Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_013342.4

p.R170_R171del1

c.510_512delCTT

Surrounding Variants

NM_013342.4

p.R170_R171del2

c.508_512del6

NM_013342.4

p.L166insFs

c.496_497insG

NM_013342.4

p.P183S

c.547C>T

NM_013342.4

p.E185V

c.554A>T

NM_013342.4

p.E157Q

c.469G>C

NM_013342.4

p.R200C

c.598C>T

NM_013342.4

p.R132Q

c.395G>A

NM_013342.4

p.G128W

c.382G>T

NM_013342.4

p.L124M

c.370C>A

NM_013342.4

p.E219*

c.655G>T

NM_013342.4

p.L229P

c.686T>C

NM_013342.4

p.D239fs

c.715_716fs