Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 152 variants

NM_001394966.1

p.L513S

c.1538T>C

NM_001394966.1

p.R365Q

c.1094G>A

NM_001394966.1

p.A770V

c.2309C>T

NM_001394966.1

p.E379K

c.1135G>A

NM_001394966.1

p.N401S

c.1202A>G

NM_001394966.1

p.R458Splc

c.1373+1G>T

NM_001394966.1

p.R773C

c.2317C>T

NM_001394966.1

p.Q163_Y164Splc

c.490-48G>T

NM_001394966.1

p.G343Splc

c.1028+1G>T

NM_001394966.1

p.G355E

c.1064G>A

NM_001394966.1

p.Q410_E411Splc

c.1230+5G>C

NM_001394966.1

p.C437fs

c.1309_1310fs