Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001394063.1

p.K37_E38Splc

c.111+4A>G

NM_001394063.1

p.G70*

c.208G>T

NM_001394063.1

p.V82I

c.244G>A

NM_001394063.1

p.D193Y

c.577G>T

NM_198463.4

p.R170*

c.508C>T

NM_001394063.1

p.S312*

c.935C>A

NM_001394063.1

p.S392L

c.1175C>T

NM_001394063.1

p.S399S

c.1197C>T

NM_001394063.1

p.G402R

c.1204G>A

NM_001394063.1

p.S408C

c.1223C>G

NM_001394063.1

p.P488L

c.1463C>T

NM_001394063.1

p.Q537H

c.1611G>T