Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

NM_001193315.2

p.R162*

c.484C>T

NM_001193315.2

p.R270*

c.808C>T

NM_001193315.2

p.V46M

c.136G>A

NM_001193315.2

p.Q179*

c.535C>T

NM_001193315.2

p.L213P

c.638T>C

NM_001193315.2

p.W155delFs

c.463_464delCA

NM_001193315.2

p.R220*

c.658C>T

NM_001193315.2

p.Q291*

c.871C>T

NM_001193315.2

p.Q425*

c.1273C>T

NM_001193315.2

p.L484F

c.1450C>T

NM_001193315.2

p.M1R

c.2T>G

NM_001193315.2

p.F113fs

c.337_338fs