Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

NM_178516.4

p.P44L

c.131C>T

NM_178516.4

p.Y75N

c.223T>A

NM_178516.4

p.R233Q

c.698G>A

NM_178516.4

p.R242Q

c.725G>A

NM_178516.4

p.R245H

c.734G>A

NM_178516.4

p.H449R

c.1346A>G

NM_178516.4

p.Q561E

c.1681C>G

NM_178516.4

p.M1Fs

c.1delinsCAFs

NM_178516.4

p.S14C

c.41C>G

NM_178516.4

p.R43W

c.127C>T

NM_178516.4

p.Q46K

c.136C>A

NM_178516.4

p.R97W

c.289C>T