Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001079537.2

p.E37*

c.109G>T

Surrounding Variants

NM_001079537.2

p.M39L

c.115A>T

NM_001079537.2

p.M39L

c.115A>C

NM_001079537.2

p.G40V

c.119G>T

NM_001079537.2

p.I33V

c.97A>G

NM_001079537.2

p.R42*

c.124C>T

NM_001079537.2

p.E28fs

c.82_83fs

NM_001079537.2

p.V27_E28Splc

c.82-2A>G

NM_001079537.2

p.E49fs

c.145_146fs

NM_001079537.2

p.E49delFs

c.145delC

NM_001079537.2

p.R50fs

c.148_149fs

NM_001079537.2

p.R50K

c.149G>A

NM_001079537.2

p.R50Splc

c.149+2T>A