Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001330177.2

p.Y93H

c.277T>C

NM_001330177.2

p.S120N

c.359G>A

NM_001330177.2

p.C121R

c.361T>C

NM_001330177.2

p.A147P

c.439G>C

NM_001330177.2

p.P212A

c.634C>G

NM_001330177.2

p.L213F

c.637C>T

NM_001330177.2

p.Q243L

c.728A>T

NM_001330177.2

p.L252S

c.755T>C

NM_001330177.2

p.M272T

c.815T>C

NM_001330177.2

p.I362V

c.1084A>G

NM_001330177.2

p.P455Fs

c.1365delinsATFs

NM_001330177.2

p.M486T

c.1457T>C