Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_152510.4

p.R162C

c.484C>T

NM_152510.4

p.Q169*

c.505C>T

NM_152510.4

p.G261D

c.782G>A

NM_152510.4

p.M1V

c.1A>G

NM_152510.4

p.K17N

c.51G>C

NM_152510.4

p.G51insFs

c.151dupG

NM_152510.4

p.G51C

c.151G>T

NM_152510.4

p.G79E

c.236G>A

NM_152510.4

p.L81L

c.241C>T

NM_152510.4

p.C90Y

c.269G>A

NM_152510.4

p.E114_K115Splc

c.343-2A>G

NM_152510.4

p.V116_T117delFs

c.348_349delGA