Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_198539.4

p.S572P

c.1714T>C

NM_198539.4

p.R172*

c.514A>T

NM_198539.4

p.A566P

c.1696G>C

NM_198539.4

p.A26Splc

c.76+41G>T

NM_198539.4

p.E31Q

c.91G>C

NM_198539.4

p.E105D

c.315G>C

NM_198539.4

p.E112*

c.334G>T

NM_198539.4

p.Q127H

c.381G>C

NM_198539.4

p.C155fs

c.463_464fs

NM_198539.4

p.C155delFs

c.464delG

NM_198539.4

p.K160R

c.479A>G

NM_198539.4

p.Q173R

c.518A>G