Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 153 variants

NM_001031803.2

p.R45H

c.134G>A

NM_001031803.2

p.F479L

c.1435T>C

NM_001031803.2

p.F479L

c.1437C>A

NM_001031803.2

p.F479L

c.1437C>G

NM_001031803.2

p.S480N

c.1439G>A

NM_001031803.2

p.A670delFs

c.2008delG

NM_001031803.2

p.A744T

c.2230G>A

NM_001031803.2

p.P759S

c.2275C>T

NM_001031803.2

p.R944C

c.2830C>T

NM_001031803.2

p.R957*

c.2869C>T

NM_001031803.2

p.G996R

c.2986G>A

NM_001031803.2

p.G996R

c.2986G>C