Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_001195135.2

p.A28V

c.83C>T

NM_001195135.2

p.R34T

c.101G>C

NM_001195135.2

p.R80P

c.239G>C

NM_001195135.2

p.R148G

c.442C>G

NM_001195135.2

p.A210T

c.628G>A

NM_001195135.2

p.P232delFs

c.694_695delCC

NM_001195135.2

p.P232fs

c.694_695fs

NM_001195135.2

p.A242P

c.724G>C

NM_001195135.2

p.T267R

c.800C>G

NM_001195135.2

p.D281N

c.841G>A

NM_001195135.2

p.P292P

c.876G>T

NM_001195135.2

p.T298M

c.893C>T