Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

NM_001308027.2

p.P4P

c.12C>A

NM_001308027.2

p.P10P

c.30C>T

NM_001308027.2

p.P25R

c.74C>G

NM_001308027.2

p.D33H

c.97G>C

NM_001308027.2

p.L66L

c.198C>T

NM_001308027.2

p.G72fs

c.214_215fs

NM_001308027.2

p.S81C

c.242C>G

NM_001308027.2

p.T109T

c.327G>A

NM_001308027.2

p.E123D

c.369G>T

NM_001308027.2

p.E123D

c.369G>C

NM_001308027.2

p.E167G

c.500A>G

NM_001308027.2

p.K170_T171Splc

c.511-9520G>A