Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001276318.2

p.R3G

c.7C>G

NM_001276318.2

p.K86fs

c.256_257fs

NM_001276318.2

p.K86delFs

c.256_257delTT

NM_001276318.2

p.R3C

c.7C>T

NM_001276318.2

p.A19G

c.56C>G

NM_001276318.2

p.R31W

c.91C>T

NM_001276318.2

p.E35Q

c.103G>C

NM_001276318.2

p.E39K

c.115G>A

NM_001276318.2

p.E44D

c.132G>T

NM_001276318.2

p.E44D

c.132G>C

NM_001276318.2

p.G152G

c.456C>G

NM_001276318.2

p.L172V

c.514C>G