Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001304963.2

p.T8T

c.24A>G

NM_001304963.2

p.R78W

c.232C>T

NM_001304963.2

p.E28E

c.84G>A

NM_001304963.2

p.E32K

c.94G>A

NM_001304963.2

p.P54T

c.160C>A

NM_001304963.2

p.E55G

c.164A>G

NM_001304963.2

p.E65*

c.193G>T

NM_001304963.2

p.R78Q

c.233G>A

NM_001304963.2

p.V82I

c.244G>A

NM_001304963.2

p.D106N

c.316G>A

NM_001304963.2

p.W107fs

c.319_320fs

NM_001304963.2

p.W107delFs

c.320delG