Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_002921.4

p.M252_V253Splc

c.756+5A>G

NM_001012720.2

p.M248_V249Splc

c.744+5A>G

Surrounding Variants

NM_001012720.2

p.M248_V249Splc

c.744+3A>G

NM_001012720.2

p.S243F

c.728C>T

NM_002921.4

p.S245F

c.734C>T

NM_001012720.2

p.S241F

c.722C>T

NM_001012720.2

p.S241fs

c.721_722fs

NM_001012720.2

p.S241delFs

c.722_723delCC

NM_001012720.2

p.I236I

c.708C>T

NM_001012720.2

p.A234T

c.700G>A

NM_001012720.2

p.Y233del1

c.697_699delTAC

NM_001012720.2

p.L232_A234ins1

c.696_701dup6

NM_001012720.2

p.A228S

c.682G>T

NM_001012720.2

p.P216_R218del3

c.646_653del9

NM_001012720.2

p.Q210_V211Splc

c.631-12A>G