Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000948.6

p.N104_Q105Splc

c.313-1G>A

Surrounding Variants

NM_000948.6

p.Q105*

c.313C>T

NM_000948.6

p.N104_Q105Splc

c.313-2A>G

NM_000948.6

p.D107A

c.320A>C

NM_000948.6

p.S110C

c.328A>T

NM_000948.6

p.S110R

c.330C>G

NM_000948.6

p.L111L

c.331C>T

NM_000948.6

p.L111P

c.332T>C

NM_000948.6

p.I112K

c.335T>A

NM_000948.6

p.S114R

c.342C>G

NM_000948.6

p.I115T

c.344T>C

NM_000948.6

p.I115delFs

c.343delT

NM_000948.6

p.R117*

c.349C>T