Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_014016.5

p.L393_D394insFs

c.1179_1180insA

Surrounding Variants

NM_014016.5

p.R406H

c.1217G>A

NM_014016.5

p.V377A

c.1130T>C

NM_014016.5

p.Q376R

c.1127A>G

NM_014016.5

p.Q413_R414Splc

c.1239+23T>G

NM_014016.5

p.Y434F

c.1301A>T

NM_014016.5

p.D488N

c.1462G>A

NM_014016.5

p.Y502H

c.1504T>C

NM_014016.5

p.H510Q

c.1530T>A

NM_014016.5

p.H510Q

c.1530T>G

NM_014016.5

p.A523_L524Splc

c.1569+2T>C

NM_014016.5

p.K315R

c.944A>G

NM_014016.5

p.L307_I308Splc

c.922-6T>C