Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001007157.2

p.R508K

c.1523G>A

Surrounding Variants

NM_001007157.2

p.L502S

c.1505T>C

NM_001007157.2

p.R525*

c.1573A>T

NM_001007157.2

p.S530P

c.1588T>C

NM_001007157.2

p.Q534_A535Splc

c.1602+24G>A

NM_001007157.2

p.Q543*

c.1627C>T

NM_001007157.2

p.E549Q

c.1645G>C

NM_001007157.2

p.Q557*

c.1669C>T

NM_001007157.2

p.V560V

c.1680T>A

NM_001007157.2

p.R581Q

c.1742G>A

NM_001007157.2

p.E639K

c.1915G>A

NM_001007157.2

p.L654P

c.1961T>C

NM_001007157.2

p.K660_L661Splc

c.1980+1G>C