Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 31 variants

NM_001012455.2

p.T9N

c.26C>A

NM_001012455.2

p.S34L

c.101C>T

NM_001012455.2

p.C73F

c.218G>T

NM_001012455.2

p.Q86H

c.258G>T

NM_001012455.2

p.Q86H

c.258G>C

NM_001012455.2

p.Q110_H111delFs

c.329_332del4

NM_001012455.2

p.P113delFs

c.338delG

NM_001012455.2

p.E117D

c.351G>T

NM_001012455.2

p.E117D

c.351G>C

NM_001012455.2

p.A119S

c.355G>T

NM_001012455.2

p.T121A

c.361A>G

NM_001012455.2

p.E135K

c.403G>A