Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 72 variants

NM_030782.5

p.K313N

c.939G>T

NM_030782.5

p.K313N

c.939G>C

NM_030782.5

p.D193N

c.577G>A

NM_030782.5

p.V207M

c.619G>A

NM_030782.5

p.F443L

c.1327T>C

NM_030782.5

p.M1R

c.2T>G

NM_030782.5

p.L11L

c.33G>A

NM_030782.5

p.I30V

c.88A>G

NM_030782.5

p.Y32fs

c.94_95fs

NM_030782.5

p.Y32delFs

c.96delG

NM_030782.5

p.N41S

c.122A>G

NM_030782.5

p.Q44*

c.130C>T