Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 459 variants

NM_000076.2

p.R279L

c.836G>T

NM_001122630.2

p.L42P

c.125T>C

NM_000076.2

p.R279P

c.836G>C

NM_001122630.2

p.P171_P175del0

c.512_523del12

NM_000076.2

p.D274N

c.820G>A

NM_000076.2

p.F276V

c.826T>G

NM_000076.2

p.K278E

c.832A>G

NM_001122630.2

p.D57_P59delFs

c.171_175del5

NM_001122630.2

p.P171_P175del5

c.511_524del15

NM_000076.2

p.Q241*

c.721C>T

NM_000076.2

p.F276S

c.827T>C

NM_000076.2

p.S282*

c.845C>G