Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001142305.2

p.E13D

c.39A>C

NM_001142305.2

p.E13D

c.39A>T

NM_001142305.2

p.E4delFs

c.10delG

NM_001142305.2

p.E4Q

c.10G>C

NM_001142305.2

p.E10del1

c.28_29delGAG

NM_001142305.2

p.D28_G30del3

c.82_89del9

NM_001142305.2

p.P55L

c.164C>T

NM_001142305.2

p.H113L

c.338A>T

NM_001142305.2

p.L134Q

c.401T>A

NM_001142305.2

p.A157T

c.469G>A

NM_001142305.2

p.A157V

c.470C>T

NM_001142305.2

p.S160insFs

c.480dupC