Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_030971.6

p.P33T

c.97C>A

NM_030971.6

p.L37M

c.109C>A

NM_030971.6

p.L38L

c.112C>T

NM_030971.6

p.F78S

c.233T>C

NM_030971.6

p.I190I

c.570C>A

NM_030971.6

p.A210T

c.628G>A

NM_030971.6

p.L262insFs

c.786dupG

NM_030971.6

p.L266fs

c.796_797fs

NM_030971.6

p.L266insFs

c.798dupG

NM_030971.6

p.L281R

c.842T>G

NM_030971.6

p.Q308*

c.922C>T

NM_030971.6

p.E313V

c.938A>T