Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

NM_001128633.2

p.S1273G

c.3817A>G

NM_001128633.2

p.P1307T

c.3919C>A

NM_001128633.2

p.R1484K

c.4451G>A

NM_001128633.2

p.E397del1

c.1189_1190delCTC

NM_001128633.2

p.W1062R

c.3184T>C

NM_001128633.2

p.E1263A

c.3788A>C

NM_001128633.2

p.R133delFs

c.397_398delCG

NM_001128633.2

p.E195K

c.583G>A

NM_001128633.2

p.R259H

c.776G>A

NM_001128633.2

p.E372E

c.1116G>A

NM_001128633.2

p.E397_N398del1

c.1190_1192delTCT

NM_001128633.2

p.E397_N398del2

c.1189_1193del6