Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001311175.2

p.D143N

c.427G>A

NM_207381.4

p.R5W

c.13C>T

NM_001311175.2

p.E12Q

c.34G>C

NM_001311175.2

p.T68T

c.204A>T

NM_001311175.2

p.H69fs

c.205_206fs

NM_001311175.2

p.H69_N70delFs

c.207_208delTG

NM_001311175.2

p.K76N

c.228G>T

NM_001311175.2

p.K76N

c.228G>C

NM_001311175.2

p.R93W

c.277C>T

NM_001311175.2

p.R93Q

c.278G>A

NM_001311175.2

p.E147Q

c.439G>C

NM_001311175.2

p.H158R

c.473A>G