Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001256798.2

p.E22V

c.65A>T

NM_001256798.2

p.G24R

c.70G>C

NM_001256798.2

p.K42N

c.126G>C

NM_001256798.2

p.I132_I133insFs

c.396_397insC

NM_001256798.2

p.I132delFs

c.396delG

NM_001256798.2

p.Q278delFs

c.832_833delTG

NM_080616.6

p.T60T

c.180G>A

NM_001256798.2

p.V319fs

c.955_956fs

NM_001256798.2

p.D330G

c.989A>G

NM_001256798.2

p.P340L

c.1019C>T

NM_080616.6

p.S130C

c.389C>G

NM_001256798.2

p.P376fs

c.1126_1127fs