Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000250.2

p.R524H

c.1571G>A

Surrounding Variants

NM_000250.2

p.R524C

c.1570C>T

NM_000250.2

p.M519_P523insFs

c.1555_1568dup14

NM_000250.2

p.M519_P523delFs

c.1555_1568del14

NM_000250.2

p.L527F

c.1579C>T

NM_000250.2

p.L527R

c.1580T>G

NM_000250.2

p.N522_L527delFs

c.1566_1579del14

NM_000250.2

p.P521L

c.1562C>T

NM_000250.2

p.M519fs

c.1555_1556fs

NM_000250.2

p.M519fs

c.1555_1556fs

NM_000250.2

p.P518delFs

c.1554delG

NM_000250.2

p.A533T

c.1597G>A

NM_000250.2

p.F532delFs

c.1596delA