Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

NM_001005494.2

p.T5N

c.14C>A

NM_001005494.2

p.T16A

c.46A>G

NM_001005494.2

p.I27L

c.79A>C

NM_001005494.2

p.Y33F

c.98A>T

NM_001005494.2

p.I37V

c.109A>G

NM_001005494.2

p.L41_T42delFs

c.123_126del4

NM_001005494.2

p.Q54*

c.160C>T

NM_001005494.2

p.R62W

c.184C>T

NM_001005494.2

p.R62Q

c.185G>A

NM_001005494.2

p.F64_S65delFs

c.192_193delCT

NM_001005494.2

p.T72I

c.215C>T

NM_001005494.2

p.M83I

c.249G>A