Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

NM_138415.5

p.Q18_N19Splc

c.54+2T>C

NM_138415.5

p.D38G

c.113A>G

NM_138415.5

p.Q40_A41Splc

c.121-3583C>T

NM_138415.5

p.Q64L

c.191A>T

NM_138415.5

p.I78T

c.233T>C

NM_138415.5

p.D89A

c.266A>C

NM_138415.5

p.S105R

c.313A>C

NM_138415.5

p.S105N

c.314G>A

NM_138415.5

p.P109H

c.326C>A

NM_138415.5

p.A116P

c.346G>C

NM_138415.5

p.N117H

c.349A>C

NM_138415.5

p.H122Q

c.366T>G