Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001330218.2

p.H84Y

c.250C>T

NM_001330218.2

p.I32S

c.95T>G

NM_001330218.2

p.P45P

c.135C>A

NM_001330218.2

p.D54Y

c.160G>T

NM_001330218.2

p.H65D

c.193C>G

NM_001330218.2

p.L92L

c.274C>T

NM_001330218.2

p.V99Splc

c.296-1G>T

NM_001330218.2

p.A158V

c.473C>T

NM_001330218.2

p.P178T

c.532C>A

NM_001330218.2

p.A288A

c.864C>T

NM_001330218.2

p.C329W

c.987T>G

NM_001330218.2

p.L334M

c.1000T>A