Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

NM_001080510.5

p.H57_C58delFs

c.169_172del4

NM_001080510.5

p.H57fs

c.169_170fs

NM_001080510.5

p.D108Splc

c.322+2T>C

NM_001080510.5

p.Q133*

c.397C>T

NM_001080510.5

p.S136Splc

c.407+1G>C

NM_001080510.5

p.L145_Y146delFs

c.434_438del5

NM_001080510.5

p.L157delFs

c.470_471delTT

NM_001080510.5

p.E169_L172del4

c.505_515del12

NM_001080510.5

p.E28G

c.83A>G

NM_001080510.5

p.M150T

c.449T>C

NM_001080510.5

p.C58_L59delFs

c.174_177del4

NM_001080510.5

p.L59insFs

c.176_177insG