Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_001101312.2

p.S94R

c.280A>C

NM_001101312.2

p.A134T

c.400G>A

NM_001101312.2

p.S94R

c.282T>G

NM_001101312.2

p.S94R

c.282T>A

NM_001101312.2

p.K45M

c.134A>T

NM_001101312.2

p.P55S

c.163C>T

NM_001101312.2

p.T70A

c.208A>G

NM_001101312.2

p.H119D

c.355C>G

NM_001101312.2

p.R180W

c.538C>T

NM_001101312.2

p.E252K

c.754G>A

NM_001101312.2

p.M1T

c.2T>C

NM_001101312.2

p.T2insFs

c.4_5insT