Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001122630.2

p.L42P

c.125T>C

NM_000076.2

p.L53P

c.158T>C

Surrounding Variants

NM_000076.2

p.L53del1

c.157_159delCAG

NM_001122630.2

p.E41V

c.122A>T

NM_001122630.2

p.E41*

c.121G>T

NM_001122630.2

p.E41Q

c.121G>C

NM_000076.2

p.L50P

c.149T>C

NM_001122630.2

p.E45V

c.134A>T

NM_000076.2

p.E56G

c.167A>G

NM_001122630.2

p.Q47*

c.139C>T

NM_001122630.2

p.A37V

c.110C>T

NM_001122630.2

p.D46delFs

c.138delG

NM_001122630.2

p.D46_Q47delFs

c.138_139delGG

NM_001122630.2

p.A37S

c.109G>T