Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001170738.2

p.D667H

c.1999G>C

Surrounding Variants

NM_001170738.2

p.I664Splc

c.1992-1G>C

NM_001170738.2

p.I664Splc

c.1992-8A>C

NM_001170738.2

p.I684_G685delFs

c.2052_2053delCG

NM_001170738.2

p.L696I

c.2086C>A

NM_001170738.2

p.R698H

c.2093G>A

NM_001170738.2

p.M700I

c.2100G>A

NM_001170738.2

p.M700I

c.2100G>C

NM_001170738.2

p.M700I

c.2100G>T

NM_001170738.2

p.R714C

c.2140C>T

NM_001170738.2

p.D715N

c.2143G>A

NM_001170738.2

p.D715D

c.2145C>T

NM_001170738.2

p.D718Splc

c.2153+124C>G