Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

NM_001372060.1

p.S230C

c.689C>G

NM_001372060.1

p.R80R

c.240C>G

NM_001372060.1

p.N99N

c.297C>T

NM_001372060.1

p.P117P

c.351G>A

NM_001372060.1

p.H198Y

c.592C>T

NM_001372060.1

p.T23S

c.67A>T

NM_001372060.1

p.T23S

c.68C>G

NM_001372060.1

p.A25A

c.75G>C

NM_001372060.1

p.D48insFs

c.143dupA

NM_001372060.1

p.S49I

c.146G>T

NM_001372060.1

p.R52H

c.155G>A

NM_001372060.1

p.V61M

c.181G>A