Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_001278639.2

p.R70*

c.208C>T

NM_001278639.2

p.G2delFs

c.5delG

NM_001278639.2

p.L12Q

c.35T>A

NM_001278639.2

p.G14V

c.41G>T

NM_001278639.2

p.R15Q

c.44G>A

NM_001278639.2

p.G71C

c.211G>T

NM_001278639.2

p.T72S

c.214A>T

NM_001278639.2

p.S75_S76delFs

c.224_227del4

NM_001278639.2

p.K79E

c.235A>G

NM_001278639.2

p.H85R

c.254A>G

NM_002882.4

p.H8R

c.23A>G

NM_001278639.2

p.E146D

c.438G>C