Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

NM_001382323.2

p.Q25R

c.74A>G

NM_001382323.2

p.P246L

c.737C>T

NM_001382323.2

p.E442del1

c.1324_1325delGAG

NM_001382323.2

p.Q29_M30Splc

c.87+5744G>A

NM_001382323.2

p.T33N

c.98C>A

NM_001382323.2

p.S49*

c.146C>A

NM_001382323.2

p.S49*

c.146C>G

NM_001382323.2

p.Q66H

c.198G>C

NM_001382323.2

p.Q66H

c.198G>T

NM_001382323.2

p.R72*

c.214C>T

NM_001382323.2

p.L79V

c.235C>G

NM_001382323.2

p.E88Q

c.262G>C