Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

NM_002762.4

p.H64N

c.190C>A

NM_002762.4

p.H67H

c.201C>T

NM_002762.4

p.R18R

c.54G>A

NM_002762.4

p.H22H

c.66T>C

NM_002762.4

p.T94I

c.281C>T

NM_002762.4

p.H29H

c.87C>T

NM_002762.4

p.Q50*

c.148C>T

NM_002762.4

p.G91Splc

c.272-61C>A

NM_002762.4

p.K96N

c.288G>C

NM_002762.4

p.R3*

c.7C>T

NM_002762.4

p.R5R

c.15C>T

NM_002762.4

p.R12C

c.34C>T