Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 47 variants

NM_000987.5

p.Q40_K41delFs

c.120_121delTC

NM_000987.5

p.K134R

c.401A>G

NM_000987.5

p.K132R

c.395A>G

NM_000987.5

p.M1V

c.1A>G

NM_000987.5

p.M1T

c.2T>C

NM_000987.5

p.K103N

c.309G>T

NM_000987.5

p.K103N

c.309G>C

NM_000987.5

p.D114fs

c.340_341fs

NM_000987.5

p.D114delFs

c.341delT

NM_000987.5

p.Q144*

c.430C>T

NM_000987.5

p.M1L

c.1A>T

NM_000987.5

p.M1L

c.1A>C