Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

NM_001037813.4

p.F41_R42delFs

c.123_124delCA

NM_001037813.4

p.F123_S124del2

c.367_371del6

NM_001037813.4

p.F123_S124del1

c.369_371delCTC

NM_001037813.4

p.Q235*

c.703C>T

NM_001037813.4

p.K369_Y371del3

c.1105_1112del9

NM_001037813.4

p.Y33H

c.97T>C

NM_001037813.4

p.Q115E

c.343C>G

NM_001037813.4

p.N178S

c.533A>G

NM_001037813.4

p.L192V

c.574C>G

NM_001037813.4

p.F231_C233delFs

c.691_697del7

NM_001037813.4

p.F231fs

c.691_692fs

NM_001037813.4

p.R242H

c.725G>A