Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_006108.4

p.L10P

c.29T>C

NM_006108.4

p.P22S

c.64C>T

NM_006108.4

p.R49S

c.145C>A

NM_006108.4

p.D70N

c.208G>A

NM_006108.4

p.S77insFs

c.230_231insT

NM_006108.4

p.V80Splc

c.239-198A>T

NM_006108.4

p.K106fs

c.316_317fs

NM_006108.4

p.K106_E107delFs

c.318_319delGG

NM_006108.4

p.Q115_I116Splc

c.346-4565G>A

NM_006108.4

p.E121A

c.362A>C

NM_006108.4

p.P151T

c.451C>A

NM_006108.4

p.K160Splc

c.479+4623A>G