM_024740.2

p.S17T

c.50G>C

NM_024740.2

p.R143*

c.427C>T