Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_003614.2

p.P53A

c.157C>G

NM_003614.2

p.R120W

c.358A>T

NM_003614.2

p.V164L

c.490G>C

NM_003614.2

p.V164L

c.490G>T

NM_003614.2

p.A221V

c.662C>T

NM_003614.2

p.A364V

c.1091C>T

NM_003614.2

p.P47_A49delFs

c.141_145del5

NM_003614.2

p.S48fs

c.142_143fs

NM_003614.2

p.W50_T56delFs

c.148_166del19

NM_003614.2

p.W50fs

c.148_149fs

NM_003614.2

p.L69I

c.205C>A

NM_003614.2

p.L73_C75del0

c.219_224del6