Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001040181.2

p.H199R

c.596A>G

NM_001040181.2

p.A249P

c.745G>C

NM_001040181.2

p.W32L

c.95G>T

NM_001040181.2

p.N65H

c.193A>C

NM_001040181.2

p.N72S

c.215A>G

NM_001040181.2

p.R80Q

c.239G>A

NM_001040181.2

p.S99L

c.296C>T

NM_001040181.2

p.F100L

c.300T>A

NM_001040181.2

p.D121E

c.363T>G

NM_001040181.2

p.D121E

c.363T>A

NM_001040181.2

p.R138H

c.413G>A

NM_001040181.2

p.L156S

c.467T>C