Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001135036.2

p.T150R

c.449C>G

NM_001135036.2

p.C51Y

c.152G>A

NM_001135036.2

p.I62T

c.185T>C

NM_001135036.2

p.R44*

c.130C>T

NM_001135036.2

p.V66V

c.198T>G

NM_001135036.2

p.S135P

c.403T>C

NM_001135036.2

p.F149del1

c.445_446delGAA

NM_001135036.2

p.L154L

c.460C>T

NM_001135036.2

p.V156insFs

c.466_467insAG

NM_001135036.2

p.R179S

c.537A>C

NM_001135036.2

p.K180E

c.538A>G

NM_001135036.2

p.K180Q

c.538A>C