Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_017763.6

p.P346H

c.1037C>A

Surrounding Variants

NM_017763.6

p.G347C

c.1039G>T

NM_017763.6

p.H345Y

c.1033C>T

NM_017763.6

p.G347fs

c.1039_1040fs

NM_017763.6

p.Q344H

c.1032G>T

NM_017763.6

p.Q344H

c.1032G>C

NM_017763.6

p.H348L

c.1043A>T

NM_017763.6

p.Q344R

c.1031A>G

NM_017763.6

p.A349_H350insCC

c.1045_1049ins6

NM_017763.6

p.R343fs

c.1027_1028fs

NM_001305545.1

p.R216H

c.647G>A

NM_017763.6

p.R343H

c.1028G>A

NM_017763.6

p.A349V

c.1046C>T

NM_017763.6

p.I342_R343insFs

c.1026_1027insT