Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001371242.2

p.T555I

c.1664C>T

Surrounding Variants

NM_001371242.2

p.E600K

c.1798G>A

NM_001371242.2

p.S486F

c.1457C>T

NM_001371242.2

p.S480C

c.1439C>G

NM_001371242.2

p.G477S

c.1429G>A

NM_001371242.2

p.L641Splc

c.1922+1G>A

NM_001371242.2

p.L641Splc

c.1922+1G>C

NM_001371242.2

p.L641Splc

c.1922+1G>T

NM_001371242.2

p.L641Splc

c.1922+2T>G

NM_001624.4

p.E56Q

c.166G>C

NM_001371242.2

p.E464Q

c.1390G>C

NM_001371242.2

p.A456T

c.1366G>A

NM_001371242.2

p.E401insFs

c.1203dupA

NM_001371242.2

p.P393_E401insFs

c.1179_1203dup25