Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001105577.2

p.H67N

c.199C>A

NM_001105577.2

p.F51Fs

c.153delinsCGFs

NM_001105577.2

p.I52fs

c.154_155fs

NM_001105577.2

p.Q57P

c.170A>C

NM_001105577.2

p.E87Q

c.259G>C

NM_001105577.2

p.Q88E

c.262C>G

NM_001105577.2

p.R114S

c.340C>A

NM_001105577.2

p.G116R

c.346G>C

NM_001105577.2

p.R128R

c.384G>A

NM_001105577.2

p.R133H

c.398G>A

NM_001105577.2

p.E134D

c.402G>T

NM_001105577.2

p.E134D

c.402G>C