Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 68 variants

NM_001130864.2

p.S14P

c.40T>C

NM_001130864.2

p.P520S

c.1558C>T

NM_001130864.2

p.E65Q

c.193G>C

NM_001130864.2

p.S96P

c.286T>C

NM_001130864.2

p.A126D

c.377C>A

NM_001130864.2

p.E128G

c.383A>G

NM_001130864.2

p.E132fs

c.394_395fs

NM_001130864.2

p.E132_P133delFs

c.396_397delGC

NM_001130864.2

p.A147E

c.440C>A

NM_001130864.2

p.L156V

c.466C>G

NM_001130864.2

p.S160L

c.479C>T

NM_001130864.2

p.R195Splc

c.584+8738A>G