Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 81 variants

NM_001330112.2

p.T240K

c.719C>A

NM_001330112.2

p.M272V

c.814A>G

NM_001330112.2

p.S339A

c.1015T>G

NM_001330112.2

p.S550C

c.1648A>T

NM_001330112.2

p.M1delFs

c.2delT

NM_001330112.2

p.S2del1

c.4_5delAGT

NM_001330112.2

p.G4_S5delFs

c.12_15del4

NM_001330112.2

p.F10I

c.28T>A

NM_001330112.2

p.W11R

c.31T>A

NM_001330112.2

p.W11R

c.31T>C

NM_001330112.2

p.G12_I15del4

c.34_44del12

NM_001330112.2

p.G12_I15del0

c.36_44del9