Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

NM_001288590.2

p.F153S

c.458T>C

NM_001288590.2

p.T432A

c.1294A>G

NM_001288590.2

p.T483I

c.1448C>T

NM_001288590.2

p.S746F

c.2237C>T

NM_001288590.2

p.R683I

c.2048G>T

NM_001288590.2

p.R6K

c.17G>A

NM_001288590.2

p.A17insFs

c.50_51ins8

NM_001288590.2

p.R24C

c.70C>T

NM_001288590.2

p.E30K

c.88G>A

NM_001288590.2

p.P48R

c.143C>G

NM_001288590.2

p.C50_E51ins8

c.148_152ins24

NM_001288590.2

p.S73I

c.218G>T