Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 133 variants

NM_173550.4

p.K1069R

c.3206A>G

NM_173550.4

p.S121T

c.361T>A

NM_173550.4

p.L1175R

c.3524T>G

NM_173550.4

p.T53_T54del1

c.159_161delAAC

NM_173550.4

p.S65N

c.194G>A

NM_173550.4

p.L152F

c.456G>C

NM_173550.4

p.L152F

c.456G>T

NM_173550.4

p.A355G

c.1064C>G

NM_173550.4

p.S749P

c.2245T>C

NM_173550.4

p.K1089_S1090Splc

c.3267+1G>A

NM_173550.4

p.R1228Q

c.3683G>A

NM_173550.4

p.S1261S

c.3783C>T