Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 141 variants

NM_021957.4

p.R246*

c.736C>T

NM_021957.4

p.Q183*

c.547C>T

NM_021957.4

p.A339P

c.1015G>C

NM_021957.4

p.N39S

c.116A>G

NM_021957.4

p.T445M

c.1334C>T

NM_021957.4

p.R5*

c.13C>T

NM_021957.4

p.E165_V166Splc

c.495+1G>T

NM_021957.4

p.M363V

c.1087A>G

NM_021957.4

p.G382E

c.1145G>A

NM_021957.4

p.P479Q

c.1436C>A

NM_021957.4

p.T361fs

c.1081_1082fs

NM_021957.4

p.T361delFs

c.1081delT