Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001143962.2

p.S294L

c.881C>T

Surrounding Variants

NM_001143962.2

p.D299G

c.896A>G

NM_001143962.2

p.E271_V272Splc

c.814-1G>A

NM_001143962.2

p.N305Y

c.913A>T

NM_001143962.2

p.S245Y

c.734C>A

NM_001143962.2

p.D243_V244Splc

c.730-2A>G

NM_001143962.2

p.W325Splc

c.975-106G>T

NM_001143962.2

p.W325Splc

c.975-104C>T

NM_001143962.2

p.F361fs

c.1081_1082fs

NM_001143962.2

p.F361delFs

c.1083delG

NM_001143962.2

p.S369F

c.1106C>T

NM_001143962.2

p.D243_V244Splc

c.729+9T>A

NM_001143962.2

p.I242T

c.725T>C