Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 123 variants

NM_198529.4

p.L237V

c.709T>G

NM_198529.4

p.W296*

c.887G>A

NM_198529.4

p.W296*

c.888G>A

NM_198529.4

p.R610delFs

c.1828_1829delAG

NM_198529.4

p.R1256C

c.3766C>T

NM_198529.4

p.E148fs

c.442_443fs

NM_198529.4

p.Q952*

c.2854C>T

NM_198529.4

p.T1176A

c.3526A>G

NM_198529.4

p.G1271S

c.3811G>A

NM_198529.4

p.E3*

c.7G>T

NM_198529.4

p.A5P

c.13G>C

NM_198529.4

p.R17delFs

c.49_50delAG