Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_182680.1

p.E34_N35Splc

c.103-3T>C

Surrounding Variants

NM_182680.1

p.E34_N35Splc

c.103-1G>A

NM_182680.1

p.N35H

c.103A>C

NM_182680.1

p.Q39_T46del8

c.115_137del24

NM_182680.1

p.Q39*

c.115C>T

NM_182680.1

p.A40A

c.120T>C

NM_182680.1

p.L48S

c.143T>C

NM_001142.2

p.E34_V35Splc

c.103-3A>C

NM_182680.1

p.L48_V49Splc

c.145-1G>A

NM_001142.2

p.E34_V35Splc

c.103-1G>A

NM_001142.2

p.V35M

c.103G>A

NM_001142.2

p.V35fs

c.103_104fs

NM_182680.1

p.V49fs

c.145_146fs

NM_182680.1

p.P52delFs

c.155delC

NM_182680.1

p.T51I

c.152C>T