Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001195076.2

p.P7H

c.20C>A

NM_001195076.2

p.G23Splc

c.67+320C>A

NM_001195076.2

p.M35L

c.103A>T

NM_001195076.2

p.S47L

c.140C>T

NM_001195076.2

p.P66S

c.196C>T

NM_001195076.2

p.R69W

c.205C>T

NM_001195076.2

p.S77A

c.229T>G

NM_001195076.2

p.A100S

c.298G>T

NM_001195076.2

p.A103T

c.307G>A

NM_001195076.2

p.R118C

c.352C>T

NM_001195076.2

p.R132Q

c.395G>A

NM_001195076.2

p.R164H

c.491G>A