Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 30 variants

NM_001113482.2

p.L42_L44delFs

c.124_131del8

NM_001113482.2

p.H124_P131del8

c.370_392del24

NM_001113482.2

p.P149insFs

c.446dupC

NM_001113482.2

p.E169K

c.505G>A

NM_001113482.2

p.T246M

c.737C>T

NM_001113482.2

p.F13S

c.38T>C

NM_001113482.2

p.P32L

c.95C>T

NM_001113482.2

p.P62Q

c.185C>A

NM_001113482.2

p.D104E

c.312C>A

NM_001113482.2

p.D104E

c.312C>G

NM_001113482.2

p.E119G

c.356A>G

NM_001113482.2

p.W125L

c.374G>T