Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_001145545.2

p.A47V

c.140C>T

NM_001145545.2

p.R108G

c.322A>G

NM_001145545.2

p.R110W

c.328C>T

NM_001145545.2

p.E15Q

c.43G>C

NM_001145545.2

p.E18A

c.53A>C

NM_001145545.2

p.E24A

c.71A>C

NM_001145545.2

p.E26A

c.77A>C

NM_001145545.2

p.L36S

c.107T>C

NM_001145545.2

p.S40T

c.118T>A

NM_001145545.2

p.W43_V49delFs

c.129_147del19

NM_001145545.2

p.R45C

c.133C>T

NM_001145545.2

p.G48delFs

c.142_143delGG