Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

NM_001330145.2

p.T193M

c.578C>T

NM_001330145.2

p.M337V

c.1009A>G

NM_001330145.2

p.R5H

c.14G>A

NM_001330145.2

p.L7I

c.19C>A

NM_001330145.2

p.E14K

c.40G>A

NM_001330145.2

p.I55K

c.164T>A

NM_001330145.2

p.T61A

c.181A>G

NM_001330145.2

p.V69_L70delFs

c.207_208delAC

NM_001330145.2

p.L73F

c.217C>T

NM_001330145.2

p.N99D

c.295A>G

NM_001330145.2

p.L105W

c.314T>G

NM_001330145.2

p.Q129*

c.385C>T