Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001080379.2

p.P122S

c.364C>T

Surrounding Variants

NM_001080379.2

p.P122L

c.365C>T

NM_001080379.2

p.Y123C

c.368A>G

NM_001080379.2

p.Y123*

c.369T>A

NM_001080379.2

p.E124D

c.372G>C

NM_001080379.2

p.E124D

c.372G>T

NM_001080379.2

p.F126_A127delFs

c.378_379delTG

NM_001080379.2

p.R128W

c.382C>T

NM_001080379.2

p.L116fs

c.346_347fs

NM_001080379.2

p.R128Q

c.383G>A

NM_001080379.2

p.G115_L116ins2

c.345_346ins6

NM_001080379.2

p.G115_L116insFs

c.345_346ins7

NM_001080379.2

p.D114N

c.340G>A