Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 100 variants

NM_001004728.2

p.D183N

c.547G>A

NM_001004728.2

p.T40T

c.120C>G

NM_001004728.2

p.R125*

c.373C>T

NM_001004728.2

p.G173R

c.517G>A

NM_001004728.2

p.G173R

c.517G>C

NM_001004728.2

p.R237*

c.709C>T

NM_001004728.2

p.S246L

c.737C>T

NM_001004728.2

p.F260F

c.780C>T

NM_001004728.2

p.R264*

c.790C>T

NM_001004728.2

p.S11fs

c.31_32fs

NM_001004728.2

p.V12E

c.35T>A

NM_001004728.2

p.V12V

c.36G>C