Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001174147.2

p.K247_V248Splc

c.741+1G>T

Surrounding Variants

NM_001174147.2

p.K247_V248Splc

c.741+1G>A

NM_001174147.2

p.R246Q

c.737G>A

NM_001174147.2

p.R246P

c.737G>C

NM_001174147.2

p.R246L

c.737G>T

NM_001174147.2

p.R246*

c.736C>T

NM_001174147.2

p.C245*

c.735C>A

NM_001174147.2

p.P244R

c.731C>G

NM_001174147.2

p.P244fs

c.730_731fs

NM_001174147.2

p.K243fs

c.727_728fs

NM_001174147.2

p.K243_P244insA

c.727_731ins3

NM_001174147.2

p.S242S

c.726G>C

NM_001174147.2

p.S242_K243insFs

c.726_727insAA