Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_152222.2

p.P390delFs

c.1169_1170delCT

NM_152222.2

p.L40_D41Splc

c.121-2A>G

NM_152222.2

p.A332V

c.995C>T

NM_152222.2

p.P390fs

c.1168_1169fs

NM_152222.2

p.T55I

c.164C>T

NM_152222.2

p.R422W

c.1264C>T

NM_152222.2

p.R422P

c.1265G>C

NM_152222.2

p.T256M

c.767C>T

NM_152222.2

p.P390fs

c.1168_1169fs

NM_152222.2

p.M15_L16Splc

c.45+6C>T

NM_152222.2

p.M15_L16Splc

c.45+37G>A

NM_152222.2

p.L16fs

c.46_47fs