Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 148 variants

NM_001145304.2

p.S285T

c.854G>C

NM_001145304.2

p.Y648F

c.1943A>T

NM_001145304.2

p.Q818fs

c.2452_2453fs

NM_001145304.2

p.Q818delFs

c.2453_2454delCT

NM_001145304.2

p.P1095H

c.3284C>A

NM_001145304.2

p.L44P

c.131T>C

NM_001145304.2

p.L235V

c.703C>G

NM_001145304.2

p.Q304*

c.910C>T

NM_001145304.2

p.Y354fs

c.1060_1061fs

NM_001145304.2

p.Y354delFs

c.1061_1062delAT

NM_001145304.2

p.M359T

c.1076T>C

NM_001145304.2

p.T610P

c.1828A>C